Cacciagli P - Search Results

1

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: cacciagli p. 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.

2

A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype.

Moncla A, Missirian C, Cacciagli P, Balzamo E, Legeai-Mallet L, Jouve JL, Chabrol B, Le Merrer M, Plessis G, Villard L, Philip N. Moncla A, et al. Among authors: cacciagli p. Hum Mutat. 2007 Dec;28(12):1183-8. doi: 10.1002/humu.20611. Hum Mutat. 2007. PMID: 17676597

3

TCF4 deletions in Pitt-Hopkins Syndrome.

Giurgea I, Missirian C, Cacciagli P, Whalen S, Fredriksen T, Gaillon T, Rankin J, Mathieu-Dramard M, Morin G, Martin-Coignard D, Dubourg C, Chabrol B, Arfi J, Giuliano F, Claude Lambert J, Philip N, Sarda P, Villard L, Goossens M, Moncla A. Giurgea I, et al. Among authors: cacciagli p. Hum Mutat. 2008 Nov;29(11):E242-51. doi: 10.1002/humu.20859. Hum Mutat. 2008. PMID: 18781613

4

Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features.

Haddad MR, Mignon-Ravix C, Cacciagli P, Mégarbané A, Villard L. Haddad MR, et al. Among authors: cacciagli p. Eur J Med Genet. 2009 Jul-Aug;52(4):211-7. doi: 10.1016/j.ejmg.2009.04.002. Epub 2009 Apr 18. Eur J Med Genet. 2009. PMID: 19379847

5

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: cacciagli p. 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

6

Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype.

Cacciagli P, Haddad MR, Mignon-Ravix C, El-Waly B, Moncla A, Missirian C, Chabrol B, Villard L. Cacciagli P, et al. Eur J Hum Genet. 2010 Dec;18(12):1360-3. doi: 10.1038/ejhg.2010.126. Epub 2010 Aug 4. Eur J Hum Genet. 2010. PMID: 20683487 Free PMC article.

7

Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.

Milh M, Villeneuve N, Chouchane M, Kaminska A, Laroche C, Barthez MA, Gitiaux C, Bartoli C, Borges-Correia A, Cacciagli P, Mignon-Ravix C, Cuberos H, Chabrol B, Villard L. Milh M, et al. Among authors: cacciagli p. Epilepsia. 2011 Oct;52(10):1828-34. doi: 10.1111/j.1528-1167.2011.03181.x. Epub 2011 Jul 19. Epilepsia. 2011. PMID: 21770924 Free article.

8

Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy.

Milh M, Falace A, Villeneuve N, Vanni N, Cacciagli P, Assereto S, Nabbout R, Benfenati F, Zara F, Chabrol B, Villard L, Fassio A. Milh M, et al. Among authors: cacciagli p. Hum Mutat. 2013 Jun;34(6):869-72. doi: 10.1002/humu.22318. Epub 2013 Apr 12. Hum Mutat. 2013. PMID: 23526554

9

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. 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.

10

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. 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.

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