المؤلفون: Hu Y; Endocrine Laboratory, Department of Laboratory Medicine, University of Amsterdam, Amsterdam, The Netherlands.; Amsterdam Gastroenterology, Endocrinology & Metabolism Research Institute, Amsterdam, The Netherlands., Codner GF; The Mary Lyon Centre at MRC Harwell, Harwell Campus, Oxfordshire, UK., Stewart M; The Mary Lyon Centre at MRC Harwell, Harwell Campus, Oxfordshire, UK., La Fleur SE; Endocrine Laboratory, Department of Laboratory Medicine, University of Amsterdam, Amsterdam, The Netherlands.; Amsterdam Gastroenterology, Endocrinology & Metabolism Research Institute, Amsterdam, The Netherlands.; Amsterdam Neuroscience, Cellular and Molecular Mechanisms, Amsterdam, The Netherlands., van Trotsenburg PAS; Amsterdam Gastroenterology, Endocrinology & Metabolism Research Institute, Amsterdam, The Netherlands.; Department of Pediatric Endocrinology, Emma Children's Hospital, Amsterdam, The Netherlands., Fliers E; Amsterdam Gastroenterology, Endocrinology & Metabolism Research Institute, Amsterdam, The Netherlands.; Department of Endocrinology, University of Amsterdam, Amsterdam, The Netherlands., Hennekam RC; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Boelen A; Endocrine Laboratory, Department of Laboratory Medicine, University of Amsterdam, Amsterdam, The Netherlands.; Amsterdam Gastroenterology, Endocrinology & Metabolism Research Institute, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.

المصدر: Journal of molecular endocrinology [J Mol Endocrinol] 2024 Mar 22; Vol. 73 (1). Date of Electronic Publication: 2024 Mar 22 (Print Publication: 2024).

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

بيانات الدورية: Publisher: BioScientifica Country of Publication: England NLM ID: 8902617 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 1479-6813 (Electronic) Linking ISSN: 09525041 NLM ISO Abbreviation: J Mol Endocrinol Subsets: MEDLINE

مواضيع طبية MeSH: Longevity*/genetics , Mutation*/genetics , Transducin*/genetics , Transducin*/metabolism, Animals ; Female ; Humans ; Male ; Mice ; Hemizygote ; Phenotype

المؤلفون: Pongpaksupasin P; Department of Ophthalmology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand., Wongkummool W; Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand., Tong-Ngam P; Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom, Thailand., Jearawiriyapaisarn N; Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom, Thailand., Paiboonsukwong K; Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom, Thailand., Sangkitporn S; Stem Cell and Regenerative Medicine Center, Department of Medical Sciences, Ministry of Public Health, National Institute of Health, Nonthaburi, Thailand., Trinavarat A; Department of Ophthalmology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand., Atchaneeyasakul LO; Department of Ophthalmology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand., Tubsuwan A; Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom, Thailand.

المصدر: Stem cell research [Stem Cell Res] 2022 Dec; Vol. 65, pp. 102964. Date of Electronic Publication: 2022 Nov 11.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE

مواضيع طبية MeSH: Adaptor Proteins, Signal Transducing*/genetics , Induced Pluripotent Stem Cells* , Choroideremia*/genetics , Choroideremia*/pathology , Hemizygote*, Humans ; Male ; Mutation/genetics ; Cell Line

المؤلفون: Tumminello M; Neonatal Intensive Care Unit, Villa Sofia-Cervello Hospital, Palermo, Italy., Gangemi A; Neonatal Intensive Care Unit, Villa Sofia-Cervello Hospital, Palermo, Italy., Matina F; Neonatal Intensive Care Unit, Villa Sofia-Cervello Hospital, Palermo, Italy. fedematina2@hotmail.it., Guardino M; Department of Sciences for Health Promotion and Mother and Child Care 'G. D'Alessandro', University of Palermo, Palermo, Italy., Giuffrè BL; Neonatal Intensive Care Unit, Villa Sofia-Cervello Hospital, Palermo, Italy., Corsello G; Department of Sciences for Health Promotion and Mother and Child Care 'G. D'Alessandro', University of Palermo, Palermo, Italy.

المصدر: Italian journal of pediatrics [Ital J Pediatr] 2021 Jun 02; Vol. 47 (1), pp. 128. Date of Electronic Publication: 2021 Jun 02.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101510759 Publication Model: Electronic Cited Medium: Internet ISSN: 1824-7288 (Electronic) Linking ISSN: 17208424 NLM ISO Abbreviation: Ital J Pediatr Subsets: MEDLINE

مواضيع طبية MeSH: Hemizygote* , Mutation, Missense*, Ectodermal Dysplasia 1, Anhidrotic/*genetics , Ectodysplasins/*genetics, Chromosomes, Human, X ; Humans ; Infant, Newborn ; Male

المؤلفون: Brodehl A; Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany., Meshkov A; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia., Myasnikov R; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia., Kiseleva A; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia., Kulikova O; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia., Klauke B; Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany., Sotnikova E; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia., Stanasiuk C; Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany., Divashuk M; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia., Pohl GM; Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany., Kudryavtseva M; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia., Klingel K; Cardiopathology, Institute for Pathology and Neuropathology, University Hospital Tuebingen, Liebemeister-strasse 8, 72076 Tuebingen, Germany., Gerull B; Comprehensive Heart Failure Center (CHFC) and Department of Internal Medicine I, University Hospital Würzburg, 97080 Würzburg, Germany., Zharikova A; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia., Gummert J; Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany.; Clinic for Thoracic and Cardiovascular Surgery, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany., Koretskiy S; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia., Schubert S; Center for Congenital Heart Defects, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany., Mershina E; Medical Research and Educational Center, Lomonosov Moscow State University, Lomonosovsky Prospect 27, Building 10, 119991 Moscow, Russia., Gärtner A; Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany., Pilus P; Medical Research and Educational Center, Lomonosov Moscow State University, Lomonosovsky Prospect 27, Building 10, 119991 Moscow, Russia., Laser KT; Center for Congenital Heart Defects, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany., Sinitsyn V; Medical Research and Educational Center, Lomonosov Moscow State University, Lomonosovsky Prospect 27, Building 10, 119991 Moscow, Russia., Boytsov S; National Medical Research Center for Cardiology, 3-ya Cherepkovskaya Street 15A, 121552 Moscow, Russia., Drapkina O; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia., Milting H; Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2021 Apr 06; Vol. 22 (7). Date of Electronic Publication: 2021 Apr 06.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Hemizygote* , Homozygote* , Loss of Function Mutation* , Polymorphism, Single Nucleotide*, Arrhythmogenic Right Ventricular Dysplasia/*genetics , Desmoglein 2/*genetics, Arrhythmogenic Right Ventricular Dysplasia/diagnostic imaging ; Female ; Humans ; Male

المؤلفون: Wolańska E; Department of Pediatrics, Division of Propaedeutic of Pediatrics and Rare Disorders, Wroclaw Medical University, 51-618 Wroclaw, Poland., Pollak A; Department of Medical Genetics, Warsaw Medical University, 02-106 Warsaw, Poland., Rydzanicz M; Department of Medical Genetics, Warsaw Medical University, 02-106 Warsaw, Poland., Pesz K; Department of Genetics, Wroclaw Medical University, 50-368 Wroclaw, Poland., Kłaniewska M; Department of Pediatrics, Division of Propaedeutic of Pediatrics and Rare Disorders, Wroclaw Medical University, 51-618 Wroclaw, Poland., Rozensztrauch A; Department of Pediatrics, Division of Neonatology, Wroclaw Medical University, 51-618 Wroclaw, Poland., Skiba P; Department of Genetics, Wroclaw Medical University, 50-368 Wroclaw, Poland., Stawiński P; Department of Medical Genetics, Warsaw Medical University, 02-106 Warsaw, Poland., Płoski R; Department of Medical Genetics, Warsaw Medical University, 02-106 Warsaw, Poland., Śmigiel R; Department of Pediatrics, Division of Propaedeutic of Pediatrics and Rare Disorders, Wroclaw Medical University, 51-618 Wroclaw, Poland.

المصدر: Genes [Genes (Basel)] 2021 Feb 27; Vol. 12 (3). Date of Electronic Publication: 2021 Feb 27.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Deletion* , Hemizygote*, Abnormalities, Multiple/*genetics , Chromosomes, Human, X/*genetics , Intellectual Disability/*genetics , Nerve Tissue Proteins/*genetics , Nuclear Proteins/*genetics , Ubiquitin-Conjugating Enzymes/*genetics, Abnormalities, Multiple/pathology ; Child ; Humans ; Intellectual Disability/pathology ; Male ; Syndrome

المؤلفون: Sewani M; Texas Children's Hospital, Houston, Texas., Nugent K; Children's Hospital of San Antonio, San Antonio, Texas.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Blackburn PR; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Tarnowski JM; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota., Hernandez-Garcia A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Amiel J; 1INSERM UMR 1163, Institut Imagine, Paris, France.; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.; Service de Génétique, Hôpital Necker-Enfants Malades, Paris, France., Whalen S; Unité Fonctionnelle de génétique clinique, Hôpital Armand Trousseau, Assistance publique-Hôpitaux de Paris, Centre de Référence Maladies Rares des anomalies du développement et syndromes malformatifs, Paris, France., Keren B; Département de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France., Courtin T; Département de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Patterson MC; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.; Department of Neurology, Mayo Clinic, Rochester, Minnesota., Pichurin P; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota., McLean SD; Children's Hospital of San Antonio, San Antonio, Texas.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Scott DA; Texas Children's Hospital, Houston, Texas.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Apr; Vol. 182 (4), pp. 652-658. Date of Electronic Publication: 2019 Dec 28.

نوع المنشور: Case Reports; Journal Article

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: Hemizygote* , Mutation*, DNA-Binding Proteins/*genetics , Developmental Disabilities/*pathology , Heart Defects, Congenital/*pathology , Intellectual Disability/*pathology , RNA-Binding Proteins/*genetics, Adult ; Child, Preschool ; Developmental Disabilities/genetics ; Female ; Gestational Age ; Heart Defects, Congenital/genetics ; Humans ; Intellectual Disability/genetics ; Male ; Phenotype ; Syndrome

المؤلفون: Torralba-Raga L; Department of Medicine, Centre for Hematology and Regenerative Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden., Tesi B; Clinical Genetics, Karolinska University Hospital Solna, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Chiang SCC; Department of Medicine, Centre for Hematology and Regenerative Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden., Schlums H; Department of Medicine, Centre for Hematology and Regenerative Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden., Nordenskjöld M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Horne A; Department of Women's and Children's Health, Karolinska University Hospital, Stockholm, Sweden.; Paediatric Rheumatology Department, Karolinska University Hospital, Stockholm, Sweden., Henter JI; Clinical Genetics, Karolinska University Hospital Solna, Stockholm, Sweden., Meeths M; Clinical Genetics, Karolinska University Hospital Solna, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Abdelhaleem M; Department of Paediatric Laboratory Medicine, Hospital for Sick Children, Toronto, Canada., Weitzman S; Division of Pediatric Hematology/Oncology, The Hospital for Sick Children and the University of Toronto, Toronto, Canada., Bryceson Y; Department of Medicine, Centre for Hematology and Regenerative Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden.; Broegelmann Research Laboratory, Institute of Clinical Sciences, University of Bergen, Bergen, Norway.

المصدر: Pediatric blood & cancer [Pediatr Blood Cancer] 2020 Apr; Vol. 67 (4), pp. e28184. Date of Electronic Publication: 2020 Jan 29.

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

بيانات الدورية: Publisher: John Wiley Country of Publication: United States NLM ID: 101186624 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1545-5017 (Electronic) Linking ISSN: 15455009 NLM ISO Abbreviation: Pediatr Blood Cancer Subsets: MEDLINE

مواضيع طبية MeSH: Epstein-Barr Virus Infections*/genetics , Epstein-Barr Virus Infections*/metabolism , Hemizygote* , Herpesvirus 4, Human*/genetics , Herpesvirus 4, Human*/metabolism , Lymphohistiocytosis, Hemophagocytic*/genetics , Lymphohistiocytosis, Hemophagocytic*/metabolism , Lymphohistiocytosis, Hemophagocytic*/virology , Lymphoproliferative Disorders*/genetics , Lymphoproliferative Disorders*/metabolism , Lymphoproliferative Disorders*/virology , Mutation, Missense* , Neoplasm Proteins*/genetics , Neoplasm Proteins*/metabolism , Signaling Lymphocytic Activation Molecule Associated Protein*/biosynthesis , Signaling Lymphocytic Activation Molecule Associated Protein*/genetics, Adult ; Amino Acid Substitution ; Fatal Outcome ; Gene Expression Regulation, Leukemic ; Humans ; Male ; Signaling Lymphocytic Activation Molecule Family/genetics

المؤلفون: Kimchi A; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.; Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Meiner V; Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Silverstein S; Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Macarov M; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.; Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Mor-Shaked H; Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Blumenfeld A; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Audo I; Institut de la vision, Sorbonne Université, INSERM, Paris, France.; CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DHOS, Paris, France.; Institute of Ophthalmology, University College of London, London, UK., Zeitz C; Institut de la vision, Sorbonne Université, INSERM, Paris, France., Mechoulam H; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Banin E; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Sharon D; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Yahalom C; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

المصدر: Ophthalmic genetics [Ophthalmic Genet] 2019 Oct; Vol. 40 (5), pp. 443-448. Date of Electronic Publication: 2019 Oct 25.

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

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE

مواضيع طبية MeSH: Hemizygote* , Heterozygote* , Mutation, Missense*, Arthritis/*genetics , Calcium Channels, L-Type/*genetics , Deafness/*genetics , Eye Diseases, Hereditary/*etiology , Genetic Diseases, X-Linked/*etiology , Jews/*genetics , Myopia/*etiology , Night Blindness/*etiology , Polychondritis, Relapsing/*genetics , Retinal Diseases/*etiology, Adult ; Aged ; Eye Diseases, Hereditary/pathology ; Female ; Follow-Up Studies ; Founder Effect ; Genetic Diseases, X-Linked/pathology ; Genetic Testing ; Humans ; Male ; Middle Aged ; Myopia/pathology ; Night Blindness/pathology ; Pedigree ; Phenotype ; Prognosis ; Retinal Diseases/pathology ; Exome Sequencing

SCR Disease Name: Meyenburg-Altherr-Uehlinger syndrome; Night blindness, congenital stationary

المؤلفون: Hannah WB; Center for Human Genetics, University Hospitals Cleveland Medical Center, Cleveland, Ohio.; Department of Internal Medicine, University Hospitals Cleveland Medical Center, Cleveland, Ohio.; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, Ohio., DeBrosse S; Center for Human Genetics, University Hospitals Cleveland Medical Center, Cleveland, Ohio.; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, Ohio., Kinghorn B; Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington., Strausbaugh S; Department of Internal Medicine, University Hospitals Cleveland Medical Center, Cleveland, Ohio.; Department of Pediatrics, University Hospitals Cleveland Medical Center, Cleveland, Ohio., Aitken ML; Department of Medicine, University of Washington, Seattle, Washington., Rosenfeld M; Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington., Wolf WE; Department of Pharmacoengineering and Molecular Pharmaceutics, Eshelman School of Pharmacy, University of North Carolina, Chapel Hill, North Carolina., Knowles MR; Department of Medicine, Marsico Lung Institute, University of North Carolina, Chapel Hill, North Carolina., Zariwala MA; Department of Pathology and Laboratory Medicine, Marsico Lung Institute, University of North Carolina, Chapel Hill, North Carolina.

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Sep; Vol. 7 (9), pp. e911. Date of Electronic Publication: 2019 Aug 01.

نوع المنشور: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Review

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

مواضيع طبية MeSH: Hemizygote* , Loss of Function Mutation*, Ciliary Motility Disorders/*genetics , Proteins/*genetics, Abnormalities, Multiple/genetics ; Adolescent ; Adult ; Cerebellar Diseases/genetics ; Genetic Diseases, X-Linked/genetics ; Humans ; Male ; Muscle Hypotonia/genetics ; Retinitis Pigmentosa/genetics

SCR Disease Name: Joubert Syndrome 10; Simpson-Golabi-Behmel Syndrome, Type 2

المؤلفون: Hu Z; Department of Neurology, Peking University First Hospital, Beijing, China., Zhu Y; Department of Radiology, Peking University First Hospital, Beijing, China., Liu X; Department of Neurology, Peking University First Hospital, Beijing, China., Zhang W; Department of Neurology, Peking University First Hospital, Beijing, China., Liu J; Department of Neurology, Peking University First Hospital, Beijing, China., Wu S; Department of Neurology, The General Hospital of the Chinese Armed Police Force, Beijing, China., Xiao J; Department of Radiology, Peking University First Hospital, Beijing, China., Yuan Y; Department of Neurology, Peking University First Hospital, Beijing, China. yuanyun2002@sohu.com., Wang Z; Department of Neurology, Peking University First Hospital, Beijing, China. drwangzx@163.com.

المصدر: Journal of human genetics [J Hum Genet] 2019 Sep; Vol. 64 (9), pp. 919-926. Date of Electronic Publication: 2019 Jul 04.

نوع المنشور: Clinical Trial; Journal Article

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Hemizygote* , Magnetic Resonance Imaging* , Mutation*, Intracellular Signaling Peptides and Proteins/*genetics , LIM Domain Proteins/*genetics , Muscle Proteins/*genetics , Muscle, Skeletal/*diagnostic imaging, Adult ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Middle Aged ; Myopathies, Structural, Congenital/diagnostic imaging ; Myopathies, Structural, Congenital/genetics ; Protein Domains