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Your search keyword '"Antinolo, Guillermo"' showing total 4 results
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4 results on '"Antinolo, Guillermo"'

1. A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma

Author

Borrego, Salud, Wright, Fred A., Fernandez, Raquel M., Williams, Nita, Lopez-Alonso, Manuel, Davuluri, Ramana, Antinolo, Guillermo, and Eng, Charis

Subjects
Hirschsprung's disease -- Physiological aspects, Hirschsprung's disease -- Genetic aspects, Thyroid cancer -- Physiological aspects, Thyroid cancer -- Genetic aspects, Biological sciences
Published
2003

2. A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters

Author

Ruiz, Agustin, Borrego, Salud, Araneta, Irene, and Antinolo, Guillermo

Subjects
Spain -- Health aspects, Genetic disorders -- Research, Chromosome mapping -- Usage, Retinitis pigmentosa -- Genetic aspects, Biological sciences
Abstract

A major locus for autosomal recessive retinitis pigmentosa (arRP) has been identified on 6q between markers D6S257 and D6S1644. It was established by homozygosity mapping in inbred families of chromosomal regions containing gamma-aminobutyric acid-receptor clusters. RP has extensive allelic and nonallelic genetic herogeneity. It appears that 10-20% of Spanish families affected by typical arRP may have linkage to the new locus. Of the cases of the disease in Spain, 47% present autosomal recessive inheritance.

Published
1998

3. Labor induction with dinoprostone or oxytocine and postpartum disseminated intravascular coagulation: A hospital-based case-control study

Author

De Abajo, Francisco J., Meseguer, Carmen M., Antinolo, Guillermo, Rodriguez, Luis A. Garcia, Montero, Dolores, Castillo, Juan R., and Torello, Jaume

Subjects
Labor, Complicated -- Management, Oxytocin -- Dosage and administration, Dinoprostone -- Dosage and administration, Company business management, Health
Abstract

The hypothesis of an association between pharmacologic agents used for labor induction, particularly dinoprostone, and postpartum disseminated intravascular coagulation (DIC) is tested. Results show that the pharmacologic induction of labor is associated with an increased risk of postpartum DIC, indicating that special care is needed for specific risk groups.

Published
2004

4. Evaluation of the ELOVL4 gene in families with retinitis pigmentosa linked to the RP25 locus

Author

Li, Yang, Araneta, Irene, Borrego, Salud, Yu, Zhengya, Zhang, Kang, and Antinolo, Guillermo

Subjects
Eye diseases -- Genetic aspects, Linkage (Genetics) -- Analysis -- Genetic aspects, Retinitis pigmentosa -- Genetic aspects, Health
Abstract

EDITOR--Retinitis pigmentosa (RP) is the most common form of retinal dystrophy. Patients present with night blindness and progressive narrowing of the visual field, eventually leading to central vision loss. Fundus [...]

Published
2001

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