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Mostrando ítems 11-20 de 228
Novel Heterozygous Nonsense GLI2 Mutations in Patients with Hypopituitarism and Ectopic Posterior Pituitary Lobe without Holoprosencephaly
(ENDOCRINE SOC, 2010)
Context: GLI2 is a transcription factor downstream in Sonic Hedgehog signaling, acting early in ventral forebrain and pituitary development. GLI2 mutations were reported in patients with holoprosencephaly (HPE) and pituitary ...
Variation of tooth number in mammalian dentition: connecting genetics, development, and evolution
(Blackwell Publishing IncMaldenEUA, 2003)
Identification of six new alleles at the FUT1 and FUT2 loci in ethnically diverse individuals with Bombay and para-Bombay phenotypes
(Blackwell PublishingOxfordInglaterra, 2006)
Clinical And Molecular Characterization Of A Brazilian Cohort Of Campomelic Dysplasia Patients, And Identification Of Seven New Sox9 Mutations
(SOC BRASIL GENETICARIBEIRAO PRET, 2015)
Nonsense mediated mRNA decay affects nonsense transcripts levelsand in vitro response to gentamicin and ataluren in X-ALD
(2013)
Background: X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene, characterized by increased concentrations of very long-chain fatty acids due to a defect in peroxisomal β-oxidation. ...
Suggestive associations between polymorphisms in PAX9, MSX1 genes and third molar agenesis in humans
(Bentham Science Publ LtdSharjahEmirados Árabes Unidos, 2006)
Allele frequency of nonsense mutation responsible for hereditary nephropathy in English cocker spaniel dogs
(2020-06-01)
Hereditary nephropathy is a primary progressive glomerular disease in dogs associated with the c.115A>T mutation in the COL4A4 gene in English cocker spaniel (ECS) dogs. The disease is inherited in an autosomal recessive ...
Transcriptional analysis of the human PAX9 promoter
(Univ Sao Paulo Fac Odontologia BauruBauru-spBrasil, 2010)