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Mostrando ítems 81-90 de 108
Ambiguous genitalia by 9p deletion inherent to a dic(Y;9)(q12;p24)
(2005)
We describe here a 3-month-old male infant with brachy-plagyocephaly, short neck, widely spaced nipples, mild hypertonia, and ambiguous external genitalia but with both testes in the scrotum and no Mollerian derivates. His ...
The role of the SHOX gene in the development of short stature: an overview of clinical and molecular evaluation
(Research Trends, 2016-12)
SHOX gene (short stature homeobox-containing gene) deficiency is related to a diversity of clinical conditions such as Leri-Weill dyschondrosteosis, Turner syndrome and idiopathic short stature, all characterized by growth ...
Mosaicism of alpha-synuclein gene rearrangements: Report of two unrelated cases of early-onset parkinsonism
(Elsevier, 2014-05)
In genetics, the term mosaicism describes the situation in which groups of cells have a different genetic composition to other cells in an organism. Somatic gene rearrangements due to multiplication or deletion of genes ...
Whole-genome sequencing of the efficient industrial fuel-ethanol fermentative Saccharomyces cerevisiae strain CAT-1
(SPRINGER HEIDELBERGHEIDELBERG, 2012)
The Saccharomyces cerevisiae strains widely used for industrial fuel-ethanol production have been developed by selection, but their underlying beneficial genetic polymorphisms remain unknown. Here, we report the draft ...
A síndrome de Williams-Beuren: contribuições à avaliação clínica e genômica
(Universidade Estadual Paulista (UNESP), 2014)
Screening of ARHSP-TCC Patients Expands the Spectrum of SPG11 Mutations and Includes a Large Scale Gene Deletion
(WILEY-LISS, 2009)
Autosomal recessive spastic paraplegia with thinning of corpus callosum (ARHSP-TCC) is a complex form of HSP initially described in Japan but subsequently reported to have a worldwide distribution with a particular high ...