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MYH9-related disease: Five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations
(Elsevier Masson, 2013-01)
MYH9-related disease (MYH9-RD) is a rare autosomal dominant syndromic disorder caused by mutations in MYH9, the gene encoding for the heavy chain of non-muscle myosin IIA (myosin-9). MYH9-RD is characterized by congenital ...
Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly
(Blackwell MunksgaardFrederiksberg CDinamarca, 2005)
Rapid Detection of SARS-CoV-2 RNA Using Reverse Transcription Recombinase Polymerase Amplification (RT-RPA) with Lateral Flow for N-Protein Gene and Variant-Specific Deletion-Insertion Mutation in S-Protein Gene.
(MDPI, 2023)
Rapid molecular testing for severe acute respiratory coronavirus 2 (SARS-CoV-2) variants may contribute to the development of public health measures, particularly in resource-limited areas. Reverse transcription recombinase ...
Absence of the BRCA1 del (exons 9–12) mutation in breast/ovarian cancer families outside of Mexican Hispanics
(Breast Cancer Res Treat, 2009-03-31)
The frequency and spectrum of germ line mutations in the
high-penetrance breast cancer susceptibility genes BRCA1
and BRCA2 shows considerable variation by ethnic group.
Most genetic epidemiological studies of the BRCA ...
Deletion of DNA sequences of using a polymerase chain reaction based approach
(Pontificia Universidad Católica de Valparaíso, 2006)
Role of the carboxyl terminus on the catalytic activity of protein kinase CK2α subunit
(2002)
Protein kinase CK2 (also known as casein kinase 2) has catalytic (α, α′) and regulatory (β) subunits. The role of carboxyl amino acids in positions from 324 to 328 was studied for Xenopus laevis CK2α. Deletions and mutations ...
A Deletion of More than 800 kb Is the Most Recurrent Mutation in Chilean Patients with SHOX Gene Defects
(Karger, 2015)
Background: Deletions in the SHOX gene are the most frequent
genetic cause of Leri-Weill syndrome and Langer mesomelic
dysplasia, which are also present in idiopathic short
stature. Aim: To describe the molecular and ...
Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease
(Kluwer Academic Publ, 2002-11-01)
Canavan disease, an inherited leukodystrophy, is caused by mutations in the aspartoacylase (ASPA) gene. It is most common among children of Ashkenazi Jewish descent but has been diagnosed in many diverse ethnic groups. Two ...
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 ...