Gomar JL - Search Results

1

Diploid/tetraploid mosaicism in a stillborn infant with prune belly anomaly.

Urioste M, Pinel I, Gomar JL, Skinner C, Martinez-Frias ML. Urioste M, et al. Among authors: gomar jl. Ann Genet. 1990;33(1):49-51. Ann Genet. 1990. PMID: 2195982 Review.

2

New case of axial mesodermal dysplasia sequence: epidemiologic evidence of a single entity.

Martínez-Frías ML, Gomar JL. Martínez-Frías ML, et al. Among authors: gomar jl. Am J Med Genet. 1994 Jan 1;49(1):74-6. doi: 10.1002/ajmg.1320490113. Am J Med Genet. 1994. PMID: 8172254 Review.

3

Partial duplication 16p resulting from a 3:1 segregation of a maternal reciprocal translocation.

Mori MA, Gomar JL, Diaz de Bustamante A, Ananias A, Pinel I, Martinez-Frias ML. Mori MA, et al. Among authors: gomar jl. Am J Med Genet. 1987 Jan;26(1):203-6. doi: 10.1002/ajmg.1320260130. Am J Med Genet. 1987. PMID: 3812563

4

Endoreduplications in a family with a reciprocal translocation (9q;16p).

Pinel I, Urioste M, Martinez-Frias ML, Gomar JL. Pinel I, et al. Among authors: gomar jl. Clin Genet. 1990 Nov;38(5):399-400. Clin Genet. 1990. PMID: 2282723 No abstract available.

5

[Meningitis caused by Streptococcus pyogenes in a previously healthy girl].

Sánchez-Porto A, Skinner C, Gomar JL. Sánchez-Porto A, et al. Among authors: gomar jl. Enferm Infecc Microbiol Clin. 1997 Nov;15(9):501-2. Enferm Infecc Microbiol Clin. 1997. PMID: 9527384 Spanish. No abstract available.

6

Risk of hypospadias in newborn infants exposed to valproic acid during the first trimester of pregnancy: a case-control study in Spain.

Rodríguez-Pinilla E, Mejías C, Prieto-Merino D, Fernández P, Martínez-Frías ML; ECEMC Working Group. Rodríguez-Pinilla E, et al. Drug Saf. 2008;31(6):537-43. doi: 10.2165/00002018-200831060-00008. Drug Saf. 2008. PMID: 18484787

7

Leuconostoc bacteremia in a healthy infant.

Casanova-Román M, Rios J, Sánchez-Porto A, Gomar JL, Casanova-Bellido M. Casanova-Román M, et al. Among authors: gomar jl. Minerva Pediatr. 2003 Feb;55(1):83-6. Minerva Pediatr. 2003. PMID: 12660631

8

Early-onset neonatal sepsis due to Cellulosimicrobium cellulans.

Casanova-Román M, Sanchez-Porto A, Gomar JL, Casanova-Bellido M. Casanova-Román M, et al. Among authors: gomar jl. Infection. 2010 Aug;38(4):321-3. doi: 10.1007/s15010-010-0011-6. Epub 2010 Apr 8. Infection. 2010. PMID: 20376528

9

Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia.

Martínez-Frías ML, de Frutos CA, Bermejo E, Nieto MA; ECEMC Working Group. Martínez-Frías ML, et al. Am J Med Genet A. 2010 Jan;152A(1):245-55. doi: 10.1002/ajmg.a.33188. Am J Med Genet A. 2010. PMID: 20034074 Review.

10

[Analysis of the frequencies of genotype combinations of 4 polymorphisms of genes acting on the folate cycle in the Spanish population].

Martínez-Frías ML, Bermejo E, Pérez B, Desviat LR, Castro M, Leal F, Mansilla E, Martínez-Fernández ML, Rodríguez-Pinilla E, Rodríguez L, Ugarte M; Grupo de Trabajo del Estudio Colaborativo Español de Malformaciones Congénitas (ECEMC). Martínez-Frías ML, et al. Med Clin (Barc). 2008 Jun 21;131(3):81-8. doi: 10.1157/13124010. Med Clin (Barc). 2008. PMID: 18590621 Spanish.

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