A novel germline mutation (Y21X) in the PRKAR1A gene in a Brazilian family with Carney complex (2005)
- Authors:
- Autor USP: MENDONCA, BERENICE BILHARINHO DE - FM
- Unidade: FM
- Subjects: IMAGEM POR RESSONÂNCIA MAGNÉTICA; MANIFESTAÇÕES CUTÂNEAS; BRASILEIROS; MUTAÇÃO GENÉTICA; FENÓTIPOS
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: Program and Abstracts
- Conference titles: The Endocrine Society's Annual Meeting
-
ABNT
COSTA, Marcia H. S. et al. A novel germline mutation (Y21X) in the PRKAR1A gene in a Brazilian family with Carney complex. 2005, Anais.. San Diego: Faculdade de Medicina, Universidade de São Paulo, 2005. . Acesso em: 19 abr. 2024. -
APA
Costa, M. H. S., Almeida, M. Q., Domenice, S., Mendonça, B. B., & Fragoso, M. C. B. V. (2005). A novel germline mutation (Y21X) in the PRKAR1A gene in a Brazilian family with Carney complex. In Program and Abstracts. San Diego: Faculdade de Medicina, Universidade de São Paulo. -
NLM
Costa MHS, Almeida MQ, Domenice S, Mendonça BB, Fragoso MCBV. A novel germline mutation (Y21X) in the PRKAR1A gene in a Brazilian family with Carney complex. Program and Abstracts. 2005 ;[citado 2024 abr. 19 ] -
Vancouver
Costa MHS, Almeida MQ, Domenice S, Mendonça BB, Fragoso MCBV. A novel germline mutation (Y21X) in the PRKAR1A gene in a Brazilian family with Carney complex. Program and Abstracts. 2005 ;[citado 2024 abr. 19 ] - Variable ACTH-stimulated 17-Hydroxyprogesterone values in 21-hydroxylase deficiency carriers are not related to the different CYP21 gene mutations
- Absense of duplication on DAX1 gene in patients with 46,XY sex reversal
- Crescimento linear e estatura final em crianças com tumores adrenais predominantemente virilizantes
- Absense of inactivating mutations and deletions of DAX1 gene in SRY negative 46,XX sex-reversed patients
- Heterogeneidade clínica e molecular do hipogonadismo hipogonadotrófico (HH): importância da avaliação do sistema olfatório no diagnóstico diferencial
- Number of CAG repeats in Exon 1 of androgen receptor gene is not related to gender identity in adult patients with male psudohermaphroditism and male transexualism
- Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitibity syndrome in a brazilian cohort: five novel mutations in the androgen receptor gene
- Molecular analysis of SRY gene in Brazilian 46,XX sex reversed patients: absense of SRY sequence in gonadal tissue
- Reavaliação na idade adulta do diagnóstico da deficiência de GH (DGH) determinado na infância
- Maternal isodisomy causing homozygosity for a dominant activating mutation of the luteinizing hormone receptor gene in a boy with familial male-limited precocius puberty
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas