Lesca G - Search Results

1

A novel homozygous truncating mutation of the SFRP4 gene in Pyle's disease.

Chatron N, Lesca G, Labalme A, Rollat-Farnier PA, Monin P, Pichot E, Edery P, Sanlaville D, Rossi M. Chatron N, et al. Among authors: lesca g. Clin Genet. 2017 Jul;92(1):112-114. doi: 10.1111/cge.12907. Epub 2017 Jan 16. Clin Genet. 2017. PMID: 28090630 No abstract available.

2

[Diagnostic trap and difficulties of genetic counseling in a family with neuromuscular disease carriers].

Lesca G, Ollagnon-Roman E, Lachanat J, Dusser A, Edery P, Jeanpierre M, Plauchu H. Lesca G, et al. Arch Pediatr. 2001 Sep;8(9):957-60. doi: 10.1016/s0929-693x(01)00561-9. Arch Pediatr. 2001. PMID: 11582937 French.

3

Xp22.3 microdeletion including VCX-A and VCX-B1 genes in an X-linked ichthyosis family: no difference in deletion size for patients with and without mental retardation.

Lesca G, Sinilnikova O, Theuil G, Blanc J, Edery P, Till M. Lesca G, et al. Clin Genet. 2005 Apr;67(4):367-8. doi: 10.1111/j.1399-0004.2005.00417.x. Clin Genet. 2005. PMID: 15733277 No abstract available.

4

Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation.

Lesca G, Bernard V, Bozon M, Touraine R, Gérard D, Edery P, Calender A. Lesca G, et al. Eur J Med Genet. 2007 May-Jun;50(3):200-8. doi: 10.1016/j.ejmg.2007.02.001. Epub 2007 Feb 20. Eur J Med Genet. 2007. PMID: 17383248

5

Long-term follow-up in 12 children with pulmonary arteriovenous malformations: confirmation of hereditary hemorrhagic telangiectasia in all cases.

Curie A, Lesca G, Cottin V, Edery P, Bellon G, Faughnan ME, Plauchu H. Curie A, et al. Among authors: lesca g. J Pediatr. 2007 Sep;151(3):299-306. doi: 10.1016/j.jpeds.2007.03.021. Epub 2007 Jul 25. J Pediatr. 2007. PMID: 17719943

6

Infantile convulsions with paroxysmal dyskinesia (ICCA syndrome) and copy number variation at human chromosome 16p11.

Roll P, Sanlaville D, Cillario J, Labalme A, Bruneau N, Massacrier A, Délepine M, Dessen P, Lazar V, Robaglia-Schlupp A, Lesca G, Jouve E, Rudolf G, Rochette J, Lathrop GM, Szepetowski P. Roll P, et al. Among authors: lesca g. PLoS One. 2010 Oct 29;5(10):e13750. doi: 10.1371/journal.pone.0013750. PLoS One. 2010. PMID: 21060786 Free PMC article.

7

De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features.

Lesca G, Till M, Labalme A, Vallee D, Hugonenq C, Philip N, Edery P, Sanlaville D. Lesca G, et al. Am J Med Genet A. 2011 Jul;155A(7):1706-11. doi: 10.1002/ajmg.a.34004. Epub 2011 May 27. Am J Med Genet A. 2011. PMID: 21626670

8

Childhood apraxia of speech without intellectual deficit in a patient with cri du chat syndrome.

Marignier S, Lesca G, Marguin J, Bussy G, Sanlaville D, des Portes V. Marignier S, et al. Among authors: lesca g. Eur J Med Genet. 2012 Jun;55(6-7):433-6. doi: 10.1016/j.ejmg.2012.03.008. Epub 2012 Mar 28. Eur J Med Genet. 2012. PMID: 22510527

9

Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism.

Lesca G, Rudolf G, Labalme A, Hirsch E, Arzimanoglou A, Genton P, Motte J, de Saint Martin A, Valenti MP, Boulay C, De Bellescize J, Kéo-Kosal P, Boutry-Kryza N, Edery P, Sanlaville D, Szepetowski P. Lesca G, et al. Epilepsia. 2012 Sep;53(9):1526-38. doi: 10.1111/j.1528-1167.2012.03559.x. Epub 2012 Jun 27. Epilepsia. 2012. PMID: 22738016 Free article.

10

Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations.

Schluth-Bolard C, Labalme A, Cordier MP, Till M, Nadeau G, Tevissen H, Lesca G, Boutry-Kryza N, Rossignol S, Rocas D, Dubruc E, Edery P, Sanlaville D. Schluth-Bolard C, et al. Among authors: lesca g. J Med Genet. 2013 Mar;50(3):144-50. doi: 10.1136/jmedgenet-2012-101351. Epub 2013 Jan 12. J Med Genet. 2013. PMID: 23315544

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