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Keywords: Gene
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Journal Articles
Subject Area:
Genetics
Mol Syndromol (2024) 15 (4): 311–316.
Published Online: 26 February 2024
...Rojan İpek; Büşra Eser Çavdartepe; Sevcan Tuğ Bozdoğan; Uluç Yiş Introduction: Mutations in collagen type IV-associated genes lead to Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM). COL12A1 gene mutations have rarely been reported in patients with UCMD- and BM-like disorders...
Journal Articles
Journal Articles
Mol Syndromol (2014) 5 (6): 259–267.
Published Online: 26 August 2014
... in the PTHR1 gene have been identified in 4 patients; 3 were somatic and 1 was germline. No PTHR1 mutations have been detected in MS, whereas somatic IDH1 and, more rarely, IDH2 mutations have been observed in 77% of patients with MS and 81% of patients with OD. These genetic alterations are shared with other...
Journal Articles
Mol Syndromol (2013) 4 (4): 157–164.
Published Online: 26 March 2013
...P. Brouillard; L.M. Boon; N. Revencu; J. Berg; A. Dompmartin; J. Dubois; M. Garzon; S. Holden; L. Kangesu; C. Labrèze; S.A. Lynch; C. McKeown; R. Meskauskas; I. Quere; S. Syed; P. Vabres; M. Wassef; J.B. Mulliken; M. Vikkula; GVM Study Group A decade ago, we identified a novel gene, glomulin (GLMN...
Journal Articles
Mol Syndromol (2012) 3 (4): 145–157.
Published Online: 29 August 2012
...E. Martínez-Quintana; F. Rodríguez-González The RAS/MAPK pathway proteins with germline mutations in their respective genes are associated with some disorders such as Noonan, LEOPARD (LS), neurofibromatosis type 1, Costello and cardio-facio-cutaneous syndromes. LEOPARD is an acronym, mnemonic...
Journal Articles