Verloes A - Search Results

1

Developmental Phenotype of the Rare Case of DJ Caused by a Unique ADNP Gene De Novo Mutation.

Levine J, Cohen D, Herman C, Verloes A, Guinchat V, Diaz L, Cravero C, Mandel A, Gozes I. Levine J, et al. Among authors: verloes a. J Mol Neurosci. 2019 Jul;68(3):321-330. doi: 10.1007/s12031-019-01333-9. J Mol Neurosci. 2019. PMID: 31127536 No abstract available.

2

Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype.

Tordjman S, Anderson GM, Botbol M, Toutain A, Sarda P, Carlier M, Saugier-Veber P, Baumann C, Cohen D, Lagneaux C, Tabet AC, Verloes A. Tordjman S, et al. Among authors: verloes a. PLoS One. 2012;7(3):e30778. doi: 10.1371/journal.pone.0030778. Epub 2012 Mar 6. PLoS One. 2012. PMID: 22412832 Free PMC article.

3

Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndrome.

Tordjman S, Anderson GM, Cohen D, Kermarrec S, Carlier M, Touitou Y, Saugier-Veber P, Lagneaux C, Chevreuil C, Verloes A. Tordjman S, et al. Among authors: verloes a. Mol Autism. 2013 Aug 23;4(1):29. doi: 10.1186/2040-2392-4-29. Mol Autism. 2013. PMID: 23972161 Free PMC article.

4

Specific genetic disorders and autism: clinical contribution towards their identification.

Cohen D, Pichard N, Tordjman S, Baumann C, Burglen L, Excoffier E, Lazar G, Mazet P, Pinquier C, Verloes A, Héron D. Cohen D, et al. Among authors: verloes a. J Autism Dev Disord. 2005 Feb;35(1):103-16. doi: 10.1007/s10803-004-1038-2. J Autism Dev Disord. 2005. PMID: 15796126 Review.

5

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.

Passemard S, Titomanlio L, Elmaleh M, Afenjar A, Alessandri JL, Andria G, de Villemeur TB, Boespflug-Tanguy O, Burglen L, Del Giudice E, Guimiot F, Hyon C, Isidor B, Mégarbané A, Moog U, Odent S, Hernandez K, Pouvreau N, Scala I, Schaer M, Gressens P, Gerard B, Verloes A. Passemard S, et al. Among authors: verloes a. Neurology. 2009 Sep 22;73(12):962-9. doi: 10.1212/WNL.0b013e3181b8799a. Neurology. 2009. PMID: 19770472

6

A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features.

Poirsier-Violle C, Abourra A, Baumann C, Perrin L, Capri Y, Mignot C, Passemard S, Drunat S, Verloes A. Poirsier-Violle C, et al. Among authors: verloes a. Eur J Med Genet. 2013 Apr;56(4):226-8. doi: 10.1016/j.ejmg.2012.12.005. Epub 2013 Jan 19. Eur J Med Genet. 2013. PMID: 23337768

7

Circadian rhythm disorder in a rare disease: Smith-Magenis syndrome.

De Leersnyder H, Claustrat B, Munnich A, Verloes A. De Leersnyder H, et al. Among authors: verloes a. Mol Cell Endocrinol. 2006 Jun 27;252(1-2):88-91. doi: 10.1016/j.mce.2006.03.043. Epub 2006 May 24. Mol Cell Endocrinol. 2006. PMID: 16723183

8

[Diagnostic investigations for an unexplained developmental disability].

Verloes A, Héron D, Billette de Villemeur T, Afenjar A, Baumann C, Bahi-Buisson N, Charles P, Faudet A, Jacquette A, Mignot C, Moutard ML, Passemard S, Rio M, Robel L, Rougeot C, Ville D, Burglen L, des Portes V; Réseau DéfiScience. Verloes A, et al. Arch Pediatr. 2012 Feb;19(2):194-207. doi: 10.1016/j.arcped.2011.11.014. Epub 2012 Jan 14. Arch Pediatr. 2012. PMID: 22245660 French.

9

Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia.

Kraoua L, Journel H, Bonnet P, Amiel J, Pouvreau N, Baumann C, Verloes A, Cavé H. Kraoua L, et al. Among authors: verloes a. Am J Med Genet A. 2012 Oct;158A(10):2407-11. doi: 10.1002/ajmg.a.35513. Epub 2012 Aug 7. Am J Med Genet A. 2012. PMID: 22887781

10

De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability.

Tabet AC, Leroy C, Dupont C, Serrano E, Hernandez K, Gallard J, Pouvreau N, Gadisseux JF, Benzacken B, Verloes A. Tabet AC, et al. Among authors: verloes a. Am J Med Genet A. 2014 Sep;164A(9):2335-7. doi: 10.1002/ajmg.a.36619. Epub 2014 May 28. Am J Med Genet A. 2014. PMID: 24891185

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