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Quoted phrase not found in phrase index: "Rubinstein-Taybi syndrome due to 16p13.3 microdeletion"
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Molecular insight into CREBBP and TANGO2 variants causing intellectual disability.
Hussain SI, Muhammad N, Khan N, Khan M, Fardous F, Tahir R, Yasin M, Khan SA, Saleha S, Muhammad N, Wasif N, Khan S. Hussain SI, et al. J Gene Med. 2024 Jan;26(1):e3591. doi: 10.1002/jgm.3591. Epub 2023 Sep 18. J Gene Med. 2024. PMID: 37721116
BACKGROUND: Intellectual disability (ID) can be associated with different syndromes such as Rubinstein-Taybi syndrome (RSTS) and can also be related to conditions such as metabolic encephalomyopathic crises, recurrent,with rhabdomyolysis, cardiac arrhythmias …
BACKGROUND: Intellectual disability (ID) can be associated with different syndromes such as Rubinstein-Taybi syndrome ( …
Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome.
Bartsch O, Rasi S, Delicado A, Dyack S, Neumann LM, Seemanová E, Volleth M, Haaf T, Kalscheuer VM. Bartsch O, et al. Hum Genet. 2006 Sep;120(2):179-86. doi: 10.1007/s00439-006-0215-0. Epub 2006 Jun 17. Hum Genet. 2006. PMID: 16783566
Rubinstein-Taybi syndrome (RSTS) is a well-known autosomal dominant mental retardation syndrome with typical facial and skeletal abnormalities. ...Recently we identified a third patient with this condition, termed here severe RSTS, or chromosome 16p …
Rubinstein-Taybi syndrome (RSTS) is a well-known autosomal dominant mental retardation syndrome with typical fac …
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.
Bentivegna A, Milani D, Gervasini C, Castronovo P, Mottadelli F, Manzini S, Colapietro P, Giordano L, Atzeri F, Divizia MT, Uzielli ML, Neri G, Bedeschi MF, Faravelli F, Selicorni A, Larizza L. Bentivegna A, et al. BMC Med Genet. 2006 Oct 19;7:77. doi: 10.1186/1471-2350-7-77. BMC Med Genet. 2006. PMID: 17052327 Free PMC article.
BACKGROUND: Rubinstein-Taybi Syndrome (RSTS, MIM 180849) is a rare congenital disorder characterized by mental and growth retardation, broad and duplicated distal phalanges of thumbs and halluces, facial dysmorphisms and increased risk of tumors. RSTS is caus …
BACKGROUND: Rubinstein-Taybi Syndrome (RSTS, MIM 180849) is a rare congenital disorder characterized by mental and grow …
Copy number variants are frequent in genetic generalized epilepsy with intellectual disability.
Mullen SA, Carvill GL, Bellows S, Bayly MA, Trucks H, Lal D, Sander T, Berkovic SF, Dibbens LM, Scheffer IE, Mefford HC. Mullen SA, et al. Neurology. 2013 Oct 22;81(17):1507-14. doi: 10.1212/WNL.0b013e3182a95829. Epub 2013 Sep 25. Neurology. 2013. PMID: 24068782 Free PMC article. Review.
Three hundred fifty-nine probands with GGE and 60 probands with ID-GGE were screened for GGE-associated recurrent microdeletions at 15q13.3, 15q11.2, and 16p13.11 via quantitative PCR or loss of heterozygosity. ...The patients with ID-GGE had a 3-fold-higher rate of the 3 …
Three hundred fifty-nine probands with GGE and 60 probands with ID-GGE were screened for GGE-associated recurrent microdeletions at 1 …