Zobrazeno 1 - 10
of 223
pro vyhledávání: '"Eduardo E, Castilla"'
Autor:
Fernando A Poletta, Monica Rittler, Cesar Saleme, Hebe Campaña, Juan A Gili, Mariela S Pawluk, Lucas G Gimenez, Viviana R Cosentino, Eduardo E Castilla, Jorge S López-Camelo
Publikováno v:
PLoS ONE, Vol 13, Iss 3, p e0193127 (2018)
Historically, neural tube defects (NTDs) have predominated in female infants but the reasons remain unclear. In South America, the pre- folic acid fortification (FAF) rates of NTDs were around 18/10,000 births for females and 12/10,000 births for mal
Externí odkaz:
https://doaj.org/article/d431dea05ad544fc8879dfa60d285947
Autor:
Luis Francisco González Álvarez, Jair Tenorio‐Castaño, Fernando A. Poletta, Fernando Santos‐Simarro, Pedro Arias, Natalia Gallego, Iêda Maria Orioli, Stefan Mundlos, Eduardo E. Castilla, Víctor Martínez‐Glez, María Luisa Martínez‐Frías, Víctor L. Ruiz‐Pérez, Julián Nevado, Pablo Lapunzina
Publikováno v:
American Journal of Medical Genetics Part A
We present a large, ten-generation family of 273 individuals with 84 people having preaxial polydactyly/triphalangeal thumb due to a pathogenic variant in the zone of polarizing activity regulatory sequence (ZRS) within the exon 5 of LMBR1. The causa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cadf3ab18de180f337df11081e9087a
https://hdl.handle.net/21.11116/0000-000B-61BB-521.11116/0000-000B-61BD-3
https://hdl.handle.net/21.11116/0000-000B-61BB-521.11116/0000-000B-61BD-3
Publikováno v:
Genetics and Molecular Biology, Vol 37, Iss 1 suppl 1, Pp 186-193 (2014)
Here we propose a registration process for population genetic isolates, usually geographic clusters of genetic disorders, based on the systematic search of rumors, defined as any type of account regardless of its reliability. Systematically ascertain
Externí odkaz:
https://doaj.org/article/4b7342ad72c249f7bfa69876a2e7ecc9
Publikováno v:
Genetics and Molecular Biology, Vol 37, Iss 1 suppl 1, Pp 171-185 (2014)
This is a guide for fieldwork in Population Medical Genetics research projects. Data collection, handling, and analysis from large pedigrees require the use of specific tools and methods not widely familiar to human geneticists, unfortunately leading
Externí odkaz:
https://doaj.org/article/03e67b5e13e349b3b8cab66234e0ab5b
Autor:
Victor L. Ruiz-Pérez, Julián Nevado, Harry Pachajoa, Pablo Lapunzina, Jair Tenorio-Castaño, Ángel Campos Barros, Eduardo E. Castilla
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
instname
In this article, we analyze several works of art which portray individuals with short stature ("dwarfism"). We have focused on eight individuals who we believe have short stature due to growth hormone deficiency (GHD) or closely related disorders, ra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bfcf57e193483c65161e2c3b8a1c512
https://doi.org/10.1002/ajmg.c.31916
https://doi.org/10.1002/ajmg.c.31916
Publikováno v:
Revista Colombiana de Obstetricia y Ginecología, Vol 58, Iss 1 (2016)
La ciclopía es una malformación congénita rara e incompatible con la vida, caracterizada por la presencia de un solo ojo en posición central, secundaria a holoprosencefalia alobar, de etiología heterogénea, con una prevalencia de 1-3 en 100.000
Externí odkaz:
https://doaj.org/article/03c5a7f5f4904603be6a18a0a76671f7
Publikováno v:
Cadernos de Saúde Pública, Vol 27, Iss 10, Pp 1961-1968 (2011)
The dyad comprising eye anomalies and congenital heart defects in the same newborn has been proposed as the best sentinel phenotype for the early detection of rubella embryopathy. Time-space birth prevalence distributions of the eye-heart dyad were d
Externí odkaz:
https://doaj.org/article/49edbc18a35441849d627c45c634bebb
Publikováno v:
Revista Colombiana de Obstetricia y Ginecología, Vol 58, Iss 1, Pp 70-77 (2007)
La ciclopía es una malformación congénita rara e incompatible con la vida, caracterizada por la presencia de un solo ojo en posición central, secundaria a holoprosencefalia alobar, de etiología heterogénea, con una prevalencia de 1-3 en 100.000
Externí odkaz:
https://doaj.org/article/479d86fbb6814582b5347e535b9b73b3
Autor:
Ida Anjomshoaa, Jessica Briseño-Ruiz, Kathleen Deeley, Fernardo A Poletta, Juan C Mereb, Aline L Leite, Priscila A T M Barreta, Thelma L Silva, Piper Dizak, Timothy Ruff, Asli Patir, Mine Koruyucu, Zerrin Abbasoğlu, Priscila L Casado, Andrew Brown, Samer H Zaky, Merve Bayram, Erika C Küchler, Margaret E Cooper, Kai Liu, Mary L Marazita, İlknur Tanboğa, José M Granjeiro, Figen Seymen, Eduardo E Castilla, Iêda M Orioli, Charles Sfeir, Hongjiao Owyang, Marília A R Buzalaf, Alexandre R Vieira
Publikováno v:
PLoS ONE, Vol 10, Iss 12, p e0143068 (2015)
Aquaporins (AQP) are water channel proteins and the genes coding for AQP2, AQP5, and AQP6 are clustered in 12q13. Since AQP5 is expressed in serous acinar cells of salivary glands, we investigated its involvement in caries. DNA samples from 1,383 ind
Externí odkaz:
https://doaj.org/article/fa8123d599924aa0ac391f8900899508
Autor:
Mônica Rittler, Eduardo E. Castilla
Publikováno v:
Cadernos de Saúde Pública, Vol 18, Iss 2, Pp 421-428 (2002)
The specialized literature was reviewed concerning the suspected increasing secular trends in the frequency of female births, male genital congenital anomalies, abnormal sperm counts, and testicular cancer. Although no risk factors could be identifie
Externí odkaz:
https://doaj.org/article/9a7ab77d00314256997609a151b9f0d7