Martínez-Frías ML - Search Results

1

Probable identity-by-descent for a mutation in the Dyggve-Melchior-Clausen/Smith-McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain.

Pogue R, Ehtesham N, Repetto GM, Carrero-Valenzuela R, de Casella CB, de Pons SP, Martínez-Frías ML, Heuertz S, Cormier-Daire V, Cohn DH. Pogue R, et al. Am J Med Genet A. 2005 Sep 15;138(1):75-8. doi: 10.1002/ajmg.a.30912. Am J Med Genet A. 2005. PMID: 16097008 No abstract available.

2

[Dyggve-Melchior-Clausen syndrome: presentation of a case with a mutation of possible Spanish origin].

Martínez-Frías ML, Cormier-Daire V, Cohn DH, Mendioroz J, Bermejo E, Mansilla E. Martínez-Frías ML, et al. Med Clin (Barc). 2007 Feb 3;128(4):137-40. doi: 10.1157/13098019. Med Clin (Barc). 2007. PMID: 17288936 Review. Spanish.

3

New findings in craniofacial dyssynostosis.

Bermejo E, Lapunzina P, Galán E, Félix V, Soler V, Martínez-Frias ML. Bermejo E, et al. Am J Med Genet A. 2005 Apr 30;134(3):344-5. doi: 10.1002/ajmg.a.30632. Am J Med Genet A. 2005. PMID: 15723305 No abstract available.

4

Sensorineural deafness, abnormal genitalia, synostosis of metacarpals and metatarsals 4 and 5, and mental retardation: description of a second patient and exclusion of HOXD13.

Mendioroz J, Fernández-Toral J, Suárez E, López-Grondona F, Kjaer KW, Bermejo E, Martínez-Frías ML. Mendioroz J, et al. Am J Med Genet A. 2005 Jun 1;135(2):211-3. doi: 10.1002/ajmg.a.30728. Am J Med Genet A. 2005. PMID: 15887301

5

Growth deficiency, facial anomalies, and brachydactyly (Frías syndrome): a second family.

Martínez-Frías ML, Toral JF, López-Grondona F, Mendioroz J, Bermejo E. Martínez-Frías ML, et al. Am J Med Genet A. 2005 Sep 1;137A(3):288-91. doi: 10.1002/ajmg.a.30875. Am J Med Genet A. 2005. PMID: 16088912

6

The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): a description of a second case.

Rodríguez L, Zollino M, Climent S, Mansilla E, López-Grondona F, Martínez-Fernández ML, Murdolo M, Martínez-Frías ML. Rodríguez L, et al. Am J Med Genet A. 2005 Jul 15;136(2):175-8. doi: 10.1002/ajmg.a.30775. Am J Med Genet A. 2005. PMID: 15948183

7

A new case of fibrochondrogenesis from Spain.

Martínez-Frías ML, García A, Cuevas J, Rodríguez JI, Urioste M. Martínez-Frías ML, et al. J Med Genet. 1996 May;33(5):429-31. doi: 10.1136/jmg.33.5.429. J Med Genet. 1996. PMID: 8733059 Free PMC article.

8

It is necessary to perform high-resolution band chromosomes in any child with malformations, before making a diagnosis or establishing a possible relationship with any risk factor.

Martínez-Frías ML, Rodríguez L, Bermejo E, López F, Rodríguez-Pinilla E. Martínez-Frías ML, et al. Am J Med Genet. 2001 Jun 1;101(1):80-1. doi: 10.1002/ajmg.1299. Am J Med Genet. 2001. PMID: 11343346 No abstract available.

9

Bartsocas-Papas syndrome: three familial cases from Spain.

Martínez-Frías ML, Frías JL, Vazquez I, Fernández J. Martínez-Frías ML, et al. Am J Med Genet. 1991 Apr 1;39(1):34-7. doi: 10.1002/ajmg.1320390109. Am J Med Genet. 1991. PMID: 1867261

10

Delineation of the clinically recognizable 17q22 contiguous gene deletion syndrome in a patient carrying the smallest microdeletion known to date.

Martínez-Fernández ML, Fernández-Toral J, Llano-Rivas I, Bermejo-Sánchez E, MacDonald A, Martínez-Frías ML. Martínez-Fernández ML, et al. Among authors: martinez frias ml. Am J Med Genet A. 2015 Sep;167A(9):2034-41. doi: 10.1002/ajmg.a.37117. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25899082

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