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Double Y syndrome
- ... karyotype XYY syndrome YY syndrome Genetic Testing Registry: Double Y syndrome 47,XYY syndrome National Organization for Rare Disorders ( ... extra Y chromosome in males with a 47,XYY karyotype. Hum Mol Genet. 1999 Nov;8(12):2205- ...
- ... M, Goransson I, Holinski-Feder E, Muller-Koch Y, Golovleva I, Gronberg H. ... a screening tool in Muir-Torre syndrome. Mod Pathol. 2008 Feb;21(2):159-64. ...
- ... Varon R, Demuth I, Chrzanowska KH. Nijmegen Breakage Syndrome. 1999 May 17 ... of NBS1 in DNA double strand break repair, telomere stability, and cell cycle ...
- ... V, Legeai-Mallet L. Thanatophoric dysplasia caused by double missense FGFR3 ... DK, Correa A, Vo TM, Wang Y, Hobbs C, Langlois PH, Pearson K, Romitti PA, ...
- ... T, Suzuki A, Ito Y, Ohyashiki K, Hatano Y, Miura I, Nakamura T. ... spectrum of hand-foot-genital syndrome. Am J Hum Genet. 2000 Jul;67(1): ...
- ... 534-40. doi: 10.1007/s11882-001-0062-y. Citation on PubMed ... Fas and Fas ligand: a double-edged sword. Ann Allergy Asthma Immunol. 2010 Apr; ...
- ... 8 that is deleted in people with trichorhinophalangeal syndrome type II (TRPS II). TRPS II is a condition that ... M, Dickinson E, Tennstedt S, Braunholz D, Monnich M, Yan Y, Xu W, Gil-Rodriguez MC, Clark D, Hakonarson ...
- ... Central Tan MH, Mester J, Peterson C, Yang Y, Chen JL, Rybicki LA, ... syndromes: PTEN-opathies and precision medicine. Endocr Relat Cancer. ...
- ... cells (germline mutations) usually cause ILS. ... Free article on PubMed Central Ito K, Nakata Y, Matsuda H, Sugai K, Watanabe M, Kamiya K, ...
- ... DCR1 Dicer dicer 1 ribonuclease III dicer 1, double-stranded RNA-specific endoribonuclease ... DICER1 syndrome: clarifying the diagnosis, clinical features and management implications ...