Manouvrier S - Search Results

1

Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.

Melkoniemi M, Brunner HG, Manouvrier S, Hennekam R, Superti-Furga A, Kääriäinen H, Pauli RM, van Essen T, Warman ML, Bonaventure J, Miny P, Ala-Kokko L. Melkoniemi M, et al. Among authors: manouvrier s. Am J Hum Genet. 2000 Feb;66(2):368-77. doi: 10.1086/302750. Am J Hum Genet. 2000. PMID: 10677296 Free PMC article.

2

Dyssegmental dysplasia with glaucoma.

Maroteaux P, Manouvrier S, Bonaventure J, Le Merrer M. Maroteaux P, et al. Among authors: manouvrier s. Am J Med Genet. 1996 May 3;63(1):46-9. doi: 10.1002/(SICI)1096-8628(19960503)63:1<46::AID-AJMG10>3.0.CO;2-U. Am J Med Genet. 1996. PMID: 8723085

3

Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome.

Vega H, Trainer AH, Gordillo M, Crosier M, Kayserili H, Skovby F, Uzielli ML, Schnur RE, Manouvrier S, Blair E, Hurst JA, Forzano F, Meins M, Simola KO, Raas-Rothschild A, Hennekam RC, Jabs EW. Vega H, et al. Among authors: manouvrier s. J Med Genet. 2010 Jan;47(1):30-7. doi: 10.1136/jmg.2009.068395. Epub 2009 Jul 1. J Med Genet. 2010. PMID: 19574259

4

Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome.

Plancke A, Holder-Espinasse M, Rigau V, Manouvrier S, Claustres M, Khau Van Kien P. Plancke A, et al. Among authors: manouvrier s. Eur J Hum Genet. 2009 Nov;17(11):1411-6. doi: 10.1038/ejhg.2009.76. Epub 2009 May 20. Eur J Hum Genet. 2009. PMID: 19455184 Free PMC article.

5

New autosomal recessive syndrome of severe microcephaly and skeletal anomalies including posterior rib-gap defects.

Duval A, Boute O, Devisme L, Valat AS, Manouvrier S. Duval A, et al. Among authors: manouvrier s. Am J Med Genet. 1998 Dec 4;80(4):429-34. Am J Med Genet. 1998. PMID: 9856577

6

Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome.

Busa T, Jeraiby M, Clémenson A, Manouvrier S, Granados V, Philip N, Touraine R. Busa T, et al. Among authors: manouvrier s. Am J Med Genet A. 2017 Nov;173(11):3114-3117. doi: 10.1002/ajmg.a.38475. Epub 2017 Sep 21. Am J Med Genet A. 2017. PMID: 28940926

7

Radioulnar synostosis, radial ray abnormalities, and severe malformations in the male: a new X-linked dominant multiple congenital anomalies syndrome?

Manouvrier S, Moerman A, Coeslier A, Devisme L, Boute O, Le Merrer M. Manouvrier S, et al. Am J Med Genet. 2000 Feb 28;90(5):351-5. doi: 10.1002/(sici)1096-8628(20000228)90:5<351::aid-ajmg1>3.0.co;2-k. Am J Med Genet. 2000. PMID: 10706353

8

Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer.

Frebourg T, Oliveira C, Hochain P, Karam R, Manouvrier S, Graziadio C, Vekemans M, Hartmann A, Baert-Desurmont S, Alexandre C, Lejeune Dumoulin S, Marroni C, Martin C, Castedo S, Lovett M, Winston J, Machado JC, Attié T, Jabs EW, Cai J, Pellerin P, Triboulet JP, Scotte M, Le Pessot F, Hedouin A, Carneiro F, Blayau M, Seruca R. Frebourg T, et al. Among authors: manouvrier s. J Med Genet. 2006 Feb;43(2):138-42. doi: 10.1136/jmg.2005.031385. Epub 2005 Apr 14. J Med Genet. 2006. PMID: 15831593 Free PMC article.

9

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.

Hilton E, Johnston J, Whalen S, Okamoto N, Hatsukawa Y, Nishio J, Kohara H, Hirano Y, Mizuno S, Torii C, Kosaki K, Manouvrier S, Boute O, Perveen R, Law C, Moore A, Fitzpatrick D, Lemke J, Fellmann F, Debray FG, Dastot-Le-Moal F, Gerard M, Martin J, Bitoun P, Goossens M, Verloes A, Schinzel A, Bartholdi D, Bardakjian T, Hay B, Jenny K, Johnston K, Lyons M, Belmont JW, Biesecker LG, Giurgea I, Black G. Hilton E, et al. Among authors: manouvrier s. Eur J Hum Genet. 2009 Oct;17(10):1325-35. doi: 10.1038/ejhg.2009.52. Epub 2009 Apr 15. Eur J Hum Genet. 2009. PMID: 19367324 Free PMC article.

10

[Genetic testing in the context of the revision of the French law on bioethics].

Bonneau D, Marlin S, Sanlaville D, Dupont JM, Sobol H, Gonzales M, Le Merrer M, Malzac P, Razavi F, Manouvrier S, Odent S, Stoppa-Lyonnet D. Bonneau D, et al. Among authors: manouvrier s. Pathol Biol (Paris). 2010 Oct;58(5):396-401. doi: 10.1016/j.patbio.2009.12.002. Epub 2010 Feb 8. Pathol Biol (Paris). 2010. PMID: 20116936 Review. French.

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