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Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness
(NATURE PUBLISHING GROUP, 2008)
Nonsyndromic autosomal recessive deafness accounts for 80% of hereditary deafness. To date, 52 loci responsible for autosomal recessive deafness have been mapped and 24 genes identified. Here, we report a large inbred ...
APOA5 Q97X Mutation Identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family
(2012)
Abstract
Background
Severe hypertriglyceridemia (HTG) has been linked to defects in LPL, APOC2, APOA5, LMF1 and GBIHBP1 genes. However, a number of severe HTG cases are ...
Hiperplasia adrenal congênita por deficiência da 21-hidroxilase, forma clássica: estudo da freqüência em famílias de indivíduos afetadosCongenital adrenal hyperplasia due to 21-hydroxylase deficiency, classic form: frequency evaluation of families with affected patients
(Sociedade de Pediatria de São Paulo, 2007)
Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility
(NATURE PUBLISHING GROUP, 2018)
In affected members of a consanguineous family, a syndrome, which is concurrence of set of medical signs, is often observed and commonly assumed to have arisen from pleiotropy, i.e., the phenomenon of a single gene variant ...
Las mujeres de Luna: cultivo de la mandioca, consanguinidad y elaboracion culinaria entre los kaliña de SurinamThe Moon Women: manioc cultivation, consanguinity and culinary elaboration among the Kaliña of Suriname
(Pontificia Universidad Católica del Perú. Fondo EditorialPE, 1988)
Biological kinship analysis in extremely critical samples: The case of a Spanish Neolithic necropolis
(Elsevier, 2017)
It is common in archeology and some forensic cases to make assumptions about the relationship between persons buried in the same grave, or in distinct burials but in the same cemetery. However, there is no objective criterion ...
Consanguinidad, sífilis, herencia y matrimonio: el lento advenimiento de la intervención médica en las leyes mexicanas del matrimonio
El sustantivo “herencia” en su sentido biológico comenzó a circular en Francia en la década de los años treinta del siglo XIX. En ese mismo siglo la herencia fue vinculada a la pesimista noción de degeneración y el ...