El Ghouzzi V - Search Results

1

Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1.

Thauvin-Robinet C, El Ghouzzi V, Chemaitilly W, Dagoneau N, Boute O, Viot G, Mégarbané A, Sefiani A, Munnich A, Le Merrer M, Cormier-Daire V. Thauvin-Robinet C, et al. Among authors: el ghouzzi v. J Med Genet. 2002 Oct;39(10):714-7. doi: 10.1136/jmg.39.10.714. J Med Genet. 2002. PMID: 12362026 Free PMC article.

2

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

3

Recent advances in Dyggve-Melchior-Clausen syndrome.

Paupe V, Gilbert T, Le Merrer M, Munnich A, Cormier-Daire V, El Ghouzzi V. Paupe V, et al. Among authors: el ghouzzi v. Mol Genet Metab. 2004 Sep-Oct;83(1-2):51-9. doi: 10.1016/j.ymgme.2004.08.012. Mol Genet Metab. 2004. PMID: 15464420 Review.

4

Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation.

Geneviève D, Héron D, El Ghouzzi V, Prost-Squarcioni C, Le Merrer M, Jacquette A, Sanlaville D, Pinton F, Villeneuve N, Kalifa G, Munnich A, Cormier-Daire V. Geneviève D, et al. Among authors: el ghouzzi v. Eur J Hum Genet. 2005 May;13(5):541-6. doi: 10.1038/sj.ejhg.5201339. Eur J Hum Genet. 2005. PMID: 15726110 Free article.

5

Lajeunie E, El Ghouzzi V, Le Merrer M, Munnich A, Bonaventure J, Renier D. Lajeunie E, et al. Among authors: el ghouzzi v. J Med Genet. 1999 Jan;36(1):9-13. J Med Genet. 1999. PMID: 9950359 Free PMC article.

6

Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia.

Neumann LM, El Ghouzzi V, Paupe V, Weber HP, Fastnacht E, Leenen A, Lyding S, Klusmann A, Mayatepek E, Pelz J, Cormier-Daire V. Neumann LM, et al. Among authors: el ghouzzi v. Am J Med Genet A. 2006 Mar 1;140(5):421-6. doi: 10.1002/ajmg.a.31090. Am J Med Genet A. 2006. PMID: 16470731

7

The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus.

Dimitrov A, Paupe V, Gueudry C, Sibarita JB, Raposo G, Vielemeyer O, Gilbert T, Csaba Z, Attie-Bitach T, Cormier-Daire V, Gressens P, Rustin P, Perez F, El Ghouzzi V. Dimitrov A, et al. Among authors: el ghouzzi v. Hum Mol Genet. 2009 Feb 1;18(3):440-53. doi: 10.1093/hmg/ddn371. Epub 2008 Nov 7. Hum Mol Genet. 2009. PMID: 18996921 Free article.

8

Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).

Rousseau F, el Ghouzzi V, Delezoide AL, Legeai-Mallet L, Le Merrer M, Munnich A, Bonaventure J. Rousseau F, et al. Among authors: el ghouzzi v. Hum Mol Genet. 1996 Apr;5(4):509-12. doi: 10.1093/hmg/5.4.509. Hum Mol Genet. 1996. PMID: 8845844

9

Mutations of the TWIST gene in the Saethre-Chotzen syndrome.

el Ghouzzi V, Le Merrer M, Perrin-Schmitt F, Lajeunie E, Benit P, Renier D, Bourgeois P, Bolcato-Bellemin AL, Munnich A, Bonaventure J. el Ghouzzi V, et al. Nat Genet. 1997 Jan;15(1):42-6. doi: 10.1038/ng0197-42. Nat Genet. 1997. PMID: 8988167

10

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

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