Capra V - Search Results

1

Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review.

Romano F, Falco M, Cappuccio G, Brunetti-Pierri N, Lonardo F, Torella A, Digilio MC, Dentici ML, Alfieri P, Agolini E, Novelli A, Garavelli L, Accogli A; TUDP; Striano P, Scarano G, Nigro V, Scala M, Capra V. Romano F, et al. Among authors: capra v. Birth Defects Res. 2022 Aug 1;114(13):759-767. doi: 10.1002/bdr2.2058. Epub 2022 Jun 18. Birth Defects Res. 2022. PMID: 35716097 Free PMC article. Review.

2

Mutational screening of the CYP26A1 gene in patients with caudal regression syndrome.

De Marco P, Merello E, Mascelli S, Raso A, Santamaria A, Ottaviano C, Calevo MG, Cama A, Capra V. De Marco P, et al. Among authors: capra v. Birth Defects Res A Clin Mol Teratol. 2006 Feb;76(2):86-95. doi: 10.1002/bdra.20225. Birth Defects Res A Clin Mol Teratol. 2006. PMID: 16463413

3

HLXB9 homeobox gene and caudal regression syndrome.

Merello E, De Marco P, Mascelli S, Raso A, Calevo MG, Torre M, Cama A, Lerone M, Martucciello G, Capra V. Merello E, et al. Among authors: capra v. Birth Defects Res A Clin Mol Teratol. 2006 Mar;76(3):205-9. doi: 10.1002/bdra.20234. Birth Defects Res A Clin Mol Teratol. 2006. PMID: 16498628

4

No major role for the EMX2 gene in schizencephaly.

Merello E, Swanson E, De Marco P, Akhter M, Striano P, Rossi A, Cama A, Leventer RJ, Guerrini R, Capra V, Dobyns WB. Merello E, et al. Among authors: capra v. Am J Med Genet A. 2008 May 1;146A(9):1142-50. doi: 10.1002/ajmg.a.32264. Am J Med Genet A. 2008. PMID: 18409201

5

Treatment and outcome of children with cerebral cavernomas: a survey on 32 patients.

Consales A, Piatelli G, Ravegnani M, Pavanello M, Striano P, Zoli ML, Capra V, Rossi A, Garrè ML, Calevo MG, Cama A. Consales A, et al. Among authors: capra v. Neurol Sci. 2010 Apr;31(2):117-23. doi: 10.1007/s10072-009-0157-0. Epub 2009 Oct 16. Neurol Sci. 2010. PMID: 19834644

6

Expanding the mutational spectrum associated to neural tube defects: literature revision and description of novel VANGL1 mutations.

Merello E, Mascelli S, Raso A, Piatelli G, Consales A, Cama A, Kibar Z, Capra V, Marco PD. Merello E, et al. Among authors: capra v. Birth Defects Res A Clin Mol Teratol. 2015 Jan;103(1):51-61. doi: 10.1002/bdra.23305. Epub 2014 Sep 10. Birth Defects Res A Clin Mol Teratol. 2015. PMID: 25208524

7

Periventricular nodular heterotopia in Smith-Magenis syndrome.

Capra V, Biancheri R, Morana G, Striano P, Novara F, Ferrero GB, Boeri L, Celle ME, Mancardi MM, Zuffardi O, Parrini E, Guerrini R. Capra V, et al. Am J Med Genet A. 2014 Dec;164A(12):3142-7. doi: 10.1002/ajmg.a.36742. Epub 2014 Sep 24. Am J Med Genet A. 2014. PMID: 25257626

8

Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition?

Accogli A, Pacetti M, Fiaschi P, Pavanello M, Piatelli G, Nuzzi D, Baldi M, Tassano E, Severino MS, Allegri A, Capra V. Accogli A, et al. Among authors: capra v. Am J Med Genet A. 2015 Mar;167A(3):646-52. doi: 10.1002/ajmg.a.36933. Am J Med Genet A. 2015. PMID: 25691418 Review.

9

Expanding the spectrum of congenital anomalies of the diencephalic-mesencephalic junction.

Severino M, Tortora D, Pistorio A, Ramenghi LA, Napoli F, Mancardi MM, Striano P, Capra V, Rossi A. Severino M, et al. Among authors: capra v. Neuroradiology. 2016 Jan;58(1):33-44. doi: 10.1007/s00234-015-1601-x. Epub 2015 Oct 7. Neuroradiology. 2016. PMID: 26446148

10

Interstitial 9p24.3 deletion involving only DOCK8 and KANK1 genes in two patients with non-overlapping phenotypic traits.

Tassano E, Accogli A, Pavanello M, Bruno C, Capra V, Gimelli G, Cuoco C. Tassano E, et al. Among authors: capra v. Eur J Med Genet. 2016 Jan;59(1):20-5. doi: 10.1016/j.ejmg.2015.11.011. Epub 2015 Dec 2. Eur J Med Genet. 2016. PMID: 26656975

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