HT Lynch, A De la Chapelle - Journal of medical genetics, 1999 - jmg.bmj.com
Familial colorectal cancer (CRC) is a major public health problem by virtue of its relatively high frequency. Some 15-20% of all CRCs are familial. Among these, familial adenomatous …
C Grisa, S Schneider - Revista de economia e sociologia rural, 2014 - SciELO Brasil
Este artigo analisa a trajetória de construção de políticas públicas para a agricultura familiar no Brasil, procurando enfatizar as" gerações" ou referenciais de políticas públicas …
Early-onset torsion dystonia is a movement disorder, characterized by twisting muscle contractures, that begins in childhood. Symptoms are believed to result from altered …
LJ Ozelius, G Senthil… - … England Journal of …, 2006 - Mass Medical Soc
To the Editor: Most cases of Parkinson's disease are considered sporadic and idiopathic, although there is evidence of familial aggregation, and several monogenic forms have been …
RJ Morell, HJ Kim, LJ Hood, L Goforth… - … England Journal of …, 1998 - Mass Medical Soc
Background Mutations in the GJB2 gene cause one form of nonsyndromic recessive deafness. Among Mediterranean Europeans, more than 80 percent of cases of …
JC Stephens, DE Reich, DB Goldstein, HD Shin… - The American Journal of …, 1998 - cell.com
The CCR5-Δ32 deletion obliterates the CCR5 chemokine and the human immunodeficiency virus (HIV)–1 coreceptor on lymphoid cells, leading to strong resistance against HIV-1 …
J Akey, L Jin, M Xiong - European Journal of Human Genetics, 2001 - nature.com
The genetic dissection of complex diseases represents a formidable challenge for modern human genetics. Recently, it has been suggested that linkage disequilibrium (LD) based …
JP Struewing, D Abeliovich, T Peretz, N Avishai… - Nature …, 1995 - nature.com
Since BRCA1, the first major gene responsible for inherited breast cancer, was cloned1, more than 50 unique mutations have been detected in the germline of individuals with …
SA Tishkoff, BC Verrelli - Annual review of genomics and human …, 2003 - annualreviews.org
Since the completion of the human genome sequencing project, the discovery and characterization of human genetic variation is a principal focus for future research …