Urioste M - Search Results

1

Giant-cell chondrodysplasia in a male infant with clinical and radiological findings resembling the Piepkorn type of lethal osteochondrodysplasia.

Urioste M, Rodríguez JI, Bofarull JM, Torán N, Ferrer C, Villa A. Urioste M, et al. Am J Med Genet. 1997 Jan 31;68(3):342-6. Am J Med Genet. 1997. PMID: 9024569

2

De novo interstitial deletion q16.2q21 on chromosome 6.

Villa A, Urioste M, Bofarull JM, Martínez-Frías ML. Villa A, et al. Among authors: urioste m. Am J Med Genet. 1995 Jan 30;55(3):379-83. doi: 10.1002/ajmg.1320550326. Am J Med Genet. 1995. PMID: 7726240 Review.

3

A new case of fibrochondrogenesis from Spain.

Martínez-Frías ML, García A, Cuevas J, Rodríguez JI, Urioste M. Martínez-Frías ML, et al. Among authors: urioste m. 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.

4

Anencephaly and limb deficiencies.

Rodríguez JI, Rodríguez-Peralto JL, Muro M, Urioste M, Palacios J. Rodríguez JI, et al. Among authors: urioste m. Am J Med Genet. 1992 Sep 1;44(1):66-71. doi: 10.1002/ajmg.1320440116. Am J Med Genet. 1992. PMID: 1519654

5

New acrofacial dysostosis syndrome in 3 sibs.

Rodríguez JI, Palacios J, Urioste M. Rodríguez JI, et al. Among authors: urioste m. Am J Med Genet. 1990 Apr;35(4):484-9. doi: 10.1002/ajmg.1320350408. Am J Med Genet. 1990. PMID: 2333875

6

Short rib-polydactyly syndrome and pericentric inversion of chromosome 4.

Urioste M, Martínez-Frías ML, Bermejo E, Jiménez N, Romero D, Nieto C, Villa A. Urioste M, et al. Am J Med Genet. 1994 Jan 1;49(1):94-7. doi: 10.1002/ajmg.1320490118. Am J Med Genet. 1994. PMID: 7909650

7

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

8

Persistence of müllerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly, renal and craniofacial anomalies.

Urioste M, Rodríguez JI, Barcia JM, Martín M, Escribá R, Pardo M, Camino J, Martínez-Frías ML. Urioste M, et al. Am J Med Genet. 1993 Sep 15;47(4):494-503. doi: 10.1002/ajmg.1320470413. Am J Med Genet. 1993. PMID: 8256813

9

Distal deletion of chromosome 13 in a child with the "opitz" GBBB syndrome.

Urioste M, Arroyo I, Villa A, Lorda-Sánchez I, Barrio R, López-Cuesta MJ, Rueda J. Urioste M, et al. Am J Med Genet. 1995 Oct 23;59(1):114-22. doi: 10.1002/ajmg.1320590123. Am J Med Genet. 1995. PMID: 8849002

10

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. Among authors: urioste m. Am J Med Genet. 1997 Feb 11;68(4):481-4. Am J Med Genet. 1997. PMID: 9021026 Review.

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