Martinez-Frias ML - 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. Ann Genet. 1990;33(1):49-51. Ann Genet. 1990. PMID: 2195982 Review.

2

Partial monosomy 15q due to de novo t(15;22)(q15;p11).

Mori MA, Rodriguez L, Pinel I, Casas JM, Diaz de Bustamante A, Martinez-Frias ML. Mori MA, et al. Ann Genet. 1987;30(4):246-8. Ann Genet. 1987. PMID: 3322163 Review.

3

DK-phocomelia syndrome in a child with a long follow-up.

Urioste M, Paisán L, Martínez-Frías ML. Urioste M, et al. Am J Med Genet. 1994 Sep 1;52(3):269-71. doi: 10.1002/ajmg.1320520304. Am J Med Genet. 1994. PMID: 7810557 Review.

4

Segmentation anomalies of the vertebras and ribs: a developmental field defect: epidemiologic evidence.

Martínez-Frías ML, Urioste M. Martínez-Frías ML, et al. Am J Med Genet. 1994 Jan 1;49(1):36-44. doi: 10.1002/ajmg.1320490109. Am J Med Genet. 1994. PMID: 8172249 Review.

5

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

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

6

Dynamic mosaicism involving an unstable supernumerary der(22) chromosome in cat eye syndrome.

Urioste M, Visedo G, Sanchís A, Sentís C, Villa A, Ludeña P, Hortigüela JL, Martínez-Frías ML, Fernández-Piqueras J. Urioste M, et al. Am J Med Genet. 1994 Jan 1;49(1):77-82. doi: 10.1002/ajmg.1320490114. Am J Med Genet. 1994. PMID: 8172255

7

Lethal short rib-polydactyly syndromes: further evidence for their overlapping in a continuous spectrum.

Martínez-Frías ML, Bermejo E, Urioste M, Huertas H, Arroyo I. Martínez-Frías ML, et al. J Med Genet. 1993 Nov;30(11):937-41. doi: 10.1136/jmg.30.11.937. J Med Genet. 1993. PMID: 8301649 Free PMC article.

8

Tetrasomy 5p mosaicism due to an extra i(5p) in a severely affected girl.

Lorda-Sánchez I, Villa A, Urioste M, Bernal E, Jaso E, García A, Martínez-Frías ML. Lorda-Sánchez I, et al. Am J Med Genet. 1997 Feb 11;68(4):481-4. Am J Med Genet. 1997. PMID: 9021026 Review.

9

New case of limb body-wall complex associated with sirenomelia sequence.

Martínez-Frías ML, Cucalón F, Urioste M. Martínez-Frías ML, et al. Am J Med Genet. 1992 Nov 15;44(5):583-5. doi: 10.1002/ajmg.1320440510. Am J Med Genet. 1992. PMID: 1481813 No abstract available.

10

Campomelia, polycystic dysplasia, and cervical lymphocele in two sibs.

Urioste M, Arroyo A, Martínez-Frías ML. Urioste M, et al. Am J Med Genet. 1991 Dec 15;41(4):475-7. doi: 10.1002/ajmg.1320410419. Am J Med Genet. 1991. PMID: 1776641

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