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D-Loop mtDNA deletion as a Unique marker of chibchan Ameridians [resumen]
(1994)
Carta al editor. Torroni et al. (1993) presented an extensive restriction-site analysis of Native American mtDNAs from 17 widely dis- tributed Na-Dene and Amerindian tribes. For sometime we have been analyzing mtDNA control ...
Genetic variation in the Bribri and Cabecar Amerindians from Talamanca, Costa Rica
(1991)
A screening of more than 40 loci was performed in the Bribri and Cabecar Amerindian populations of Talamanca in Southeastern Costa Rica. Some differences were found in the distribution (presence or absence) of the variants ...
A Second Locus for an Axonal Form of Autosomal Recessive Charcot-Marie-Tooth Disease Maps to Chromosome 19q13.3
(American Journal Human Genetic ; 68 (1 p. 269-274, 2001)
Autosomal recessive Charcot-Marie-Tooth disease (CMT) represents a heterogeneous group of disorders affecting the peripheral nervous system. The axonal form of the disease is designated as "CMT type 2" (CMT2), and one locus ...
Trastornos del neurodesarrollo (síndrome X frágil) y neurodegenerativos (síndrome de temblor/ataxia) asociados al ‘crecimiento’ de un gen
Neurodevelopmental (Fragile X syndrome) and neurodegenerative (Tremor/ataxia Syndrome) disorders associated to the 'growth' of a gene
(Revista de Neurología 40 (7) p. 431-437, 2005-04-01)
To present the latest findings on fragile X syndrome, the first genetic disorder identified to be caused by a new type of mutation called trinucleotide repeat expansion. Development. Fragile X syndrome is the most common ...
Análisis de varios marcadores genéticos clásicos en la población de Costa Rica
(2001)
A study of several loci blood groups (ABO, Diego, Duffy, Kell, Kidd, Lewis, Lutheran, MNSs, P,
Rhesus and Secretor), and Hp serum protein was carried out on a sample of 2 196 unrelated Costa Rican individuals
of both ...
mtDNA variation in the chibcha ameridian huetar from Costa Rica
(1994)
The genetic variation in a Chibcha-speaking Amerindian tribe from lower Central America, the Huetar, was analyzed using nucleotide sequences of the hypervariable segments of the mitochondria! DNA (mtDNA) control region, ...
Insolation of Novel and Known Genes from a Human Fetal Cochlear cDNA Library Using Subtractive Hybridization and Differential Screening
(1994)
We used a combination of subtractive hybridization and differential screening strategies to identify genes that may function normally in hearing and, when mutated, result in deafness. A human fetal cochlear (membranous ...
Primary Congenital Glaucoma: A Novel Single-Nucleotide Deletion and Varying Phenotypic Expression for the 1546-1555dup Mutation in the GLC3A (CYP1B1) Gene in 2 Families of Different Ethnic Origin
(Journal Glaucoma: 12 p. 27-30, 2003-02)
Purpose: To present new molecular genetic data on primary congenital glaucoma from 2 families, 1 isolated case and 3 familial cases due to mutations in the cytochrome P-450 1B1 (CYP1B1) gene.
Methods: All diagnoses were ...
A novel myosin heavy chain gene in human chromosome 19q13.3
(Gene: 312 p. 165-171, 2003-07)
A human myosin heavy chain gene was identified in chromosome 19q13 by computational sequence analysis, RT-PCR and DNA
sequencing of the cDNA. The complete cDNA has a length of 6786 bp and comprises 41 exons (40 coding) ...
Phenylketonuria in Costa Rica: preliminary spectrum of PAH mutations and their associations with highly polymorphic haplotypes
(1996)
A preliminary evaluation of the molecular basis of phenylketonuria (PKU) in Costa Rica was made by performing mutational analyses in the six PKU families identified to date. These studies revealed the presence of the ...