Rosell J - Search Results

1

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.

2

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

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

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

5

Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain.

Tejada MI, Glover G, Martínez F, Guitart M, de Diego-Otero Y, Fernández-Carvajal I, Ramos FJ, Hernández-Chico C, Pintado E, Rosell J, Calvo MT, Ayuso C, Ramos-Arroyo MA, Maortua H, Milà M. Tejada MI, et al. Among authors: rosell j. Biomed Res Int. 2014;2014:195793. doi: 10.1155/2014/195793. Epub 2014 May 28. Biomed Res Int. 2014. PMID: 24987673 Free PMC article.

6

Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.

Nevado J, García-Miñaúr S, Palomares-Bralo M, Vallespín E, Guillén-Navarro E, Rosell J, Bel-Fenellós C, Mori MÁ, Milá M, Del Campo M, Barrúz P, Santos-Simarro F, Obregón G, Orellana C, Pachajoa H, Tenorio JA, Galán E, Cigudosa JC, Moresco A, Saleme C, Castillo S, Gabau E, Pérez-Jurado L, Barcia A, Martín MS, Mansilla E, Vallcorba I, García-Murillo P, Cammarata-Scalisi F, Gonçalves Pereira N, Blanco-Lago R, Serrano M, Ortigoza-Escobar JD, Gener B, Seidel VA, Tirado P, Lapunzina P; Spanish PMS Working Group. Nevado J, et al. Among authors: rosell j. Front Genet. 2022 Apr 12;13:652454. doi: 10.3389/fgene.2022.652454. eCollection 2022. Front Genet. 2022. PMID: 35495150 Free PMC article.

7

Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications.

Torres-Juan L, Rosell J, Sánchez-de-la-Torre M, Fibla J, Heine-Suñer D. Torres-Juan L, et al. Among authors: rosell j. BMC Med Genet. 2007 Apr 2;8:14. doi: 10.1186/1471-2350-8-14. BMC Med Genet. 2007. PMID: 17397557 Free PMC article.

8

Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion.

Fernández L, Lapunzina P, Pajares IL, Palomares M, Martínez I, Fernández B, Quero J, García-Guereta L, García-Alix A, Burgueros M, Galán-Gómez E, Carbonell-Pérez JM, Pérez-Granero A, Torres-Juan L, Heine-Suñer D, Rosell J, Delicado A. Fernández L, et al. Among authors: rosell j. Am J Med Genet A. 2008 May 1;146A(9):1134-41. doi: 10.1002/ajmg.a.32256. Am J Med Genet A. 2008. PMID: 18384142

9

Molecular, cytogenetic, and clinical characterisation of six XX males including one prenatal diagnosis.

Margarit E, Soler A, Carrió A, Oliva R, Costa D, Vendrell T, Rosell J, Ballesta F. Margarit E, et al. Among authors: rosell j. J Med Genet. 1998 Sep;35(9):727-30. doi: 10.1136/jmg.35.9.727. J Med Genet. 1998. PMID: 9733030 Free PMC article.

10

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

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