Martínez-Garay I - Search Results

1

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. Am J Med Genet. 2001 Aug 1;102(2):200-4. doi: 10.1002/ajmg.1416. Am J Med Genet. 2001. PMID: 11477616

2

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. 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

3

A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.

Martínez-Garay I, Tomás M, Oltra S, Ramser J, Moltó MD, Prieto F, Meindl A, Kutsche K, Martínez F. Martínez-Garay I, et al. Eur J Hum Genet. 2007 Jan;15(1):29-34. doi: 10.1038/sj.ejhg.5201717. Epub 2006 Oct 11. Eur J Hum Genet. 2007. PMID: 17033686

4

Screening for microdeletions of the X-chromosome in non-specific mental retardation.

Martínez F, Oltra S, Berges M, Orellana C, Prieto F, Martínez-Garay I, Moltó MD. Martínez F, et al. Am J Med Genet A. 2004 Jan 1;124A(1):99-101. doi: 10.1002/ajmg.a.20398. Am J Med Genet A. 2004. PMID: 14679596 No abstract available.

5

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. Clin Genet. 2003 Dec;64(6):491-6. doi: 10.1046/j.1399-0004.2003.00166.x. Clin Genet. 2003. PMID: 14986828

6

[Subtelomeric deletion 9qter: definition of the syndrome and parental origin in 2 patients].

Roselló M, Monfort S, Orellana C, Oltra S, Martínez Garay I, Martínez F. Roselló M, et al. Med Clin (Barc). 2007 Mar 24;128(11):419-21. doi: 10.1157/13100343. Med Clin (Barc). 2007. PMID: 17394858 Spanish.

7

Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum.

Orellana C, Bernabeu J, Monfort S, Roselló M, Oltra S, Ferrer I, Quiroga R, Martínez-Garay I, Martínez F. Orellana C, et al. J Med Genet. 2008 Mar;45(3):187-9. doi: 10.1136/jmg.2007.054064. J Med Genet. 2008. PMID: 18310268 No abstract available.

8

Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum.

Orellana C, Bernabeu J, Monfort S, Rosello M, Oltra JS, Ferrer I, Quiroga R, Martinez-Garay I, Martinez F. Orellana C, et al. BMJ Case Rep. 2009;2009:bcr08.2008.0665. doi: 10.1136/bcr.08.2008.0665. Epub 2009 Jan 23. BMJ Case Rep. 2009. PMID: 21686693 Free PMC article.

9

Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum.

Orellana C, Bernabeu J, Monfort S, Roselló M, Oltra S, Ferrer I, Quiroga R, Martínez-Garay I, Martínez F. Orellana C, et al. BMJ Case Rep. 2009;2009:bcr06.2009.1996. doi: 10.1136/bcr.06.2009.1996. Epub 2009 Jul 5. BMJ Case Rep. 2009. PMID: 21731584 Free PMC article.

10

The novel centrosomal associated protein CEP55 is present in the spindle midzone and the midbody.

Martinez-Garay I, Rustom A, Gerdes HH, Kutsche K. Martinez-Garay I, et al. Genomics. 2006 Feb;87(2):243-53. doi: 10.1016/j.ygeno.2005.11.006. Epub 2006 Jan 10. Genomics. 2006. PMID: 16406728 Free article.

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