Rosell J - Search Results

1

TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis.

Santín S, Ars E, Rossetti S, Salido E, Silva I, García-Maset R, Giménez I, Ruíz P, Mendizábal S, Luciano Nieto J, Peña A, Camacho JA, Fraga G, Cobo MA, Bernis C, Ortiz A, de Pablos AL, Sánchez-Moreno A, Pintos G, Mirapeix E, Fernández-Llama P, Ballarín J, Torra R; FSGS Study Group; Zamora I, López-Hellin J, Madrid A, Ventura C, Vilalta R, Espinosa L, García C, Melgosa M, Navarro M, Giménez A, Cots JV, Alexandra S, Caramelo C, Egido J, San José MD, de la Cerda F, Sala P, Raspall F, Vila A, Daza AM, Vázquez M, Ecija JL, Espinosa M, Justa ML, Poveda R, Aparicio C, Rosell J, Muley R, Montenegro J, González D, Hidalgo E, de Frutos DB, Trillo E, Gracia S, de los Ríos FJ. Santín S, et al. Among authors: rosell j. Nephrol Dial Transplant. 2009 Oct;24(10):3089-96. doi: 10.1093/ndt/gfp229. Epub 2009 May 20. Nephrol Dial Transplant. 2009. PMID: 19458060

2

Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.

Santín S, Tazón-Vega B, Silva I, Cobo MÁ, Giménez I, Ruíz P, García-Maset R, Ballarín J, Torra R, Ars E; FSGS Spanish Study Group. Santín S, et al. Clin J Am Soc Nephrol. 2011 Feb;6(2):344-54. doi: 10.2215/CJN.03770410. Epub 2010 Oct 14. Clin J Am Soc Nephrol. 2011. PMID: 20947785 Free PMC article.

3

A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene.

Ars E, Kruyer H, Gaona A, Casquero P, Rosell J, Volpini V, Serra E, Lázaro C, Estivill X. Ars E, et al. Among authors: rosell j. Am J Hum Genet. 1998 Apr;62(4):834-41. doi: 10.1086/301803. Am J Hum Genet. 1998. PMID: 9529361 Free PMC article.

4

F8 gene dosage defects in atypical patients with severe haemophilia A.

Venceslá Á, Baena M, Garrido RP, Núñez R, Velasco F, Rosell J, Villar A, Jiménez-Yuste V, Baiget M, Tizzano EF. Venceslá Á, et al. Among authors: rosell j. Haemophilia. 2012 Sep;18(5):708-13. doi: 10.1111/j.1365-2516.2012.02818.x. Epub 2012 May 23. Haemophilia. 2012. PMID: 22621702

5

Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.

Alvarez V, Sánchez-Ferrero E, Beetz C, Díaz M, Alonso B, Corao AI, Gámez J, Esteban J, Gonzalo JF, Pascual-Pascual SI, López de Munain A, Moris G, Ribacoba R, Márquez C, Rosell J, Marín R, García-Barcina MJ, Del Castillo E, Benito C, Coto E; Group for the Study of the Genetics of Spastic Paraplegia. Alvarez V, et al. Among authors: rosell j. BMC Neurol. 2010 Oct 8;10:89. doi: 10.1186/1471-2377-10-89. BMC Neurol. 2010. PMID: 20932283 Free PMC article.

6

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: rosell j. Hum Mol Genet. 1993 Dec;2(12):2123-8. doi: 10.1093/hmg/2.12.2123. Hum Mol Genet. 1993. PMID: 8111382

7

Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry.

Alonso MJ, Heine-Suñer D, Calvo M, Rosell J, Giménez J, Ramos MD, Telleria JJ, Palacio A, Estivill X, Casals T. Alonso MJ, et al. Among authors: rosell j. Ann Hum Genet. 2007 Mar;71(Pt 2):194-201. doi: 10.1111/j.1469-1809.2006.00310.x. Ann Hum Genet. 2007. PMID: 17331079

8

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. Among authors: rosell j. Neurology. 1995 Jan;45(1):24-30. doi: 10.1212/wnl.45.1.24. Neurology. 1995. PMID: 7824128 Free article.

9

Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations.

Ballana E, Govea N, de Cid R, Garcia C, Arribas C, Rosell J, Estivill X. Ballana E, et al. Among authors: rosell j. Hum Mutat. 2008 Feb;29(2):248-57. doi: 10.1002/humu.20639. Hum Mutat. 2008. PMID: 17999439

10

BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1.

Brunet A, Armengol L, Heine D, Rosell J, García-Aragonés M, Gabau E, Estivill X, Guitart M. Brunet A, et al. Among authors: rosell j. BMC Med Genet. 2009 Dec 23;10:144. doi: 10.1186/1471-2350-10-144. BMC Med Genet. 2009. PMID: 20030804 Free PMC article.

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