Genís D - Search Results

1

Polymorphisms at 13 expressed human sequences containing CAG/CTG repeats and analysis in autosomal dominant cerebellar ataxia (ADCA) patients.

Pujana MA, Gratacós M, Corral J, Banchs I, Sánchez A, Genís D, Cervera C, Volpini V, Estivill X. Pujana MA, et al. Among authors: genis d. Hum Genet. 1997 Nov;101(1):18-21. doi: 10.1007/s004390050578. Hum Genet. 1997. PMID: 9385362

2

Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias.

Matilla T, Volpini V, Genís D, Rosell J, Corral J, Dávalos A, Molins A, Estivill X. Matilla T, et al. Among authors: genis d. Hum Mol Genet. 1993 Dec;2(12):2123-8. doi: 10.1093/hmg/2.12.2123. Hum Mol Genet. 1993. PMID: 8111382

3

Uncloned expanded CAG/CTG repeat sequences in autosomal dominant cerebellar ataxia (ADCA) detected by the repeat expansion detection (RED) method.

Pujana MA, Volpini V, Gratacós M, Corral J, Banchs I, Sánchez A, Genís D, Cervera C, Estivill X. Pujana MA, et al. Among authors: genis d. J Med Genet. 1998 Feb;35(2):99-102. doi: 10.1136/jmg.35.2.99. J Med Genet. 1998. PMID: 9507387 Free PMC article.

4

Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group.

Pujana MA, Corral J, Gratacòs M, Combarros O, Berciano J, Genís D, Banchs I, Estivill X, Volpini V. Pujana MA, et al. Among authors: genis d. Hum Genet. 1999 Jun;104(6):516-22. doi: 10.1007/s004390050997. Hum Genet. 1999. PMID: 10453742

5

Giant SCA8 alleles in nine children whose mother has two moderately large ones.

Corral J, Genís D, Banchs I, San Nicolás H, Armstrong J, Volpini V. Corral J, et al. Among authors: genis d. Ann Neurol. 2005 Apr;57(4):549-53. doi: 10.1002/ana.20421. Ann Neurol. 2005. PMID: 15786481

6

Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred: (CAG)n expansion and early premonitory signs and symptoms.

Genis D, Matilla T, Volpini V, Rosell J, Dávalos A, Ferrer I, Molins A, Estivill X. Genis D, et al. Neurology. 1995 Jan;45(1):24-30. doi: 10.1212/wnl.45.1.24. Neurology. 1995. PMID: 7824128 Free article.

7

Huntington's disease: confirmation of diagnosis and presymptomatic testing in Spanish families by genetic analysis.

Sánchez A, Castellví-Bel S, Milà M, Genis D, Calopa M, Jiménez D, Estivill X. Sánchez A, et al. Among authors: genis d. J Neurol Neurosurg Psychiatry. 1996 Dec;61(6):625-7. doi: 10.1136/jnnp.61.6.625. J Neurol Neurosurg Psychiatry. 1996. PMID: 8971113 Free PMC article.

8

Sporadic heteroplasmic single 5.5 kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiency.

Barrientos A, Casademont J, Genís D, Cardellach F, Fernández-Real JM, Grau JM, Urbano-Márquez A, Estivill X, Nunes V. Barrientos A, et al. Among authors: genis d. Hum Mutat. 1997;10(3):212-6. doi: 10.1002/(SICI)1098-1004(1997)10:3<212::AID-HUMU6>3.0.CO;2-K. Hum Mutat. 1997. PMID: 9298821

9

[Molecular analysis of the IT15 gene in 79 Spanish families with Huntington's disease: diagnostic confirmation and presymptomatic diagnosis].

Sánchez A, Milà M, Castellví-Bel S, Calopa M, Genís D, Jiménez D, Estivill X. Sánchez A, et al. Among authors: genis d. Med Clin (Barc). 1997 May 10;108(18):687-90. Med Clin (Barc). 1997. PMID: 9324583 Spanish.

10

A kindred with cerebellar ataxia and thermoanalgesia.

Genis D, Ferrer I, Solé JV, Corral J, Volpini V, San Nicolás H, Gich J, Ramió-Torrentà L, Ferrándiz M, Puig J, Márquez F. Genis D, et al. J Neurol Neurosurg Psychiatry. 2009 May;80(5):518-23. doi: 10.1136/jnnp.2008.151548. Epub 2008 Aug 18. J Neurol Neurosurg Psychiatry. 2009. PMID: 18710877

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