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Wyszukujesz frazę ""Whole Exome Sequencing"" wg kryterium: Temat


Tytuł :
[A consensus recommendation for the interpretation and reporting of exome sequencing in prenatal genetic diagnosis].
Autorzy :
Genetic Disease Society Guangdong Precision Medicine Application Association Prenatal Diagnosis Group Maternal And Child Health Care Society Guangdong Medical Association Expert Committee Of Prenatal Diagnosis; Guangdong Women and Children Hospital, Guangzhou, Guangdong 511442, China. .
Zhang Y
Liu W
Zhang J
Lin S
Huang H
Zhang WV
Ren Z
Wang Y
Yang Y
Yin A
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Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2020 Nov 10; Vol. 37 (11), pp. 1205-1212.
Typ publikacji :
Journal Article
MeSH Terms :
Exome*/genetics
Prenatal Diagnosis*
Whole Exome Sequencing*
Consensus ; Female ; Genetic Counseling ; Genetic Testing ; Humans ; Pregnancy
Czasopismo naukowe
Tytuł :
[Genetic analysis of a case with ectodermal dysplasia using whole exome sequencing].
Autorzy :
Xia J; Prenatal and Genetic Diagnosis Center, the Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450002, China. .
Shi P
Chen C
Tang Q
Kong X
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Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2020 Nov 10; Vol. 37 (11), pp. 1265-1268.
Typ publikacji :
Journal Article
MeSH Terms :
DNA Copy Number Variations*
Ectodermal Dysplasia*/genetics
Whole Exome Sequencing*
Ectodysplasins/genetics ; Exons ; Genetic Testing ; High-Throughput Nucleotide Sequencing ; Humans ; Mosaicism ; Sequence Deletion
Czasopismo naukowe
Tytuł :
Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients.
Autorzy :
Fernando TM; Discovery Oncology, Genentech, South San Francisco, CA, 94080, USA.
Piskol R; Bioinformatics and Computational Biology, Genentech, South San Francisco, CA, 94080, USA.
Bainer R; Bioinformatics and Computational Biology, Genentech, South San Francisco, CA, 94080, USA.
Sokol ES; Cancer Genomics Research, Foundation Medicine, Cambridge, MA, 02141, USA.
Trabucco SE; Cancer Genomics Research, Foundation Medicine, Cambridge, MA, 02141, USA.
Zhang Q; Product Development Personalized Healthcare Data Science, Genentech, South San Francisco, CA, 94080, USA.
Trinh H; Product Development Personalized Healthcare Data Science, Genentech, South San Francisco, CA, 94080, USA.
Maund S; Oncology Biomarker Development, Genentech, South San Francisco, CA, 94080, USA.
Kschonsak M; Structural Biology, Genentech, South San Francisco, CA, 94080, USA.
Chaudhuri S; Molecular Biology, Genentech, South San Francisco, CA, 94080, USA.
Modrusan Z; Molecular Biology, Genentech, South San Francisco, CA, 94080, USA.
Januario T; Discovery Oncology, Genentech, South San Francisco, CA, 94080, USA.
Yauch RL; Discovery Oncology, Genentech, South San Francisco, CA, 94080, USA. .
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Źródło :
Nature communications [Nat Commun] 2020 Nov 03; Vol. 11 (1), pp. 5551. Date of Electronic Publication: 2020 Nov 03.
Typ publikacji :
Journal Article
MeSH Terms :
Whole Exome Sequencing*
DNA Helicases/*genetics
Mutation/*genetics
Neoplasms/*genetics
Nuclear Proteins/*genetics
Transcription Factors/*genetics
Carcinogenesis/genetics ; Cell Line, Tumor ; Cell Proliferation ; Chromatin/metabolism ; Cohort Studies ; DNA Helicases/chemistry ; Gene Expression Regulation, Neoplastic ; Homozygote ; Humans ; Mutation, Missense/genetics ; Nuclear Proteins/chemistry ; Nucleosomes/metabolism ; Protein Domains ; Transcription Factors/chemistry
Czasopismo naukowe
Tytuł :
Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis.
Autorzy :
Sparks TN; From the University of California, San Francisco (T.N.S., B.R.L., S.L.D., S.P., A.F., A.M.S., P.D., U.H., J.V.Z., S.J.S., T.C.M., M.E.N.), the University of California, San Diego (R.R.A., L.C.L.), the University of California, Los Angeles (I.D., K.H., A.M.), the University of California, Irvine (J.D., J.J., C.U.), and the University of California, Davis (N.M.B., N.T.F.).
Lianoglou BR; From the University of California, San Francisco (T.N.S., B.R.L., S.L.D., S.P., A.F., A.M.S., P.D., U.H., J.V.Z., S.J.S., T.C.M., M.E.N.), the University of California, San Diego (R.R.A., L.C.L.), the University of California, Los Angeles (I.D., K.H., A.M.), the University of California, Irvine (J.D., J.J., C.U.), and the University of California, Davis (N.M.B., N.T.F.).
Adami RR; From the University of California, San Francisco (T.N.S., B.R.L., S.L.D., S.P., A.F., A.M.S., P.D., U.H., J.V.Z., S.J.S., T.C.M., M.E.N.), the University of California, San Diego (R.R.A., L.C.L.), the University of California, Los Angeles (I.D., K.H., A.M.), the University of California, Irvine (J.D., J.J., C.U.), and the University of California, Davis (N.M.B., N.T.F.).
Pluym ID; From the University of California, San Francisco (T.N.S., B.R.L., S.L.D., S.P., A.F., A.M.S., P.D., U.H., J.V.Z., S.J.S., T.C.M., M.E.N.), the University of California, San Diego (R.R.A., L.C.L.), the University of California, Los Angeles (I.D., K.H., A.M.), the University of California, Irvine (J.D., J.J., C.U.), and the University of California, Davis (N.M.B., N.T.F.).
Holliman K; From the University of California, San Francisco (T.N.S., B.R.L., S.L.D., S.P., A.F., A.M.S., P.D., U.H., J.V.Z., S.J.S., T.C.M., M.E.N.), the University of California, San Diego (R.R.A., L.C.L.), the University of California, Los Angeles (I.D., K.H., A.M.), the University of California, Irvine (J.D., J.J., C.U.), and the University of California, Davis (N.M.B., N.T.F.).
Duffy J; From the University of California, San Francisco (T.N.S., B.R.L., S.L.D., S.P., A.F., A.M.S., P.D., U.H., J.V.Z., S.J.S., T.C.M., M.E.N.), the University of California, San Diego (R.R.A., L.C.L.), the University of California, Los Angeles (I.D., K.H., A.M.), the University of California, Irvine (J.D., J.J., C.U.), and the University of California, Davis (N.M.B., N.T.F.).
Downum SL; From the University of California, San Francisco (T.N.S., B.R.L., S.L.D., S.P., A.F., A.M.S., P.D., U.H., J.V.Z., S.J.S., T.C.M., M.E.N.), the University of California, San Diego (R.R.A., L.C.L.), the University of California, Los Angeles (I.D., K.H., A.M.), the University of California, Irvine (J.D., J.J., C.U.), and the University of California, Davis (N.M.B., N.T.F.).
Patel S; From the University of California, San Francisco (T.N.S., B.R.L., S.L.D., S.P., A.F., A.M.S., P.D., U.H., J.V.Z., S.J.S., T.C.M., M.E.N.), the University of California, San Diego (R.R.A., L.C.L.), the University of California, Los Angeles (I.D., K.H., A.M.), the University of California, Irvine (J.D., J.J., C.U.), and the University of California, Davis (N.M.B., N.T.F.).
Faubel A; From the University of California, San Francisco (T.N.S., B.R.L., S.L.D., S.P., A.F., A.M.S., P.D., U.H., J.V.Z., S.J.S., T.C.M., M.E.N.), the University of California, San Diego (R.R.A., L.C.L.), the University of California, Los Angeles (I.D., K.H., A.M.), the University of California, Irvine (J.D., J.J., C.U.), and the University of California, Davis (N.M.B., N.T.F.).
Boe NM; From the University of California, San Francisco (T.N.S., B.R.L., S.L.D., S.P., A.F., A.M.S., P.D., U.H., J.V.Z., S.J.S., T.C.M., M.E.N.), the University of California, San Diego (R.R.A., L.C.L.), the University of California, Los Angeles (I.D., K.H., A.M.), the University of California, Irvine (J.D., J.J., C.U.), and the University of California, Davis (N.M.B., N.T.F.).
Field NT; From the University of California, San Francisco (T.N.S., B.R.L., S.L.D., S.P., A.F., A.M.S., P.D., U.H., J.V.Z., S.J.S., T.C.M., M.E.N.), the University of California, San Diego (R.R.A., L.C.L.), the University of California, Los Angeles (I.D., K.H., A.M.), the University of California, Irvine (J.D., J.J., C.U.), and the University of California, Davis (N.M.B., N.T.F.).
Murphy A; From the University of California, San Francisco (T.N.S., B.R.L., S.L.D., S.P., A.F., A.M.S., P.D., U.H., J.V.Z., S.J.S., T.C.M., M.E.N.), the University of California, San Diego (R.R.A., L.C.L.), the University of California, Los Angeles (I.D., K.H., A.M.), the University of California, Irvine (J.D., J.J., C.U.), and the University of California, Davis (N.M.B., N.T.F.).
Laurent LC; From the University of California, San Francisco (T.N.S., B.R.L., S.L.D., S.P., A.F., A.M.S., P.D., U.H., J.V.Z., S.J.S., T.C.M., M.E.N.), the University of California, San Diego (R.R.A., L.C.L.), the University of California, Los Angeles (I.D., K.H., A.M.), the University of California, Irvine (J.D., J.J., C.U.), and the University of California, Davis (N.M.B., N.T.F.).
Jolley J; From the University of California, San Francisco (T.N.S., B.R.L., S.L.D., S.P., A.F., A.M.S., P.D., U.H., J.V.Z., S.J.S., T.C.M., M.E.N.), the University of California, San Diego (R.R.A., L.C.L.), the University of California, Los Angeles (I.D., K.H., A.M.), the University of California, Irvine (J.D., J.J., C.U.), and the University of California, Davis (N.M.B., N.T.F.).
Uy C; From the University of California, San Francisco (T.N.S., B.R.L., S.L.D., S.P., A.F., A.M.S., P.D., U.H., J.V.Z., S.J.S., T.C.M., M.E.N.), the University of California, San Diego (R.R.A., L.C.L.), the University of California, Los Angeles (I.D., K.H., A.M.), the University of California, Irvine (J.D., J.J., C.U.), and the University of California, Davis (N.M.B., N.T.F.).
Slavotinek AM; From the University of California, San Francisco (T.N.S., B.R.L., S.L.D., S.P., A.F., A.M.S., P.D., U.H., J.V.Z., S.J.S., T.C.M., M.E.N.), the University of California, San Diego (R.R.A., L.C.L.), the University of California, Los Angeles (I.D., K.H., A.M.), the University of California, Irvine (J.D., J.J., C.U.), and the University of California, Davis (N.M.B., N.T.F.).
Devine P; From the University of California, San Francisco (T.N.S., B.R.L., S.L.D., S.P., A.F., A.M.S., P.D., U.H., J.V.Z., S.J.S., T.C.M., M.E.N.), the University of California, San Diego (R.R.A., L.C.L.), the University of California, Los Angeles (I.D., K.H., A.M.), the University of California, Irvine (J.D., J.J., C.U.), and the University of California, Davis (N.M.B., N.T.F.).
Hodoglugil U; From the University of California, San Francisco (T.N.S., B.R.L., S.L.D., S.P., A.F., A.M.S., P.D., U.H., J.V.Z., S.J.S., T.C.M., M.E.N.), the University of California, San Diego (R.R.A., L.C.L.), the University of California, Los Angeles (I.D., K.H., A.M.), the University of California, Irvine (J.D., J.J., C.U.), and the University of California, Davis (N.M.B., N.T.F.).
Van Ziffle J; From the University of California, San Francisco (T.N.S., B.R.L., S.L.D., S.P., A.F., A.M.S., P.D., U.H., J.V.Z., S.J.S., T.C.M., M.E.N.), the University of California, San Diego (R.R.A., L.C.L.), the University of California, Los Angeles (I.D., K.H., A.M.), the University of California, Irvine (J.D., J.J., C.U.), and the University of California, Davis (N.M.B., N.T.F.).
Sanders SJ; From the University of California, San Francisco (T.N.S., B.R.L., S.L.D., S.P., A.F., A.M.S., P.D., U.H., J.V.Z., S.J.S., T.C.M., M.E.N.), the University of California, San Diego (R.R.A., L.C.L.), the University of California, Los Angeles (I.D., K.H., A.M.), the University of California, Irvine (J.D., J.J., C.U.), and the University of California, Davis (N.M.B., N.T.F.).
MacKenzie TC; From the University of California, San Francisco (T.N.S., B.R.L., S.L.D., S.P., A.F., A.M.S., P.D., U.H., J.V.Z., S.J.S., T.C.M., M.E.N.), the University of California, San Diego (R.R.A., L.C.L.), the University of California, Los Angeles (I.D., K.H., A.M.), the University of California, Irvine (J.D., J.J., C.U.), and the University of California, Davis (N.M.B., N.T.F.).
Norton ME; From the University of California, San Francisco (T.N.S., B.R.L., S.L.D., S.P., A.F., A.M.S., P.D., U.H., J.V.Z., S.J.S., T.C.M., M.E.N.), the University of California, San Diego (R.R.A., L.C.L.), the University of California, Los Angeles (I.D., K.H., A.M.), the University of California, Irvine (J.D., J.J., C.U.), and the University of California, Davis (N.M.B., N.T.F.).
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Corporate Authors :
University of California Fetal–Maternal Consortium
University of California, San Francisco Center for Maternal–Fetal Precision Medicine
Źródło :
The New England journal of medicine [N Engl J Med] 2020 Oct 29; Vol. 383 (18), pp. 1746-1756. Date of Electronic Publication: 2020 Oct 07.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Variation*
Prenatal Diagnosis*
Whole Exome Sequencing*
Hydrops Fetalis/*diagnosis
Hydrops Fetalis/*genetics
Female ; Humans ; Pregnancy ; Prognosis
Czasopismo naukowe
Tytuł :
[Diagnosis of glutaric acidemia type ⅡC by fetal whole exome sequencing].
Autorzy :
Zhen Y; Department of Ultrasonography, the Second Affiliated Hospital of Zhengzhou University, Henan 450014, China. .
Lu X
Qiu J
Cui J
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Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2020 Oct 10; Vol. 37 (10), pp. 1139-1142.
Typ publikacji :
Journal Article
MeSH Terms :
Fetus*
Prenatal Diagnosis*
Whole Exome Sequencing*
Multiple Acyl Coenzyme A Dehydrogenase Deficiency/*diagnosis
DNA ; Electron-Transferring Flavoproteins/genetics ; Female ; Humans ; Iron-Sulfur Proteins/genetics ; Multiple Acyl Coenzyme A Dehydrogenase Deficiency/genetics ; Oxidoreductases Acting on CH-NH Group Donors/genetics ; Phenotype ; Pregnancy
Czasopismo naukowe
Tytuł :
Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies.
Autorzy :
Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany; Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.
Braunisch MC; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany; Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.
Günthner R; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany; Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.
Wagner M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
Hemmer C; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.
Strom TM; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
Schmaderer C; Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.
Renders L; Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.
Tasic V; University Children's Hospital, Medical Faculty of Skopje, Macedonia.
Gucev Z; University Children's Hospital, Medical Faculty of Skopje, Macedonia.
Nushi-Stavileci V; Pediatric Clinic, University Clinical Center of Kosovo, Prishtina, Kosovo.
Putnik J; Institute for Mother and Child Health Care of Serbia 'Dr Vukan Čupić', Department of Nephrology, University of Belgrade, Faculty of Medicine, Belgrade, Serbia.
Stajić N; Institute for Mother and Child Health Care of Serbia 'Dr Vukan Čupić', Department of Nephrology, University of Belgrade, Faculty of Medicine, Belgrade, Serbia.
Weidenbusch M; Nephrologisches Zentrum, Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Ludwig-Maximilians University, Munich, Germany.
Uetz B; München-Klinik Schwabing, Klinikum rechts der Isar, Technical University of Munich, Children's Hospital, Pediatric Nephrology, Munich, Germany; KfH-Kindernierenzentrum, Munich, Germany.
Montoya C; KfH-Kindernierenzentrum, Munich, Germany.
Strotmann P; München-Klinik Schwabing, Klinikum rechts der Isar, Technical University of Munich, Children's Hospital, Pediatric Nephrology, Munich, Germany.
Ponsel S; Division of Pediatric Nephrology, Dr. v. Hauner Children's Hospital, Ludwig-Maximilians University, Munich, Germany.
Lange-Sperandio B; Division of Pediatric Nephrology, Dr. v. Hauner Children's Hospital, Ludwig-Maximilians University, Munich, Germany.
Hoefele J; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany. Electronic address: .
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Źródło :
American journal of kidney diseases : the official journal of the National Kidney Foundation [Am J Kidney Dis] 2020 Oct; Vol. 76 (4), pp. 460-470. Date of Electronic Publication: 2020 Apr 28.
Typ publikacji :
Journal Article
MeSH Terms :
Phenotype*
Whole Exome Sequencing*
Kidney Diseases/*genetics
Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Cohort Studies ; Cross-Sectional Studies ; Female ; Humans ; Infant ; Male ; Middle Aged ; Young Adult
Czasopismo naukowe
Tytuł :
Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.
Autorzy :
Zhou Y; Seven Section of Department of Gynaecology, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.
Tariq M; Human Molecular Genetics, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad, 38000, Pakistan.
He S; BGI-Shenzhen, Shenzhen, 518083, China.; BGI Genomics, BGI-Shenzhen, Shenzhen, 518083, China.
Abdullah U; Human Molecular Genetics, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad, 38000, Pakistan.
Zhang J; BGI-Shenzhen, Shenzhen, 518083, China. .; BGI Genomics, BGI-Shenzhen, Shenzhen, 518083, China. .
Baig SM; Human Molecular Genetics, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad, 38000, Pakistan. .
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Źródło :
BMC medical genetics [BMC Med Genet] 2020 Jul 18; Vol. 21 (1), pp. 151. Date of Electronic Publication: 2020 Jul 18.
Typ publikacji :
Journal Article
MeSH Terms :
Consanguinity*
Whole Exome Sequencing*
Hearing Loss/*genetics
Mutation/*genetics
Female ; Hearing Loss/diagnosis ; Humans ; Male ; Pakistan ; Pedigree ; Reproducibility of Results
Czasopismo naukowe
Tytuł :
Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report.
Autorzy :
Sun D; Department of Pediatric Neurology, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science & and Technology, Wuhan, 430016, China.
Liu Z; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
Liu Y; Aegicare (Shenzhen) Technology Co., Ltd., Shenzhen, 518110, China.
Wu M; School of Medicine, Jianghan University, Wuhan, 430056, China.
Fang F; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China. .
Deng X; Radiology Department, Union Hospital, Huazhong University of Science and Technology, Wuhan, 430056, China. .
Liu Z; Department of Pediatric Neurology, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science & and Technology, Wuhan, 430016, China.
Song L; Third People's Hospital of Hubei Province, Wuhan, 430030, China.
Murayama K; Center for Medical Genetics Department of Metabolism, Chiba Children's Hospital, Chiba, 2660007, Japan.
Zhang C; MILS International, Yokohama, 2220033, Japan.
Zhu Y; Aegicare (Shenzhen) Technology Co., Ltd., Shenzhen, 518110, China.
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Źródło :
BMC medical genetics [BMC Med Genet] 2020 Jul 16; Vol. 21 (1), pp. 149. Date of Electronic Publication: 2020 Jul 16.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Whole Exome Sequencing*
Asian Continental Ancestry Group/*genetics
Enoyl-CoA Hydratase/*genetics
Leigh Disease/*genetics
Mutation/*genetics
Base Sequence ; Brain/diagnostic imaging ; Brain/pathology ; Child ; Child, Preschool ; Family ; Female ; Humans ; Infant ; Infant, Newborn ; Magnetic Resonance Imaging ; Male ; Pedigree
Czasopismo naukowe
Tytuł :
Whole-exome sequencing identifies a de novo PDE3A variant causing autosomal dominant hypertension with brachydactyly type E syndrome: a case report.
Autorzy :
Li X; Division of Cardiology, Department of Internal Medicine and Genetic Diagnosis Centre, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.; Hubei Key Laboratory of Genetics and Molecular Mechanisms of Cardiological Disorders, Huazhong University of Science and Technology, Wuhan, China.
Li Z; Division of Cardiology, Department of Internal Medicine and Genetic Diagnosis Centre, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.; Hubei Key Laboratory of Genetics and Molecular Mechanisms of Cardiological Disorders, Huazhong University of Science and Technology, Wuhan, China.
Chen P; Division of Cardiology, Department of Internal Medicine and Genetic Diagnosis Centre, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.; Hubei Key Laboratory of Genetics and Molecular Mechanisms of Cardiological Disorders, Huazhong University of Science and Technology, Wuhan, China.
Wang Y; Division of Cardiology, Department of Internal Medicine and Genetic Diagnosis Centre, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.; Hubei Key Laboratory of Genetics and Molecular Mechanisms of Cardiological Disorders, Huazhong University of Science and Technology, Wuhan, China.
Wang DW; Division of Cardiology, Department of Internal Medicine and Genetic Diagnosis Centre, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.; Hubei Key Laboratory of Genetics and Molecular Mechanisms of Cardiological Disorders, Huazhong University of Science and Technology, Wuhan, China.
Wang DW; State Key Laboratory of Reproductive Medicine, The Centre for Clinical Reproductive Medicine and Department of Cardiology, The First Affiliated Hospital of Nanjing Medical University, 300 Guangzhou Road, Nanjing, 210029, P. R. China. .
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Źródło :
BMC medical genetics [BMC Med Genet] 2020 Jul 06; Vol. 21 (1), pp. 144. Date of Electronic Publication: 2020 Jul 06.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genes, Dominant*
Whole Exome Sequencing*
Brachydactyly/*genetics
Cyclic Nucleotide Phosphodiesterases, Type 3/*genetics
Hypertension/*congenital
Mutation/*genetics
Adolescent ; Brachydactyly/diagnostic imaging ; Exons/genetics ; Female ; Humans ; Hypertension/diagnostic imaging ; Hypertension/genetics ; Male ; Pedigree ; Syndrome
SCR Disease Name :
Brachydactyly with hypertension
Czasopismo naukowe
Tytuł :
An exceptional metaplastic lobular breast carcinoma diagnosed through exome sequencing.
Autorzy :
Bergeron A; Department of Tumor Biology and Pathology, Pathology Unit, Centre Georges-Francois Leclerc, Dijon, Bourgogne, France .
Desmoulins I; Department of Clinical Oncology, Centre Georges-Francois Leclerc, Dijon, Bourgogne, France.
Beltjens F; Department of Tumor Biology and Pathology, Pathology Unit, Centre Georges-Francois Leclerc, Dijon, Bourgogne, France.
Causeret S; Department of Surgery, Centre Georges-Francois Leclerc, Dijon, Bourgogne, France.
Charon-Barra C; Department of Tumor Biology and Pathology, Pathology Unit, Centre Georges-Francois Leclerc, Dijon, Bourgogne, France.
Martin E; Department of Radiation Oncology, Centre Georges-Francois Leclerc, Dijon, Bourgogne, France.
Richard C; Department of Tumor Biology and Pathology, Molecular Biology Unit, Centre Georges-Francois Leclerc, Dijon, Bourgogne, France.
Boidot R; Department of Tumor Biology and Pathology, Molecular Biology Unit, Centre Georges-Francois Leclerc, Dijon, Bourgogne, France.
Arnould L; Department of Tumor Biology and Pathology, Pathology Unit, Centre Georges-Francois Leclerc, Dijon, Bourgogne, France.
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Źródło :
Journal of clinical pathology [J Clin Pathol] 2020 Sep; Vol. 73 (9), pp. 597-601. Date of Electronic Publication: 2020 Jan 24.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Whole Exome Sequencing*
Bone Neoplasms/*diagnosis
Breast Neoplasms/*diagnosis
Carcinoma, Ductal, Breast/*diagnosis
Carcinoma, Lobular/*diagnosis
Aged ; Bone Neoplasms/genetics ; Bone Neoplasms/secondary ; Breast/pathology ; Breast Neoplasms/genetics ; Breast Neoplasms/pathology ; Carcinoma, Ductal, Breast/genetics ; Carcinoma, Ductal, Breast/pathology ; Carcinoma, Lobular/genetics ; Carcinoma, Lobular/pathology ; Exome/genetics ; Female ; Humans ; Immunohistochemistry ; Metaplasia/pathology ; Mutation ; Neoplasm Metastasis
Czasopismo naukowe
Tytuł :
[Diagnosis of a case of 2q37 deletion syndrome by whole exome sequencing combined with whole genome low-coverage sequencing method].
Autorzy :
Lin H; The Affiliated Changzhou No. 2 People's Hospital of Nanjing Medical University, Changzhou, Jiangsu 213003, China. .
Bai L
Yue Y
Xi X
Chen W
Zhou C
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Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2020 Aug 10; Vol. 37 (8), pp. 883-886.
Typ publikacji :
Journal Article
MeSH Terms :
DNA Copy Number Variations*
Whole Exome Sequencing*
Child ; Chromosome Deletion ; Chromosomes, Human, Pair 2/genetics ; Female ; High-Throughput Nucleotide Sequencing ; Humans ; Karyotyping
SCR Disease Name :
Chromosome 2q37 deletion syndrome
Czasopismo naukowe
Tytuł :
Family-based exome sequencing combined with linkage analyses identifies rare susceptibility variants of MUC4 for gastric cancer.
Autorzy :
Choi YJ; Department of Internal Medicine, Seoul National University Bundang Hospital, Seongnam, South Korea.
Ohn JH; Department of Internal Medicine, Seoul National University Bundang Hospital, Seongnam, South Korea.
Kim N; Department of Internal Medicine, Seoul National University Bundang Hospital, Seongnam, South Korea.; Department of Internal Medicine and Liver Research Institute, Seoul National University College of Medicine, Seoul, South Korea.; Tumor Microenvironment Global Core Research Center, College of Pharmacy, Seoul National University, Seoul, South Korea.
Kim W; Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, United States of America.
Park K; Interdisciplinary Program of Bioinformatics, Seoul National University, Seoul, South Korea.
Won S; Interdisciplinary Program of Bioinformatics, Seoul National University, Seoul, South Korea.; Department of Public Health Sciences, Seoul National University, Seoul, South Korea.; Institute of Health and Environment, Seoul National University, Seoul, South Korea.
Sael L; Department of Artificial Intelligence and Data Science, Ajou University, Seoul, South Korea.
Shin CM; Department of Internal Medicine, Seoul National University Bundang Hospital, Seongnam, South Korea.
Lee SM; Department of Internal Medicine, Seoul National University Bundang Hospital, Seongnam, South Korea.
Lee S; Department of Pathology, Seoul National University Bundang Hospital, Seongnam, South Korea.
An HJ; Graduate School of Analytical Science and Technology, Chungnam National University, Daejeon, South Korea.
Jang DM; Tumor Microenvironment Global Core Research Center, College of Pharmacy, Seoul National University, Seoul, South Korea.
Han BW; Tumor Microenvironment Global Core Research Center, College of Pharmacy, Seoul National University, Seoul, South Korea.
Lee HS; Department of Pathology, Seoul National University Bundang Hospital, Seongnam, South Korea.
Kang SJ; Department of Internal Medicine and Healthcare Research Institute, Healthcare System Gangnam Center, Seoul National University Hospital, Seoul, South Korea.
Kim JS; Department of Internal Medicine and Liver Research Institute, Seoul National University College of Medicine, Seoul, South Korea.; Department of Internal Medicine and Healthcare Research Institute, Healthcare System Gangnam Center, Seoul National University Hospital, Seoul, South Korea.
Lee DH; Department of Internal Medicine, Seoul National University Bundang Hospital, Seongnam, South Korea.; Department of Internal Medicine and Liver Research Institute, Seoul National University College of Medicine, Seoul, South Korea.; Tumor Microenvironment Global Core Research Center, College of Pharmacy, Seoul National University, Seoul, South Korea.
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Źródło :
PloS one [PLoS One] 2020 Jul 23; Vol. 15 (7), pp. e0236197. Date of Electronic Publication: 2020 Jul 23 (Print Publication: 2020).
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Linkage*
Genetic Predisposition to Disease*
Genetic Variation*
Whole Exome Sequencing*
Mucin-4/*genetics
Cohort Studies ; Family ; Female ; Germ Cells/metabolism ; Humans ; Male ; Middle Aged ; Mucin-4/chemistry ; Pedigree ; Reproducibility of Results ; Stomach/pathology ; Stomach Neoplasms/genetics
Czasopismo naukowe
Tytuł :
[Analysis of a pedigree affected with propionic acidemia by trio whole exome sequencing].
Autorzy :
Yang Y; Prenatal Diagnosis Center of Jiangxi Women and Children's Health Care Hospital, Nanchang, Jiangxi 330006, China. .
Liu Y
Chen J
Luo H
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Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2020 Jul 10; Vol. 37 (7), pp. 751-754.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Propionic Acidemia*/genetics
Whole Exome Sequencing*
Female ; Heterozygote ; Humans ; Mutation ; Pedigree ; Pregnancy ; Prenatal Diagnosis
Czasopismo naukowe
Tytuł :
Whole-exome sequencing in early-onset Parkinson's disease among ethnic Chinese.
Autorzy :
Li N; Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
Wang L; Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
Zhang J; Department of Internal Medicine, Wangjiang Hospital, Sichuan University, Chengdu, Sichuan, China.
Tan EK; Department of Neurology, National Neuroscience Institute, Singapore General Hospital, Singapore, Singapore; Duke-National University of Singapore Graduate Medical School, Singapore, Singapore.
Li J; Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
Peng J; Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
Duan L; Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
Chen C; Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
Zhou D; Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
He L; Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
Peng R; Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China. Electronic address: .
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Źródło :
Neurobiology of aging [Neurobiol Aging] 2020 Jun; Vol. 90, pp. 150.e5-150.e11. Date of Electronic Publication: 2020 Jan 07.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Association Studies*
Genetic Variation*
Whole Exome Sequencing*
Parkinson Disease/*genetics
Adolescent ; Adult ; Age of Onset ; Asian Continental Ancestry Group/genetics ; China/ethnology ; Female ; Humans ; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2/genetics ; Male ; Middle Aged ; Protein Kinases/genetics ; Young Adult
Czasopismo naukowe
Tytuł :
Advantages and Perils of Clinical Whole-Exome and Whole-Genome Sequencing in Cardiomyopathy.
Autorzy :
Mazzarotto F; Cardiomyopathy Unit, Careggi University Hospital, Florence, Italy. .; Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy. .; Cardiovascular Research Center, Royal Brompton and Harefield NHS Foundation Trust, London, UK. .; National Heart and Lung Institute, Imperial College London, London, UK. .
Olivotto I; Cardiomyopathy Unit, Careggi University Hospital, Florence, Italy.; Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy.
Walsh R; Department of Clinical and Experimental Cardiology, Heart Center, Academic Medical Center, Amsterdam, the Netherlands.
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Źródło :
Cardiovascular drugs and therapy [Cardiovasc Drugs Ther] 2020 Apr; Vol. 34 (2), pp. 241-253.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Genetic Variation*
Molecular Diagnostic Techniques*
Whole Exome Sequencing*
Whole Genome Sequencing*
Cardiomyopathies/*diagnosis
Cardiomyopathies/*genetics
Animals ; Genetic Predisposition to Disease ; High-Throughput Nucleotide Sequencing ; Humans ; Phenotype ; Predictive Value of Tests ; Reproducibility of Results
Czasopismo naukowe
Tytuł :
Implementation of exome sequencing in fetal diagnostics-Data and experiences from a tertiary center in Denmark.
Autorzy :
Becher N; Center for Fetal Diagnostics, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Department of Biomedicine, Health, Aarhus University, Aarhus, Denmark.
Andreasen L; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
Sandager P; Center for Fetal Diagnostics, Aarhus University Hospital, Aarhus, Denmark.; Department of Obstetrics and Gynecology, Aarhus University Hospital, Aarhus, Denmark.
Lou S; Center for Fetal Diagnostics, Aarhus University Hospital, Aarhus, Denmark.; DEFACTUM-Public Health & Health Services Research, Central Denmark Region, Aarhus, Denmark.
Petersen OB; Center for Fetal Diagnostics, Aarhus University Hospital, Aarhus, Denmark.; Department of Obstetrics and Gynecology, Aarhus University Hospital, Aarhus, Denmark.
Christensen R; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
Vogel I; Center for Fetal Diagnostics, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.
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Źródło :
Acta obstetricia et gynecologica Scandinavica [Acta Obstet Gynecol Scand] 2020 Jun; Vol. 99 (6), pp. 783-790.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Whole Exome Sequencing*
Congenital Abnormalities/*genetics
Fetus/*abnormalities
Congenital Abnormalities/diagnostic imaging ; Denmark ; Female ; Fetal Development/genetics ; High-Throughput Nucleotide Sequencing ; Humans ; Pregnancy ; Prenatal Diagnosis ; Retrospective Studies ; Ultrasonography, Prenatal
Czasopismo naukowe
Tytuł :
Rare splicing mutation in COL1A1 gene identified by whole exomes sequencing in a patient with osteogenesis imperfecta type I followed by prenatal diagnosis: A case report and review of the literature.
Autorzy :
Gug C; Department of Microscopic Morphology, 'Victor Babes' University of Medicine and Pharmacy, Timisoara, Romania.
Caba L; Department 8 - Medicine of Mother and Child 'Grigore T. Popa', University of Medicine and Pharmacy, Iasi, Romania. Electronic address: .
Mozos I; Department of Functional Sciences, 'Victor Babes' University of Medicine and Pharmacy, Timisoara, Romania; Center for Translational Research and Systems Medicine, 'Victor Babes' University of Medicine and Pharmacy, Timisoara, Romania. Electronic address: .
Stoian D; 2nd Department of Internal Medicine, 'Victor Babes' University of Medicine and Pharmacy, Timisoara, Romania. Electronic address: .
Atasie D; Department of Clinical Medicine, Faculty of Medicine, 'Lucian Blaga' University, Sibiu, Romania.
Gug M; 'Victor Babes' University of Medicine and Pharmacy, Timisoara, Romania.
Gorduza EV; Department 8 - Medicine of Mother and Child 'Grigore T. Popa', University of Medicine and Pharmacy, Iasi, Romania.
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Źródło :
Gene [Gene] 2020 May 30; Vol. 741, pp. 144565. Date of Electronic Publication: 2020 Mar 10.
Typ publikacji :
Case Reports; Journal Article; Systematic Review
MeSH Terms :
Whole Exome Sequencing*
Collagen Type I/*genetics
Osteogenesis Imperfecta/*genetics
Protein Isoforms/*genetics
Adult ; Alternative Splicing/genetics ; Exome/genetics ; Female ; Genotype ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Mutation/genetics ; Osteogenesis Imperfecta/pathology ; Pedigree ; Pregnancy ; Prenatal Diagnosis
Czasopismo naukowe
Tytuł :
A Chinese family of autosomal recessive polycystic kidney disease identified by whole exome sequencing.
Autorzy :
Zhang J; Department of Nephrology, the key Laboratory for the Prevention and Treatment of Chronic Kidney Disease of Chongqing, Kidney Center of PLA, Xinqiao Hospital.
Dai LM; Department of Medical Genetics, Army Medical University (Third Military Medical University), Chongqing, China.
Li FR; Department of Nephrology, the key Laboratory for the Prevention and Treatment of Chronic Kidney Disease of Chongqing, Kidney Center of PLA, Xinqiao Hospital.
Zhang B; Department of Nephrology, the key Laboratory for the Prevention and Treatment of Chronic Kidney Disease of Chongqing, Kidney Center of PLA, Xinqiao Hospital.
Zhao JH; Department of Nephrology, the key Laboratory for the Prevention and Treatment of Chronic Kidney Disease of Chongqing, Kidney Center of PLA, Xinqiao Hospital.
Cheng JB; Department of Nephrology, the key Laboratory for the Prevention and Treatment of Chronic Kidney Disease of Chongqing, Kidney Center of PLA, Xinqiao Hospital.
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Źródło :
Medicine [Medicine (Baltimore)] 2020 May 29; Vol. 99 (22), pp. e20413.
Typ publikacji :
Journal Article
MeSH Terms :
Whole Exome Sequencing*/methods
Polycystic Kidney, Autosomal Recessive/*genetics
Adaptor Proteins, Signal Transducing/genetics ; Adult ; Child ; China ; Female ; Genetic Predisposition to Disease/genetics ; Humans ; Mutation, Missense/genetics ; Receptors, Cell Surface/genetics ; Sequence Deletion/genetics
Czasopismo naukowe
Tytuł :
A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5.
Autorzy :
Li W; Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital, Children's Hospital of Guangxi Zhuang Autonomous Region, Nanning, 530002, China.
Fan X; Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital, Children's Hospital of Guangxi Zhuang Autonomous Region, Nanning, 530002, China.
Zhang Y; Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital, Children's Hospital of Guangxi Zhuang Autonomous Region, Nanning, 530002, China.
Huang L; Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital, Children's Hospital of Guangxi Zhuang Autonomous Region, Nanning, 530002, China.
Jiang T; Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital, Children's Hospital of Guangxi Zhuang Autonomous Region, Nanning, 530002, China.
Qin Z; Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital, Children's Hospital of Guangxi Zhuang Autonomous Region, Nanning, 530002, China.
Su J; Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital, Children's Hospital of Guangxi Zhuang Autonomous Region, Nanning, 530002, China.
Luo J; Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital, Children's Hospital of Guangxi Zhuang Autonomous Region, Nanning, 530002, China.
Yi S; Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital, Children's Hospital of Guangxi Zhuang Autonomous Region, Nanning, 530002, China.
Zhang S; Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital, Children's Hospital of Guangxi Zhuang Autonomous Region, Nanning, 530002, China.; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
Shen Y; Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital, Children's Hospital of Guangxi Zhuang Autonomous Region, Nanning, 530002, China. .; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China. .; Division of Genetics and Genomics, Boston Children's Hospital, Boston, USA. .; Department of Neurology, Harvard Medical School, Boston, MA, 02115, USA. .
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Źródło :
BMC medical genetics [BMC Med Genet] 2020 May 11; Vol. 21 (1), pp. 100. Date of Electronic Publication: 2020 May 11.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Whole Exome Sequencing*
DNA Copy Number Variations/*genetics
Lysosome-Associated Membrane Glycoproteins/*genetics
Neuronal Ceroid-Lipofuscinoses/*genetics
Child ; Child, Preschool ; Female ; Frameshift Mutation/genetics ; Gene Deletion ; Homozygote ; Humans ; Infant ; Male ; Membrane Proteins/genetics ; Neuronal Ceroid-Lipofuscinoses/pathology
SCR Disease Name :
Ceroid lipofuscinosis, neuronal 5
Czasopismo naukowe
Tytuł :
Whole exome sequencing (WES) approach for diagnosing primary immunodeficiencies (PIDs) in a highly consanguineous community.
Autorzy :
Simon AJ; Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center, 'Edmond and Lily Safra' Children's Hospital, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Israel; Division of Haematology and Bone Marrow Transplantation, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Israel; Sheba Cancer Research Center, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Israel.
Golan AC; Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center, 'Edmond and Lily Safra' Children's Hospital, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Israel.
Lev A; Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center, 'Edmond and Lily Safra' Children's Hospital, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Israel.
Stauber T; Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center, 'Edmond and Lily Safra' Children's Hospital, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Israel.
Barel O; Sheba Cancer Research Center, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Israel.
Somekh I; Dr. von Hauner Children's Hospital, University Hospital, Ludwig Maximilian University, Munich, Germany.
Klein C; Dr. von Hauner Children's Hospital, University Hospital, Ludwig Maximilian University, Munich, Germany.
AbuZaitun O; Ambulatory Pediatrics, Nablus, Palestinian Authority.
Eyal E; Sheba Cancer Research Center, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Israel.
Kol N; Sheba Cancer Research Center, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Israel.
Unal E; Department of Pediatrics, Division of Pediatric Hematology & Oncology, 2-Molecular Biology and Genetic Department, Gevher Nesibe Genom and Stem Cell Institution, GENKOK Genome and Stem Cell Center, Erciyes University, Kayseri, Turkey.
Amariglio N; Division of Haematology and Bone Marrow Transplantation, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Israel; Sheba Cancer Research Center, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Israel; The Everard and Mina Goodman Faculty of Life Sciences, Bar-Ilan University, Ramat Gan, Israel.
Rechavi G; Sheba Cancer Research Center, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Israel; The Everard and Mina Goodman Faculty of Life Sciences, Bar-Ilan University, Ramat Gan, Israel.
Somech R; Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center, 'Edmond and Lily Safra' Children's Hospital, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Israel. Electronic address: .
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Źródło :
Clinical immunology (Orlando, Fla.) [Clin Immunol] 2020 May; Vol. 214, pp. 108376. Date of Electronic Publication: 2020 Mar 03.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
Whole Exome Sequencing*
Primary Immunodeficiency Diseases/*diagnosis
Adolescent ; Adult ; Autoimmune Diseases/epidemiology ; Autoimmune Diseases/genetics ; Child ; Child, Preschool ; Clinical Decision-Making ; Consanguinity ; Disease Management ; Female ; Genotype ; Hematopoietic Stem Cell Transplantation ; Humans ; Infant ; Infant, Newborn ; Inflammatory Bowel Diseases/epidemiology ; Inflammatory Bowel Diseases/genetics ; Israel/epidemiology ; Male ; Primary Immunodeficiency Diseases/epidemiology ; Primary Immunodeficiency Diseases/genetics ; Primary Immunodeficiency Diseases/therapy ; Young Adult
Czasopismo naukowe

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