Results 1 -
10
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22
for
Lynch syndrome 8
- ... and EPCAM deletions are a frequent cause of Lynch syndrome. Genes Chromosomes Cancer. 2009 Aug;48(8):737-44. doi: 10.1002/gcc.20678. Citation ...
- ... on PubMed Klein CJ, Boes CJ, Chapin JE, Lynch CD, Campeau NG, Dyck PJ, Dyck PJ. Adult polyglucosan body disease: case description of an expanding genetic and clinical syndrome. Muscle Nerve. 2004 Feb;29(2):323-8. doi: 10.1002/mus.10520. Citation on PubMed ...
- ... 26. Citation on PubMed Pierce SB, Chisholm KM, Lynch ED, ... U S A. 2011 Apr 19;108(16):6543-8. doi: 10.1073/pnas.1103471108. Epub 2011 Apr ...
- ... Petersen GM, Giardiello FM, Tinley ST, Aaltonen LA, Lynch HT. The prevalence ... polyposis syndrome. J Mol Diagn. 2006 Feb;8(1):84-8. doi: 10.2353/jmoldx.2006. ...
- ... clinical features and counseling for BRCA1 and BRCA2, Lynch syndrome, Cowden syndrome, and Li-Fraumeni syndrome. Obstet Gynecol ...
- ... cognitive decline and psychosis in 22q11.2 deletion syndrome. Nat Neurosci. 2005 Nov;8(11):1500-2. doi: 10.1038/nn1572. Epub ... COMT polymorphism in children with 22q11.2 deletion syndrome. Clin Genet. 2006 Mar;69(3):234-8. doi: 10.1111/j.1399-0004.2006.00569. ...
- ... R, Prior TW. Mutation screening in juvenile polyposis syndrome. J Mol Diagn. 2006 Feb;8(1):84-8. doi: 10.2353/jmoldx.2006.050072. Citation on PubMed or Free article on PubMed Central ... with juvenile polyposis syndrome and SMAD4 mutations. Am J Med Genet A. ...
- ... gene is located in a region of chromosome 8 that is deleted in people with trichorhinophalangeal syndrome type II (TRPS II). TRPS II is a ... A, Rossier E, Spranger S, Van Maldergem L, Lynch SA, Gillessen-Kaesbach G, ... cohesinopathy. Am J Hum Genet. 2012 Jun 8;90(6):1014-27. doi: 10.1016/j. ...
- ... GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nat Genet. 1997 Mar;15(3):266-8. doi: 10.1038/ng0397-266. Citation on PubMed ...
- ... the same disease spectrum as Cornelia de Lange syndrome (described above). CDA07 CDLS5 HD8 HDACL1 histone deacetylase-like 1 MRXS6 RPD3 WTS Tests of HDAC8 PubMed HISTONE DEACETYLASE 8; HDAC8 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WILSON- ...