المؤلفون: Klockner, C, Sticht, H, Zacher, P, Popp, B, Babcock, HE, Bakker, DP, Barwick, K, Bonfert, MV, Bonnemann, CG, Brilstra, EH, Chung, WK, Clarke, AJ, Devine, P, Donkervoort, S, Fraser, JL, Friedman, J, Gates, A, Ghoumid, J, Hobson, E, Horvath, G, Keller-Ramey, J, Keren, B, Kurian, MA, Lee, V, Leppig, KA, Lundgren, J, McDonald, MT, McTague, A, Mefford, HC, Mignot, C, Mikati, MA, Nava, C, Raymond, FL, Sampson, JR, Sanchis-Juan, A, Shashi, V, Shieh, JTC, Shinawi, M, Slavotinek, A, Stodberg, T, Stong, N, Sullivan, JA, Taylor, AC, Toler, TL, van den Boogaard, MJ, van der Crabben, SN, van Gassen, KLI, van Jaarsveld, RH, Van Ziffle, J, Wadley, AF, Wagner, M, Wigby, K, Wortmann, SB, Zarate, YA, Moller, RS, Lemke, JR, Platzer, K

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 23(4):653-660

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:145338504

المؤلفون: Klockner, C, Sticht, H, Zacher, P, Popp, B, Babcock, HE, Bakker, DP, Barwick, K, Bonfert, MV, Bonnemann, CG, Brilstra, EH, Chung, WK, Clarke, AJ, Devine, P, Donkervoort, S, Fraser, JL, Friedman, J, Gates, A, Ghoumid, J, Hobson, E, Horvath, G, Keller-Ramey, J, Keren, B, Kurian, MA, Lee, VA, Leppig, KA, Lundgren, J, McDonald, MT, McLaughlin, HM, McTague, A, Mefford, HC, Mignot, C, Mikati, MA, Nava, C, Raymond, FL, Sampson, JR, Sanchis-Juan, A, Shashi, V, Shieh, JTC, Shinawi, M, Slavotinek, A, Stodberg, T, Stong, N, Sullivan, JA, Taylor, AC, Toler, TL, van den Boogaard, MJ, van der Crabben, SN, van Gassen, KLI, van Jaarsveld, RH, Van Ziffle, J, Wadley, AF, Wagner, M, Wigby, K, Wortmann, SB, Zarate, YA, Moller, RS, Lemke, JR, Platzer, K

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 23(7):796-796

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:146229962

المؤلفون: Wongkittichote P; Division of Genetics and Genomic Medicine, Department of Pediatrics, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO, USA; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Duque Lasio ML; Division of Genetics and Genomic Medicine, Department of Pediatrics, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO, USA., Magistrati M; Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy., Pathak S; Division of Pediatric Neurology, Department of Neurology, Washington University School of Medicine, St Louis, MO, USA., Sample B; HSHS St. Vincent Hospital, Green Bay, WI, USA., Carvalho DR; SARAH Network Rehabilitation Hospitals, Genetic Unit, Brasilia, Federal District, Brazil., Ortega AB; Hospital Infantil Pequeno Príncipe, Curitiba, Brazil., Castro MAA; Mendelics Genomic Analyses, Sao Paulo, Brazil; Neurogenetics Unit, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo HCFMUSP, São Paulo, SP, Brazil., de Gusmao CM; Mendelics Genomic Analyses, Sao Paulo, Brazil; Neurogenetics Unit, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo HCFMUSP, São Paulo, SP, Brazil., Toler TL; Division of Genetics and Genomic Medicine, Department of Pediatrics, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO, USA., Bellacchio E; Molecular Genetics and Functional Genomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Dallabona C; Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy. Electronic address: cristina.dallabona@unipr.it., Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO, USA. Electronic address: mshinawi@wustl.edu.

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2023 Aug; Vol. 139 (4), pp. 107630. Date of Electronic Publication: 2023 Jun 22.

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

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

مواضيع طبية MeSH: Mitochondrial Diseases*/metabolism , Ubiquinone*/metabolism, Humans ; Infant, Newborn ; Mitochondria/metabolism

SCR Disease Name: Coenzyme Q10 Deficiency

المؤلفون: Sagaser KG; Division of Maternal Fetal Medicine, Department of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Malinowski J; Write InSciTe, LLC, South Salem, New York, USA., Westerfield L; Department of Human and Molecular Genetics, Baylor College of Medicine, Texas Children's Pavilion for Women at Texas Children's Hospital, Houston, Texas, USA., Proffitt J; Invitae, San Francisco, California, USA., Hicks MA; Detroit Medical Center, Detroit, Michigan, USA., Toler TL; Division of Genetics & Genomic Medicine, Department of Pediatrics, Washington University School of Medicine in St. Louis, St. Louis, Missouri, USA., Blakemore KJ; Division of Maternal Fetal Medicine, Department of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Stevens BK; Department of Obstetrics, Gynecology and Reproductive Sciences, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA., Oakes LM; Guardant Health, Redwood City, California, USA.

المصدر: Journal of genetic counseling [J Genet Couns] 2023 Jun; Vol. 32 (3), pp. 540-557. Date of Electronic Publication: 2023 Feb 09.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3599 (Electronic) Linking ISSN: 10597700 NLM ISO Abbreviation: J Genet Couns Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Counseling* , Counselors*, Pregnancy ; Female ; Humans ; Child ; Genetic Carrier Screening ; Reproduction ; Societies

المؤلفون: Singh P; Division of Genetics and Genomic Medicine, Department of Pediatrics Washington University School of Medicine in St. Louis Saint Louis Missouri USA.; Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology University of Iowa, Roy J. and Lucille A. Carver College of Medicine Iowa City Iowa USA., Amaro D; Department of Pathology and Anatomical Sciences University of Missouri School of Medicine Columbia Missouri USA., Obi O; Division of Neonatology, Department of Child Health University of Missouri School of Medicine Columbia Missouri USA., Kiran F; Department of Pathology and Anatomical Sciences University of Missouri School of Medicine Columbia Missouri USA., Hediger E; Division of Genetics and Genomic Medicine, Department of Pediatrics Washington University School of Medicine in St. Louis Saint Louis Missouri USA., Toler TL; Division of Genetics and Genomic Medicine, Department of Pediatrics Washington University School of Medicine in St. Louis Saint Louis Missouri USA., Dickson PI; Division of Genetics and Genomic Medicine, Department of Pediatrics Washington University School of Medicine in St. Louis Saint Louis Missouri USA.; Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology University of Iowa, Roy J. and Lucille A. Carver College of Medicine Iowa City Iowa USA., Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics Washington University School of Medicine in St. Louis Saint Louis Missouri USA.

المصدر: JIMD reports [JIMD Rep] 2023 Apr 30; Vol. 64 (4), pp. 261-264. Date of Electronic Publication: 2023 Apr 30 (Print Publication: 2023).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE

المؤلفون: Lines MA; Medical Genetics, Department of Pediatrics, Alberta Children's Hospital, Calgary, AB, Canada.; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Cuillerier A; Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada., Chakraborty P; Metabolics and Newborn Screening, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Department of Pediatrics, University of Ottawa, Ottawa, ON, Canada.; Newborn Screening Ontario, Ottawa, ON, Canada., Naas T; Newborn Screening Ontario, Ottawa, ON, Canada., Duque Lasio ML; Division of Genetics & Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA., Michaud J; Department of Pathology and Laboratory Medicine, University of Ottawa, Ottawa, ON, Canada., Pileggi C; Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada., Harper ME; Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada., Burelle Y; Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada.; Interdisciplinary School of Health Sciences, Faculty of Health Sciences, University of Ottawa, Ottawa, ON, Canada., Toler TL; Division of Genetics & Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA., Sondheimer N; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Program in Genetics and Genome Biology Program, Sick Kids Research Institute, Toronto, ON, Canada.; Departments of Pediatrics and Molecular Genetics, University of Toronto, Toronto, ON, Canada., Crawford HP; Innovative Genetics Care, The Woodlands, TX, USA., Millan F; GeneDx, Gaithersburg, MD, USA., Geraghty MT; Metabolics and Newborn Screening, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada. mgeraghty@cheo.on.ca.; Department of Pediatrics, University of Ottawa, Ottawa, ON, Canada. mgeraghty@cheo.on.ca.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Nov; Vol. 29 (11), pp. 1719-1724. Date of Electronic Publication: 2021 Sep 06.

نوع المنشور: Case Reports; Journal Article; 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: Mitochondrial Diseases/*genetics , Mitochondrial Proton-Translocating ATPases/*metabolism, Catalytic Domain ; Cells, Cultured ; Child, Preschool ; Female ; Fibroblasts/metabolism ; Humans ; Infant ; Male ; Mitochondrial Diseases/metabolism ; Mitochondrial Diseases/pathology ; Mitochondrial Proton-Translocating ATPases/chemistry ; Mitochondrial Proton-Translocating ATPases/genetics ; Mutation ; Phenotype

المؤلفون: Harris HK; Division of Developmental Medicine, Department of Medicine, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Baylor College of Medicine and Meyer Center for Developmental Pediatrics, Texas Children's Hospital, Houston, TX, USA., Nakayama T; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Lai J; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Program in Neuroscience, Harvard University, Boston, MA, USA., Zhao B; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Argyrou N; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Gubbels CS; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Soucy A; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Genetti CA; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Suslovitch V; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Rodan LH; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Tiller GE; Department of Genetics, Kaiser Permanente, Los Angeles, CA, USA., Lesca G; Department of Medical Genetics, Lyon University Hospital, Bron, France., Gripp KW; Division of Medical Genetics, Nemours/A.I. DuPont Hospital for Children, Wilmington, DE, USA., Asadollahi R; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Hamosh A; Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA., Applegate CD; Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA., Turnpenny PD; Peninsula Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Simon MEH; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Volker-Touw CML; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Gassen KLIV; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Binsbergen EV; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Gardeitchik T; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Vries BBA; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Immken LL; Dell Children's Medical Group, Department of Clinical and Metabolic Genetics, Austin, TX, USA., Buchanan C; Dell Children's Medical Group, Department of Clinical and Metabolic Genetics, Austin, TX, USA., Willing M; Division of Genetics and Genomic Medicine, Washington University School of Medicine in St. Louis, St. Louis, MO, USA., Toler TL; Division of Genetics and Genomic Medicine, Washington University School of Medicine in St. Louis, St. Louis, MO, USA., Fassi E; Division of Genetics and Genomic Medicine, Washington University School of Medicine in St. Louis, St. Louis, MO, USA., Baker L; Division of Medical Genetics, Nemours/A.I. DuPont Hospital for Children, Wilmington, DE, USA., Vansenne F; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands., Wang X; Ciphergene, Beijing, China., Ambrus JL Jr; Division of Allergy, Immunology, and Rheumatology, SUNY at Buffalo School of Medicine, Buffalo, NY, USA., Fannemel M; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Agolini E; Laboratory of Medical Genetics, Bambino Gesu Children's Hospital, Rome, Italy., Novelli A; Laboratory of Medical Genetics, Bambino Gesu Children's Hospital, Rome, Italy., Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Boonsawat P; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Fagerberg CR; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Larsen MJ; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Kibaek M; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Labalme A; Department of Medical Genetics, Lyon University Hospital, Bron, France., Poisson A; Department of Medical Genetics, Lyon University Hospital, Bron, France., Payne KK; Department of Neurology, Indiana University Health Neuroscience Center, Indianapolis, IN, USA., Walsh LE; Department of Neurology, Indiana University Health Neuroscience Center, Indianapolis, IN, USA.; Department of Medical and Molecular Genetics, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA., Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Balciuniene J; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Skraban C; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Gray C; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Murrell J; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Bupp CP; Spectrum Health Helen DeVos Children's Hospital, Grand Rapids, MI, USA., Pascolini G; Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Roma, Italy., Grammatico P; Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Roma, Italy., Broly M; CHU Nantes, Service de Génétique Médicale, Nantes, France; L'institut du thorax, INSERM, CNRS, UNIV Nantes, CHU Nantes, Nantes, France., Küry S; CHU Nantes, Service de Génétique Médicale, Nantes, France; L'institut du thorax, INSERM, CNRS, UNIV Nantes, CHU Nantes, Nantes, France., Nizon M; CHU Nantes, Service de Génétique Médicale, Nantes, France; L'institut du thorax, INSERM, CNRS, UNIV Nantes, CHU Nantes, Nantes, France., Rasool IG; Institute of Biochemistry & Biotechnology, University of Veterinary & Animal Sciences, Lahore, Pakistan.; Institute of Human Genetics, University of Erlangen-Nuremberg, Erlangen, Germany., Zahoor MY; Institute of Biochemistry & Biotechnology, University of Veterinary & Animal Sciences, Lahore, Pakistan., Kraus C; Institute of Human Genetics, University of Erlangen-Nuremberg, Erlangen, Germany., Reis A; Institute of Human Genetics, University of Erlangen-Nuremberg, Erlangen, Germany., Iqbal M; Department of Biochemistry and Biotechnology, The Islamia University of Bahawalpur, Punjab, Pakistan., Uguen K; Department of Medical Genetics, Brest University Hospital, Brest, France.; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Audebert-Bellanger S; Department of Medical Genetics, Brest University Hospital, Brest, France., Ferec C; Department of Medical Genetics, Brest University Hospital, Brest, France.; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Redon S; Department of Medical Genetics, Brest University Hospital, Brest, France.; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Baker J; Department of Genomic Medicine, Children's Minnesota, Minneapolis, MN, USA., Wu Y; Shanxi Children's Hospital, Taiyuan, China., Zampino G; Center for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Universita Cattolica del Sacro Cuore, Rome, Italy., Syrbe S; Division of Pediatric Epileptology, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Brosse I; Division of Pediatric Epileptology, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Dobyns WB; Departments of Pediatrics and Genetics, University of Minnesota, Minneapolis, MN, USA., Cohen LL; Division of Medical Genetics, Weill Cornell Medical College, New York, NY, USA., Blomhoff A; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Mignot C; APHP.Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France., Keren B; APHP.Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France., Courtin T; APHP.Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France., Agrawal PB; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Beggs AH; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Yu TW; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA. timothy.yu@childrens.harvard.edu.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA. timothy.yu@childrens.harvard.edu.; Program in Neuroscience, Harvard University, Boston, MA, USA. timothy.yu@childrens.harvard.edu.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Jun; Vol. 23 (6), pp. 1028-1040. Date of Electronic Publication: 2021 Mar 03.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Attention Deficit Disorder with Hyperactivity*/genetics , Autism Spectrum Disorder*/genetics , Autistic Disorder*/genetics , Intellectual Disability*/genetics, Adult ; Humans ; Regulatory Factor X Transcription Factors ; Transcription Factors/genetics

المؤلفون: Baldridge D; Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA., Spillmann RC; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina, USA., Wegner DJ; Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA., Wambach JA; Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA., White FV; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri, USA., Sisco K; Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA., Toler TL; Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA., Dickson PI; Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA., Cole FS; Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA., Shashi V; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina, USA., Grange DK; Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2020 May; Vol. 182 (5), pp. 1053-1065. Date of Electronic Publication: 2020 Feb 21.

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

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Predisposition to Disease*, Abnormalities, Multiple/*genetics , Breast/*abnormalities , Congenital Abnormalities/*genetics , DNA-Binding Proteins/*genetics , Face/*abnormalities , Hematologic Diseases/*genetics , Neoplasm Proteins/*genetics , Vestibular Diseases/*genetics, Abnormalities, Multiple/diagnostic imaging ; Abnormalities, Multiple/pathology ; Adolescent ; Adult ; Breast/diagnostic imaging ; Breast/physiopathology ; Breast Diseases ; Child ; Congenital Abnormalities/diagnostic imaging ; Congenital Abnormalities/physiopathology ; Face/diagnostic imaging ; Face/pathology ; Female ; Hematologic Diseases/diagnostic imaging ; Hematologic Diseases/pathology ; Humans ; Loss of Function Mutation/genetics ; Male ; Mutation/genetics ; Phenotype ; Vestibular Diseases/diagnostic imaging ; Vestibular Diseases/pathology ; Exome Sequencing ; Young Adult

SCR Disease Name: Amastia; Kabuki syndrome

المؤلفون: Sanchez E; Service de Génétique Clinique, centre de référence anomalies du développement et syndromes malformatifs, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, Faculté de Médecine, Montpellier, France.; IRMB, Univ Montpellier, INSERM, CHU Montpellier, Montpellier, France., Laplace-Builhé B; IRMB, Univ Montpellier, INSERM, CHU Montpellier, Montpellier, France., Mau-Them FT; Service de Génétique Clinique, centre de référence anomalies du développement et syndromes malformatifs, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, Faculté de Médecine, Montpellier, France.; IRMB, Univ Montpellier, INSERM, CHU Montpellier, Montpellier, France.; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, Pôle de Biologie, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Inserm-Université de Bourgogne UMR1231 GAD, FHU-TRANSLAD, Dijon, France., Richard E; IRCM, INSERM, U1194 Univ Montpellier, Montpellier, France., Goldenberg A; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F 76000, Normandy Center for Genomic and Personalized Medicine, Reference Center for Developmental Disorders, Rouen, France., Toler TL; Department of Pediatrics, Division of Genetics & Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA., Guignard T; Unité de Génétique Chromosomique, Plateforme ChromoStem, Hôpital Arnaud de Villeneuve, CHU Montpellier, Montpellier, France., Gatinois V; Unité de Génétique Chromosomique, Plateforme ChromoStem, Hôpital Arnaud de Villeneuve, CHU Montpellier, Montpellier, France., Vincent M; Service de génétique médicale, CHU de Nantes, Nantes, France., Blanchet C; Service ORL, Montpellier, France., Boland A; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France., Bihoreau MT; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France., Deleuze JF; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France., Olaso R; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France., Nephi W; Department of Pediatrics, Division of Genetics & Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA., Lüdecke HJ; Institute of Human Genetics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany., Verheij JBGM; Department of Medical Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands., Moreau-Lenoir F; ORL CH d'Evreux, Évreux, France., Denoyelle F; Service d'ORL pédiatrique, Hôpital Universitaire Necker-Enfants Malades, APHP et François Jacob, CEA, Université Paris-Saclay, Evry, France., Rivière JB; Laboratoire de Génétique Moléculaire, Plateau technique de Biologie - CHU Dijon, Dijon, France., Laplanche JL; UF de Génétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, Paris, France., Willing M; Department of Pediatrics, Division of Genetics & Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA., Captier G; Chirurgie plastique infantile Montpellier, Montpellier, France., Apparailly F; IRMB, Univ Montpellier, INSERM, CHU Montpellier, Montpellier, France. florence.apparailly@inserm.fr., Wieczorek D; Institute of Human Genetics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany., Collet C; UF de Génétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, Paris, France., Djouad F; IRMB, Univ Montpellier, INSERM, CHU Montpellier, Montpellier, France., Geneviève D; Service de Génétique Clinique, centre de référence anomalies du développement et syndromes malformatifs, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, Faculté de Médecine, Montpellier, France.; IRMB, Univ Montpellier, INSERM, CHU Montpellier, Montpellier, France.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Mar; Vol. 22 (3), pp. 547-556. Date of Electronic Publication: 2019 Oct 24.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Craniofacial Abnormalities/*genetics , DNA-Directed RNA Polymerases/*genetics , Mandibulofacial Dysostosis/*genetics , Nuclear Proteins/*genetics , Phosphoproteins/*genetics, Animals ; Apoptosis/genetics ; Cell Differentiation/genetics ; Cell Movement/genetics ; Craniofacial Abnormalities/pathology ; Genetic Predisposition to Disease ; Humans ; Mandibulofacial Dysostosis/pathology ; Mutation ; Neural Crest/abnormalities ; Neural Crest/pathology ; Tumor Suppressor Protein p53/genetics ; Exome Sequencing ; Zebrafish/genetics

المؤلفون: Amor DJ; Murdoch Children's Research Institute, Flemington Road, Parkville, Victoria 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia., Stephenson SEM; Murdoch Children's Research Institute, Flemington Road, Parkville, Victoria 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia., Mustapha M; Department of Otolaryngology-Head and Neck Surgery, Stanford University, Stanford, CA 94305, USA., Mensah MA; Institut für Medizinische Genetik, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin 13353, Germany., Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands., Lee WS; Murdoch Children's Research Institute, Flemington Road, Parkville, Victoria 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia., Tankard RM; The Walter and Eliza Hall Institute of Medical Research, Royal Parade, Parkville, Victoria 3052, Australia; Department of Medical Biology, University of Melbourne, Parkville, Victoria 3010, Australia., Phelan DG; Murdoch Children's Research Institute, Flemington Road, Parkville, Victoria 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia., Shinawi M; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA., de Brouwer APM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500HB Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands., Dowling C; Molecular Neurobiology Laboratory, Salk Institute for Biological Studies, 10010 North Torrey Pines Road, La Jolla, CA 92037, USA., Toler TL; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA., Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Agolini E; Laboratory of Medical Genetics, Department of Laboratories, IRCCS Bambino Gesù Children's Hospital, Rome 00165, Italy., Rinelli M; Laboratory of Medical Genetics, Department of Laboratories, IRCCS Bambino Gesù Children's Hospital, Rome 00165, Italy., Capolino R; Medical Genetics, Department of Pediatrics, IRCCS Bambino Gesù Children's Hospital, Rome 00165, Italy., Martinelli D; Division of Metabolism, Department of Pediatric Subspecialties, IRCCS Bambino Gesù Children's Hospital Rome 00165, Italy., Zampino G; Center for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli, Catholic University, Rome 00168, Italy., Dumić M; Department of Pediatrics Rebro, University of Zagreb Medical School, Kispaticeva 12, 10 000 Zagreb, Croatia., Reardon W; Department of Clinical Genetics, Our Lady's Children Hospital Crumlin, Dublin, D12, V004, Ireland., Shaw-Smith C; Department of Clinical Genetics, Royal Devon and Exeter National Health Service Foundation Trust, Exeter EX1 2ED, UK., Leventer RJ; Murdoch Children's Research Institute, Flemington Road, Parkville, Victoria 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia; Department of Neurology, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia., Delatycki MB; Murdoch Children's Research Institute, Flemington Road, Parkville, Victoria 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia., Kleefstra T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500HB Nijmegen, The Netherlands., Mundlos S; Institut für Medizinische Genetik, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin 13353, Germany., Mortier G; Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, B-2650 Antwerp (Edegem), Belgium., Bahlo M; The Walter and Eliza Hall Institute of Medical Research, Royal Parade, Parkville, Victoria 3052, Australia; Department of Medical Biology, University of Melbourne, Parkville, Victoria 3010, Australia., Allen NJ; Molecular Neurobiology Laboratory, Salk Institute for Biological Studies, 10010 North Torrey Pines Road, La Jolla, CA 92037, USA., Lockhart PJ; Murdoch Children's Research Institute, Flemington Road, Parkville, Victoria 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia. Electronic address: paul.lockhart@mcri.edu.au.

المصدر: American journal of human genetics [Am J Hum Genet] 2019 May 02; Vol. 104 (5), pp. 914-924. Date of Electronic Publication: 2019 Apr 11.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Variation*, Deafness/*congenital , Genetic Diseases, X-Linked/*genetics , Genetic Diseases, X-Linked/*pathology , Glypicans/*genetics , Lower Extremity Deformities, Congenital/*genetics , Lower Extremity Deformities, Congenital/*pathology, Adult ; Child ; Child, Preschool ; Deafness/genetics ; Deafness/pathology ; Female ; Humans ; Infant ; Male ; Pedigree ; Phenotype ; Young Adult

SCR Disease Name: Nasodigitoacoustic syndrome