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1-6 of 6
Keywords: Gene
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Journal Articles
Subject Area:
Genetics
Journal:
Molecular Syndromology
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
Saranya Varadarajan, Thodur Madapusi Balaji, A. Thirumal Raj, Archana A. Gupta, Shankargouda Patil, Tariq Hassan Alhazmi, Halah Athman Ali Alaqi, Neda Essa M. Al Omar, Somayh Abu Baker A. Almutaher, Alhassen Abdurabu Jafer, Ismaeel Abker Hedad
Journal:
Molecular Syndromology
Mol Syndromol (2021) 12 (2): 69–86.
Published Online: 18 March 2021
... and sPRS. The present systematic review aims to provide a comprehensive collection of published literature reporting genetic mutations in PRS. Web of Science, PubMed, and Scopus were searched using the keywords: “Pierre Robin syndrome/sequence AND gene mutation.” The search resulted in 208 articles...
Journal Articles
Mustapha Amyere, Anne Dompmartin, Vinciane Wouters, Odile Enjolras, Ilkka Kaitila, Pierre-Louis Docquier, Catherine Godfraind, John Butler Mulliken, Laurence Myriam Boon, Miikka Vikkula
Journal:
Molecular Syndromology
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
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
Journal:
Molecular Syndromology
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
Journal:
Molecular Syndromology
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
Journal:
Molecular Syndromology
Mol Syndromol (2011) 1 (4): 169–175.
Published Online: 10 January 2011
..., and Hirschsprung disease. WS presents a large clinical and genetic heterogeneity. Four different types have been individualized and linked to 5 different genes. We report 2 cases of WS type II and 1 case of WS type IV from Lebanon and Syria. The genetic studies revealed 2 novel mutations in the MITF gene of the WS...