Martínez F - Search Results

1

A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism.

D Hidalgo-Santos A, Del Carmen DeMingo-Alemany M, Moreno-Macián F, Roselló M, Orellana C, Martínez F, Caro-Llopis A, León-Cariñena S, Tomás-Vila M. D Hidalgo-Santos A, et al. Among authors: martinez f. Int J Endocrinol Metab. 2018 Jul 1;16(3):e67329. doi: 10.5812/ijem.67329. eCollection 2018 Jul. Int J Endocrinol Metab. 2018. PMID: 30323850 Free PMC article.

2

Pediatric brain tumors: loss of heterozygosity at 17p and TP53 gene mutations.

Orellana C, Hernandez-Martí M, Martínez F, Castel V, Millán JM, Alvarez-Garijo JA, Prieto F, Badía L. Orellana C, et al. Among authors: martinez f. Cancer Genet Cytogenet. 1998 Apr 15;102(2):93-9. doi: 10.1016/s0165-4608(97)00343-9. Cancer Genet Cytogenet. 1998. PMID: 9546059

3

A novel TP53 germ-line mutation identified in a girl with a primitive neuroectodermal tumor and her father.

Orellana C, Martínez F, Hernandez-Marti M, Castel V, Cañete A, Prieto F, Badía L. Orellana C, et al. Among authors: martinez f. Cancer Genet Cytogenet. 1998 Sep;105(2):103-8. doi: 10.1016/s0165-4608(98)00015-6. Cancer Genet Cytogenet. 1998. PMID: 9723024

4

[Multiple endocrine neoplasia type 1: genetic study of a large family].

Orellana C, Palasí R, Martínez F, Ponce JL, Gil Sanz J, Sancho Fornos S, Prieto F. Orellana C, et al. Among authors: martinez f. Med Clin (Barc). 1999 Mar 6;112(8):299-302. Med Clin (Barc). 1999. PMID: 10207847 Spanish.

5

Localization of non-specific X-linked mental retardation gene (MRX73) to Xp22.2.

Martínez F, Martínez-Garay I, Millán JM, Pérez-Aytes A, Moltó MD, Orellana C, Prieto F. Martínez F, et al. Among authors: martinez garay i. Am J Med Genet. 2001 Aug 1;102(2):200-4. doi: 10.1002/ajmg.1416. Am J Med Genet. 2001. PMID: 11477616

6

Trisomy rescue by postzygotic unbalanced (X;14) translocation in a girl with dysmorphic features.

Orellana C, Martínez F, Badía L, Millán JM, Montero MR, Andrés J, Prieto F. Orellana C, et al. Among authors: martinez f. Clin Genet. 2001 Sep;60(3):206-11. doi: 10.1034/j.1399-0004.2001.600306.x. Clin Genet. 2001. PMID: 11595022

7

Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome.

Martínez-Garay I, Ballesta MJ, Oltra S, Orellana C, Palomeque A, Moltó MD, Prieto F, Martínez F. Martínez-Garay I, et al. Among authors: martinez f. Clin Genet. 2003 Dec;64(6):491-6. doi: 10.1046/j.1399-0004.2003.00166.x. Clin Genet. 2003. PMID: 14986828

8

Minimal residual disease in neuroblastoma: to GAGE or not to GAGE.

Oltra S, Martínez F, Orellana C, Grau E, Fernández JM, Cañete A, Castel V. Oltra S, et al. Among authors: martinez f. Oncol Res. 2004;14(6):291-5. doi: 10.3727/096504003773994824. Oncol Res. 2004. PMID: 15206491

9

Localization of MRX82: a new nonsyndromic X-linked mental retardation locus to Xq24-q25 in a Basque family.

Martínez F, Martínez-Garay I, Oltra S, Moltó MD, Orellana C, Monfort S, Prieto F, Tejada I. Martínez F, et al. Among authors: martinez garay i. Am J Med Genet A. 2004 Dec 1;131(2):174-8. doi: 10.1002/ajmg.a.30352. Am J Med Genet A. 2004. PMID: 15526294

10

The doublecortin gene, a new molecular marker to detect minimal residual disease in neuroblastoma.

Oltra S, Martinez F, Orellana C, Grau E, Fernandez JM, Cañete A, Castel V. Oltra S, et al. Among authors: martinez f. Diagn Mol Pathol. 2005 Mar;14(1):53-7. doi: 10.1097/01.pas.0000149876.32376.c0. Diagn Mol Pathol. 2005. PMID: 15714065 Clinical Trial.

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