A novel homozygous mis-sense mutation (I26T) in the repressor domain of the transcription factor HESX1 is associadet with evolving combined pituitary hormone deficiency (CPHD) and ectopic posterior lobe (PL) in the absence of forebrain defect (2002)
- Authors:
- USP affiliated authors: MENDONCA, BERENICE BILHARINHO DE - FM ; ARNHOLD, IVO JORGE PRADO - FM
- Unidade: FM
- Assunto: ENDOCRINOLOGIA
- Language: Inglês
- Imprenta:
- Publisher place: San Francisco
- Date published: 2002
- Source:
- Título do periódico: Resumos
- Conference titles: Annual Metting the Endrocrine Society's
-
ABNT
CARVALHO, Luciani R. et al. A novel homozygous mis-sense mutation (I26T) in the repressor domain of the transcription factor HESX1 is associadet with evolving combined pituitary hormone deficiency (CPHD) and ectopic posterior lobe (PL) in the absence of forebrain defect. 2002, Anais.. San Francisco: Faculdade de Medicina, Universidade de São Paulo, 2002. . Acesso em: 21 maio 2024. -
APA
Carvalho, L. R., Woods, K. S., Zamparini, A. L., Mendonça, B. B. de, Brickman, J. M., Arnhold, I. J. P., & Dattani, M. T. (2002). A novel homozygous mis-sense mutation (I26T) in the repressor domain of the transcription factor HESX1 is associadet with evolving combined pituitary hormone deficiency (CPHD) and ectopic posterior lobe (PL) in the absence of forebrain defect. In Resumos. San Francisco: Faculdade de Medicina, Universidade de São Paulo. -
NLM
Carvalho LR, Woods KS, Zamparini AL, Mendonça BB de, Brickman JM, Arnhold IJP, Dattani MT. A novel homozygous mis-sense mutation (I26T) in the repressor domain of the transcription factor HESX1 is associadet with evolving combined pituitary hormone deficiency (CPHD) and ectopic posterior lobe (PL) in the absence of forebrain defect. Resumos. 2002 ;[citado 2024 maio 21 ] -
Vancouver
Carvalho LR, Woods KS, Zamparini AL, Mendonça BB de, Brickman JM, Arnhold IJP, Dattani MT. A novel homozygous mis-sense mutation (I26T) in the repressor domain of the transcription factor HESX1 is associadet with evolving combined pituitary hormone deficiency (CPHD) and ectopic posterior lobe (PL) in the absence of forebrain defect. Resumos. 2002 ;[citado 2024 maio 21 ] - Molecular analysis of SRY gene in Brazilian 46,XX sex reversed patients: absense of SRY sequence in gonadal tissue
- Clinical and molecular analysis of human reproductive disorders in brazilian patients
- Amenorréia primária causada por uma deficiência seletiva de FSH a uma mutação inativadora no gene da subunidade beta do FSH (FSH beta)
- Molecular analysis of two distinct candidate genes (GABRA1 and NPY-Y1) that could be implicated in the human puberty timing
- Nova etiologia da deficiência da 21OH: microconversão nos sítios de liga dos fatores de transcrição Sp1 e ASP no promotor do gene CYP21A2
- Clinical and molecular heterogeneity of hypogonadotropic hypogonadism (HH):: importance of olfactory system assessment in the differential diagnosis
- Reprodutive outcome of women with 21-Hydroxylase (21-OH) deficient non classic adrenal hyperplasia (NCAH):: a multicenter study
- Caracterização clínica e hormonal de pacientes portadores de deficiência hormonal hipofisária múltipla por mutação no gene PROP-1
- Ausência de haploinsuficiência do gene DAX1 em pacientes portadores de sexo 46,XX
- Valor da dosagem de gonadotrofinas pelo metodo imunofluorométrico ultrassensível no diagnóstico do hipogonadismo hipogonadotrófico (HH)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
