Volpini V - Search Results

1

High prevalence of the C634Y mutation in the RET proto-oncogene in MEN 2A families in Spain.

Sánchez B, Robledo M, Biarnes J, Sáez ME, Volpini V, Benítez J, Navarro E, Ruiz A, Antiñolo G, Borrego S. Sánchez B, et al. Among authors: volpini v. J Med Genet. 1999 Jan;36(1):68-70. J Med Genet. 1999. PMID: 9950371 Free PMC article.

2

[The molecular pathology of RET protooncogene in families with multiple endocrine neoplasia type 2A].

Biarnés J, Miranda M, Corral J, Gabau E, Matías-Guiu X, Matilla A, Soler J, Estivill X, Volpini V. Biarnés J, et al. Among authors: volpini v. Med Clin (Barc). 1996 Sep 21;107(9):321-5. Med Clin (Barc). 1996. PMID: 8984233 Spanish.

3

Neuromas and prominent corneal nerves without MEN 2B.

Gómez JM, Biarnés J, Volpini V, Martí T. Gómez JM, et al. Among authors: volpini v. Ann Endocrinol (Paris). 1998;59(6):492-4. Ann Endocrinol (Paris). 1998. PMID: 10189992

4

Inherited susceptibility to several cancers but absence of linkage between dysplastic nevus syndrome and CDKN2A in a melanoma family with a mutation in the CDKN2A (P16INK4A) gene.

Puig S, Ruiz A, Castel T, Volpini V, Malvehy J, Cardellach F, Lynch M, Mascaro JM, Estivill X. Puig S, et al. Among authors: volpini v. Hum Genet. 1997 Dec;101(3):359-64. doi: 10.1007/s004390050642. Hum Genet. 1997. PMID: 9439668

5

Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome.

Fillat C, Español T, Oset M, Ferrando M, Estivill X, Volpini V. Fillat C, et al. Among authors: volpini v. Am J Med Genet. 2001 Apr 22;100(2):116-21. doi: 10.1002/ajmg.1228. Am J Med Genet. 2001. PMID: 11298372

6

Mutation and linkage disequilibrium analysis in genetic counselling of Spanish cystic fibrosis families.

Casals T, Nunes V, Lázaro C, Giménez FJ, Girbau E, Volpini V, Estivill X. Casals T, et al. Among authors: volpini v. J Med Genet. 1991 Nov;28(11):771-6. doi: 10.1136/jmg.28.11.771. J Med Genet. 1991. PMID: 1770534 Free PMC article.

7

Linkage analysis in Spanish families with nonspecific X-linked mental retardation: Significant linkage at Xq13-q21.

Badenas C, Castellví-Bel S, Volpini V, Jiménez D, Sánchez A, Estivill X, Milà M. Badenas C, et al. Among authors: volpini v. Am J Med Genet. 2001 Feb 1;98(4):343-7. doi: 10.1002/1096-8628(20010201)98:4<343::aid-ajmg1107>3.0.co;2-v. Am J Med Genet. 2001. PMID: 11170079

8

DMD carrier detection in a female with mosaic Turner's syndrome.

Baiget M, Tizzano E, Volpini V, del Rio E, Pérez-Vidal T, Gallano P. Baiget M, et al. Among authors: volpini v. J Med Genet. 1991 Mar;28(3):209-10. doi: 10.1136/jmg.28.3.209. J Med Genet. 1991. PMID: 2051460 Free PMC article. No abstract available.

9

Molecular analysis of the (CGG)n expansion in the FMR-1 gene in 59 Spanish fragile X syndrome families.

Milà M, Kruyer H, Glover G, Sánchez A, Carbonell P, Castellví-Bell S, Volpini V, Rossell J, Gabarrón J, López I, et al. Milà M, et al. Among authors: volpini v. Hum Genet. 1994 Oct;94(4):395-400. doi: 10.1007/BF00201600. Hum Genet. 1994. PMID: 7927336

10

Phenotypic spectrum of MFN2 mutations in the Spanish population.

Casasnovas C, Banchs I, Cassereau J, Gueguen N, Chevrollier A, Martínez-Matos JA, Bonneau D, Volpini V. Casasnovas C, et al. Among authors: volpini v. J Med Genet. 2010 Apr;47(4):249-56. doi: 10.1136/jmg.2009.072488. Epub 2009 Nov 3. J Med Genet. 2010. PMID: 19889647

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