Rio M - Search Results

1

De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures.

Hubert L, Cannata Serio M, Villoing-Gaudé L, Boddaert N, Kaminska A, Rio M, Lyonnet S, Munnich A, Poirier K, Simons M, Besmond C. Hubert L, et al. Among authors: rio m. J Med Genet. 2020 Feb;57(2):138-144. doi: 10.1136/jmedgenet-2018-105927. Epub 2019 Aug 22. J Med Genet. 2020. PMID: 31439720

2

A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation.

Colleaux L, Rio M, Heuertz S, Moindrault S, Turleau C, Ozilou C, Gosset P, Raoult O, Lyonnet S, Cormier-Daire V, Amiel J, Le Merrer M, Picq M, de Blois MC, Prieur M, Romana S, Cornelis F, Vekemans M, Munnich A. Colleaux L, et al. Among authors: rio m. Eur J Hum Genet. 2001 May;9(5):319-27. doi: 10.1038/sj.ejhg.5200591. Eur J Hum Genet. 2001. PMID: 11378819

3

Partial maternal heterodisomy of chromosome 17q25 in a case of severe mental retardation.

Rio M, Ozilou C, Cormier-Daire V, Turleau C, Prieur M, Vekemans M, Chauveau P, Munnich A, Colleaux L. Rio M, et al. Hum Genet. 2001 Jun;108(6):511-5. doi: 10.1007/s004390100522. Hum Genet. 2001. PMID: 11499677

4

Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation.

Rio M, Molinari F, Heuertz S, Ozilou C, Gosset P, Raoul O, Cormier-Daire V, Amiel J, Lyonnet S, Le Merrer M, Turleau C, de Blois MC, Prieur M, Romana S, Vekemans M, Munnich A, Colleaux L. Rio M, et al. J Med Genet. 2002 Apr;39(4):266-70. doi: 10.1136/jmg.39.4.266. J Med Genet. 2002. PMID: 11950856 Free PMC article.

5

Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation.

Molinari F, Rio M, Meskenaite V, Encha-Razavi F, Augé J, Bacq D, Briault S, Vekemans M, Munnich A, Attié-Bitach T, Sonderegger P, Colleaux L. Molinari F, et al. Among authors: rio m. Science. 2002 Nov 29;298(5599):1779-81. doi: 10.1126/science.1076521. Science. 2002. PMID: 12459588

6

Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood?

Cormier-Daire V, Molinari F, Rio M, Raoul O, de Blois MC, Romana S, Vekemans M, Munnich A, Colleaux L. Cormier-Daire V, et al. Among authors: rio m. J Med Genet. 2003 Apr;40(4):300-3. doi: 10.1136/jmg.40.4.300. J Med Genet. 2003. PMID: 12676904 Free PMC article. No abstract available.

7

Spectrum of NSD1 mutations in Sotos and Weaver syndromes.

Rio M, Clech L, Amiel J, Faivre L, Lyonnet S, Le Merrer M, Odent S, Lacombe D, Edery P, Brauner R, Raoul O, Gosset P, Prieur M, Vekemans M, Munnich A, Colleaux L, Cormier-Daire V. Rio M, et al. J Med Genet. 2003 Jun;40(6):436-40. doi: 10.1136/jmg.40.6.436. J Med Genet. 2003. PMID: 12807965 Free PMC article.

8

Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.

Baujat G, Rio M, Rossignol S, Sanlaville D, Lyonnet S, Le Merrer M, Munnich A, Gicquel C, Cormier-Daire V, Colleaux L. Baujat G, et al. Among authors: rio m. Am J Hum Genet. 2004 Apr;74(4):715-20. doi: 10.1086/383093. Epub 2004 Mar 1. Am J Hum Genet. 2004. PMID: 14997421 Free PMC article.

9

[Diagnostic approach in patients with severe and syndromic mental retardation].

Rio M, Colleaux L, Sanlaville D, Borck G, Molinari F, Munnich A. Rio M, et al. Arch Pediatr. 2004 Jun;11(6):566-8. doi: 10.1016/j.arcped.2004.03.061. Arch Pediatr. 2004. PMID: 15158836 French. No abstract available.

10

Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation.

Borck G, Rio M, Sanlaville D, Redon R, Molinari F, Bacq D, Raoul O, Cormier-Daire V, Lyonnet S, Amiel J, Le Merrer M, de Blois MC, Prieur M, Vekemans M, Carter NP, Munnich A, Colleaux L. Borck G, et al. Among authors: rio m. Clin Genet. 2004 Aug;66(2):122-7. doi: 10.1111/j.1399-0004.2004.00288.x. Clin Genet. 2004. PMID: 15253762

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