Dystonia

B Balint, NE Mencacci, EM Valente, A Pisani… - Nature reviews Disease …, 2018 - nature.com
Dystonia is a neurological condition characterized by abnormal involuntary movements or
postures owing to sustained or intermittent muscle contractions. Dystonia can be the …

Genetic susceptibility to non-polyposis colorectal cancer

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 …

[HTML][HTML] Três gerações de políticas públicas para a agricultura familiar e formas de interação entre sociedade e estado no Brasil

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 …

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

LJ Ozelius, JW Hewett, CE Page, SB Bressman… - Nature …, 1997 - nature.com
Early-onset torsion dystonia is a movement disorder, characterized by twisting muscle
contractures, that begins in childhood. Symptoms are believed to result from altered …

LRRK2 G2019S as a Cause of Parkinson's Disease in Ashkenazi Jews

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 …

Mutations in the Connexin 26 Gene (GJB2) among Ashkenazi Jews with Nonsyndromic Recessive Deafness

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 …

Dating the origin of the CCR5-Δ32 AIDS-resistance allele by the coalescence of haplotypes

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 …

Haplotypes vs single marker linkage disequilibrium tests: what do we gain?

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 …

The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals

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 …

Patterns of human genetic diversity: implications for human evolutionary history and disease

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 …