Cormier-Daire V - Search Results

1

Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.

Graul-Neumann LM, Deichsel A, Wille U, Kakar N, Koll R, Bassir C, Ahmad J, Cormier-Daire V, Mundlos S, Kubisch C, Borck G, Klopocki E, Mueller TD, Doelken SC, Seemann P. Graul-Neumann LM, et al. Eur J Hum Genet. 2014 Jun;22(6):726-33. doi: 10.1038/ejhg.2013.222. Epub 2013 Oct 16. Eur J Hum Genet. 2014. PMID: 24129431 Free PMC article.

2

Prenatal diagnosis in CDG1 families: beware of heterogeneity.

Matthijs G, Schollen E, Cassiman JJ, Cormier-Daire V, Jaeken J, van Schaftingen E. Matthijs G, et al. Eur J Hum Genet. 1998 Mar-Apr;6(2):99-104. doi: 10.1038/sj.ejhg.5200161. Eur J Hum Genet. 1998. PMID: 9781052

3

Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome.

El Ghouzzi V, Lajeunie E, Le Merrer M, Cormier-Daire V, Renier D, Munnich A, Bonaventure J. El Ghouzzi V, et al. Eur J Hum Genet. 1999 Jan;7(1):27-33. doi: 10.1038/sj.ejhg.5200240. Eur J Hum Genet. 1999. PMID: 10094188

4

Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type.

Faivre L, Le Merrer M, Megarbane A, Gilbert B, Mortier G, Cusin V, Munnich A, Maroteaux P, Cormier-Daire V. Faivre L, et al. J Med Genet. 2000 Jan;37(1):52-4. doi: 10.1136/jmg.37.1.52. J Med Genet. 2000. PMID: 10633136 Free PMC article.

5

Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2.

Faivre L, Mégarbané A, Alswaid A, Zylberberg L, Aldohayan N, Campos-Xavier B, Bacq D, Legeai-Mallet L, Bonaventure J, Munnich A, Cormier-Daire V. Faivre L, et al. Hum Genet. 2002 Apr;110(4):366-70. doi: 10.1007/s00439-002-0689-3. Epub 2002 Mar 13. Hum Genet. 2002. PMID: 11941487

6

Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature.

Faivre L, Gosset P, Cormier-Daire V, Odent S, Amiel J, Giurgea I, Nassogne MC, Pasquier L, Munnich A, Romana S, Prieur M, Vekemans M, De Blois MC, Turleau C. Faivre L, et al. Eur J Hum Genet. 2002 Nov;10(11):699-706. doi: 10.1038/sj.ejhg.5200879. Eur J Hum Genet. 2002. PMID: 12404101

7

Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis.

Campos-Xavier AB, Saraiva JM, Ribeiro LM, Munnich A, Cormier-Daire V. Campos-Xavier AB, et al. Hum Genet. 2003 Feb;112(2):186-9. doi: 10.1007/s00439-002-0861-9. Epub 2002 Nov 7. Hum Genet. 2003. PMID: 12522560

8

Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome.

El Ghouzzi V, Dagoneau N, Kinning E, Thauvin-Robinet C, Chemaitilly W, Prost-Squarcioni C, Al-Gazali LI, Verloes A, Le Merrer M, Munnich A, Trembath RC, Cormier-Daire V. El Ghouzzi V, et al. Hum Mol Genet. 2003 Feb 1;12(3):357-64. doi: 10.1093/hmg/ddg029. Hum Mol Genet. 2003. PMID: 12554689

9

Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.

Dagoneau N, Scheffer D, Huber C, Al-Gazali LI, Di Rocco M, Godard A, Martinovic J, Raas-Rothschild A, Sigaudy S, Unger S, Nicole S, Fontaine B, Taupin JL, Moreau JF, Superti-Furga A, Le Merrer M, Bonaventure J, Munnich A, Legeai-Mallet L, Cormier-Daire V. Dagoneau N, et al. Am J Hum Genet. 2004 Feb;74(2):298-305. doi: 10.1086/381715. Epub 2004 Jan 21. Am J Hum Genet. 2004. PMID: 14740318 Free PMC article.

10

Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.

Bartels CF, Bükülmez H, Padayatti P, Rhee DK, van Ravenswaaij-Arts C, Pauli RM, Mundlos S, Chitayat D, Shih LY, Al-Gazali LI, Kant S, Cole T, Morton J, Cormier-Daire V, Faivre L, Lees M, Kirk J, Mortier GR, Leroy J, Zabel B, Kim CA, Crow Y, Braverman NE, van den Akker F, Warman ML. Bartels CF, et al. Am J Hum Genet. 2004 Jul;75(1):27-34. doi: 10.1086/422013. Epub 2004 May 14. Am J Hum Genet. 2004. PMID: 15146390 Free PMC article.

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