A novel germiline mutation (6747_6748insG) of MEN1 Gene, in a patient with multiple endocrine neoplasia type 1 (2004)
- Authors:
- Autor USP: MENDONÇA, BERENICE BILHARINHO DE - FM
- Unidade: FM
- Subjects: NEOPLASIA ENDÓCRINA MÚLTIPLA; MUTAÇÃO GENÉTICA; TIREOIDECTOMIA; HIPERTIREOIDISMO (COMPLICAÇÕES); METÁSTASE (COMPLICAÇÕES)
- Language: Inglês
- Imprenta:
- Publisher: International Society of Endocrinology
- Publisher place: Lisboa
- Date published: 2004
- Source:
- Título do periódico: Program and Abstracts
- Conference titles: International Congress of Endocrinology
-
ABNT
COSTA, M. H. S.; DOMENICE, S.; PINTO, E. M.; et al. A novel germiline mutation (6747_6748insG) of MEN1 Gene, in a patient with multiple endocrine neoplasia type 1. Anais.. Lisboa: International Society of Endocrinology, 2004. -
APA
Costa, M. H. S., Domenice, S., Pinto, E. M., Martin, R. M., Mimura, L. Y., Mendonca, B. B., & Fragoso, M. C. B. V. (2004). A novel germiline mutation (6747_6748insG) of MEN1 Gene, in a patient with multiple endocrine neoplasia type 1. In Program and Abstracts. Lisboa: International Society of Endocrinology. -
NLM
Costa MHS, Domenice S, Pinto EM, Martin RM, Mimura LY, Mendonca BB, Fragoso MCBV. A novel germiline mutation (6747_6748insG) of MEN1 Gene, in a patient with multiple endocrine neoplasia type 1. Program and Abstracts. 2004 ; -
Vancouver
Costa MHS, Domenice S, Pinto EM, Martin RM, Mimura LY, Mendonca BB, Fragoso MCBV. A novel germiline mutation (6747_6748insG) of MEN1 Gene, in a patient with multiple endocrine neoplasia type 1. Program and Abstracts. 2004 ; - Molecular analysis of SRY gene in Brazilian 46,XX sex reversed patients: absense of SRY sequence in gonadal tissue
- 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
- Absense of duplication on DAX1 gene in patients with 46,XY sex reversal
- 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
- Variable ACTH-stimulated 17-Hydroxyprogesterone values in 21-hydroxylase deficiency carriers are not related to the different CYP21 gene mutations
- Mutations in the SRY, DAX1, SF1 and WNT4 genes in brazilian sex-reversed patients
- Maternal isodisomy causing homozygosity for a dominant activating mutation of the luteinizing hormone receptor gene in a boy with familial male-limited precocius puberty
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