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Items: 1 to 20 of 91

1.

Epidemiological aspects of Mendelian syndromes in a Spanish population sample: I. Autosomal dominant malformation syndromes.

Martínez-Frías ML, Cereijo A, Bermejo E, López M, Sánchez M, Gonzalo C.

Am J Med Genet. 1991 Mar 15;38(4):622-5.

PMID:
2063907
2.

Epidemiological aspects of Mendelian syndromes in a Spanish population sample: II. Autosomal recessive malformation syndromes.

Martínez-Frías ML, Bermejo E, Cereijo A, Sánchez M, López M, Gonzalo C.

Am J Med Genet. 1991 Mar 15;38(4):626-9.

PMID:
2063908
3.

[The Townes-Brocks syndrome in Spain: the epidemiological aspects in a consecutive series of cases].

Martínez-Frías ML, Bermejo Sánchez E, Arroyo Carrera I, Pérez Fernández JL, Pardo Romero M, Burón Martínez E, Hernández Ramón F.

An Esp Pediatr. 1999 Jan;50(1):57-60. Spanish.

PMID:
10083645
4.

Prevalence of congenital anomaly syndromes in a Spanish gypsy population.

Martínez-Frías ML, Bermejo E.

J Med Genet. 1992 Jul;29(7):483-6.

5.

[An epidemiological study of the thrombocytopenia with radial aplasia syndrome (TAR) in Spain].

Martínez-Frías ML, Bermejo Sánchez E, García García A, Pérez Fernández JL, Cucalón Manzanos F, Calvo Aguilar MJ, Ripalda Crespo MJ.

An Esp Pediatr. 1998 Dec;49(6):619-23. Spanish.

PMID:
9972626
6.

Prevalence of dominant mutations in Spain: effect of changes in maternal age distribution.

Martínez-Frías ML, Herranz I, Salvador J, Prieto L, Ramos-Arroyo MA, Rodríguez-Pinilla E, Cordero JF.

Am J Med Genet. 1988 Dec;31(4):845-52.

PMID:
3239577
7.

[The Adams-Oliver syndrome in Spain: the epidemiological aspects].

Martínez-Frías ML, Arroyo Carrera I, Muñoz-Delgado NJ, Nieto Conde C, Rodríguez-Pinilla E, Urioste Azcorra M, Omeñaca Teres F, García Alix A.

An Esp Pediatr. 1996 Jul;45(1):57-61. Spanish.

PMID:
8849132
8.

[Fraser syndrome: frequency in our environment and clinical-epidemiological aspects of a consecutive series of cases].

Martínez-Frías ML, Bermejo Sánchez E, Félix V, Calvo Celada R, Ayala Garcés A, Hernández Ramón F.

An Esp Pediatr. 1998 Jun;48(6):634-8. Spanish.

PMID:
9662850
9.

Epidemiological and clinical analysis of a consecutive series of conjoined twins in Spain.

Martínez-Frías ML, Bermejo E, Mendioroz J, Rodríguez-Pinilla E, Blanco M, Egüés J, Félix V, García A, Huertas H, Nieto C, López JA, López S, Paisán L, Rosa A, Vázquez MS.

J Pediatr Surg. 2009 Apr;44(4):811-20. doi: 10.1016/j.jpedsurg.2008.07.002. Review.

PMID:
19361646
10.

[Children with limb reductions in a population of 25,193 malformed newborns: the recognized causes. ECEMC. The Spanish Collaborative Study of Congenital Malformations].

Martínez-Frías ML, Bermejo E, Paisán L, Blanco M, Félix V, Egüés J, Hernández F, Martín M, Martínez S, Ayala A, Aparicio P, Rodríguez-Pinilla E.

An Esp Pediatr. 1998 Jan;48(1):49-53. Spanish.

PMID:
9542226
11.

Holoprosencephaly associated with caudal dysgenesis: a clinical-epidemiological analysis.

Martínez-Frías ML, Bermejo E, García A, Galán E, Prieto L.

Am J Med Genet. 1994 Oct 15;53(1):46-51.

PMID:
7802035
12.

Congenital eye malformations: clinical-epidemiological analysis of 1,124,654 consecutive births in Spain.

Bermejo E, Martínez-Frías ML.

Am J Med Genet. 1998 Feb 17;75(5):497-504.

PMID:
9489793
13.

[Jarcho-Levin and Casamassima syndromes: differential diagnosis and frequency in Spain].

Martínez-Frías ML, Bermejo Sánchez E, Martínez Santana S, Nieto Conde C, Egüés Jimeno J, Pérez Fernández JL, Foguet Vidal A.

An Esp Pediatr. 1998 May;48(5):510-4. Spanish.

PMID:
9656539
14.

[Frequency of congenital defects in Spain: 1976-1983].

Martínez Frías ML, Salvador J, Adán A, Frías JL.

An Esp Pediatr. 1986 Sep;25(3):145-53. Spanish.

PMID:
3789547
15.
16.

Clinical/epidemiological analysis of malformations.

Martinez-Frías ML, Frías JL, Salvador J.

Am J Med Genet. 1990 Jan;35(1):121-5.

PMID:
2301461
17.

[Epidemiological study of Steinert's congenital myotonic dystrophy: dysmorphological characteristics].

González de Dios J, Martínez Frías ML, Egües Jimeno J, Gairi Tahull JM, Gómez Sabrido F, Morales Fernández MC, Paisán Grisolía L, Pardo Romero M, Medina Rams M.

An Esp Pediatr. 1999 Oct;51(4):389-96. Spanish.

PMID:
10690232
18.

[Wiedemann-Beckwith syndrome: clinical and epidemiological analysis of a consecutive series of cases in Spain].

Arroyo Carrera I, Martínez-Frías ML, Egüés Jimeno J, García Martínez MJ, Eloína Cimadevilla Sánchez C, Bermejo Sánchez E.

An Esp Pediatr. 1999 Feb;50(2):161-5. Spanish.

PMID:
10199027
19.

[Brachmann-de-Lange syndrome in our population: clinical and epidemiological characteristics].

Martínez-Frías ML, Bermejo E, Félix V, Jiménez N, Gómez-Ullate J, López JA, Aparicio P, Ayala A, Gairi JM, Galán E, Suárez ME, Peñas A, de Tapia JM, Nieto C, de la Serna E.

An Esp Pediatr. 1998 Mar;48(3):293-8. Spanish.

PMID:
9608092
20.

Associated malformations in patients with esophageal atresia.

Stoll C, Alembik Y, Dott B, Roth MP.

Eur J Med Genet. 2009 Sep-Oct;52(5):287-90. doi: 10.1016/j.ejmg.2009.04.004. Epub 2009 May 4.

PMID:
19410022

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