المؤلفون: Ahmad F; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University (QAU), Islamabad, Pakistan., Ansar M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University (QAU), Islamabad, Pakistan., Mehmood S; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University (QAU), Islamabad, Pakistan., Izoduwa A; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, Texas, USA., Lee K; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, Texas, USA., Nasir A; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University (QAU), Islamabad, Pakistan., Abrar M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University (QAU), Islamabad, Pakistan., Mehmood S; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University (QAU), Islamabad, Pakistan., Ullah A; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University (QAU), Islamabad, Pakistan., Aziz A; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University (QAU), Islamabad, Pakistan., Smith JD; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, Texas, USA., Shendure J; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, Texas, USA., Bamshad MJ; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, Texas, USA., Nicekrson DA; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, Texas, USA., Santos-Cortez RL; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, Texas, USA., Leal SM; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, Texas, USA., Ahmad W; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University (QAU), Islamabad, Pakistan.; Pakistan Academy of Sciences (PAS), Islamabad, Pakistan.

مؤلفون مشاركون: University of Washington Center for Mendelian Genomics; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.

المصدر: Journal of the European Academy of Dermatology and Venereology : JEADV [J Eur Acad Dermatol Venereol] 2016 Dec; Vol. 30 (12), pp. e210-e213. Date of Electronic Publication: 2015 Dec 21.

نوع المنشور: Case Reports; Letter

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 9216037 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-3083 (Electronic) Linking ISSN: 09269959 NLM ISO Abbreviation: J Eur Acad Dermatol Venereol Subsets: MEDLINE

مواضيع طبية MeSH: Consanguinity* , Mutation, Missense*, Ichthyosiform Erythroderma, Congenital/*genetics , Lipase/*genetics, Amino Acid Sequence ; Female ; Genes, Recessive ; Humans ; Lipase/chemistry ; Male ; Pakistan ; Pedigree ; Sequence Homology, Amino Acid

المؤلفون: Santos-Cortez RL; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA santosco@bcm.edu., Reyes-Quintos MR; Philippine National Ear Institute, University of the Philippines Manila-National Institutes of Health, Manila, Philippines.; Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines., Tantoco ML; Philippine National Ear Institute, University of the Philippines Manila-National Institutes of Health, Manila, Philippines.; Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines., Abbe I; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Llanes EG; Philippine National Ear Institute, University of the Philippines Manila-National Institutes of Health, Manila, Philippines.; Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines., Ajami NJ; Alkek Center for Metagenomics and Microbiome Research (CMMR), Department of Molecular Virology and Microbiology, Baylor College of Medicine, Houston, Texas, USA., Hutchinson DS; Alkek Center for Metagenomics and Microbiome Research (CMMR), Department of Molecular Virology and Microbiology, Baylor College of Medicine, Houston, Texas, USA., Petrosino JF; Alkek Center for Metagenomics and Microbiome Research (CMMR), Department of Molecular Virology and Microbiology, Baylor College of Medicine, Houston, Texas, USA., Padilla CD; Institute of Human Genetics, University of the Philippines Manila-National Institutes of Health, Manila, Philippines.; Department of Pediatrics, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines.; Philippine Genome Center, University of the Philippines Diliman, Quezon City, Philippines., Villarta RL Jr; Philippine National Ear Institute, University of the Philippines Manila-National Institutes of Health, Manila, Philippines.; Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines., Gloria-Cruz TL; Philippine National Ear Institute, University of the Philippines Manila-National Institutes of Health, Manila, Philippines.; Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines., Chan AL; Philippine National Ear Institute, University of the Philippines Manila-National Institutes of Health, Manila, Philippines.; Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines., Cutiongco-de la Paz EM; Institute of Human Genetics, University of the Philippines Manila-National Institutes of Health, Manila, Philippines.; Department of Pediatrics, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines.; Philippine Genome Center, University of the Philippines Diliman, Quezon City, Philippines., Chiong CM; Philippine National Ear Institute, University of the Philippines Manila-National Institutes of Health, Manila, Philippines.; Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines., Leal SM; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Abes GT; Philippine National Ear Institute, University of the Philippines Manila-National Institutes of Health, Manila, Philippines.; Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines.

المصدر: Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery [Otolaryngol Head Neck Surg] 2016 Nov; Vol. 155 (5), pp. 856-862. Date of Electronic Publication: 2016 Aug 02.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Wiley Country of Publication: England NLM ID: 8508176 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6817 (Electronic) Linking ISSN: 01945998 NLM ISO Abbreviation: Otolaryngol Head Neck Surg Subsets: MEDLINE

مواضيع طبية MeSH: Environmental Exposure/*adverse effects , Otitis Media/*epidemiology , Otitis Media/*genetics , alpha-Macroglobulins/*genetics, Adolescent ; Adult ; Child ; Child, Preschool ; Cross-Sectional Studies ; Female ; Genetic Predisposition to Disease ; Genotype ; Humans ; Male ; Microbiota ; Otitis Media/microbiology ; Otoscopy ; Philippines/epidemiology ; Prevalence ; Risk Factors

المؤلفون: Santos-Cortez RL; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. regie.santos-cortez@ucdenver.edu.; Current affiliation: Department of Otolaryngology, University of Colorado School of Medicine, Aurora, CO, 80045, USA. regie.santos-cortez@ucdenver.edu., Hutchinson DS; Department of Molecular Virology and Microbiology, Alkek Center for Metagenomics and Microbiome Research (CMMR), Baylor College of Medicine, Houston, TX, 77030, USA., Ajami NJ; Department of Molecular Virology and Microbiology, Alkek Center for Metagenomics and Microbiome Research (CMMR), Baylor College of Medicine, Houston, TX, 77030, USA., Reyes-Quintos MR; Philippine National Ear Institute, University of the Philippines Manila - National Institutes of Health (UPM-NIH), Manila, 1000, Philippines.; Department of Otorhinolaryngology, University of the Philippines College of Medicine - Philippine General Hospital, Manila, 1000, Philippines., Tantoco ML; Philippine National Ear Institute, University of the Philippines Manila - National Institutes of Health (UPM-NIH), Manila, 1000, Philippines., Labra PJ; Department of Otorhinolaryngology, University of the Philippines College of Medicine - Philippine General Hospital, Manila, 1000, Philippines., Lagrana SM; Philippine National Ear Institute, University of the Philippines Manila - National Institutes of Health (UPM-NIH), Manila, 1000, Philippines., Pedro M; Philippine National Ear Institute, University of the Philippines Manila - National Institutes of Health (UPM-NIH), Manila, 1000, Philippines., Llanes EG; Philippine National Ear Institute, University of the Philippines Manila - National Institutes of Health (UPM-NIH), Manila, 1000, Philippines.; Department of Otorhinolaryngology, University of the Philippines College of Medicine - Philippine General Hospital, Manila, 1000, Philippines., Gloria-Cruz TL; Philippine National Ear Institute, University of the Philippines Manila - National Institutes of Health (UPM-NIH), Manila, 1000, Philippines.; Department of Otorhinolaryngology, University of the Philippines College of Medicine - Philippine General Hospital, Manila, 1000, Philippines., Chan AL; Philippine National Ear Institute, University of the Philippines Manila - National Institutes of Health (UPM-NIH), Manila, 1000, Philippines.; Department of Otorhinolaryngology, University of the Philippines College of Medicine - Philippine General Hospital, Manila, 1000, Philippines., Cutiongco-de la Paz EM; Institute of Human Genetics, UPM-NIH, Manila, 1000, Philippines.; Philippine Genome Center, University of the Philippines, Diliman, Quezon City, 1101, Philippines., Belmont JW; Departments of Molecular and Human Genetics and Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Current address: Illumina, Inc, San Diego, CA, 92122, USA., Chonmaitree T; Division of Pediatric Infectious Disease and Immunology, Department of Pediatrics, University of Texas Medical Branch, Galveston, TX, 77555, USA., Abes GT; Philippine National Ear Institute, University of the Philippines Manila - National Institutes of Health (UPM-NIH), Manila, 1000, Philippines.; Department of Otorhinolaryngology, University of the Philippines College of Medicine - Philippine General Hospital, Manila, 1000, Philippines., Petrosino JF; Department of Molecular Virology and Microbiology, Alkek Center for Metagenomics and Microbiome Research (CMMR), Baylor College of Medicine, Houston, TX, 77030, USA., Leal SM; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Chiong CM; Philippine National Ear Institute, University of the Philippines Manila - National Institutes of Health (UPM-NIH), Manila, 1000, Philippines.; Department of Otorhinolaryngology, University of the Philippines College of Medicine - Philippine General Hospital, Manila, 1000, Philippines.

المصدر: Infectious diseases of poverty [Infect Dis Poverty] 2016 Nov 01; Vol. 5 (1), pp. 97. Date of Electronic Publication: 2016 Nov 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101606645 Publication Model: Electronic Cited Medium: Internet ISSN: 2049-9957 (Electronic) Linking ISSN: 20499957 NLM ISO Abbreviation: Infect Dis Poverty Subsets: MEDLINE

مواضيع طبية MeSH: Microbiota*, DNA, Bacterial/*genetics , Ear, Middle/*microbiology , Genes, Duplicate/*genetics , Otitis Media/*genetics , RNA, Ribosomal, 16S/*genetics , alpha-Macroglobulins/*genetics, Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Male ; Otitis Media/microbiology ; Philippines ; Population Groups ; Sequence Analysis, DNA ; Young Adult ; alpha-Macroglobulins/metabolism

المؤلفون: Rehman AU; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, 20892., Bird JE; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, 20892., Faridi R; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, 20892.; Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, 54550, Pakistan., Shahzad M; Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, Maryland, 21201., Shah S; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, 20892., Lee K; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030., Khan SN; Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, 54550, Pakistan., Imtiaz A; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, 20892., Ahmed ZM; Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, Maryland, 21201., Riazuddin S; Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, Maryland, 21201., Santos-Cortez RL; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030., Ahmad W; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, 45320, Pakistan., Leal SM; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030., Riazuddin S; Allama Iqbal Medical Research Centre, Jinnah Hospital Complex, University of Health Sciences, Lahore, 54550, Pakistan., Friedman TB; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, 20892. friedman@nidcd.nih.gov.

المصدر: Human mutation [Hum Mutat] 2016 Oct; Vol. 37 (10), pp. 991-1003. Date of Electronic Publication: 2016 Aug 21.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Deafness/*genetics , Deafness/*pathology , Myosins/*genetics , Myosins/*metabolism, Alternative Splicing ; Animals ; Deafness/metabolism ; Disease Models, Animal ; Ear, Inner/growth & development ; Ear, Inner/metabolism ; Ear, Inner/pathology ; Exons ; Gene Expression Regulation, Developmental ; Humans ; Mice ; Stereocilia/metabolism ; Stereocilia/pathology

المؤلفون: Lebeko K; Division of Human Genetics, Department of Pathology, Faculty of Health Sciences University of Cape Town, Cape Town, South Africa., Sloan-Heggen CM; Department of Otolaryngology, Molecular Otolaryngology and Renal Research Laboratories, The University of Iowa, Iowa City, IA, USA., Noubiap JJ; Department of Medicine, Faculty of Health Sciences University of Cape Town, Cape Town, South Africa., Dandara C; Division of Human Genetics, Department of Pathology, Faculty of Health Sciences University of Cape Town, Cape Town, South Africa., Kolbe DL; Department of Otolaryngology, Molecular Otolaryngology and Renal Research Laboratories, The University of Iowa, Iowa City, IA, USA., Ephraim SS; Department of Otolaryngology, Molecular Otolaryngology and Renal Research Laboratories, The University of Iowa, Iowa City, IA, USA., Booth KT; Department of Otolaryngology, Molecular Otolaryngology and Renal Research Laboratories, The University of Iowa, Iowa City, IA, USA., Azaiez H; Department of Otolaryngology, Molecular Otolaryngology and Renal Research Laboratories, The University of Iowa, Iowa City, IA, USA., Santos-Cortez RL; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Leal SM; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Smith RJ; Department of Otolaryngology, Molecular Otolaryngology and Renal Research Laboratories, The University of Iowa, Iowa City, IA, USA., Wonkam A; Division of Human Genetics, Department of Pathology, Faculty of Health Sciences University of Cape Town, Cape Town, South Africa.; Department of Medicine, Faculty of Health Sciences University of Cape Town, Cape Town, South Africa.

المصدر: Clinical genetics [Clin Genet] 2016 Sep; Vol. 90 (3), pp. 288-90. Date of Electronic Publication: 2016 Jun 01.

نوع المنشور: Letter; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

مواضيع طبية MeSH: High-Throughput Nucleotide Sequencing*, Connexins/*genetics , Deafness/*genetics, Cameroon ; Deafness/physiopathology ; Female ; Genomics ; Genotype ; Humans ; Male ; Mutation ; Pedigree

SCR Disease Name: Nonsyndromic Deafness

المؤلفون: Ansar M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Jan A; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, Pakistan., Santos-Cortez RL; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Wang X; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Suliman M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Acharya A; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Habib R; Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan., Abbe I; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Ali G; Department of Biotechnology, University of Azad Jammu and Kashmir, Muzaffarabad, Pakistan., Lee K; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Smith JD; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Shendure J; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Bamshad MJ; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Ahmad W; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Leal SM; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

مؤلفون مشاركون: University of Washington Center for Mendelian Genomics

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2016 Aug; Vol. 24 (8), pp. 1223-7. Date of Electronic Publication: 2015 Dec 23.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Phenotype*, Alopecia/*genetics , Integrin beta Chains/*genetics , Intellectual Disability/*genetics , Tooth Abnormalities/*genetics, Adolescent ; Adult ; Alopecia/diagnosis ; Child ; Female ; Humans ; Integrin beta Chains/chemistry ; Intellectual Disability/diagnosis ; Male ; Mutation, Missense ; Pedigree ; Protein Domains ; Syndrome ; Tooth Abnormalities/diagnosis

المؤلفون: van 't Hof FN; Utrecht Stroke Center, Department of Neurology and Neurosurgery, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands., Ruigrok YM; Utrecht Stroke Center, Department of Neurology and Neurosurgery, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands., Lee CH; Department of Convergence Medicine, University of Ulsan College of Medicine and Asan Institute for Life Sciences Asan Medical Center, Seoul, Korea Department of Neurosurgery, Helsinki University Central Hospital, Helsinki, Finland., Ripke S; Analytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA Department of Psychiatry and Psychotherapy, Charité, Universitätsmedizin Berlin, Berlin, Germany., Anderson G; The George Institute for International Health, University of Sydney, Australia., de Andrade M; Mayo Clinic, Rochester, NY., Baas AF; Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands., Blankensteijn JD; Department of Vascular Surgery, VU Medical Center, Amsterdam, The Netherlands., Böttinger EP; Icahn School of Medicine Mount Sinai, The Charles Bronfman Institute for Personalized Medicine, New York, NY., Bown MJ; Department of Cardiovascular Sciences and the NIHR Leicester Cardiovascular Biomedical Research Unit, University of Leicester, United Kingdom., Broderick J; Department of Neurology, University of Cincinnati School of Medicine, Cincinnati, OH., Bijlenga P; Hôpitaux Universitaire de Genève et Faculté de médecine de Genève, Geneva, Switzerland., Carrell DS; Group Health Research Institute, Seattle, WA., Crawford DC; Department of Epidemiology and Biostatistics, Institute for Computational Biology, Case Western Reserve University, Cleveland, OH Center for Human Genetics Research, Vanderbilt University, Nashville, TN., Crosslin DR; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA., Ebeling C; Fraunhofer Institut Algorithmen und Wissenschaftliches Rechnen, Sankt Augustin, Germany., Eriksson JG; Department of Chronic Disease Prevention, National Institute for Health and Welfare, Helsinki, Finland Folkhälsan Research Center, Helsinki, Finland Department of General Practice and Primary Health Care, and Helsinki University Hospital, University of Helsinki, Finland., Fornage M; Human Genetics Center and Institute of Molecular Medicine, University of Texas Health Science Center, Houston, TX., Foroud T; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN., von Und Zu Fraunberg M; Neurosurgery of NeuroCenter, Kuopio University Hospital, Kuopio, Finland., Friedrich CM; Department of Computer Science, University of Applied Science and Arts, Dortmund, Germany., Gaál EI; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Finland Public Health Genomics Unit, Department of Chronic Disease Prevention, National Institute for Health and Welfare, Helsinki, Finland Department of Neurosurgery, Helsinki University Central Hospital, Helsinki, Finland., Gottesman O; Icahn School of Medicine Mount Sinai, The Charles Bronfman Institute for Personalized Medicine, New York, NY., Guo DC; Department of Internal Medicine, The University of Texas Medical School at Houston, TX., Harrison SC; Department of Cardiovascular Science, University of Leicester, United Kingdom., Hernesniemi J; Department of Neurosurgery, Helsinki University Central Hospital, Helsinki, Finland., Hofman A; Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands., Inoue I; Division of Human Genetics, National Institute of Genetics, Mishima, Japan., Jääskeläinen JE; Neurosurgery of NeuroCenter, Kuopio University Hospital, Kuopio, Finland., Jones GT; Surgery Department, University of Otago, Dunedin, New Zealand., Kiemeney LA; Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, The Netherlands., Kivisaari R; Department of Neurosurgery, Helsinki University Central Hospital, Helsinki, Finland., Ko N; Department of Neurology, University of California, San Francisco, CA., Koskinen S; Department of Health, Functional Capacity and Welfare, National Institute for Health and Welfare, Helsinki, Finland., Kubo M; Center for Integrative Medical Sciences, RIKEN, Kanagawa, Japan., Kullo IJ; Mayo Clinic, Rochester, NY., Kuivaniemi H; Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, The Netherlands The Sigfried and Janet Weis Center for Research, Geisinger Health System, Danville, PA Department of Surgery, Temple University School of Medicine, Philadelphia, PA Department of Biomedical Sciences, Stellenbosch University, Tygerberg, South Africa., Kurki MI; Neurosurgery of NeuroCenter, Kuopio University Hospital, Kuopio, Finland Center for Human Genetics Research, Massachusetts General Hospital, Boston, MA Medical and Population Genetics Program, Broad Institute, Boston, MA., Laakso A; Public Health Genomics Unit, Department of Chronic Disease Prevention, National Institute for Health and Welfare, Helsinki, Finland., Lai D; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN., Leal SM; Center for Statistical Genetics, Baylor College of Medicine, Houston, TX., Lehto H; Department of Neurosurgery, Helsinki University Central Hospital, Helsinki, Finland., LeMaire SA; Michael E. DeBakey Department of Surgery, Baylor College of Medicine and the Texas Heart Institute, Houston, TX., Low SK; Center for Integrative Medical Sciences, RIKEN, Kanagawa, Japan., Malinowski J; Center for Human Genetics Research, Vanderbilt University, Nashville, TN Department of Surgery, Yale School of Medicine, New Haven, CT., McCarty CA; Research Division, Essentia Institute of Rural Health, Duluth, MN., Milewicz DM; Department of Internal Medicine, The University of Texas Medical School at Houston, TX., Mosley TH; Department of Medicine, University of Mississippi Medical Center, Jackson, MS., Nakamura Y; Section of Hematology and Oncology, Department of Medicine, University of Chicago, IL., Nakaoka H; Division of Human Genetics, National Institute of Genetics, Mishima, Japan., Niemelä M; Department of Neurosurgery, Helsinki University Central Hospital, Helsinki, Finland., Pacheco J; Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL., Peissig PL; Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, WI., Pera J; Department of Neurology, Jagiellonian University, Krakow, Poland., Rasmussen-Torvik L; Department of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL., Ritchie MD; Center for Systems Genomics, The Pennsylvania State University, Pennsylvania, PA., Rivadeneira F; Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands., van Rij AM; Surgery Department, University of Otago, Dunedin, New Zealand., Santos-Cortez RL; Center for Statistical Genetics, Baylor College of Medicine, Houston, TX., Saratzis A; Department of Cardiovascular Sciences and the NIHR Leicester Cardiovascular Biomedical Research Unit, University of Leicester, United Kingdom., Slowik A; Department of Neurology, Jagiellonian University, Krakow, Poland., Takahashi A; Center for Integrative Medical Sciences, RIKEN, Kanagawa, Japan., Tromp G; The Sigfried and Janet Weis Center for Research, Geisinger Health System, Danville, PA Department of Biomedical Sciences, Stellenbosch University, Tygerberg, South Africa., Uitterlinden AG; Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands., Verma SS; Center for Systems Genomics, The Pennsylvania State University, Pennsylvania, PA., Vermeulen SH; Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, The Netherlands., Wang GT; Center for Statistical Genetics, Baylor College of Medicine, Houston, TX., Han B; Department of Convergence Medicine, University of Ulsan College of Medicine and Asan Institute for Life Sciences Asan Medical Center, Seoul, Korea., Rinkel GJ; Utrecht Stroke Center, Department of Neurology and Neurosurgery, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands., de Bakker PI; Department of Epidemiology, Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, The Netherlands pdebakker@umcutrecht.nl.

مؤلفون مشاركون: Aneurysm Consortium; Vascular Research Consortium of New Zealand

المصدر: Journal of the American Heart Association [J Am Heart Assoc] 2016 Jul 14; Vol. 5 (7). Date of Electronic Publication: 2016 Jul 14.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101580524 Publication Model: Electronic Cited Medium: Internet ISSN: 2047-9980 (Electronic) Linking ISSN: 20479980 NLM ISO Abbreviation: J Am Heart Assoc Subsets: MEDLINE

مواضيع طبية MeSH: Aortic Aneurysm, Abdominal/*genetics , Aortic Aneurysm, Thoracic/*genetics , Intracranial Aneurysm/*genetics, Aged ; Case-Control Studies ; Cohort Studies ; Female ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Linkage Disequilibrium ; Male ; Middle Aged ; Odds Ratio ; Polymorphism, Single Nucleotide ; Risk Factors

المؤلفون: Regalado ES; Division of Medical Genetics, Department of Internal Medicine, University of Texas Health Science Center at Houston (UTHealth), Houston, TX, USA., Guo DC; Division of Medical Genetics, Department of Internal Medicine, University of Texas Health Science Center at Houston (UTHealth), Houston, TX, USA., Santos-Cortez RL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Hostetler E; Division of Medical Genetics, Department of Internal Medicine, University of Texas Health Science Center at Houston (UTHealth), Houston, TX, USA., Bensend TA; Division of Medical Genetics, Department of Internal Medicine, University of Texas Health Science Center at Houston (UTHealth), Houston, TX, USA., Pannu H; Division of Medical Genetics, Department of Internal Medicine, University of Texas Health Science Center at Houston (UTHealth), Houston, TX, USA., Estrera A; Department of Cardiothoracic and Vascular Surgery, University of Texas Health Science Center at Houston, Houston, TX, USA., Safi H; Department of Cardiothoracic and Vascular Surgery, University of Texas Health Science Center at Houston, Houston, TX, USA., Mitchell AL; Department of Genetics and Genome Sciences, University Hospitals of Cleveland, Cleveland, OH, USA., Evans JP; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Leal SM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Bamshad M; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Shendure J; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Milewicz DM; Division of Medical Genetics, Department of Internal Medicine, University of Texas Health Science Center at Houston (UTHealth), Houston, TX, USA.

مؤلفون مشاركون: University of Washington Center for Mendelian Genomics

المصدر: Clinical genetics [Clin Genet] 2016 Jun; Vol. 89 (6), pp. 719-23. Date of Electronic Publication: 2016 Jan 20.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Aortic Dissection/*genetics , Aortic Aneurysm, Thoracic/*genetics , Fibrillin-1/*genetics , Genetic Predisposition to Disease/*genetics, Adult ; Aged ; Aortic Dissection/pathology ; Aortic Aneurysm, Thoracic/pathology ; Exome/genetics ; Family Health ; Female ; Humans ; Male ; Marfan Syndrome/genetics ; Marfan Syndrome/pathology ; Middle Aged ; Pedigree ; Sequence Analysis, DNA/methods

SCR Disease Name: Aortic Aneurysm, Familial Thoracic 1

المؤلفون: Ullah R; Department of Biotechnology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Ansar M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Durrani ZU; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Lee K; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Santos-Cortez RL; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Muhammad D; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Ali M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Zia M; Department of Biotechnology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Ayub M; Institute of Biochemistry, University of Baluchistan, Quetta, Pakistan., Khan S; Department of Biotechnology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Smith JD; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Shendure J; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Bamshad M; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Leal SM; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Ahmad W; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

المصدر: International journal of dermatology [Int J Dermatol] 2016 May; Vol. 55 (5), pp. 524-30. Date of Electronic Publication: 2015 Nov 17.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Blackwell Science Country of Publication: England NLM ID: 0243704 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-4632 (Electronic) Linking ISSN: 00119059 NLM ISO Abbreviation: Int J Dermatol Subsets: MEDLINE

مواضيع طبية MeSH: Ichthyosiform Erythroderma, Congenital/*genetics , Ichthyosis, Lamellar/*genetics , Lipoxygenase/*genetics , Transglutaminases/*genetics, Adolescent ; Chromosomes, Human, Pair 14 ; Chromosomes, Human, Pair 17 ; Codon, Nonsense ; Consanguinity ; Female ; Gene Rearrangement ; Genotype ; Humans ; Male ; Mutation, Missense ; Pakistan ; Pedigree ; Phenotype ; Young Adult

المؤلفون: Guo DC; From the Departments of Internal Medicine (D.G., E.S.R., L.G., X.D., Z.R., B.C., E.M.H., D.M.M.) and Cardiothoracic and Vascular Surgery (A.E., H.J.S.), University of Texas Health Science Center, Houston; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX (R.L.P.S.-C., S.M.L.); Laboratory for Vascular Translational Science, INSERM U1148, Hôpital Bichat, Paris, France (P.A., G.J., C.B.); Centre National de Référence pour le syndrome de Marfan et apparentés, Département de Génétique Moléculaire, AP-HP, Hôpital Bichat, Paris, France (P.A., C.B.); Department of Pediatrics, MetroHealth Medical Center, Cleveland, OH (R.M.); Department of Medicine, Stanford University Medical Center, CA (D.L.); and Department of Genome Sciences, University of Washington, Seattle (M.J.B., J.S., D.A.N.)., Regalado ES; From the Departments of Internal Medicine (D.G., E.S.R., L.G., X.D., Z.R., B.C., E.M.H., D.M.M.) and Cardiothoracic and Vascular Surgery (A.E., H.J.S.), University of Texas Health Science Center, Houston; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX (R.L.P.S.-C., S.M.L.); Laboratory for Vascular Translational Science, INSERM U1148, Hôpital Bichat, Paris, France (P.A., G.J., C.B.); Centre National de Référence pour le syndrome de Marfan et apparentés, Département de Génétique Moléculaire, AP-HP, Hôpital Bichat, Paris, France (P.A., C.B.); Department of Pediatrics, MetroHealth Medical Center, Cleveland, OH (R.M.); Department of Medicine, Stanford University Medical Center, CA (D.L.); and Department of Genome Sciences, University of Washington, Seattle (M.J.B., J.S., D.A.N.)., Gong L; From the Departments of Internal Medicine (D.G., E.S.R., L.G., X.D., Z.R., B.C., E.M.H., D.M.M.) and Cardiothoracic and Vascular Surgery (A.E., H.J.S.), University of Texas Health Science Center, Houston; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX (R.L.P.S.-C., S.M.L.); Laboratory for Vascular Translational Science, INSERM U1148, Hôpital Bichat, Paris, France (P.A., G.J., C.B.); Centre National de Référence pour le syndrome de Marfan et apparentés, Département de Génétique Moléculaire, AP-HP, Hôpital Bichat, Paris, France (P.A., C.B.); Department of Pediatrics, MetroHealth Medical Center, Cleveland, OH (R.M.); Department of Medicine, Stanford University Medical Center, CA (D.L.); and Department of Genome Sciences, University of Washington, Seattle (M.J.B., J.S., D.A.N.)., Duan X; From the Departments of Internal Medicine (D.G., E.S.R., L.G., X.D., Z.R., B.C., E.M.H., D.M.M.) and Cardiothoracic and Vascular Surgery (A.E., H.J.S.), University of Texas Health Science Center, Houston; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX (R.L.P.S.-C., S.M.L.); Laboratory for Vascular Translational Science, INSERM U1148, Hôpital Bichat, Paris, France (P.A., G.J., C.B.); Centre National de Référence pour le syndrome de Marfan et apparentés, Département de Génétique Moléculaire, AP-HP, Hôpital Bichat, Paris, France (P.A., C.B.); Department of Pediatrics, MetroHealth Medical Center, Cleveland, OH (R.M.); Department of Medicine, Stanford University Medical Center, CA (D.L.); and Department of Genome Sciences, University of Washington, Seattle (M.J.B., J.S., D.A.N.)., Santos-Cortez RL; From the Departments of Internal Medicine (D.G., E.S.R., L.G., X.D., Z.R., B.C., E.M.H., D.M.M.) and Cardiothoracic and Vascular Surgery (A.E., H.J.S.), University of Texas Health Science Center, Houston; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX (R.L.P.S.-C., S.M.L.); Laboratory for Vascular Translational Science, INSERM U1148, Hôpital Bichat, Paris, France (P.A., G.J., C.B.); Centre National de Référence pour le syndrome de Marfan et apparentés, Département de Génétique Moléculaire, AP-HP, Hôpital Bichat, Paris, France (P.A., C.B.); Department of Pediatrics, MetroHealth Medical Center, Cleveland, OH (R.M.); Department of Medicine, Stanford University Medical Center, CA (D.L.); and Department of Genome Sciences, University of Washington, Seattle (M.J.B., J.S., D.A.N.)., Arnaud P; From the Departments of Internal Medicine (D.G., E.S.R., L.G., X.D., Z.R., B.C., E.M.H., D.M.M.) and Cardiothoracic and Vascular Surgery (A.E., H.J.S.), University of Texas Health Science Center, Houston; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX (R.L.P.S.-C., S.M.L.); Laboratory for Vascular Translational Science, INSERM U1148, Hôpital Bichat, Paris, France (P.A., G.J., C.B.); Centre National de Référence pour le syndrome de Marfan et apparentés, Département de Génétique Moléculaire, AP-HP, Hôpital Bichat, Paris, France (P.A., C.B.); Department of Pediatrics, MetroHealth Medical Center, Cleveland, OH (R.M.); Department of Medicine, Stanford University Medical Center, CA (D.L.); and Department of Genome Sciences, University of Washington, Seattle (M.J.B., J.S., D.A.N.)., Ren Z; From the Departments of Internal Medicine (D.G., E.S.R., L.G., X.D., Z.R., B.C., E.M.H., D.M.M.) and Cardiothoracic and Vascular Surgery (A.E., H.J.S.), University of Texas Health Science Center, Houston; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX (R.L.P.S.-C., S.M.L.); Laboratory for Vascular Translational Science, INSERM U1148, Hôpital Bichat, Paris, France (P.A., G.J., C.B.); Centre National de Référence pour le syndrome de Marfan et apparentés, Département de Génétique Moléculaire, AP-HP, Hôpital Bichat, Paris, France (P.A., C.B.); Department of Pediatrics, MetroHealth Medical Center, Cleveland, OH (R.M.); Department of Medicine, Stanford University Medical Center, CA (D.L.); and Department of Genome Sciences, University of Washington, Seattle (M.J.B., J.S., D.A.N.)., Cai B; From the Departments of Internal Medicine (D.G., E.S.R., L.G., X.D., Z.R., B.C., E.M.H., D.M.M.) and Cardiothoracic and Vascular Surgery (A.E., H.J.S.), University of Texas Health Science Center, Houston; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX (R.L.P.S.-C., S.M.L.); Laboratory for Vascular Translational Science, INSERM U1148, Hôpital Bichat, Paris, France (P.A., G.J., C.B.); Centre National de Référence pour le syndrome de Marfan et apparentés, Département de Génétique Moléculaire, AP-HP, Hôpital Bichat, Paris, France (P.A., C.B.); Department of Pediatrics, MetroHealth Medical Center, Cleveland, OH (R.M.); Department of Medicine, Stanford University Medical Center, CA (D.L.); and Department of Genome Sciences, University of Washington, Seattle (M.J.B., J.S., D.A.N.)., Hostetler EM; From the Departments of Internal Medicine (D.G., E.S.R., L.G., X.D., Z.R., B.C., E.M.H., D.M.M.) and Cardiothoracic and Vascular Surgery (A.E., H.J.S.), University of Texas Health Science Center, Houston; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX (R.L.P.S.-C., S.M.L.); Laboratory for Vascular Translational Science, INSERM U1148, Hôpital Bichat, Paris, France (P.A., G.J., C.B.); Centre National de Référence pour le syndrome de Marfan et apparentés, Département de Génétique Moléculaire, AP-HP, Hôpital Bichat, Paris, France (P.A., C.B.); Department of Pediatrics, MetroHealth Medical Center, Cleveland, OH (R.M.); Department of Medicine, Stanford University Medical Center, CA (D.L.); and Department of Genome Sciences, University of Washington, Seattle (M.J.B., J.S., D.A.N.)., Moran R; From the Departments of Internal Medicine (D.G., E.S.R., L.G., X.D., Z.R., B.C., E.M.H., D.M.M.) and Cardiothoracic and Vascular Surgery (A.E., H.J.S.), University of Texas Health Science Center, Houston; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX (R.L.P.S.-C., S.M.L.); Laboratory for Vascular Translational Science, INSERM U1148, Hôpital Bichat, Paris, France (P.A., G.J., C.B.); Centre National de Référence pour le syndrome de Marfan et apparentés, Département de Génétique Moléculaire, AP-HP, Hôpital Bichat, Paris, France (P.A., C.B.); Department of Pediatrics, MetroHealth Medical Center, Cleveland, OH (R.M.); Department of Medicine, Stanford University Medical Center, CA (D.L.); and Department of Genome Sciences, University of Washington, Seattle (M.J.B., J.S., D.A.N.)., Liang D; From the Departments of Internal Medicine (D.G., E.S.R., L.G., X.D., Z.R., B.C., E.M.H., D.M.M.) and Cardiothoracic and Vascular Surgery (A.E., H.J.S.), University of Texas Health Science Center, Houston; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX (R.L.P.S.-C., S.M.L.); Laboratory for Vascular Translational Science, INSERM U1148, Hôpital Bichat, Paris, France (P.A., G.J., C.B.); Centre National de Référence pour le syndrome de Marfan et apparentés, Département de Génétique Moléculaire, AP-HP, Hôpital Bichat, Paris, France (P.A., C.B.); Department of Pediatrics, MetroHealth Medical Center, Cleveland, OH (R.M.); Department of Medicine, Stanford University Medical Center, CA (D.L.); and Department of Genome Sciences, University of Washington, Seattle (M.J.B., J.S., D.A.N.)., Estrera A; From the Departments of Internal Medicine (D.G., E.S.R., L.G., X.D., Z.R., B.C., E.M.H., D.M.M.) and Cardiothoracic and Vascular Surgery (A.E., H.J.S.), University of Texas Health Science Center, Houston; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX (R.L.P.S.-C., S.M.L.); Laboratory for Vascular Translational Science, INSERM U1148, Hôpital Bichat, Paris, France (P.A., G.J., C.B.); Centre National de Référence pour le syndrome de Marfan et apparentés, Département de Génétique Moléculaire, AP-HP, Hôpital Bichat, Paris, France (P.A., C.B.); Department of Pediatrics, MetroHealth Medical Center, Cleveland, OH (R.M.); Department of Medicine, Stanford University Medical Center, CA (D.L.); and Department of Genome Sciences, University of Washington, Seattle (M.J.B., J.S., D.A.N.)., Safi HJ; From the Departments of Internal Medicine (D.G., E.S.R., L.G., X.D., Z.R., B.C., E.M.H., D.M.M.) and Cardiothoracic and Vascular Surgery (A.E., H.J.S.), University of Texas Health Science Center, Houston; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX (R.L.P.S.-C., S.M.L.); Laboratory for Vascular Translational Science, INSERM U1148, Hôpital Bichat, Paris, France (P.A., G.J., C.B.); Centre National de Référence pour le syndrome de Marfan et apparentés, Département de Génétique Moléculaire, AP-HP, Hôpital Bichat, Paris, France (P.A., C.B.); Department of Pediatrics, MetroHealth Medical Center, Cleveland, OH (R.M.); Department of Medicine, Stanford University Medical Center, CA (D.L.); and Department of Genome Sciences, University of Washington, Seattle (M.J.B., J.S., D.A.N.)., Leal SM; From the Departments of Internal Medicine (D.G., E.S.R., L.G., X.D., Z.R., B.C., E.M.H., D.M.M.) and Cardiothoracic and Vascular Surgery (A.E., H.J.S.), University of Texas Health Science Center, Houston; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX (R.L.P.S.-C., S.M.L.); Laboratory for Vascular Translational Science, INSERM U1148, Hôpital Bichat, Paris, France (P.A., G.J., C.B.); Centre National de Référence pour le syndrome de Marfan et apparentés, Département de Génétique Moléculaire, AP-HP, Hôpital Bichat, Paris, France (P.A., C.B.); Department of Pediatrics, MetroHealth Medical Center, Cleveland, OH (R.M.); Department of Medicine, Stanford University Medical Center, CA (D.L.); and Department of Genome Sciences, University of Washington, Seattle (M.J.B., J.S., D.A.N.)., Bamshad MJ; From the Departments of Internal Medicine (D.G., E.S.R., L.G., X.D., Z.R., B.C., E.M.H., D.M.M.) and Cardiothoracic and Vascular Surgery (A.E., H.J.S.), University of Texas Health Science Center, Houston; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX (R.L.P.S.-C., S.M.L.); Laboratory for Vascular Translational Science, INSERM U1148, Hôpital Bichat, Paris, France (P.A., G.J., C.B.); Centre National de Référence pour le syndrome de Marfan et apparentés, Département de Génétique Moléculaire, AP-HP, Hôpital Bichat, Paris, France (P.A., C.B.); Department of Pediatrics, MetroHealth Medical Center, Cleveland, OH (R.M.); Department of Medicine, Stanford University Medical Center, CA (D.L.); and Department of Genome Sciences, University of Washington, Seattle (M.J.B., J.S., D.A.N.)., Shendure J; From the Departments of Internal Medicine (D.G., E.S.R., L.G., X.D., Z.R., B.C., E.M.H., D.M.M.) and Cardiothoracic and Vascular Surgery (A.E., H.J.S.), University of Texas Health Science Center, Houston; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX (R.L.P.S.-C., S.M.L.); Laboratory for Vascular Translational Science, INSERM U1148, Hôpital Bichat, Paris, France (P.A., G.J., C.B.); Centre National de Référence pour le syndrome de Marfan et apparentés, Département de Génétique Moléculaire, AP-HP, Hôpital Bichat, Paris, France (P.A., C.B.); Department of Pediatrics, MetroHealth Medical Center, Cleveland, OH (R.M.); Department of Medicine, Stanford University Medical Center, CA (D.L.); and Department of Genome Sciences, University of Washington, Seattle (M.J.B., J.S., D.A.N.)., Nickerson DA; From the Departments of Internal Medicine (D.G., E.S.R., L.G., X.D., Z.R., B.C., E.M.H., D.M.M.) and Cardiothoracic and Vascular Surgery (A.E., H.J.S.), University of Texas Health Science Center, Houston; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX (R.L.P.S.-C., S.M.L.); Laboratory for Vascular Translational Science, INSERM U1148, Hôpital Bichat, Paris, France (P.A., G.J., C.B.); Centre National de Référence pour le syndrome de Marfan et apparentés, Département de Génétique Moléculaire, AP-HP, Hôpital Bichat, Paris, France (P.A., C.B.); Department of Pediatrics, MetroHealth Medical Center, Cleveland, OH (R.M.); Department of Medicine, Stanford University Medical Center, CA (D.L.); and Department of Genome Sciences, University of Washington, Seattle (M.J.B., J.S., D.A.N.)., Jondeau G; From the Departments of Internal Medicine (D.G., E.S.R., L.G., X.D., Z.R., B.C., E.M.H., D.M.M.) and Cardiothoracic and Vascular Surgery (A.E., H.J.S.), University of Texas Health Science Center, Houston; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX (R.L.P.S.-C., S.M.L.); Laboratory for Vascular Translational Science, INSERM U1148, Hôpital Bichat, Paris, France (P.A., G.J., C.B.); Centre National de Référence pour le syndrome de Marfan et apparentés, Département de Génétique Moléculaire, AP-HP, Hôpital Bichat, Paris, France (P.A., C.B.); Department of Pediatrics, MetroHealth Medical Center, Cleveland, OH (R.M.); Department of Medicine, Stanford University Medical Center, CA (D.L.); and Department of Genome Sciences, University of Washington, Seattle (M.J.B., J.S., D.A.N.)., Boileau C; From the Departments of Internal Medicine (D.G., E.S.R., L.G., X.D., Z.R., B.C., E.M.H., D.M.M.) and Cardiothoracic and Vascular Surgery (A.E., H.J.S.), University of Texas Health Science Center, Houston; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX (R.L.P.S.-C., S.M.L.); Laboratory for Vascular Translational Science, INSERM U1148, Hôpital Bichat, Paris, France (P.A., G.J., C.B.); Centre National de Référence pour le syndrome de Marfan et apparentés, Département de Génétique Moléculaire, AP-HP, Hôpital Bichat, Paris, France (P.A., C.B.); Department of Pediatrics, MetroHealth Medical Center, Cleveland, OH (R.M.); Department of Medicine, Stanford University Medical Center, CA (D.L.); and Department of Genome Sciences, University of Washington, Seattle (M.J.B., J.S., D.A.N.)., Milewicz DM; From the Departments of Internal Medicine (D.G., E.S.R., L.G., X.D., Z.R., B.C., E.M.H., D.M.M.) and Cardiothoracic and Vascular Surgery (A.E., H.J.S.), University of Texas Health Science Center, Houston; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX (R.L.P.S.-C., S.M.L.); Laboratory for Vascular Translational Science, INSERM U1148, Hôpital Bichat, Paris, France (P.A., G.J., C.B.); Centre National de Référence pour le syndrome de Marfan et apparentés, Département de Génétique Moléculaire, AP-HP, Hôpital Bichat, Paris, France (P.A., C.B.); Department of Pediatrics, MetroHealth Medical Center, Cleveland, OH (R.M.); Department of Medicine, Stanford University Medical Center, CA (D.L.); and Department of Genome Sciences, University of Washington, Seattle (M.J.B., J.S., D.A.N.). Dianna.M.Milewicz@uth.tmc.edu.

مؤلفون مشاركون: University of Washington Center for Mendelian Genomics

المصدر: Circulation research [Circ Res] 2016 Mar 18; Vol. 118 (6), pp. 928-34. Date of Electronic Publication: 2016 Jan 12.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0047103 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1524-4571 (Electronic) Linking ISSN: 00097330 NLM ISO Abbreviation: Circ Res Subsets: MEDLINE

مواضيع طبية MeSH: Aortic Dissection/*genetics , Aortic Aneurysm, Thoracic/*genetics , Mutation/*genetics , Protein-Lysine 6-Oxidase/*genetics, Adult ; Aged ; Amino Acid Sequence ; Aortic Dissection/diagnosis ; Aortic Aneurysm, Thoracic/diagnosis ; Female ; Genetic Variation/genetics ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Pedigree