Výsledky vyhledávání - "Lourdes Cuevas"

Phocomelia: A worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature

Publikováno v: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 157:305-320

Epidemiologic data on phocomelia are scarce. This study presents an epidemiologic analysis of the largest series of phocomelia cases known to date. Data were provided by 19 birth defect surveillance programs, all members of the International Clearing

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8df921234cfd98186757697ef40340b
https://doi.org/10.1002/ajmg.c.30320

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Amelia: A multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature

Publikováno v: American Journal of Medical Genetics. Part C-Seminars in Medical Genetics, 157C(4), 288-304. Wiley

This study describes the epidemiology of congenital amelia (absence of limb/s), using the largest series of cases known to date. Data were gathered by 20 surveillance programs on congenital anomalies, all International Clearinghouse for Birth Defects

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf0350bc151220ac0c316819a3a42f29
https://doi.org/10.1002/ajmg.c.30319

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Epidemiology of acephalus/acardius monozygotic twins: New insights into an epigenetic causal hypothesis

Autor: EVA BERMEJO-SANCHEZ, Jacobo Mendioroz, María Lourdes Cuevas Catalina

Publikováno v: American Journal of Medical Genetics Part A. :640-649

Apart from a series of 10 acephalus/acardius (Ac/Ac) cases described from a pathological point of view, and the analysis of a review of published cases, we have been unable to find any epidemiological studies on Ac/Ac. Using data from the Spanish Col

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b62b9eb6acb3e1a3e1b8b5ebe55ef56
https://doi.org/10.1002/ajmg.a.32741

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Amelia: Analysis of its epidemiological and clinical characteristics

Autor: Luis Paisán, Manuel Rodríguez Blanco, María Luisa Martínez-Frías, E. Burón, M. C. Morales, María Isabel Porras Gallo, J. Fondevilla, M. J. Espinosa, I. Mújica, F. Hernández, J. J. Marco, Lourdes Cuevas, L. Valdivia, Eva Bermejo, Salvador Martinez, P. Aparicio

Publikováno v: American Journal of Medical Genetics. 73:189-193

Eighteen cases of amelia in the Spanish Collaborative Study of Congenital Malformations (ECEMC) were analyzed epidemiologically. Prevalence at birth was 0.15 per 10,000 newborn infants, which is not different from that reported by other authors. Affe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e4e74cfa3062502a82eea9078ed77644
https://doi.org/10.1002/(sici)1096-8628(19971212)73:2<189::aid-ajmg15>3.0.co

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Epidemiological analysis of rare polydactylies

Autor: María Luisa Martínez-Frías, Eduardo E. Castilla, Eva Bermejo, Regina Lugarinho da Fonseca, Lourdes Cuevas, Maria da Graça Dutra

Publikováno v: American Journal of Medical Genetics. 65:295-303

This work includes all cases with extra digits (polydactyly) registered from a birth sample of over four million births aggregated from two comparable birth series: the Latin-American Collaborative Study of Congenital Malformations: ECLAMC (3,128,957

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fcc3b76a2234111a8f70387b25c9bdc
https://doi.org/10.1002/(sici)1096-8628(19961111)65:4<295::aid-ajmg10>3.0.co

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Secular decreasing trend of the frequency of hypospadias among newborn male infants in Spain

Autor: María Luisa, Martínez-Frías, David, Prieto, Luis, Prieto, Eva, Bermejo, Elvira, Rodríguez-Pinilla, Lourdes, Cuevas

Publikováno v: Birth defects research. Part A, Clinical and molecular teratology. 70(2)

The frequency of hypospadias is not uniform worldwide. Several countries have reported an increase in its frequency at birth. Although a better ascertainment of the minor forms has been considered as an explanation, the potential effect of environmen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2cc5e79a64a43a493b88721f318ab3f3
https://pubmed.ncbi.nlm.nih.gov/14991914

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The incidence of gastroschisis: Is also increasing in Spain, particularly among babies of young mothers

Autor: María Luisa Martínez-Frías, Jacobo Mendioroz, Eva Bermejo, Lourdes Cuevas

Publikováno v: BMJ. 332:424.1

EDITOR—Kilby drew attention to the increasing incidence of gastroschisis in the United Kingdom, particularly among babies of young mothers.1 This has also been shown by Donaldson and by Mastroiacovo et al (previous letter).2 In the Spanish collabor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6a4f4b973be95ba16288ec010233be61
https://doi.org/10.1136/bmj.332.7538.424

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