Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008

Autor: P. F. Ippel, J. A. Maat-Kievit, J.P.M. Geraedts, Emilia K. Bijlsma, Cora M. Aalfs, M. C. van Rij, Monique Losekoot, Corien C. Verschuuren-Bemelmans, Mariet W. Elting, R A C Roos, Sascha Vermeer, M. J. van Belzen, Aad Tibben, R. D. M. Belfroid, P. A. M. de Koning Gans, C. E. M. De Die-Smulders

Publikováno v: Clinical Genetics. 85:78-86

This study aims to give an overview of the number of prenatal tests for Huntington's disease (HD), test results, and pregnancy outcomes in the Netherlands between 1998 and 2008 and to compare them with available data from the period 1987 to 1997. A t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f8ff6e5d016faaa9d3971fe82d792f30
https://doi.org/10.1111/cge.12090

Diagnosis and management of early- and late-onset cerebellar ataxia

Autor: J. A. Maat-Kievit, Esther Brusse, J. C. van Swieten

Publikováno v: Clinical Genetics. 71:12-24

Cerebellar ataxias represent a heterogeneous group of neurodegenerative disorders. Two main categories are distinguished: hereditary and sporadic ataxias. Sporadic ataxias may be symptomatic or idiopathic. The clinical classification of hereditary at

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53b3bcc491b0657b25cda3db90c84a45
https://doi.org/10.1111/j.1399-0004.2006.00722.x

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

Autor: Joy Yaplito-Lee, Charles E. Schwartz, S Waltz, Katrin Õunap, S Mercimek-Mahmutoglu, Marie-Cécile Nassogne, Luísa Diogo, Hitoshi Osaka, Stephanie Grunewald, Carla Valongo, A Schulze, Marc D'Hooghe, A. Errami, I Poggenburg, Nicola K. Poplawski, F Hofstede, Hanne Meijers-Heijboer, C. Jakobs, Yves Sznajer, Angela Arias, Bridget Wilcken, H Azzouz, Suzanna G.M. Frints, A.P.M. de Brouwer, Gajja S. Salomons, M.S. van der Knaap, Diana Johnson, Tjitske Kleefstra, Antonia Ribes, M. A. Vilaseca, S Schwenger, JM Pinard, Grazia M.S. Mancini, Irina Anselm, S von der Haar, Sarina G. Kant, J.M. van de Kamp, J P Monteiro, Nicola Longo, G Soares, Vassili Valayannopoulos, Petra J. W. Pouwels, Drago Bratkovic, H Van Esch, L Abulhoul, David Cheillan, M Fonseca, Helger G. Yntema, Ofir T. Betsalel, J A Maat-Kievit, S Quijano-Roy, L. Lion-François, Jaime Campistol, Gaelle Pitelet, Paula Garcia, M M C Wamelink, Ania C. Muntau, Ben C.J. Hamel, Arnold Munnich, Omar A. Abdul-Rahman

Publikováno v: van de Kamp, J M, Betsalel, O T, Mercimek-Mahmutoglu, S, Abulhoul, L, Grunewald, S, Anselm, I, Azzouz, H, Bratkovic, D, de Brouwer, A, Hamel, B, Kleefstra, T, Yntema, H, Campistol, J, Vilaseca, M A, Cheillan, D, D'Hooghe, M, Diogo, L, Garcia, P, Valongo, C, Fonseca, M, Frints, S, Wilcken, B, Haar, S, Meijers-Heijboer, H E, Hofstede, F, Johnson, D, Kant, S G, Lion-Francois, L, Pitelet, G, Longo, N, Maat-Kievit, J A, Monteiro, J P, Munnich, A, Muntau, A C, Nassogne, M C, Osaka, H, Ounap, K, Pinard, J M, Quijano-Roy, S, Poggenburg, I, Poplawski, N, Abdul-Rahman, O A, Ribes, A, Arias, A, Yaplito-Lee, J, Schulze, A, Schwartz, C E, Schwenger, S, Soares, G, Sznajer, Y, Valayannopoulos, V, Van Esch, H, Waltz, S, Wamelink, M M C, Pouwels, P J W, Errami, A, van der Knaap, M S, Jakobs, C A J M, Mancini, G M & Salomons, G S 2013, ' Phenotype and genotype in 101 males with X-linked creatine transporter deficiency ', Journal of Medical Genetics, vol. 50, no. 7, pp. 463-472 . https://doi.org/10.1136/jmedgenet-2013-101658
Journal of Medical Genetics, 50(7), 463-472. BMJ Publishing Group
Journal of Medical Genetics, 50, 7, pp. 463-72
Journal of Medical Genetics, 50(7), 463-472
Journal of medical genetics, 50(7), 463-472. BMJ Publishing Group
Journal of Medical Genetics, 50, 463-72

Item does not contain fulltext BACKGROUND: Creatine transporter deficiency is a monogenic cause of X-linked intellectual disability. Since its first description in 2001 several case reports have been published but an overview of phenotype, genotype a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71463aa9e2781cbf58299186b4ea36f2
https://hdl.handle.net/1887/101696

Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations

Autor: Vincenzo Bonifati, Sylvia A. Eshuis, Klaus L. Leenders, Cristina Tassorelli, Jan Pieter M. Stroy, Wilson F. Abdo, Klaartje Van Engelen, Leonardo Lopiano, Saskia A. J. Lesnik-Oberstein, Peter Elfferich, Agnita J.W. Boon, Jan C.M. Zijlmans, J. Anneke Maat-Kievit, Bart P.C. van de Warrenburg, Dennis Dooijes, Rick van Minkelen, M.C.T. Verleun-Mooijman, Ad Hovestadt, John C. van Swieten, Corien C. Verschuuren-Bemelmans

Publikováno v: Neurogenetics, 12, 263-71
Neurogenetics, 12(4), 263-271. Springer-Verlag
Neurogenetics, 12, 4, pp. 263-71
neurogenetics, 12(4), 263-271
Neurogenetics, 12(4), 263-271. SPRINGER
Neurogenetics, 12(4), 263-271. Springer Verlag
Neurogenetics
Elfferich, P, Verleun-Mooijman, M C, Maat-Kievit, J A, Van De Warrenburg, B P C, Abdo, W F, Eshuis, S A, Leenders, K L, Hovestadt, A, Zijlmans, J C M, Stroy, J P M, Van Swieten, J C, Boon, A J W, Van Engelen, K, Verschuuren-Bemelmans, C C, Lesnik-Oberstein, S A J, Tassorelli, C, Lopiano, L, Bonifati, V, Dooijes, D & Van Minkelen, R 2011, ' Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations ', Neurogenetics, vol. 12, no. 4, pp. 263-271 . https://doi.org/10.1007/s10048-011-0302-9

Item does not contain fulltext Early-onset Parkinson's disease (EOPD) has been associated with recessive mutations in parkin (PARK2). About half of the mutations found in parkin are genomic rearrangements, i.e., large deletions or duplications. Altho

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87fec50ad5716d5c60771bbe70ac747e
http://hdl.handle.net/2066/97688

[From gene to disease; HD gene and Huntington disease]

Autor: J A, Maat-Kievit, M, Losekoot, R A, Roos

Publikováno v: Nederlands tijdschrift voor geneeskunde. 145(44)

Huntington's disease (HD) is a late onset, incurable, autosomal dominantly-inherited, progressive neuropsychiatric disease, characterised by chorea, changes in personality, mood and behaviour, and dementia. Huntington's disease is a clinical diagnosi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f39eecf7e9ce28affca954d22f59efec
https://pubmed.ncbi.nlm.nih.gov/11723754