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Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family
(Neurogenetics : 4 (4) p. 191-197, 2003-07-05)
Abstract. Charcot-Marie-Tooth disease type IB (CMT 1B) is caused by mutations in the gene
coding for peripheral myelin protein zero (MPZ, P0) that plays a fundamental role in adhesion
and compaction of peripheral myelin. ...
Helicobacter pylori in a Costa Rican dyspeptic patient population
(1994-03)
Gastric biopsies from 65 Costa Rican dyspeptic patients were investigated for the presence ofHelicobacter pylori DNA by polymerase chain reaction (PCR) amplification of 16S rRNA sequences. Both frozen and paraffin-embedded ...
Dermatoglifos en los amerindios bribri y cabecar de Costa Rica
(1991)
Se realizó un estudio de los dermatoglifos digitales y palmares en 286 amerindios Bribri y Cabécar ubicados en las vertientes Atlántica y Pacífica del Sur de Costa Rica. No se halló diferencias significativas entre los ...
Microevolution of the Chibcha-speaking peoples of Lower Central America: rare genes in an Amerindian complex
(1992)
Models are developed for the survival, history, and spread of variant alleles, in order to consider what can, and what cannot, be inferred from this type of data. The high variances of the processes involved, and questions ...
Biodemografía de varias poblaciones indígenas de Costa Rica
(Vínculos 9(1 y 2):15-23, 1983)
A biodemographic study was carried out in two bribri and cabecar localities (Cabagra and
Warms) and two guaymi localities (Abrojo and Limoncito) in southeastern Costa Rica Around
50 0/0 of the people in each of these ...
Epidemiología y ecología del cáncer gástrico en Costa Rica
(Bol Oficina Sanit Panam journal 95(6) p. 495 - 506, 1983-12)
Para analizar la epidemiología del cáncer gástrico en Costa Rica y la posible influencia de algunos factores ecológicos en su incidencia anual, se utilizaron datos de los archivos deI Registro Nacional de Tumores, estos ...
The oxidative metabolism of sparteine in the Cuna Amerindians of Panama: Absence of evidence for defient metabolizers
(1988-04-20)
Sparteine sulfate (50 mg) was administered to 170 Cuna Amerindians, 142 of whom were unrelated, and the drug and its dehydrometabolites were determined in the 0- to 12-hour urine samples. The log10 of the metabolic ratio ...
Genetic diversity and evolution of the human leptin locus tetranucleotide repeat
(Hum Genet 110; p. 412-417, 2002)
To better understand the evolutionary history
of the gene region containing the multifunctional adipose
tissue hormone leptin, we genotyped 1,957 individuals
from 12 world populations for a highly variable tetranucleo ...
Uses and misuses of definitions of genetic polymorphism: A perspective from population pharmacogenetics
(1991)
Definitions of genetic polymorphism currently employed
in the pharmacological literature have been incorrectly
used (Kalow, 1984) and uncritically imported from
population genetics [e.g., Weinshilboum (1984), Evans
(1977)], ...
Global genetic variation at nine short tandem repeat loci and implications on forensic genetics
(European Journal of Human Genetics (2003) 11, 39 – 49, 2003-01)
We have studied genetic variation at nine autosomal short tandem repeat loci in 20 globally distributed
human populations defined by geographic and ethnic origins, viz., African, Caucasian, Asian, Native
American and ...