A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype

Autor: Beunders, Gea, van de Kamp, Jiddeke, Vasudevan, Pradeep, Morton, Jenny, Smets, Katrien, Kleefstra, Tjitske, de Munnik, Sonja A., Schuurs-Hoeijmakers, Janneke, Ceulemans, Berten, Zollino, Marcella, Hoffjan, Sabine, Wieczorek, Stefan, So, Joyce, Mercer, Leanne, Walker, Tanya, Velsher, Lea, Parker, Michael J., Magee, Alex C., Elffers, Bart, Frank Kooy, R., Yntema, Helger G., Meijers-Heijboer, Elizabeth J., Sistermans, Erik A., The DDD study, DDD study

Publikováno v: Journal of Medical Genetics, 53, 523-32
Beunders, G, van de Kamp, J, Vasudevan, P, Morton, J, Smets, K, Kleefstra, T, de Munnik, S A, Schuurs-Hoeijmakers, J, Ceulemans, B, Zollino, M, Hoffjan, S, Wieczorek, S, So, J, Mercer, L, Walker, T, Velsher, L, Parker, M J, Magee, A C, Elffers, B, Frank Kooy, R, Yntema, H G, Meijers-Heijboer, E J, Sistermans, E A & The DDD study, DDD S 2016, ' A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype ', Journal of Medical Genetics, vol. 53, no. 8, pp. 523-532 . https://doi.org/10.1136/jmedgenet-2015-103601
Journal of Medical Genetics, 53(8), 523-532. BMJ Publishing Group
Journal of Medical Genetics, 53, 8, pp. 523-32
Journal of medical genetics

Item does not contain fulltext BACKGROUND: AUTS2 syndrome is an 'intellectual disability (ID) syndrome' caused by genomic rearrangements, deletions, intragenic duplications or mutations disrupting AUTS2. So far, 50 patients with AUTS2 syndrome have b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::176c3925e898f5bdaaf4ae185a27f188
http://hdl.handle.net/2066/167695

De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability

Autor: Parker, Michael J, Fryer, Alan E, Shears, Deborah J, Lachlan, Katherine L, McKee, Shane A, Magee, Alex C, Mohammed, Shehla, Vasudevan, Pradeep C, Park, Soo-Mi, Benoit, Valérie, Lederer, Damien, Maystadt, Isabelle, Study, Ddd, FitzPatrick, David R

Publikováno v: Parker, M J, Fryer, A E, Shears, D J, Lachlan, K L, McKee, S A, Magee, A C, Mohammed, S, Vasudevan, P C, Park, S-M, Benoit, V, Lederer, D, Maystadt, I, Study, D & FitzPatrick, D R 2015, ' De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability ', American Journal of Medical Genetics Part A . https://doi.org/10.1002/ajmg.a.37189

De novo mutations (DNM) in SYNGAP1, encoding Ras/Rap GTPase-activating protein SynGAP, have been reported in individuals with nonsyndromic intellectual disability (ID). We identified 10 previously unreported individuals with SYNGAP1 DNM; seven via th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3094::133be76be45a11216fef249b5f72278b
https://hdl.handle.net/20.500.11820/082fef5e-f1fa-4eb0-ae01-db56d39f4215

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De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.

Autor: Parker, Michael J., Fryer, Alan E., Shears, Deborah J., Lachlan, Katherine L., McKee, Shane A., Magee, Alex C., Mohammed, Shehla, Vasudevan, Pradeep C., Park, Soo‐Mi, Benoit, Valérie, Lederer, Damien, Maystadt, Isabelle, study, DDD, FitzPatrick, David R.

Publikováno v: American Journal of Medical Genetics. Part A; Oct2015, Vol. 167A Issue 10, p2231-2237, 7p

Ullrich-Turner syndrome: Seven pregnancies in an apparent 45,X woman

Autor: Magee, Alex C., Nevin, Norman C., Armstrong, Mike J., McGibbon, David, Nevin, Jean

Publikováno v: American Journal of Medical Genetics. Part A; 6 January 1998, Vol. 75 Issue: 1 p1-3, 3p