المؤلفون: van der Sluijs Veer L, Kempers MJ, Wiedijk BM, Last BF, Grootenhuis MA, Vulsma T

المصدر: Journal of Developmental & Behavioral Pediatrics; 2012 Oct, Vol. 33 Issue 8, p633-640, 8p

المؤلفون: Kempers, MJ, Otten, BJ

المصدر: European Journal of Endocrinology; November 2002, Vol. 147 Issue: 5 p609-616, 8p

المؤلفون: Schoenmakers, N, Sun, Y, Bak, B, van Trotsenburg, ASP, Oostdijk, W, Voshol, P, Cambridge, E, White, JK, le Tissier, P, Gharavy, SNM, Martinez-Barbera, JP, Stokvis-Brantsma, WH, Vulsma, T, Kempers, MJ, Persani, L, Campi, I, Bonomi, M, Beck-Peccoz, P, Zhu, H, Davis, TME, Hokken-Koelega, ACS, Del Blanco, D Gorbenko, Rangasami, JJ, Ruivenkamp, CAL, Laros, JFJ, Kriek, M, Kant, SG, Bosch, CAJ, Biermasz, NR, Appelman-Dijkstra, NM, Corssmit, EP, Hovens, GCJ, Pereira, AM, den Dunnen, JT, Wade, MG, Breuning, MH, Hennekam, RC, Dattani, MT, Wit, JM, Bernard, DJ, Chatterjee, K

المصدر: The Lancet; February 2013, Vol. 381 Issue: 6 pS15-S15, 1p

المؤلفون: Kempers MJ; Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address: marlies.kempers@radboudumc.nl., Wessels M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands., Van Berendoncks A; Department of Cardiology, Antwerp University Hospital/University of Antwerp, Antwerp, Belgium., van de Laar IM; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands., de Leeuw N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Loeys B; Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Center for Medical Genetics, Antwerp University Hospital/University of Antwerp, Antwerp, Belgium.

المصدر: European journal of medical genetics [Eur J Med Genet] 2022 Oct; Vol. 65 (10), pp. 104593. Date of Electronic Publication: 2022 Aug 11.

نوع المنشور: Journal Article

بيانات الدورية: 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

مواضيع طبية MeSH: Clubfoot* , Ehlers-Danlos Syndrome*/genetics , Skin Abnormalities*/genetics, Collagen Type III/genetics ; Female ; Humans ; Mutation ; Phenotype ; Pregnancy

المؤلفون: van de Laar IMBH; Department of Clinical Genetics and Cardiology and VASCERN MSA European Reference Centre, Erasmus MC, University Medical Center Rotterdam, Wytemaweg 80, P.O. Box 2040, 3000 CA, Rotterdam, the Netherlands. Electronic address: i.vandelaar@erasmusmc.nl., Baas AF; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., De Backer J; Department of Cardiology and Center for Medical Genetics Ghent and VASCERN MSA European Reference Centre, Ghent University Hospital, Ghent, Belgium., Blankenstein JD; Department of Vascular Surgery, Amsterdam University Medical Centres (Amsterdam UMC) Location VU Medical Centre (VUMC), Amsterdam, the Netherlands., Dulfer E; Department of Genetics, University Medical Center Groningen, Groningen, the Netherlands., Helderman-van den Enden ATJM; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Houweling AC; Department of Human Genetics, Amsterdam University Medical Centres (Amsterdam UMC) Location VU Medical Centre (VUMC), Amsterdam, the Netherlands., Kempers MJ; Department of Clinical Genetics and VASCERN MSA European Reference Centre, Radboud University Medical Center, Nijmegen, Netherlands., Loeys B; Center of Medical Genetics and VASCERN MSA European Reference Centre, University Hospital of Antwerp University of Antwerp, Antwerp, Belgium., Malfait F; Department of Cardiology and Center for Medical Genetics Ghent and VASCERN MSA European Reference Centre, Ghent University Hospital, Ghent, Belgium., Robert L; South East Thames Regional Genetics Service, Guy's Hospital, London, UK., Tanteles G; Clinical Genetics Clinic, Cyprus Institute of Neurology & Genetics, 1683, Nicosia, Republic of Cyprus., Frank M; AP-HP, Hôpital Européen Georges Pompidou, Département de Génétique, Centre de Référence des Maladies Vasculaires Rares and VASCERN MSA European Reference Centre, Paris, France; INSERM, U 970, Paris Centre de Recherche Cardiovasculaire-PARCC, Paris, France.

المصدر: European journal of medical genetics [Eur J Med Genet] 2022 Sep; Vol. 65 (9), pp. 104557. Date of Electronic Publication: 2022 Jun 30.

نوع المنشور: Journal Article

بيانات الدورية: 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

مواضيع طبية MeSH: Ehlers-Danlos Syndrome*/diagnosis , Ehlers-Danlos Syndrome*/genetics , Ehlers-Danlos Syndrome*/pathology, Adult ; Child ; Collagen Type III/genetics ; Europe/epidemiology ; Humans ; Prospective Studies ; Rare Diseases/genetics

المؤلفون: Tucci V, Kleefstra T, Hardy A, Heise I, Maggi S, Willemsen MH, Hilton H, Esapa C, Simon M, Buenavista MT, McGuffin LJ, Vizor L, Dodero L, Tsaftaris S, Romero R, Nillesen WN, Vissers LE, Kempers MJ, Vulto-van Silfhout AT, Iqbal Z, Orlando M, Maccione A, Lassi G, Farisello P, Contestabile A, Tinarelli F, Nieus T, Raimondi A, Greco B, Cantatore D, Gasparini L, Berdondini L, Bifone A, Gozzi A, Wells S, Nolan PM

المصدر: The Journal of clinical investigation [J Clin Invest] 2014 Apr; Vol. 124 (4), pp. 1468-82. Date of Electronic Publication: 2014 Mar 10.

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

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Craniofacial Abnormalities/*genetics , Intellectual Disability/*genetics , beta Catenin/*genetics, Adolescent ; Adult ; Amino Acid Sequence ; Amino Acid Substitution ; Animals ; Base Sequence ; Brain/pathology ; Cadherins/chemistry ; Child, Preschool ; Craniofacial Abnormalities/pathology ; DNA/genetics ; Disease Models, Animal ; Female ; Genes, Dominant ; Humans ; Male ; Mice ; Mice, Inbred C3H ; Mice, Inbred C57BL ; Mice, Mutant Strains ; Middle Aged ; Models, Molecular ; Molecular Sequence Data ; Multiprotein Complexes/chemistry ; Multiprotein Complexes/genetics ; Phenotype ; Sequence Homology, Amino Acid ; Syndrome ; Young Adult ; beta Catenin/chemistry ; beta Catenin/metabolism

المؤلفون: Monteferrario D; From the Department of Laboratory Medicine, Laboratory of Hematology, Radboud University Medical Center, Nijmegen Center for Molecular Life Sciences (D.M., A.E.M., S.M.B., H.V., G.H., F.P., W.V.H., J.H.J., B.A.V.R.) and the Departments of Pathology (K.M.H., B.W.), Hematology (B.A.P.L.G., M.A.M., G.H.), Cardiology (A.L.D.), and Human Genetics (S.S., M.J.E.K.), Radboud University Medical Center - all in Nijmegen, the Netherlands; the Department of Medical Genetics, Antwerp University Hospital and University of Antwerp (N.A.B., E.F., G.V.C., B.L.L., L.V.L.) and the Statua Center for Statistics, University of Antwerp (E.F.), Antwerp, Belgium; and the Department of Hematology, University Hospital, Essen, Germany (C.K., L.B.)., Bolar NA, Marneth AE, Hebeda KM, Bergevoet SM, Veenstra H, Laros-van Gorkom BA, MacKenzie MA, Khandanpour C, Botezatu L, Fransen E, Van Camp G, Duijnhouwer AL, Salemink S, Willemsen B, Huls G, Preijers F, Van Heerde W, Jansen JH, Kempers MJ, Loeys BL, Van Laer L, Van der Reijden BA

المصدر: The New England journal of medicine [N Engl J Med] 2014 Jan 16; Vol. 370 (3), pp. 245-53. Date of Electronic Publication: 2013 Dec 10.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1533-4406 (Electronic) Linking ISSN: 00284793 NLM ISO Abbreviation: N Engl J Med Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Blood Platelets/*pathology , Gray Platelet Syndrome/*genetics , Megakaryocytes/*pathology , Proto-Oncogene Proteins/*genetics , Repressor Proteins/*genetics, Bone Marrow/pathology ; Female ; Genes, Dominant ; Gray Platelet Syndrome/pathology ; Humans ; Male ; Pedigree ; Stem Cells ; Thrombocytopenia/genetics

عنوان ترانسليتريتد: Neonatale screening op congenitale hypothyreoïdie: ruim 30 jaar ervaring in Nederland.

المؤلفون: Verkerk PH; TNO, Child Health Department, Leiden., van Trotsenburg AS, Hoorweg-Nijman JJ, Oostdijk W, van Tijn DA, Kempers MJ, van den Akker EL, Loeber JG, Elvers LH, Vulsma T

المصدر: Nederlands tijdschrift voor geneeskunde [Ned Tijdschr Geneeskd] 2014; Vol. 158, pp. A6564.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Vereniging NTvG Country of Publication: Netherlands NLM ID: 0400770 Publication Model: Print Cited Medium: Internet ISSN: 1876-8784 (Electronic) Linking ISSN: 00282162 NLM ISO Abbreviation: Ned Tijdschr Geneeskd Subsets: MEDLINE

مواضيع طبية MeSH: Congenital Hypothyroidism/*diagnosis , Neonatal Screening/*methods, Congenital Hypothyroidism/blood ; Female ; Humans ; Infant, Newborn ; Male ; Neonatal Screening/standards ; Netherlands/epidemiology ; Prevalence ; Sensitivity and Specificity ; Thyrotropin/blood ; Thyroxine/blood ; Thyroxine-Binding Proteins/analysis

المؤلفون: Kempers MJ; Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands., van der Crabben SN, de Vroede M, Alfen-van der Velden J, Netea-Maier RT, Duim RA, Otten BJ, Losekoot M, Wit JM

المصدر: Hormone research in paediatrics [Horm Res Paediatr] 2013; Vol. 80 (6), pp. 390-6. Date of Electronic Publication: 2013 Nov 23.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Karger Country of Publication: Switzerland NLM ID: 101525157 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1663-2826 (Electronic) Linking ISSN: 16632818 NLM ISO Abbreviation: Horm Res Paediatr Subsets: MEDLINE

مواضيع طبية MeSH: Dwarfism, Pituitary/*diagnosis , Dwarfism, Pituitary/*genetics , Human Growth Hormone/*genetics , RNA Splice Sites/*genetics, Adult ; Child, Preschool ; Delayed Diagnosis ; Female ; Genetic Testing ; Humans ; Infant ; Male ; Mutation ; Pedigree

SCR Disease Name: Isolated Growth Hormone Deficiency, Type II

المؤلفون: Sun Y; Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Bak B, Schoenmakers N, van Trotsenburg AS, Oostdijk W, Voshol P, Cambridge E, White JK, le Tissier P, Gharavy SN, Martinez-Barbera JP, Stokvis-Brantsma WH, Vulsma T, Kempers MJ, Persani L, Campi I, Bonomi M, Beck-Peccoz P, Zhu H, Davis TM, Hokken-Koelega AC, Del Blanco DG, Rangasami JJ, Ruivenkamp CA, Laros JF, Kriek M, Kant SG, Bosch CA, Biermasz NR, Appelman-Dijkstra NM, Corssmit EP, Hovens GC, Pereira AM, den Dunnen JT, Wade MG, Breuning MH, Hennekam RC, Chatterjee K, Dattani MT, Wit JM, Bernard DJ

المصدر: Nature genetics [Nat Genet] 2012 Dec; Vol. 44 (12), pp. 1375-81. Date of Electronic Publication: 2012 Nov 11.

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

بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Congenital Hypothyroidism/*genetics , Genetic Diseases, X-Linked/*genetics , Immunoglobulins/*genetics , Membrane Proteins/*genetics , Testicular Diseases/*genetics, Adolescent ; Adult ; Aged ; Animals ; Base Sequence ; Child ; Child, Preschool ; Exome ; Ferrous Compounds ; Humans ; Infant ; Male ; Metallocenes ; Mice ; Middle Aged ; Pituitary Gland/metabolism ; Pituitary Gland/pathology ; Prolactin/blood ; Receptors, Thyrotropin-Releasing Hormone/biosynthesis ; Sequence Analysis, DNA ; Syndrome ; Testis/anatomy & histology ; Testis/pathology ; Thyrotropin/blood ; Triiodothyronine/analysis ; Young Adult