Additional file 3 of DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome

Autor: L. C. Schenkel, E. Aref-Eshghi, K. Rooney, J. Kerkhof, M. A. Levy, H. McConkey, R. C. Rogers, K. Phelan, S. M. Sarasua, L. Jain, R. Pauly, L. Boccuto, B. DuPont, G. Cappuccio, N. Brunetti-Pierri, C. E. Schwartz, Sadikovic, B.

Additional file 3: Figure S1. Leave-2-out cross-validation using PHMDS large deletion samples. For each round of validation, nine of the eleven PHMDS large deletion samples were used for probe selection along with matched controls and the remaining t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dcd105bb5520740a6596430f9c791a9

Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate

Autor: Claude Moraine, Frédéric Laumonnier, C. E. Schwartz, Cyril Goizet, Jamel Chelly, F. Phan-Dinh Tuy, Didier Lacombe, James Lespinasse, F. Faravelli, J.H.L.M. van Bokhoven, Sébastien Holbert, H Van Esch, Steffen Lenzner, Sylvain Briault, Nathalie Ronce, B.C.J. Hamel, H.H. Ropers, J. P. Fryns

Publikováno v: JOURNAL OF MEDICAL GENETICS, 42(10), 780-786. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 42, 10, pp. 780-6
Journal of Medical Genetics, 42, 780-6

Contains fulltext : 48887.pdf (Publisher’s version ) (Closed access) Truncating mutations were found in the PHF8 gene (encoding the PHD finger protein 8) in two unrelated families with X linked mental retardation (XLMR) associated with cleft lip/pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13b4dfda73764204ee114579a45bdf6b
https://hdl.handle.net/2066/48887

The RBMX gene as a candidate for the Shashi X-linked intellectual disability syndrome

Autor: V, Shashi, P, Xie, K, Schoch, D B, Goldstein, T D, Howard, M N, Berry, C E, Schwartz, K, Cronin, S, Sliwa, A, Allen, A C, Need

Publikováno v: Clinical genetics. 88(4)

A novel X-linked intellectual disability (XLID) syndrome with moderate intellectual disability and distinguishing craniofacial dysmorphisms had been previously mapped to the Xq26-q27 interval. On whole exome sequencing in the large family originally

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ac21822225e6c1e6de17ea971afded37
https://pubmed.ncbi.nlm.nih.gov/25256757

X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27

Autor: P. L. Van Rensburg, A. L. Christianson, F. W. Theron, C. E. Schwartz, J. Pelser, C. H. Van Der Meyden, R. E. Stevenson, M. Chandler

Publikováno v: Journal of Medical Genetics. 36:759-766

To date over 150 X linked mental retardation (XLMR) conditions have been documented. We describe a five generation South African family with XLMR, comprising 16 affected males and 10 carrier females. The clinical features common to the 16 males inclu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e34b8ad8e7a5666ab991dfe509a5e8b
https://doi.org/10.1136/jmg.36.10.759

Short-term memory deficits in carrier females with KDM5C mutations

Autor: R J, Simensen, R C, Rogers, J S, Collins, F, Abidi, C E, Schwartz, R E, Stevenson

Publikováno v: Genetic counseling (Geneva, Switzerland). 23(1)

We present the cognitive abilities of females from five families who carry a mutation in a gene (KDM5C, formerly JARIDIC or SMCX) in Xp 11.2 that encodes a transcriptional regulator with histone demethylase activity that is specific for dimethylated

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e596803a13d726ae976e47f198f36220
https://pubmed.ncbi.nlm.nih.gov/22611640