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Tytuł :
Clinical and molecular analysis of RASopathies in a group of Turkish patients.
Autorzy :
Şimşek‐Kiper, PÖ
Alanay, Y
Gülhan, B
Lissewski, C
Türkyılmaz, D
Alehan, D
Çetin, M
Utine, GE
Zenker, M
Boduroğlu, K
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Źródło :
Clinical Genetics; Feb2013, Vol. 83 Issue 2, p181-186, 6p, 1 Black and White Photograph, 2 Charts
Temat :
TURKS
DISEASE research
PATHOLOGICAL physiology
NOONAN syndrome
BIOLOGICAL mutation
DISEASES and disorders
Terminy geograficzne :
TURKEY
Czasopismo naukowe
Tytuł :
Novel insights into diabetes mellitus due to DNAJC3-defect:Evolution of neurological and endocrine phenotype in the pediatric age group.
Autorzy :
Ozon ZA; Dept. Pediatrics, Division of Endocrinology, Hacettepe University, Ankara.
Alikasifoglu A; Dept. Pediatrics, Division of Endocrinology, Hacettepe University, Ankara.
Kandemir N; Dept. Pediatrics, Division of Endocrinology, Hacettepe University, Ankara.
Aydin B; Dept. Medical Genetics, Hacettepe University, Ankara.
Gonc EN; Dept. Pediatrics, Division of Endocrinology, Hacettepe University, Ankara.
Karaosmanoglu B; Dept. Medical Genetics, Hacettepe University, Ankara.
Celik NB; Dept. Pediatrics, Division of Endocrinology, Hacettepe University, Ankara.
Eroglu-Ertugrul NG; Dept. Pediatrics, Division of Neurology, Hacettepe University, Ankara.
Taskiran EZ; Dept. Medical Genetics, Hacettepe University, Ankara.
Haliloglu G; Dept. Pediatrics, Division of Neurology, Hacettepe University, Ankara.
Oguz KK; Dept. Radiology, Hacettepe University, Ankara.
Kiper P; Dept. Pediatrics, Division of Genetics, Hacettepe University, Ankara.
Yalnizoglu D; Dept. Pediatrics, Division of Neurology, Hacettepe University, Ankara.
Utine GE; Dept. Pediatrics, Division of Genetics, Hacettepe University, Ankara.
Alikasifoglu M; Dept. Medical Genetics, Hacettepe University, Ankara.
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Źródło :
Pediatric diabetes [Pediatr Diabetes] 2020 Aug 01. Date of Electronic Publication: 2020 Aug 01.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Munksgaard Country of Publication: Denmark NLM ID: 100939345 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-5448 (Electronic) Linking ISSN: 1399543X NLM ISO Abbreviation: Pediatr Diabetes Subsets: MEDLINE
Czasopismo naukowe
Tytuł :
A Revisited Diagnosis of Collagen VI Related Muscular Dystrophy in a Patient with a Novel COL6A2 Variant and 21q22.3 Deletion.
Autorzy :
Simsek-Kiper PO; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Oguz S; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Ergen FB; Department of Radiology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Utine GE; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Alikasifoglu M; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Haliloglu G; Department of Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
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Źródło :
Neuropediatrics [Neuropediatrics] 2020 Jul 14. Date of Electronic Publication: 2020 Jul 14.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Hippokrates Verlag Country of Publication: Germany NLM ID: 8101187 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1439-1899 (Electronic) Linking ISSN: 0174304X NLM ISO Abbreviation: Neuropediatrics Subsets: MEDLINE
Czasopismo naukowe
Tytuł :
Genetic IGF1R defects: new cases expand the spectrum of clinical features.
Autorzy :
Gonc EN; Department of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, 06100, Ankara, Turkey. .
Ozon ZA; Department of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, 06100, Ankara, Turkey.
Oguz S; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Kabacam S; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Taskiran EZ; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Kiper POS; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Utine GE; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Alikasifoglu A; Department of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, 06100, Ankara, Turkey.
Kandemir N; Department of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, 06100, Ankara, Turkey.
Boduroglu OK; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Alikasifoglu M; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
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Źródło :
Journal of endocrinological investigation [J Endocrinol Invest] 2020 Apr 30. Date of Electronic Publication: 2020 Apr 30.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Springer Country of Publication: Italy NLM ID: 7806594 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1720-8386 (Electronic) Linking ISSN: 03914097 NLM ISO Abbreviation: J. Endocrinol. Invest. Subsets: MEDLINE
Czasopismo naukowe
Tytuł :
Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing.
Autorzy :
Guleray N; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Kosukcu C; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Department of Bioinformatics, Hacettepe University Institute of Health Sciences, Ankara, Turkey.
Taskiran ZE; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Simsek Kiper PO; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Utine GE; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Gucer S; Division of Pediatric Pathology, Department of Pediatrics, Hacettepe Universitesi Faculty of Medicine, Ankara, Turkey.
Tokatli A; Division of Pediatric Metabolism and Nutrition, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Boduroglu K; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Alikasifoglu M; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
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Źródło :
Fetal and pediatric pathology [Fetal Pediatr Pathol] 2020 Apr; Vol. 39 (2), pp. 163-171. Date of Electronic Publication: 2019 Jul 15.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Informa Healthcare Country of Publication: England NLM ID: 101230972 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1551-3823 (Electronic) Linking ISSN: 15513815 NLM ISO Abbreviation: Fetal Pediatr Pathol Subsets: In Process; MEDLINE
Czasopismo naukowe
Tytuł :
A novel mutation of keratin 5 in epidermolysis bullosa simplex with migratory circinate erythema.
Autorzy :
Yalici-Armagan B; Department of Dermatology and Venereology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Kabacam S; Department of Medical Genetics, Faculty of Medicine, Molecular Biologist, Hacettepe University, Ankara, Turkey.
Taskiran ZE; Department of Medical Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Gököz Ö; Department of Pathology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Utine GE; Department of Pediatric Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Ersoy-Evans S; Department of Dermatology and Venereology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
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Źródło :
Pediatric dermatology [Pediatr Dermatol] 2020 Mar; Vol. 37 (2), pp. 358-361. Date of Electronic Publication: 2020 Jan 21.
Typ publikacji :
Case Reports
Journal Info :
Publisher: Wiley Country of Publication: United States NLM ID: 8406799 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-1470 (Electronic) Linking ISSN: 07368046 NLM ISO Abbreviation: Pediatr Dermatol Subsets: In Process; MEDLINE
Raport
Tytuł :
Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts.
Autorzy :
Buers I; Department of General Pediatrics, Münster University Children's Hospital, Münster, Germany.
Persico I; Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Cagliari, Italy.
Schöning L; Department of General Pediatrics, Münster University Children's Hospital, Münster, Germany.
Nitschke Y; Department of General Pediatrics, Münster University Children's Hospital, Münster, Germany.
Di Rocco M; Unit of Rare Diseases, Department of Pediatrics, Gaslini Institute, Genoa, Italy.
Loi A; Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Cagliari, Italy.
Sahi PK; Department of Pediatrics, Maulana Azad Medical College and Lok Nayak Hospital, New Delhi, India.
Utine GE; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Bayraktar-Tanyeri B; Department of Neonatology, Bezmialem Vakif University, Istanbul, Turkey.
Zampino G; Department of Woman and Child Health, Center for Rare Diseases and Birth Defects, Institute of Pediatrics, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy.
Crisponi G; Clinica Sant'Anna, Cagliari, Italy.
Rutsch F; Department of General Pediatrics, Münster University Children's Hospital, Münster, Germany.
Crisponi L; Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Cagliari, Italy.; Department of Biomedical Science, University of Sassari, Sassari, Italy.
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Źródło :
Clinical genetics [Clin Genet] 2020 Jan; Vol. 97 (1), pp. 209-221. Date of Electronic Publication: 2019 Sep 16.
Typ publikacji :
Journal Article; Review; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin. Genet. Subsets: In Process; MEDLINE
Czasopismo naukowe
Tytuł :
Peters Plus syndrome: a recognizable clinical entity.
Autorzy :
Demir GÜ; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Lafcı NG; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Doğan ÖA; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Şimşek-Kiper PÖ; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Utine GE; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
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Źródło :
The Turkish journal of pediatrics [Turk J Pediatr] 2020; Vol. 62 (1), pp. 136-140.
Typ publikacji :
Case Reports
Journal Info :
Publisher: Hacettepe Medical Center Country of Publication: Turkey NLM ID: 0417505 Publication Model: Print Cited Medium: Internet ISSN: 0041-4301 (Print) Linking ISSN: 00414301 NLM ISO Abbreviation: Turk. J. Pediatr. Subsets: In Process; MEDLINE
Raport
Tytuł :
ADA2 deficiency in a patient with Noonan syndrome-like disorder with loose anagen hair: The co-occurrence of two rare syndromes.
Autorzy :
Akgun-Dogan O; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Division of Pediatric Genetics, Department of Pediatrics, Ümraniye Training and Research Hospital, Istanbul, Turkey.
Simsek-Kiper PO; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Taskiran E; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Lissewski C; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
Brinkmann J; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
Schanze D; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
Göçmen R; Department of Radiology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Cagdas D; Division of Pediatric Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Bilginer Y; Division of Pediatric Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Utine GE; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Zenker M; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
Ozen S; Division of Pediatric Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Tezcan İ; Division of Pediatric Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Alikasifoglu M; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Boduroğlu K; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2019 Dec; Vol. 179 (12), pp. 2474-2480. Date of Electronic Publication: 2019 Oct 04.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
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: In Process; MEDLINE
Czasopismo naukowe
Tytuł :
Intrafamilial variability of XYLT2-related spondyloocular syndrome.
Autorzy :
Guleray N; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey. Electronic address: .
Simsek Kiper PO; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Utine GE; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Boduroglu K; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Alikasifoglu M; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2019 Nov; Vol. 62 (11), pp. 103585. Date of Electronic Publication: 2018 Nov 27.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE
MeSH Terms :
Cataract/*genetics
Craniofacial Abnormalities/*genetics
Eye Diseases, Hereditary/*genetics
Musculoskeletal Abnormalities/*genetics
Osteochondrodysplasias/*genetics
Osteoporosis/*genetics
Pentosyltransferases/*genetics
Retinal Detachment/*genetics
Adolescent ; Adult ; Cataract/physiopathology ; Child ; Child, Preschool ; Craniofacial Abnormalities/physiopathology ; Eye Diseases, Hereditary/physiopathology ; Female ; Homozygote ; Humans ; Male ; Musculoskeletal Abnormalities/pathology ; Mutation, Missense/genetics ; Osteochondrodysplasias/physiopathology ; Osteoporosis/physiopathology ; Pedigree ; Phenotype ; Retinal Detachment/physiopathology ; Siblings ; Whole Exome Sequencing ; Young Adult
SCR Disease Name :
Spondyloocular Syndrome, Autosomal Recessive
Czasopismo naukowe
Tytuł :
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Autorzy :
van der Sluijs PJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Jansen S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, VA, USA.
Adachi-Fukuda M; Department of Pediatrics, St. Marianna University School of Medicine, Kanagawa, Japan.
Alanay Y; School of Medicine, Department of Pediatrics, Pediatric Genetics Unit, Acibadem University, Istanbul, Turkey.
AlKindy A; Department of Genetics, Sultan Qaboos University Hospital, Muscat, Oman.
Baban A; Pediatric Cardiology and Cardiac Surgery Department, Bambino Gesù Children Hospital and Research Institute, IRCCS, Rome, Italy.
Bayat A; Copenhagen University Hospital Hvidovre, Copenhagen, Denmark.
Beck-Wödl S; Department of Molecular Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.
Berry K; Department of Medical Genetics, Shodair Hospital, Helena, MT, USA.
Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Bok LA; Department of Pediatrics, Màxima Medical Centre, Veldhoven, The Netherlands.
Brouwer AFJ; Department of Paediatrics, Nij Smellinghe Hospital, Drachten, The Netherlands.
van der Burgt I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Campeau PM; Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada.
Canham N; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, United Kingdom.; Cheshire and Merseyside Regional Genetics Service, Liverpool Women's Hospital, Crown Street, Liverpool, United Kingdom.
Chrzanowska K; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
Chu YWY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.
Chung BHY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.
Dahan K; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.
De Rademaeker M; Center for Medical Genetics, Vrije Universiteit Brussels, Brussels, Belgium.
Destree A; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.
Dudding-Byth T; Hunter Genetics and University of Newcastle, GrowUpWell Priority Research Centre, Newcastle, Australia.
Earl R; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.
Elcioglu N; Department of Pediatric Genetics, Marmara University Pendik Hospital, Istanbul, Turkey.
Elias ER; Department of Pediatrics and Genetics, University of Colorado Denver School of Medicine, Aurora, CO, USA.
Fagerberg C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Gardham A; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, United Kingdom.
Gener B; Department of Genetics, Cruces University Hospital, Biocruces Health Research Institute, Vizcayam, Spain.
Gerkes EH; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
Grasshoff U; Department of Molecular Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.
van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Heitink KR; Department of Rehabilitation Medicine, Leiden University Medical Center, Leiden, The Netherlands.
Herkert JC; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
den Hollander NS; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Horn D; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin, Berlin, Germany.
Hunt D; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom.
Kant SG; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.
Kayserili H; Medical Genetics Department, Koç University School of Medicine (KUSoM), İstanbul, Turkey.
Kersseboom R; Department of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands.
Kilic E; Department of Pediatric Genetics, Hematology Oncology Research & Training Children's Hospital, Ankara, Turkey.
Krajewska-Walasek M; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
Lammers K; Department of Medical Genetics, Dayton Children's Hospital, Dayton, OH, USA.
Laulund LW; Department of Paediatrics, Odense University Hospital, Odense, Denmark.
Lederer D; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.
Lees M; Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom.
López-González V; Sección de Genética Médica, Servicio de Pediatria, Hospital Clinico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, CIBERERISCIII, Murcia, Spain.
Maas S; Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Mancini GMS; Department of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands.
Marcelis C; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Martinez F; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
Maystadt I; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.
McGuire M; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA.
McKee S; Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast, Ireland.
Mehta S; East Anglian Regional Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital, Cambridge, United Kingdom.
Metcalfe K; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, United Kingdom.
Milunsky J; Center for Human Genetics Inc, Cambridge, MA, USA.
Mizuno S; Department of Pediatrics, Central Hospital, Aichi Human Service Center, Kasugai, Aichi, Japan.
Moeschler JB; Department of Pediatrics, Geisel School of Medicine, Dartmouth College, Hanover, NH, USA.
Netzer C; Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.
Ockeloen CW; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Oehl-Jaschkowitz B; Gemeinschaftspraxis für Humangenetik Homburg/Saar, Homburg, Germany.
Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
Olminkhof SNM; Willem Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands.
Orellana C; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
Pasquier L; CRMR Déficiences intellectuelles, Service de Génétique Médicale, CLAD Ouest CHU Hôpital Sud, Rennes, France.
Pottinger C; All Wales Medical Genetics Service, Glan Clwyd Hospital, Rhyl, United Kingdom.
Riehmer V; Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.
Robertson SP; Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
Roifman M; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, ON, Canada.
Rooryck C; Department of Medical Genetics, CHU Bordeaux, Bordeaux, France.
Ropers FG; Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.
Rosello M; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Sagiroglu MS; Genpute Computation Technologies Company, Istanbul, Turkey.
Sallevelt SCEH; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.
Calvo AS; Servicio de Pediatría, Hospital Universitario Doctor Peset, Valencia, Spain.
Simsek-Kiper PO; Department of Pediatric Genetics, Ihsan Dogramaci Children's Hospital, Hacettepe University School of Medicine, Ankara, Turkey.
Soares G; Jacinto de Magalhães Medical Genetics Center, Centro Hospitalar do Porto, Porto, Portugal.
Solaeche L; Departamento de neurometabólicas, Hospital Universitario Son Espases, Palma de Mallorca, Spain.
Sonmez FM; Karadeniz Technical University, Faculty of Medicine, Dept of Child Neurology, Retired Professor, Trabzon, Turkey.
Splitt M; Northern Genetics Service, Institute of Genetics Medicine, Newcastle upon Tyne, United Kingdom.
Steenbeek D; Department of Rehabilitation Medicine, Leiden University Medical Center, Leiden, The Netherlands.
Stegmann APA; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.
Stumpel CTRM; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.
Tanabe S; Division of Pediatrics, Yamagata Prefectural and Sakata Munici pal Hospital Organization Nihon-Kai General Hospital, Sakata, Japan.
Uctepe E; Enva Engineering, Ankara, Turkey.
Utine GE; Department of Pediatric Genetics, Ihsan Dogramaci Children's Hospital, Hacettepe University School of Medicine, Ankara, Turkey.
Veenstra-Knol HE; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
Venkateswaran S; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.
Vilain C; Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, ULB Center of Medical Genetics, Université Libre de Bruxelles, Brussels, Belgium.; Department of Genetics, Hôpital Erasme. ULB Center of Medical Genetics, Université Libre de Bruxelles, Brussels, Belgium.
Vincent-Delorme C; Service de génétique clinique Guy Fontaine, CHRU de Lille-Hôpital Jeanne de Flandre, Lille, France.
Vulto-van Silfhout AT; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Wheeler P; Division of Genetics, Arnold Palmer Hospital, Orlando, FL, USA.
Wilson GN; KinderGenome Genetics, Medical City Hospital Dallas, Dallas, TX, USA.
Wilson LC; Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom.
Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
Kosho T; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.
Wieczorek D; Institute of Human Genetics, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
Eichler E; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Clayton-Smith J; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, United Kingdom.
Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. .
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Sep; Vol. 21 (9), pp. 2160-2161.
Typ publikacji :
Published Erratum
Journal Info :
Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet. Med. Subsets: PubMed not MEDLINE; MEDLINE
Tytuł :
A case of Woodhouse-Sakati syndrome with pituitary iron deposition, cardiac and intestinal anomalies, with a novel mutation in DCAF17.
Autorzy :
Sendur SN; Hacettepe University School of Medicine, Department of Endocrinology and Metabolism, Ankara, Turkey. Electronic address: .
Oguz S; Hacettepe University School of Medicine, Department of Medical Genetics, Ankara, Turkey.
Utine GE; Hacettepe University School of Medicine, Department of Medical Genetics, Ankara, Turkey.
Dagdelen S; Hacettepe University School of Medicine, Department of Endocrinology and Metabolism, Ankara, Turkey.
Oguz KK; Hacettepe University School of Medicine, Department of Radiology, Ankara, Turkey.
Erbas T; Hacettepe University School of Medicine, Department of Endocrinology and Metabolism, Ankara, Turkey.
Alikasifoglu M; Hacettepe University School of Medicine, Department of Medical Genetics, Ankara, Turkey.
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2019 Aug; Vol. 62 (8), pp. 103687. Date of Electronic Publication: 2019 May 29.
Typ publikacji :
Case Reports; Letter
Journal Info :
Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE
MeSH Terms :
Alopecia/*genetics
Arrhythmias, Cardiac/*genetics
Basal Ganglia Diseases/*genetics
Diabetes Mellitus/*genetics
Hypogonadism/*genetics
Intellectual Disability/*genetics
Nuclear Proteins/*genetics
Ubiquitin-Protein Ligase Complexes/*genetics
Adolescent ; Alopecia/complications ; Alopecia/pathology ; Arrhythmias, Cardiac/complications ; Arrhythmias, Cardiac/pathology ; Basal Ganglia Diseases/complications ; Basal Ganglia Diseases/pathology ; Consanguinity ; Diabetes Mellitus/pathology ; Female ; Humans ; Hypogonadism/complications ; Hypogonadism/pathology ; Intellectual Disability/complications ; Intellectual Disability/pathology ; Iron/metabolism ; Mutation/genetics ; Pituitary Gland/metabolism
SCR Disease Name :
Woodhouse Sakati syndrome
Raport
Tytuł :
Ophthalmo-acromelic syndrome in an infant.
Autorzy :
Ürel-Demir G; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. Electronic address: .
Taşkıran EZ; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Akgün-Doğan Ö; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Şimşek-Kiper PÖ; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Utine GE; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2019 Jul; Vol. 62 (7), pp. 103664. Date of Electronic Publication: 2019 May 05.
Typ publikacji :
Case Reports; Journal Article; Review
Journal Info :
Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE
MeSH Terms :
Waardenburg Syndrome/*genetics
Codon, Nonsense ; Female ; Homozygote ; Humans ; Infant ; Osteonectin/genetics ; Waardenburg Syndrome/pathology
SCR Disease Name :
Anophthalmos with limb anomalies
Czasopismo naukowe
Tytuł :
Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.
Autorzy :
Simsek-Kiper PO; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Taskiran E; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Kosukcu C; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Department of Bioinformatics, Hacettepe University Institute of Health Sciences, Ankara, Turkey.
Arslan UE; Department of Health Research, Institute of Public Health, Hacettepe University, Ankara, Turkey.
Cormier-Daire V; Department of Genetics, INSERM UMR 1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, AP-HP, Hôpital Necker Enfants Malades, Paris, France.
Gonc N; Department of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Ozon A; Department of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Alikasifoglu A; Department of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Kandemir N; Department of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Utine GE; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Alanay Y; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Department of Pediatric Genetics, Acibadem University Faculty of Medicine, Istanbul, Turkey.
Alikasifoglu M; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Boduroglu K; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2019 Jul; Vol. 179 (7), pp. 1157-1172. Date of Electronic Publication: 2019 Apr 13.
Typ publikacji :
Journal Article
Journal Info :
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
MeSH Terms :
Genetic Association Studies*
Mutation*
Bone Morphogenetic Protein 2/*genetics
Cullin Proteins/*genetics
Cytoskeletal Proteins/*genetics
Dwarfism/*genetics
Muscle Hypotonia/*genetics
Spine/*abnormalities
Adolescent ; Base Sequence ; Bone Morphogenetic Protein 2/deficiency ; Child ; Child, Preschool ; Chromosomes, Human, Pair 20 ; Cohort Studies ; Cullin Proteins/metabolism ; Cytoskeletal Proteins/metabolism ; Dwarfism/diagnosis ; Dwarfism/metabolism ; Dwarfism/pathology ; Female ; Fetus ; Gene Expression ; Genotype ; Humans ; Infant ; Infant, Newborn ; Male ; Muscle Hypotonia/diagnosis ; Muscle Hypotonia/metabolism ; Muscle Hypotonia/pathology ; Phenotype ; Spine/metabolism ; Spine/pathology ; Whole Exome Sequencing
SCR Disease Name :
Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Czasopismo naukowe

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