Girard N - Search Results

1

Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus.

Cacciagli P, Sutera-Sardo J, Borges-Correia A, Roux JC, Dorboz I, Desvignes JP, Badens C, Delepine M, Lathrop M, Cau P, Lévy N, Girard N, Sarda P, Boespflug-Tanguy O, Villard L. Cacciagli P, et al. Among authors: girard n. Am J Hum Genet. 2013 Sep 5;93(3):579-86. doi: 10.1016/j.ajhg.2013.07.023. Am J Hum Genet. 2013. PMID: 24011989 Free PMC article.

2

Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three families.

Chabrol B, Girard N, N'Guyen K, Gérard A, Carlier M, Villard L, Philip N. Chabrol B, et al. Among authors: n guyen k, girard n. Am J Med Genet A. 2005 Nov 1;138(4):314-7. doi: 10.1002/ajmg.a.30882. Am J Med Genet A. 2005. PMID: 16158428

3

Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia.

Mignon-Ravix C, Cacciagli P, El-Waly B, Moncla A, Milh M, Girard N, Chabrol B, Philip N, Villard L. Mignon-Ravix C, et al. Among authors: girard n. J Med Genet. 2010 Feb;47(2):132-6. doi: 10.1136/jmg.2009.069112. Epub 2009 Jul 26. J Med Genet. 2010. PMID: 19635726

4

AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).

Cacciagli P, Desvignes JP, Girard N, Delepine M, Zelenika D, Lathrop M, Lévy N, Ledbetter DH, Dobyns WB, Villard L. Cacciagli P, et al. Among authors: girard n. Eur J Hum Genet. 2014 Mar;22(3):363-8. doi: 10.1038/ejhg.2013.135. Epub 2013 Jun 12. Eur J Hum Genet. 2014. PMID: 23756445 Free PMC article.

5

Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes.

Mignon-Ravix C, Cacciagli P, Choucair N, Popovici C, Missirian C, Milh M, Mégarbané A, Busa T, Julia S, Girard N, Badens C, Sigaudy S, Philip N, Villard L. Mignon-Ravix C, et al. Among authors: girard n. Am J Med Genet A. 2014 Aug;164A(8):1991-7. doi: 10.1002/ajmg.a.36602. Epub 2014 May 9. Am J Med Genet A. 2014. PMID: 24817631

6

Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient.

Abidi A, Mignon-Ravix C, Cacciagli P, Girard N, Milh M, Villard L. Abidi A, et al. Among authors: girard n. Eur J Hum Genet. 2016 Apr;24(4):615-8. doi: 10.1038/ejhg.2015.159. Epub 2015 Jul 15. Eur J Hum Genet. 2016. PMID: 26173968 Free PMC article.

7

The phenotype caused by recessive variations in SLC25A22: Report of a new case and literature review.

André MV, Cacciagli P, Cano A, Vaugier L, Roussel M, Girard N, Chabrol B, Villard L, Milh M. André MV, et al. Among authors: girard n. Arch Pediatr. 2021 Jan;28(1):87-92. doi: 10.1016/j.arcped.2020.10.015. Epub 2020 Dec 17. Arch Pediatr. 2021. PMID: 33342683 Review.

8

The Brain Connectome after Gamma Knife Radiosurgery of the Ventro-Intermediate Nucleus for Tremor: Marseille-Lausanne Radiobiology Study Protocol.

Tuleasca C, Witjas T, Levivier M, Girard N, Cretol A, Levy N, Thiran JP, Guedj E, Van de Ville D, Régis J. Tuleasca C, et al. Among authors: girard n. Stereotact Funct Neurosurg. 2021;99(5):387-392. doi: 10.1159/000514066. Epub 2021 Mar 8. Stereotact Funct Neurosurg. 2021. PMID: 33684913 Free article.

9

Coffin-Siris syndrome with multiple congenital malformations and intrauterine death: towards a better delineation of the severe end of the spectrum.

Coulibaly B, Sigaudy S, Girard N, Popovici C, Missirian C, Heckenroth H, Tasei AM, Fernandez C. Coulibaly B, et al. Among authors: girard n. Eur J Med Genet. 2010 Sep-Oct;53(5):318-21. doi: 10.1016/j.ejmg.2010.07.005. Epub 2010 Jul 30. Eur J Med Genet. 2010. PMID: 20624500

10

Creatine, Glutamine plus Glutamate, and Macromolecules Are Decreased in the Central White Matter of Premature Neonates around Term.

Koob M, Viola A, Le Fur Y, Viout P, Ratiney H, Confort-Gouny S, Cozzone PJ, Girard N. Koob M, et al. Among authors: girard n. PLoS One. 2016 Aug 22;11(8):e0160990. doi: 10.1371/journal.pone.0160990. eCollection 2016. PLoS One. 2016. PMID: 27547969 Free PMC article.

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