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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 ...
Reabilitação oral de paciente portador de amelogênese imperfeita: relato de caso
(Universidade Federal de Minas GeraisBrasilFAO - DEPARTAMENTO DE ODONTOLOGIA RESTAURADORACurso de Especialização em DentísticaUFMG, 2022-08-25)
Amelogenesis imperfecta (AI) is a condition of genomic origin that causes a defect in the tooth structure, presenting exclusively in the enamel and altering both its formation and its content. It manifests itself in the ...
Tratamento conservador de mancha branca hipoplásica em esmalte: relato de caso
(DOL - Departamento de Odontologia – Lagarto - PresencialUFS, 2019)
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features
(B M J PUBLISHING GROUPLONDON, 2012)
Background Congenital deletions affecting 3q11q23 have rarely been reported and only five cases have been molecularly characterised. Genotype. phenotype correlation has been hampered by the variable sizes and breakpoints ...
Hypoplastic left heart syndrome: 10 year experience with staged surgical management
(2016)
Resumen El síndrome de hipoplasia de corazón izquierdo (SHCI) es una cardiopatía congénita con letalidad superior al 95%. La etapificación quirúrgica es la principal vía de tratamiento, y se inicia con la operación de ...
XmnI polymorphism is associated with fetal hemoglobin levels in hypoplastic syndromes
(Associação Paulista de Medicina - APM, 2006-01-01)
CONTEXT AND OBJECTIVE: Acquired fetal hemoglobin (HbF) elevation has been implicated as a prognostic factor in dyserythropoietic disorders. Our objectives were to examine acquired HbF increases in aplastic anemia (AA) and ...
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 ...
Novel frameshift variant in gene SALL4 causing Okihiro syndrome
(Elsevier Science Bv, 2016)
Okihiro syndrome, Duane-radial ray syndrome or acro-reno-ocular syndrome (OMIM #607323) are alternative denominations describing an extremely variable condition, characterized by several radial defects of the upper limbs ...
Case Report: Crown Resorption in a Patient With Junctional Epidermolysis Bullosa and Amelogenesis Imperfecta With LAMB3 Gene Mutations
(2021)
Background: Epidermolysis bullosa (EB) corresponds to a series of conditions
characterized by extreme fragility of the skin and/or mucous membranes. Of the four
main types of EB, junctional EB (JEB) is the most associated ...
Hardships of contact: enamel hypoplasias in Tupí-Mondé amerindians from the brazilian Amazonia
(American Association of Physical Anthropologists, 2019)