Autor: "Kayserili H" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
Autorzy:: Acuna-Hidalgo R; Department of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
Deriziotis P; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.
Steehouwer M; Department of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
Gilissen C; Department of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.
Graham SA; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.
van Dam S; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands.
Hoover-Fong J; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, United States of America.
Telegrafi AB; GeneDx, Gaithersburg, Maryland, United States of America.
Destree A; Institute of Pathology and Genetics (IPG), Gosselies, Belgium.
Smigiel R; Department of Pediatrics and Rare Disorders, Medical University, Wroclaw, Poland.
Lambie LA; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Kayserili H; Medical Genetics Department, Koç University School of Medicine (KUSOM), İstanbul, Turkey.
Altunoglu U; Medical Genetics Department, İstanbul Medical Faculty, İstanbul University, İstanbul, Turkey.
Lapi E; Medical Genetics Unit, Anna Meyer Children's University Hospital, Florence, Italy.
Uzielli ML; University of Florence, Genetic Science, Firenze, Italy.
Aracena M; División de Pediatría, Pontificia Universidad Católica de Chile and Unidad de Genética, Hospital Dr. Luis Calvo Mackenna, Santiago Chile.
Nur BG; Department of Pediatric Genetics, Akdeniz University Medical School, Antalya, Turkey.
Mihci E; Department of Pediatric Genetics, Akdeniz University Medical School, Antalya, Turkey.
Moreira LM; Laboratory of Human Genetics, Biology Institute, Federal University of Bahia (UFBA), Bahia, Brazil.
Borges Ferreira V; Hospital Santa Izabel, Salvador-Bahia, Brazil.
Horovitz DD; CERES-Genetica Reference Center and Studies in Medical Genetics and Instituto Fernandes Figueira / Fiocruz, Rio de Janeiro, Brazil.
da Rocha KM; Center for Human Genome Studies, Institute of Biosciences, USP, Sao Paulo, Brazil.
Jezela-Stanek A; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.
Brooks AS; Department of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands.
Reutter H; Institute of Human Genetics, University of Bonn, Bonn, Germany and Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University of Bonn, Bonn, Germany.
Cohen JS; Division of Neurogenetics, Kennedy Krieger Institute, Departments of Neurology and Pediatrics, The Johns Hopkins Hospital, Baltimore, Maryland, United States of America.
Fatemi A; Division of Neurogenetics, Kennedy Krieger Institute, Departments of Neurology and Pediatrics, The Johns Hopkins Hospital, Baltimore, Maryland, United States of America.
Smitka M; Abteilung Neuropädiatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Germany.
Grebe TA; Division of Genetics & Metabolism, Phoenix Children's Hospital, Phoenix, Arizona, United States of America.
Di Donato N; Institute for Clinical Genetics, TU Dresden, Dresden, Germany.
Deshpande C; Department of Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom.
Vandersteen A; North West Thames Regional Genetics Unit, Kennedy Galton Centre, North West London Hospitals NHS Trust, Northwick Park & St Marks Hospital, Harrow, Middlesex, United Kingdom.
Marques Lourenço C; Neurogenetics Unit, Department of Medical Genetics School of Medicine of Ribeirao Preto, University of Sao Paulo, Sao Paulo, Brazil.
Dufke A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Rossier E; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Andre G; Unité de foetopathologie, Hôpital Pellegrin, Place Amélie Raba Léon, Bordeaux, France.
Baumer A; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.
Spencer C; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
McGaughran J; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland and School of Medicine, The University of Queensland, Brisbane, Queensland, Australia.
Franke L; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands.
Veltman JA; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.; Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, United Kingdom.
De Vries BB; Department of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.
Schinzel A; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.
Fisher SE; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.
Hoischen A; Department of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, The Netherlands.
van Bon BW; Department of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Pokaż więcej
Źródło:: PLoS genetics [PLoS Genet] 2017 Mar 27; Vol. 13 (3), pp. e1006683. Date of Electronic Publication: 2017 Mar 27 (Print Publication: 2017).
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Mutation*
Abnormalities, Multiple/*genetics
Carrier Proteins/*genetics
Craniofacial Abnormalities/*genetics
Genetic Predisposition to Disease/*genetics
Hand Deformities, Congenital/*genetics
Hematologic Neoplasms/*genetics
Intellectual Disability/*genetics
Nails, Malformed/*genetics
Nuclear Proteins/*genetics
Abnormalities, Multiple/metabolism ; Abnormalities, Multiple/pathology ; Blotting, Western ; Carrier Proteins/metabolism ; Cell Line ; Cell Proliferation/genetics ; Cell Transformation, Neoplastic/genetics ; Child ; Child, Preschool ; Craniofacial Abnormalities/metabolism ; Craniofacial Abnormalities/pathology ; Female ; Gene Expression Profiling ; Genetic Association Studies ; Germ-Line Mutation ; HEK293 Cells ; Hand Deformities, Congenital/metabolism ; Hand Deformities, Congenital/pathology ; Hematologic Neoplasms/metabolism ; Hematologic Neoplasms/pathology ; Humans ; Infant ; Infant, Newborn ; Intellectual Disability/metabolism ; Intellectual Disability/pathology ; Male ; Nails, Malformed/metabolism ; Nails, Malformed/pathology ; Nuclear Proteins/metabolism ; Phenotype
SCR Disease Name:: Schinzel-Giedion syndrome

Czasopismo naukowe

na półce

Pełny tekst Szczegóły

Skocz do pozycji: 2.

Tytuł:: Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome.
Autorzy:: Atik T; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, 1501 NW 10th Avenue, BRB-610 M-860, Miami, FL, 33136, USA. .; Division of Genetics, Department of Pediatrics, Ege University School of Medicine, Izmir, Turkey. .
Koparir A; Department of Medical Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey. .
Bademci G; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, 1501 NW 10th Avenue, BRB-610 M-860, Miami, FL, 33136, USA. .
Foster J 2nd; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, 1501 NW 10th Avenue, BRB-610 M-860, Miami, FL, 33136, USA. .
Altunoglu U; Department of Medical Genetics, Istanbul Medical School, Istanbul University, Istanbul, Turkey. .
Mutlu GY; Division of Pediatric Endocrinology and Diabetes, Kocaeli University School of Medicine, Kocaeli, Turkey. .
Bowdin S; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada. .
Elcioglu N; Division of Genetics, Department of Pediatrics, Marmara University School of Medicine, Istanbul, Turkey. .
Tayfun GA; Division of Genetics, Department of Pediatrics, Marmara University School of Medicine, Istanbul, Turkey. .
Atik SS; Department of Ophthalmology, Ataturk Teaching and Research Hospital, Katip Celebi University, Izmir, Turkey. .
Ozen M; Department of Medical Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey. .; Department of Medical Genetics/Molecular Biology and Genetics Biruni University, Istanbul, Turkey. .
Ozkinay F; Division of Genetics, Department of Pediatrics, Ege University School of Medicine, Izmir, Turkey. .
Alanay Y; Division of Genetics, Department of Pediatrics, Acibadem University Medical Faculty, Istanbul, Turkey. .
Kayserili H; Department of Medical Genetics, Istanbul Medical School, Istanbul University, Istanbul, Turkey. .; Medical Genetics Department, Koç University School of Medicine, Istanbul, Turkey. .
Thiel S; Department of Biomedicine, Aarhus University, Aarhus, Denmark. .
Tekin M; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, 1501 NW 10th Avenue, BRB-610 M-860, Miami, FL, 33136, USA. .; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2015 Sep 30; Vol. 10, pp. 128. Date of Electronic Publication: 2015 Sep 30.
Typ publikacji:: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:: Phenotype*
Abnormalities, Multiple/*diagnosis
Abnormalities, Multiple/*genetics
Mannose-Binding Protein-Associated Serine Proteases/*genetics
Mutation/*genetics
Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Syndrome ; Young Adult