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Transcriptional analysis of the human PAX9 promoter
(Univ Sao Paulo Fac Odontologia BauruBauru-spBrasil, 2010)
A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: Evidence for phenotypic variability in mother and child
(2001-01-01)
Congenital hypothyroidism associated with thyroid hypoplasia can be caused by several genetic defects, including mutations in the TSHβ-subunit, the TSH receptor, the Gsα-subunit, and the transcription factor PAX8. Four ...
A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: Evidence for phenotypic variability in mother and child
(Endocrine Soc, 2001-08-01)
Congenital hypothyroidism associated with thyroid hypoplasia can be caused by several genetic defects, including mutations in the TSH beta -subunit, the TSH receptor, the G(A)alpha -subunit, and the transcription factor ...
Association between PAX-9 promoter polymorphisms and hypodontia in humans
(Pergamon-elsevier Science LtdOxfordInglaterra, 2005)
Absence of mutations in Pax6 gene in three cases of Morning Glory syndrome associated with isolated growth hormone deficiency
(Sociedade Brasileira de Endocrinologia e Metabologia, 2008-11-01)
Morning glory syndrome (MGS) is a congenital optic disc dysplasia often associated with craniofacial anomalies, especially basal encephalocele and hypopituitarism. Clinical signs are varied and often occult. The PAX6 gene ...
Suggestive associations between polymorphisms in PAX9, MSX1 genes and third molar agenesis in humans
(Bentham Science Publ LtdSharjahEmirados Árabes Unidos, 2006)
Absence of mutations in Pax6 gene in three cases of Morning Glory syndrome associated with isolated growth hormone deficiencyA ausência de mutações no gene PAX6 em três casos de síndrome de Morning Glory associada à deficiência isolada de hormônio do crescimento
(Sociedade Brasileira de Endocrinologia e Metabologia, 2008)