Capra V - Search Results

1

A novel Xp22.13 microdeletion in Nance-Horan syndrome.

Accogli A, Traverso M, Madia F, Bellini T, Vari MS, Pinto F, Capra V. Accogli A, et al. Among authors: capra v. Birth Defects Res. 2017 Jul 3;109(11):866-868. doi: 10.1002/bdr2.1032. Epub 2017 May 2. Birth Defects Res. 2017. PMID: 28464487

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

Planar cell polarity gene mutations contribute to the etiology of human neural tube defects in our population.

De Marco P, Merello E, Piatelli G, Cama A, Kibar Z, Capra V. De Marco P, et al. Among authors: capra v. Birth Defects Res A Clin Mol Teratol. 2014 Aug;100(8):633-41. doi: 10.1002/bdra.23255. Epub 2014 May 17. Birth Defects Res A Clin Mol Teratol. 2014. PMID: 24838524 Review.

5

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

6

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.

7

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

8

Surgical results of cranioplasty with a polymethylmethacrylate customized cranial implant in pediatric patients: a single-center experience.

Fiaschi P, Pavanello M, Imperato A, Dallolio V, Accogli A, Capra V, Consales A, Cama A, Piatelli G. Fiaschi P, et al. Among authors: capra v. J Neurosurg Pediatr. 2016 Jun;17(6):705-10. doi: 10.3171/2015.10.PEDS15489. Epub 2016 Jan 29. J Neurosurg Pediatr. 2016. PMID: 26824593

9

Idiopathic Cervical Hematomyelia in an Infant: Spinal Cord Injury without Radiographic Abnormality Caused by a Trivial Trauma? Case Report and Review of the Literature.

Fiaschi P, Severino M, Ravegnani GM, Piatelli G, Consales A, Accogli A, Capra V, Cama A, Pavanello M. Fiaschi P, et al. Among authors: capra v. World Neurosurg. 2016 Jun;90:38-44. doi: 10.1016/j.wneu.2016.01.094. Epub 2016 Feb 16. World Neurosurg. 2016. PMID: 26899465 Review.

10

Beyond spinal muscular atrophy with lower extremity dominance: cerebellar hypoplasia associated with a novel mutation in BICD2.

Fiorillo C, Moro F, Brisca G, Accogli A, Trucco F, Trovato R, Pedemonte M, Severino M, Catala M, Capra V, Santorelli FM, Bruno C, Rossi A, Minetti C. Fiorillo C, et al. Among authors: capra v. Eur J Neurol. 2016 Apr;23(4):e19-21. doi: 10.1111/ene.12914. Eur J Neurol. 2016. PMID: 27000979 No abstract available.

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