The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

Autor: Simón-Sánchez J, Dopper EG, Cohn-Hokke PE, Hukema RK, Nicolaou N, Seelaar H, de Graaf JR, de Koning I, van Schoor NM, Deeg DJ, Smits M, Raaphorst J, van den Berg LH, Schelhaas HJ, De Die-Smulders CE, Majoor-Krakauer D, Rozemuller AJ, Willemsen R, Pijnenburg YA, Heutink P

Publikováno v: Brain: A Journal of Neurology; Mar2012, Vol. 135 Issue 3, p723-735, 13p

A Mutation in the Protein S Pseudogene Is Linked to Protein S Deficiency in a Thrombophilic Family

Autor: Pieter H. Reitsma, K. Hamulyak, Ploos van Amstel Hk, P. M. Mannucci, de Die-Smulders Ce, Rogier M. Bertina

Publikováno v: Thrombosis and Haemostasis. 62:897-901

SummaryProbands from 15 unrelated families with hereditary protein S deficiency type I, that is having a plasma total protein S concentration fifty percent of normal, were screened for abnormalities in their protein S genes by Southern analysis. Two

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6e8fb987c5c6f024d580acd6c61e8f8c
https://doi.org/10.1055/s-0038-1651024

Risk Assessment for Huntington's Disease for (Future) Offspring Requires Offering Preconceptional CAG Analysis to Both Partners.

Autor: Tibben A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Dondorp WJ; Department of Health, Ethics and Society, Maastricht University, Maastricht, The Netherlands., de Wert GM; Department of Health, Ethics and Society, Maastricht University, Maastricht, The Netherlands., de Die-Smulders CE; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Losekoot M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

Publikováno v: Journal of Huntington's disease [J Huntingtons Dis] 2019; Vol. 8 (1), pp. 71-78.

Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands.

Autor: Dommering CJ; Department of Clinical Genetics, VU University Medical Center, PO Box 7057, 1007 MB, Amsterdam, The Netherlands. cj.dommering@vumc.nl., Henneman L; Department of Clinical Genetics, VU University Medical Center, PO Box 7057, 1007 MB, Amsterdam, The Netherlands., van der Hout AH; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Jonker MA; Department of Mathematics, Faculty of Sciences, VU University, Amsterdam, The Netherlands.; Department for Health Evidence, Radboud University Medical Center, Nijmegen, The Netherlands., Tops CM; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., van den Ouweland AM; Department Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., van der Luijt RB; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Mensenkamp AR; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Hogervorst FB; Department of Pathology, The Netherlands Cancer Institute, Amsterdam, The Netherlands., Redeker EJ; Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands., de Die-Smulders CE; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Moll AC; Department of Ophthalmology, VU University Medical Center, Amsterdam, The Netherlands., Meijers-Heijboer H; Department of Clinical Genetics, VU University Medical Center, PO Box 7057, 1007 MB, Amsterdam, The Netherlands.

Publikováno v: Familial cancer [Fam Cancer] 2017 Apr; Vol. 16 (2), pp. 271-277.

PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy.

Autor: Sallevelt SC; Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands., Dreesen JC; Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.; Research School for Developmental Biology (GROW), Maastricht University, P.O. Box 616, 6200 MD Maastricht, The Netherlands., Drüsedau M; Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands., Hellebrekers DM; Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands., Paulussen AD; Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.; Research School for Developmental Biology (GROW), Maastricht University, P.O. Box 616, 6200 MD Maastricht, The Netherlands., Coonen E; Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.; Department of Obstetrics and Gynecology, Maastricht University Medical Center+ (MUMC+), P.O. Box 5800, 6202 AZ Maastricht, The Netherlands., van Golde RJ; Department of Obstetrics and Gynecology, Maastricht University Medical Center+ (MUMC+), P.O. Box 5800, 6202 AZ Maastricht, The Netherlands., Geraedts JP; Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands., Gianaroli L; Reproductive Medicine Unit, Società Italiana Studi di Medicina della Riproduzione (S.I.S.Me.R.), Via Mazzini 12, 40138 Bologna, Italy., Magli MC; Reproductive Medicine Unit, Società Italiana Studi di Medicina della Riproduzione (S.I.S.Me.R.), Via Mazzini 12, 40138 Bologna, Italy., Zeviani M; Mitochondrial Biology Unit, Wellcome Trust Medical Research Council (MRC), Cambridge Biomedical Campus Hill Road, Cambridge CB2 0XY, UK.; Unit of Molecular Neurogenetics, Istituto Neurologico 'Carlo Besta', Via Giovanni Celoria 11, 20133 Milan, Italy., Smeets HJ; Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.; Research School for Developmental Biology (GROW), Maastricht University, P.O. Box 616, 6200 MD Maastricht, The Netherlands., de Die-Smulders CE; Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.; Research School for Developmental Biology (GROW), Maastricht University, P.O. Box 616, 6200 MD Maastricht, The Netherlands.

Publikováno v: Human reproduction (Oxford, England) [Hum Reprod] 2017 Mar 01; Vol. 32 (3), pp. 698-703.