Alonso J - Search Results

1

New RB1 oncogenic mutations and intronic polymorphisms in Serbian retinoblastoma patients: genetic counseling implications.

Kontic M, Palacios I, Gámez Á, Camino I, Latkovic Z, Rasic D, Krstic V, Bunjevacki V, Alonso J, Pestaña Á. Kontic M, et al. Among authors: alonso j. J Hum Genet. 2006;51(10):909-913. doi: 10.1007/s10038-006-0036-y. Epub 2006 Sep 14. J Hum Genet. 2006. PMID: 16972022

2

Two new mutations and three novel polymorphisms in the RB1 gene in Ecuadorian patients.

Leone PE, Vega ME, Jervis P, Pestaña A, Alonso J, Paz-Y-Miño C. Leone PE, et al. Among authors: alonso j. J Hum Genet. 2003;48(12):639-641. doi: 10.1007/s10038-003-0092-5. Epub 2003 Nov 19. J Hum Genet. 2003. PMID: 14625809

3

Two independent RB1-inactivating mutations in peripheral blood DNA of a hereditary retinoblastoma patient.

Alonso J, Menéndez I, López A, Frayle H, Ruisánchez N, Pestaña A. Alonso J, et al. Genes Chromosomes Cancer. 2004 Jul;40(3):271-5. doi: 10.1002/gcc.20042. Genes Chromosomes Cancer. 2004. PMID: 15139006

4

Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients.

Alonso J, Frayle H, Menéndez I, López A, García-Miguel P, Abelairas J, Sarret E, Vendrell MT, Navajas A, Artigas M, Indiano JM, Carbone A, Torrenteras C, Palacios I, Pestaña A. Alonso J, et al. Hum Mutat. 2005 Jan;25(1):99. doi: 10.1002/humu.9299. Hum Mutat. 2005. PMID: 15605413

5

RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database.

Valverde JR, Alonso J, Palacios I, Pestaña A. Valverde JR, et al. Among authors: alonso j. BMC Genet. 2005 Nov 4;6:53. doi: 10.1186/1471-2156-6-53. BMC Genet. 2005. PMID: 16269091 Free PMC article.

6

[Molecular diagnosis of retinoblastoma: molecular epidemiology and genetic counseling].

Alonso J, Palacios I, Gámez A, Camino I, Frayle H, Menéndez I, Kontic M, García-Miguel P, Sastre A, Abelairas J, Sarret E, Sabado C, Navajas A, Artigas M, Indiano JM, Carbone A, Rosell J, Pestaña A. Alonso J, et al. Med Clin (Barc). 2006 Mar 25;126(11):401-5. doi: 10.1157/13086125. Med Clin (Barc). 2006. PMID: 16595082 Spanish.

7

Pathogenic validation of unique germline intronic variants of RB1 in retinoblastoma patients using minigenes.

Gámez-Pozo A, Palacios I, Kontic M, Menéndez I, Camino I, García-Miguel P, Abelairas J, Pestaña A, Alonso J. Gámez-Pozo A, et al. Among authors: alonso j. Hum Mutat. 2007 Dec;28(12):1245. doi: 10.1002/humu.9512. Hum Mutat. 2007. PMID: 18000883

8

Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients: Phenotypic and molecular epidemiological implications.

Alonso J, García-Miguel P, Abelairas J, Mendiola M, Sarret E, Vendrell MT, Navajas A, Pestaña A. Alonso J, et al. Hum Mutat. 2001 May;17(5):412-22. doi: 10.1002/humu.1117. Hum Mutat. 2001. PMID: 11317357

9

Linkage analysis and detection of somatic, postzygous RB1 mutations in Serbian retinoblastoma patients.

Kontic M, Palacios I, Kontic M, Alonso J, Pestana A. Kontic M, et al. Among authors: alonso j. J BUON. 2011 Jan-Mar;16(1):142-6. J BUON. 2011. PMID: 21674866

10

A novel complex mutation in exon 8 of RB1 in a case of isolated bilateral retinoblastoma.

Alonso J, García-Miguel P, Abelairas J, Pestaña A. Alonso J, et al. Hum Mutat. 2000 Jun;15(6):583. doi: 10.1002/1098-1004(200006)15:6<583::AID-HUMU22>3.0.CO;2-2. Hum Mutat. 2000. PMID: 10862099 No abstract available.

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