Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects

Autor: Gerarda Cappuccio, Nicola Brunetti‐Pierri, Paul Clift, Christopher Learn, John C. Dykes, Catherine L. Mercer, Bert Callewaert, Ilse Meerschaut, Alessandro Mauro Spinelli, Irene Bruno, Matthew J. Gillespie, Aaron T. Dorfman, Adda Grimberg, Mark E. Lindsay, Angela E. Lin

Publikováno v: American Journal of Medical Genetics Part A. 188:1384-1395

Tetralogy of Fallot (ToF) can be associated with a wide range of extracardiac anomalies, with an underlying etiology identified in approximately 10% of cases. Individuals affected with Myhre syndrome due to recurrent SMAD4 mutations frequently have c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6690b26324a68917294846fa7af0d169
https://doi.org/10.1002/ajmg.a.62645

Further molecular and clinical delineation of the Wisconsin syndrome phenotype associated with interstitial 3q24q25 deletions

Autor: Helen Eisenhauer, Tjitske Kleefstra, Marjolein H. Willemsen, Annemarie Ferwerda, Hanneke Rensen, Morag N. Collinson, John C. K. Barber, Ivan F M Lo, Stephen T.S. Lam, Nicole de Leeuw, Joanne Morris, Catherine L. Mercer, Ben C.J. Hamel

Publikováno v: American Journal of Medical Genetics Part A. 155:106-112

Deletions of the distal 3q22.3 region encompassing the gene forkhead transcription factor FOXL2 (FOXL2) usually result in intellectual disability (ID) and the highly recognizable blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). We encount

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef7bc788495f190b8b2174222a90b100
https://doi.org/10.1002/ajmg.a.33715

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans

Autor: Kerry Setchfield, Sebastian S. Gerety, Catherine Cosgrove, Shoumo Bhattacharya, Okan Toka, Hashim Abdul-Khaliq, David I. Wilson, Anne-Karin Arndt, Jamie Bentham, Bernard Thienpont, Ashok K. Manickaraj, Koen Devriendt, G. Jawahar Swaminathan, Seema Mital, Ita O'Kelly, Javier T. Granados-Riveron, Catherine L. Mercer, Anneke Lucassen, Marc-Phillip Hitz, Hans-Heiner Kramer, Jacoba Low, Kirstin Hoff, Sabine Klaassen, Stephan Schubert, Reiner Siebert, Lisa C.A. D'Alessandro, Christine Harnack, Hugh Watkins, David R. FitzPatrick, Marc Gewillig, Saeed Al Turki, Barbara J.M. Mulder, J. David Brook, Sarah J. Lindsay, Jeroen Breckpot, Matthew E. Hurles, Frances A. Bu'Lock, Anthony P. Salmon, Chris Thornborough

Publikováno v: American journal of human genetics, 94(4), 574-585. Cell Press
Al Turki, S, Manickaraj, A K, Mercer, C L, Gerety, S S, Hitz, M-P, Lindsay, S, D'Alessandro, L C A, Swaminathan, G J, Bentham, J, Arndt, A-K, Low, J, Breckpot, J, Gewillig, M, Thienpont, B, Abdul-Khaliq, H, Harnack, C, Hoff, K, Kramer, H-H, Schubert, S, Siebert, R, Toka, O, Cosgrove, C, Watkins, H, Lucassen, A M, O'Kelly, I M, Salmon, A P, Bu'lock, F A, Granados-Riveron, J, Setchfield, K, Thornborough, C, Brook, J D, Mulder, B, Klaassen, S, Bhattacharya, S, Devriendt, K, Fitzpatrick, D F, Wilson, D I & Mital, S & Hurles, M E 2014, ' Rare variants in NR2F2 cause congenital heart defects in humans ', American Journal of Human Genetics, vol. 94, no. 4, pp. 574-85 . https://doi.org/10.1016/j.ajhg.2014.03.007

Congenital heart defects (CHDs) are the most common birth defect worldwide and are a leading cause of neonatal mortality. Nonsyndromic atrioventricular septal defects (AVSDs) are an important subtype of CHDs for which the genetic architecture is poor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f68ebb9b73fe8f3ab3127980aa9d22f