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Reviewing Large LAMA2 Deletions and Duplications in Congenital MuscularDystrophy Patients
(IOS PressAmsterdam, 2014-09-30)
Background: Congenital muscular dystrophy (CMD) type 1A (MDC1A) is caused by recessive mutations in laminin-α2 (LAMA2) gene. Laminin-211, a heterotrimeric glycoprotein that contains the α2 chain, is crucial for muscle ...
Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers
(Faculdade de Medicina / USP, 2011)
INTRODUCTION: Williams-Beuren syndrome (WBS; OMIM 194050) is caused by a hemizygous contiguous gene microdeletion at 7q11.23. Supravalvular aortic stenosis, mental retardation, overfriendliness, and ocular and renal ...
ROBO1 deletion as a novel germline alteration in breast and colorectal cancer patients
(Springer, 2015-10-01)
Despite one third of breast (BC) and colorectal cancer (CRC) cases having a hereditary component, only a small proportion can be explained by germline mutations. The aim of this study was to identify potential genomic ...
Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis
(2019)
Background: Chromosome 22q11.2 microdeletion syndrome, a disorder caused by heterozygous loss of genetic material in chromosome region 22q11.2, has a broad range of clinical symptoms. The most common congenital anomalies ...
Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion
(WILEY-BLACKWELLHOBOKEN, 2012)
We describe a girl with a phenotype characterized by frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies who presents a 46,XX,r(21) karyotype. Array-comparative genomic hybridization using the ...
Establishing the optimal essential amino acid ratios in juveniles of Nile tilapia (Oreochromis niloticus) by the deletion method
(Wiley-Blackwell, 2016-04-01)
One of the strategies used to improve fish production is lowering the feed costs and the environmental impact by reducing dietary protein content. Using the deletion method, we determined the optimal amino acid (AA) ratio ...
A one-to-one correspondence between potential solutions ofthe cluster deletion problem and the minimum sum coloring problem, and its application to P4-sparse graphs
(Elsevier, 2015)
In this note we show a one-to-one correspondence between potentially optimal solutions to the cluster deletion problem in a graph Gand potentially optimal solutions for the minimum sum coloring problem in G(i.e. the ...
Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome
(2012-02-01)
Smith-Magenis syndrome (SMS) is a complex disorder whose clinical features include mild to severe intellectual disability with speech delay, growth failure, brachycephaly, flat midface, short broad hands, and behavioral ...