KohlschutterTonz Syndrome

Autor: John Hardy, Heather C Mefford, Eleanna Kara, Corina Hennig, Arianna Tucci, Silvia Palmeri, Thomas Bast, Katharina Wimmer, Katherine A. Fawcett, Coro Paisán-Ruiz, Evan E. Eichler, Anna Schossig, Sebastiano Musumeci, Henry Houlden, Johannes Zschocke, Roel Hordijk, Andrew B. Singleton, Matthew Moore, Dian Donnai, Simon Shorvon, Alessandro Malandrini, Vincent Plagnol, Michael B. Tennison, Nicole I. Wolf, Salmo Raskin, Andreas Tzschach, Dena G. Hernandez, Roger K. Hall, Raoul C.M. Hennekam, Ian P Hayes, Chien Ning Lo

Publikováno v: Human mutation, 34(2), 296-300. Wiley-Liss Inc.
Tucci, A, Kara, E, Schossig, A, Wolf, N I, Plagnol, V, Fawcett, K, Paisan-Ruiz, C, Moore, M, Hernandez, D, Musumeci, S, Tennison, M, Hennekam, R, Palmeri, S, Malandrini, A, Raskin, S, Donnai, D, Hennig, C, Tzschach, A, Hordijk, R, Bast, T, Wimmer, K, Lo, C N, Shorvon, S, Mefford, H, Eichler, E E, Hall, R, Hayes, I, Hardy, J, Singleton, A, Zschocke, J & Houlden, H 2013, ' KohlschutterTonz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity ', Human Mutation, vol. 34, no. 2, pp. 296-300 . https://doi.org/10.1002/humu.22241
Human Mutation, 34(2), 296-300. Wiley
Human Mutation, 34(2), 296-300. Wiley-Liss Inc.

Kohlschutter-Tonz syndrome (KTS) is a rare autosomal recessive disorder characterized by amelogenesis imperfecta, psychomotor delay or regression and seizures starting early in childhood. KTS was established as a distinct clinical entity after the fi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9bc29aa658c79a17aa25d19b45ced2b
https://doi.org/10.1002/humu.22241

A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome)

Autor: M. de Raad, Renee C. Niessen, Roel Hordijk, Patrick Rump, Oebele F. Brouwer, K. T. Verbruggen

Publikováno v: Clinical Genetics, 79(2), 183-188. Wiley

Opitz-Kaveggia syndrome is a rare X-linked multiple congenital anomalies and intellectual disability disorder caused by the recurrent p.R961W mutation in the MED12 gene. Twenty-three affected males from 10 families with this mutation in the MED12 gen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e79bdac41f54eca5ea12742872c3e90
https://hdl.handle.net/11370/44458fa2-9792-499e-a07d-ac43bd69c3a7

Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome

Autor: Aho Ilgun, Phil Barnett, Antoon F.M. Moorman, Ingrid M.B.H. van de Laar, Hermine E. Veenstra-Knol, Cornelis J. Boogerd, Roel Hordijk, Patrick Rump, Alex V. Postma, Dennis Dooijes, Inge B. Mathijssen

Publikováno v: Cardiovascular Research, 88(1), 130-139. Oxford University Press
Cardiovascular research, 88(1), 130-139. Oxford University Press

Aims Holt–Oram syndrome (HOS) is a heart/hand syndrome clinically characterized by upper limb and cardiac malformations. Mutations in T-box transcription factor 5 ( TBX5 ) underlie this syndrome, the majority of which lead to premature stops. In th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::247526dbf45a3ca8e950153b500abc99
https://research.rug.nl/en/publications/99e6fd9a-0e32-4c98-ab19-26eb1258285a

Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)

Autor: Alina T. Midro, Joris Andrieux, Roel Hordijk, Joris Vermeesch, Klaas Kok, Koenraad Devriendt, B-M Anderlid, Bernard Thienpont, Jacqueline Schoumans, G Van Buggenhout, J-P Fryns, F. Hannes, Damien Sanlaville, N. M. C. Maas

Publikováno v: JOURNAL OF MEDICAL GENETICS, 45(2), 71-80. BMJ PUBLISHING GROUP

BACKGROUND: The Wolf-Hirschhorn syndrome (WHS) is usually caused by terminal deletions of the short arm of chromosome 4 and is phenotypically defined by growth and mental retardation, seizures, and specific craniofacial manifestations. Large variatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57096a484f2cc4e77eec64aee0a12cfa
https://doi.org/10.1136/jmg.2007.052910

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy

Autor: Vera M. Kalscheuer, Roel Hordijk, Astrid R. Oudakker, Sander B. Nabuurs, B. B. A. De Vries, Annemieke Aartsma-Rus, Tjitske Kleefstra, T. van Essen, J.T. den Dunnen, Jamel Chelly, Krysta Voesenek, Ben C.J. Hamel, Ingrid E.C. Verhaart, Helger G. Yntema, Wei Chen, J.M. Hordijk-Hos, H Van Bokhoven, Hao Hu, A.P.M. de Brouwer

Publikováno v: European Journal of Human Genetics, 22, 4, pp. 480-5
European Journal of Human Genetics, 22(4), 480-485
European Journal of Human Genetics, 22, 480-5
European journal of human genetics
European Journal of Human Genetics, 22(4), 480-485. Nature Publishing Group

Item does not contain fulltext We have identified a deletion of 3 base pairs in the dystrophin gene (DMD), c.9711_9713del, in a family with nonspecific X-linked intellectual disability (ID) by sequencing of the exons of 86 known X-linked ID genes. Th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aceb32ea4b1d8fea2f2e7189049198f3
https://doi.org/10.1038/ejhg.2013.169