María Luisa Martínez‐Frías

Author

Also Known As

M L Martínez-Frías, M. L. Martínez-Frías, M. L. Martínez‐Frías, M. Luisa Martínez-Frías, M. Luísa Martínez‐Frías, M.-L. Martínez-Frías, M.L. Martínez-Frías, M.L. Martínez‐Frías, MARIA LUISA MARTINEZ‐FRIAS, Mar??a Luisa Mart??nez-Fr??as

Publications

3.3K

Citations

H-Index

Concepts

All Affiliations

Universidad Complutense de Madrid Instituto de Salud Carlos III Università Cattolica del Sacro Cuore The University of Sydney Centre for Biomedical Network Research on Rare Diseases

About

María Luisa Martínez‐Frías is an author at Universidad Complutense de Madrid specializing in medicine, genetics, and pediatrics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	9	9	1.2K
2	Public Health	3	3	245
3	Anatomy	1	1	12
4	Biology	1	1	12
5	Cell Biology	1	1	92

María Luisa Martínez‐Frías

Publications

2.8K

Citations

H-Index

Page 1

	Year	Citations
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection Yanick J. Crow, Andrea Leitch, Bruce E. Hayward, Nature Genetics Ribonuclease H2Viral EvolutionGenetic DisorderNeurovirologyGenetics	2006	666
The spectrum of congenital anomalies of the VATER association: An international study Lorenzo D. Botto, Muin J. Khoury, Pierpaolo Mastroiacovo, American Journal of Medical Genetics	1997	258
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome María Clara Bonaglia, Roberto Giorda, Silvana Beri, PLoS Genetics	2011	223
Birth prevalence study of the apert syndrome Maimon M. Cohen, Sven Kreiborg, Edward J. Lammer, American Journal of Medical Genetics	1992	213
Epidemiological analysis of outcomes of pregnancy in diabetic mothers: Identification of the most characteristic and most frequent congenital anomalies María Luisa Martínez‐Frías American Journal of Medical Genetics	1994	197
A Joint International Study on the Epidemiology of Hypospadias BENGT KALLGN, Roberto Bertollini, Eduardo E. Castilla, Acta Paediatrica Parasitic DiseaseGlobal HealthZoonotic DiseaseClinical EpidemiologyPediatrics	1986	184
Infants of diabetic mothers are at increased risk for the oculo-auriculo-vertebral sequence: A case-based and case-control approach Raymond Wang, María Luisa Martínez‐Frías, John M. Graham The Journal of Pediatrics Case-control ApproachMedicineDiabetesPediatricsGynecology	2002	132
Prenatal exposure to salicylates and gastroschisis: A case-control study María Luisa Martínez‐Frías, Elvira Rodríguez‐Pinilla, Luís Prieto Teratology	1997	112
Risk for congenital anomalies associated with different sporadic and daily doses of alcohol consumption during pregnancy: A case–control study María Luisa Martínez‐Frías, Eva Bermejo, Elvira Rodríguez‐Pinilla, Birth Defects Research Part A Clinical and Molecular Teratology	2004	109
Snail1 Is a Transcriptional Effector of FGFR3 Signaling during Chondrogenesis and Achondroplasias Cristina A. de Frutos, Sonia Vega, Miguel Manzanares, Developmental Cell Transcriptional RegulationCell LineageDevelopmental BiologyTissue DevelopmentGenetics	2007	92

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