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Ehlers-Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia
(Oxford University Press, 2021-07)
Context: The syndrome CAH-X is due to a contiguous gene deletion of CYP21A2 and TNXB resulting in TNXA/TNXB chimeras. Objective: To analyze TNXB gene status and to clinically evaluate the Ehlers-Danlos syndrome phenotype ...
Avaliação da expressão gênica da cápsula articular na instabilidade anterior traumática do ombro
(Universidade Federal de São Paulo (UNIFESP), 2016-07-29)
The shoulder is the human joint most susceptible to dislocations, with an estimated incidence of 8.2 to 23.9 cases per 100,000 individuals per year. Molecular studies related to shoulder instability could promote a better ...
HABP2 p. G534E variant in patients with family history of thyroid and breast cancer
(2017-01-01)
Familial Papillary Thyroid Carcinoma (PTC) has been described as a hereditary predisposition cancer syndrome associated with mutations in candidate genes including HABP2. Two of 20 probands from families with history of ...
“Western Blotting” utilizando antígeno de Strongyloides ratti na detecção de IgG sérica na Estrongiloidíase HumanaWestern blotting using Strongyloides ratti antigen for the detection of serum IgG in Human Strongyloidiasis
(Universidade Federal de UberlândiaBrasilPrograma de Pós-graduação em Imunologia e Parasitologia Aplicadas, 2019)
Genome-wide scan for commons SNPs affecting bovine leukemia virus infection level in dairy cattle
(BioMed Central, 2018-02)
Background: Bovine leukemia virus (BLV) infection is omnipresent in dairy herds causing direct economic losses due to trade restrictions and lymphosarcoma-related deaths. Milk production drops and increase in the culling ...
Genome-wide scan for commons SNPs affecting bovine leukemia virus infection level in dairy cattle
(2018-02-13)
Background: Bovine leukemia virus (BLV) infection is omnipresent in dairy herds causing direct economic losses
due to trade restrictions and lymphosarcoma-related deaths. Milk production drops and increase in the culling ...
A De Novo Mutation In Cyp21a2 Gene In A Case Of In Vitro Fertilization
(Elsevier Inc., 2015)