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Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.
Passemard S, Titomanlio L, Elmaleh M, Afenjar A, Alessandri JL, Andria G, de Villemeur TB, Boespflug-Tanguy O, Burglen L, Del Giudice E, Guimiot F, Hyon C, Isidor B, Mégarbané A, Moog U, Odent S, Hernandez K, Pouvreau N, Scala I, Schaer M, Gressens P, Gerard B, Verloes A. Passemard S, et al. Among authors: verloes a. Neurology. 2009 Sep 22;73(12):962-9. doi: 10.1212/WNL.0b013e3181b8799a. Neurology. 2009. PMID: 19770472
Classical West "syndrome" phenotype with a subtelomeric 4p trisomy.
Gérard-Blanluet M, Romana S, Munier C, Le Lorc'h M, Kanafani S, Sinico M, Touboul C, Levaillant JM, Haddad B, Lopez N, Lelong F, De Villemeur TB, Verloes A, Borghi E. Gérard-Blanluet M, et al. Among authors: verloes a. Am J Med Genet A. 2004 Oct 15;130A(3):299-302. doi: 10.1002/ajmg.a.30314. Am J Med Genet A. 2004. PMID: 15378535
BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families.
Stoetzel C, Laurier V, Faivre L, Mégarbané A, Perrin-Schmitt F, Verloes A, Bonneau D, Mandel JL, Cossee M, Dollfus H. Stoetzel C, et al. Among authors: verloes a. J Hum Genet. 2006;51(1):81-84. doi: 10.1007/s10038-005-0320-2. Epub 2005 Nov 25. J Hum Genet. 2006. PMID: 16308660
Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.
Verloes A, Bremond-Gignac D, Isidor B, David A, Baumann C, Leroy MA, Stevens R, Gillerot Y, Héron D, Héron B, Benzacken B, Lacombe D, Brunner H, Bitoun P. Verloes A, et al. Am J Med Genet A. 2006 Jun 15;140(12):1285-96. doi: 10.1002/ajmg.a.31270. Am J Med Genet A. 2006. PMID: 16700052
We report on 11 patients from 8 families with a blepharophimosis and mental retardation syndrome (BMRS) phenotype. ...A definitive clinical and etiologic classification of BMRS is lacking, but closer phenotypic analysis should lead to a more useful appraisal …
We report on 11 patients from 8 families with a blepharophimosis and mental retardation syndrome (BMRS) phenotype. ...A defini …
503 results