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Page 1
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.
Benkirane M, Marelli C, Guissart C, Roubertie A, Ollagnon E, Choumert A, Fluchère F, Magne FO, Halleb Y, Renaud M, Larrieu L, Baux D, Patat O, Bousquet I, Ravel JM, Cuntz-Shadfar D, Sarret C, Ayrignac X, Rolland A, Morales R, Pointaux M, Lieutard-Haag C, Laurens B, Tillikete C, Bernard E, Mallaret M, Carra-Dallière C, Tranchant C, Meyer P, Damaj L, Pasquier L, Acquaviva C, Chaussenot A, Isidor B, Nguyen K, Camu W, Eusebio A, Carrière N, Riquet A, Thouvenot E, Gonzales V, Carme E, Attarian S, Odent S, Castrioto A, Ewenczyk C, Charles P, Kremer L, Sissaoui S, Bahi-Buisson N, Kaphan E, Degardin A, Doray B, Julia S, Remerand G, Fraix V, Haidar LA, Lazaro L, Laugel V, Villega F, Charlin C, Frismand S, Moreira MC, Witjas T, Francannet C, Walther-Louvier U, Fradin M, Chabrol B, Fluss J, Bieth E, Castelnovo G, Vergnet S, Meunier I, Verloes A, Brischoux-Boucher E, Coubes C, Geneviève D, Lebouc N, Azulay JP, Anheim M, Goizet C, Rivier F, Labauge P, Calvas P, Koenig M. Benkirane M, et al. Among authors: verloes a. Genet Med. 2021 Nov;23(11):2160-2170. doi: 10.1038/s41436-021-01250-6. Epub 2021 Jul 7. Genet Med. 2021. PMID: 34234304 Free article.
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. Using current nosology, five sporadic patients have Ohdo syndrome, associated with congenital hypothyroidism in two of them (thus also compatible with a …
We report on 11 patients from 8 families with a blepharophimosis and mental retardation syndrome (BMRS) phenotype. Using current noso …
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.
Willems M, Geneviève D, Borck G, Baumann C, Baujat G, Bieth E, Edery P, Farra C, Gerard M, Héron D, Leheup B, Le Merrer M, Lyonnet S, Martin-Coignard D, Mathieu M, Thauvin-Robinet C, Verloes A, Colleaux L, Munnich A, Cormier-Daire V. Willems M, et al. Among authors: verloes a. J Med Genet. 2010 Dec;47(12):797-802. doi: 10.1136/jmg.2009.067298. Epub 2009 Jul 29. J Med Genet. 2010. PMID: 19643772 Free article.
Mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type: follow-up study documents progressive clinical course.
Isidor B, Hamel A, Plasschaert F, Claus L, Mercier JM, Mortier GR, Leroy JG, Verloes A, David A. Isidor B, et al. Among authors: verloes a. Am J Med Genet A. 2009 Oct;149A(10):2220-5. doi: 10.1002/ajmg.a.32926. Am J Med Genet A. 2009. PMID: 19725128
In this article, we report on the follow-up of some of the original cases and review the literature. We confirm that the Verloes-David-Pfeiffer syndrome (VDPS) is a progressive skeletal disorder that despite repeated corrective surgical intervention leads to severe …
In this article, we report on the follow-up of some of the original cases and review the literature. We confirm that the Verloes-Davi …
Polyvalvular heart disease with joint hypermobility, characteristic facies, and particular skin abnormalities: new cases of "polyvalvular heart disease syndrome" or new association?
Edouard T, Prost-Squarcioni C, Dulac Y, Vaysse F, Cavé H, Saugier-Veber P, Bourrouillou G, Verloes A, Tauber M, Bieth E. Edouard T, et al. Among authors: verloes a. Eur J Med Genet. 2010 Jan-Feb;53(1):29-34. doi: 10.1016/j.ejmg.2009.11.002. Epub 2009 Nov 20. Eur J Med Genet. 2010. PMID: 19932204
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.
Redin C, Le Gras S, Mhamdi O, Geoffroy V, Stoetzel C, Vincent MC, Chiurazzi P, Lacombe D, Ouertani I, Petit F, Till M, Verloes A, Jost B, Chaabouni HB, Dollfus H, Mandel JL, Muller J. Redin C, et al. Among authors: verloes a. J Med Genet. 2012 Aug;49(8):502-12. doi: 10.1136/jmedgenet-2012-100875. Epub 2012 Jul 7. J Med Genet. 2012. PMID: 22773737 Free PMC article.
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.
Plaisancié J, Bailleul-Forestier I, Gaston V, Vaysse F, Lacombe D, Holder-Espinasse M, Abramowicz M, Coubes C, Plessis G, Faivre L, Demeer B, Vincent-Delorme C, Dollfus H, Sigaudy S, Guillén-Navarro E, Verloes A, Jonveaux P, Martin-Coignard D, Colin E, Bieth E, Calvas P, Chassaing N. Plaisancié J, et al. Among authors: verloes a. Am J Med Genet A. 2013 Apr;161A(4):671-8. doi: 10.1002/ajmg.a.35747. Epub 2013 Feb 7. Am J Med Genet A. 2013. PMID: 23401279
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations.
Isidor B, Lefebvre T, Le Vaillant C, Caillaud G, Faivre L, Jossic F, Joubert M, Winer N, Le Caignec C, Borck G, Pelet A, Amiel J, Toutain A, Ronce N, Raynaud M, Verloes A, David A. Isidor B, et al. Among authors: verloes a. Am J Med Genet A. 2014 Jul;164A(7):1821-5. doi: 10.1002/ajmg.a.36539. Epub 2014 Apr 8. Am J Med Genet A. 2014. PMID: 24715367
512 results