Eva Bermejo-Sánchez
机构: Director. Institute of Rare Diseases Research (IIER), ISCIII, Madrid (Spain)
每年引用次数
引用次数
引用: 5,380
H-指数: 38
I10-指数 : 99
出版物: 243
Evolución temporal y por comunidades autónomas del consumo de diferentes cantidades de alcohol durante el embarazo
María Luisa Martínez-Frías , Eva Bermejo , Elvira Rodríguez-Pinilla
Medicina Clinica 120 ( 14) 535 -541
10
2003
Maternal polymorphisms 677C‐T and 1298A‐C of MTHFR, and 66A‐G MTRR genes: Is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk for having a child with Down syndrome?
María‐Luisa Martínez‐Frías , Belén Pérez , Lourdes R Desviat , Margarita Castro
American Journal of Medical Genetics Part A 140 ( 9) 987 -997
67
2006
Frequency of neural tube defects and Down syndrome in the same sibship: analysis of the Spanish ongoing case-control study.
María Luisa Martínez-Frías , Laura Rodríguez , Fermina López-Grondona , Eva Bermejo
American Journal of Medical Genetics Part A 126 ( 4) 430 -431
5
2004
Craniofacial dyssynostosis: description of the first four Spanish cases and review.
Eva Bermejo , Valentín Félix , Pablo Lapunzina , Enrique Galán
American Journal of Medical Genetics Part A 132 ( 1) 41 -48
13
2005
MTHFR 677C-T polymorphism is not excluded as maternal risk for Down syndrome among Turkish women
María Luisa Martínez-Frías , Eva Bermejo , Elvira Rodríguez-Pinilla , David Prieto
American Journal of Medical Genetics Part A 134 ( 4) 461 -461
1
2005
Sensorineural deafness, abnormal genitalia, synostosis of metacarpals and metatarsals 4 and 5, and mental retardation: description of a second patient and exclusion of HOXD13.
Jacobo Mendioroz , Joaquín Fernández-Toral , Etelvina Suárez , Fermina López-Grondona
American Journal of Medical Genetics Part A 135 ( 2) 211 -213
2
2005
New findings in craniofacial dyssynostosis.
Eva Bermejo , Pablo Lapunzina , Enrique Galán , Valentín Félix
American Journal of Medical Genetics Part A 134 ( 3) 344 -345
2005
Growth deficiency, facial anomalies, and brachydactyly (Frías syndrome): A second family
María Luisa Martínez-Frías , Joaquín Fernández Toral , Fermina López-Grondona , Jacobo Mendioroz
American Journal of Medical Genetics Part A 137A ( 3) 288 -291
4
2005
Gastroschisis and associated defects: an international study.
Pierpaolo Mastroiacovo , Alessandra Lisi , Eduardo E. Castilla , María-Luisa Martínez-Frías
American Journal of Medical Genetics Part A 143 ( 7) 660 -671
117
2007
Does single umbilical artery (SUA) predict any type of congenital defect? Clinical-epidemiological analysis of a large consecutive series of malformed infants.
María Luisa Martínez-Frías , Eva Bermejo , Elvira Rodríguez-Pinilla , David Prieto
American Journal of Medical Genetics Part A 146 ( 1) 15 -25
46
2008
Preaxial polydactyly of feet in infants of diabetic mothers: epidemiological test of a clinical hypothesis.
María Luisa Martínez-Frías , Eva Bermejo , Ana Cereijo
American Journal of Medical Genetics 42 ( 5) 643 -646
22
1992
Bilateral anophthalmia, esophageal atresia, and right cryptorchidism: A new entity?
Ignacio Arroyo , María Jesús García , Carmen Eloína Cimadevilla , Valentín Carretero
American Journal of Medical Genetics 43 ( 4) 686 -687
22
1992
Severe spondylocostal dysostosis associated with other congenital anomalies: A clinical/epidemiologic analysis and description of ten cases from the Spanish registry
María-Luisa Martínez-Frías , Eva Bermejo , Luis Paisàn , Martín Martín
American Journal of Medical Genetics 51 ( 3) 203 -212
37
1994
Holoprosencephaly associated with caudal dysgenesis: a clinical-epidemiological analysis.
María Luisa Martínez-Frías , Eva Bermejo , Angel García , Enrique Galín
American Journal of Medical Genetics 53 ( 1) 46 -51
11
1994
Primary midline developmental field. II. Clinical/epidemiological analysis of alteration of laterality (normal body symmetry and asymmetry).
María‐Luisa Martínez‐Frías , Miguel Urioste , Eva Bermejo , Elvira Rodríguez‐Pinilla
American Journal of Medical Genetics 56 ( 4) 382 -388
23
1995
Short rib-polydactyly syndrome (SRPS) with anencephaly and other central nervous system anomalies: a new type of SRPS or a more severe expression of a known SRPS entity?
MaríA-Luisa Martínez-Frías , Eva Bermejo , Miguel Urioste , Javier Egüés
American Journal of Medical Genetics 47 ( 5) 782 -787
21
1993
Short rib-polydactyly syndrome and pericentric inversion of chromosome 4.
Miguel Urioste , María Luisa Martínez-Frías , Eva Bermejo , Nicolás Jiménez
American Journal of Medical Genetics 49 ( 1) 94 -97
37
1994
Congenital Anomalies in the Offspring of Mothers With a Bicornuate Uterus
María Luisa Martı́nez-Frı́as , Eva Bermejo , Elvira Rodrı́guez-Pinilla , Jaime Luis Frı́as
Pediatrics 101 ( 4)
17
1998
On the symmetry of limb deficiencies among children with multiple congenital anomalies
Claude Stoll , Aldo Rosano , Lorenzo D Botto , David Erickson
Annales De Genetique 44 ( 1) 19 -24
11
2001
Evolución secular y por comunidades autónomas de la frecuencia de síndrome de Down al nacimiento en hijos de madres jóvenes
María Luisa Martínez-Frías , Eva Bermejo , Elvira Rodríguez-Pinilla , Fermín López Grondona
Progresos de Obstetricia y Ginecología 50 ( 2) 67 -80
2007