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[Early diagnosis of retinoblastoma: usefulness of searching for RB1 gene mutations].
Nájera C, Sánchez F, Mateu E, Prieto F, Beneyto M. Nájera C, et al. Med Clin (Barc). 2001 Mar 17;116(10):365-72. doi: 10.1016/s0025-7753(01)71832-5. Med Clin (Barc). 2001. PMID: 11333669 Spanish.
Genetics of retinoblastoma: a study.
Mateu E, Sánchez F, Nájera C, Beneyto M, Castell V, Hernández M, Serra I, Prieto F. Mateu E, et al. Cancer Genet Cytogenet. 1997 May;95(1):40-50. doi: 10.1016/s0165-4608(96)00387-1. Cancer Genet Cytogenet. 1997. PMID: 9140452
Can a place of origin of the main cystic fibrosis mutations be identified?
Mateu E, Calafell F, Ramos MD, Casals T, Bertranpetit J. Mateu E, et al. Am J Hum Genet. 2002 Jan;70(1):257-64. doi: 10.1086/338243. Epub 2001 Nov 16. Am J Hum Genet. 2002. PMID: 11713719 Free PMC article.
PKLR- GBA region shows almost complete linkage disequilibrium over 70 kb in a set of worldwide populations.
Mateu E, Pérez-Lezaun A, Martínez-Arias R, Andrés A, Vallés M, Bertranpetit J, Calafell F. Mateu E, et al. Hum Genet. 2002 Jun;110(6):532-44. doi: 10.1007/s00439-002-0734-2. Epub 2002 May 22. Hum Genet. 2002. PMID: 12107439
Microsatellite variation and the differentiation of modern humans.
Pérez-Lezaun A, Calafell F, Mateu E, Comas D, Ruiz-Pacheco R, Bertranpetit J. Pérez-Lezaun A, et al. Hum Genet. 1997 Jan;99(1):1-7. doi: 10.1007/s004390050299. Hum Genet. 1997. PMID: 9003483
Worldwide genetic analysis of the CFTR region.
Mateu E, Calafell F, Lao O, Bonné-Tamir B, Kidd JR, Pakstis A, Kidd KK, Bertranpetit J. Mateu E, et al. Am J Hum Genet. 2001 Jan;68(1):103-17. doi: 10.1086/316940. Epub 2000 Dec 4. Am J Hum Genet. 2001. PMID: 11104661 Free PMC article.
Spatial patterns of cystic fibrosis mutation spectra in European populations.
Lao O, Andrés AM, Mateu E, Bertranpetit J, Calafell F. Lao O, et al. Eur J Hum Genet. 2003 May;11(5):385-94. doi: 10.1038/sj.ejhg.5200970. Eur J Hum Genet. 2003. PMID: 12734544
Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2).
Beneyto MM, Cuevas JM, Millán JM, Espinós C, Mateu E, González-Cabo P, Baiget M, Doménech M, Bernal S, Ayuso C, García-Sandoval B, Trujillo MJ, Borrego S, Antiñolo G, Carballo M, Nájera C. Beneyto MM, et al. Ophthalmic Genet. 2000 Jun;21(2):123-8. Ophthalmic Genet. 2000. PMID: 10916187
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