A novel missense variant in the Necdin gene in a male patient with kallmann syndrome (2010)
- Authors:
- USP affiliated authors: MENDONÇA, BERENICE BILHARINHO DE - FM ; XAVIER, ANA CLAUDIA LATRÔNICO - FM
- Unidade: FM
- Subjects: HIPOGONADISMO (GENÉTICA); SÍNDROME DE KALLMANN (CONGÊNITO;GENÉTICA); MAPEAMENTO CROMOSSÔMICO; RESUMOS (EVENTOS)
- Language: Inglês
- Imprenta:
- Source:
- Conference titles: Simpósio "Avanços em Pesquisas Médicas dos Laboratórios de Investigação Médica do Hospital das Clínicas da FMUSP"
-
ABNT
BENEDUZZI, D et al. A novel missense variant in the Necdin gene in a male patient with kallmann syndrome. Clinics. São Paulo: Faculdade de Medicina, Universidade de São Paulo. . Acesso em: 13 fev. 2026. , 2010 -
APA
Beneduzzi, D., Silveira-Neto, A. P., Trarbach, E., Mendonça, B. B. de, Xavier, A. C. L., & Fragoso, M. C. B. V. (2010). A novel missense variant in the Necdin gene in a male patient with kallmann syndrome. Clinics. São Paulo: Faculdade de Medicina, Universidade de São Paulo. -
NLM
Beneduzzi D, Silveira-Neto AP, Trarbach E, Mendonça BB de, Xavier ACL, Fragoso MCBV. A novel missense variant in the Necdin gene in a male patient with kallmann syndrome. Clinics. 2010 ; 65 S62.[citado 2026 fev. 13 ] -
Vancouver
Beneduzzi D, Silveira-Neto AP, Trarbach E, Mendonça BB de, Xavier ACL, Fragoso MCBV. A novel missense variant in the Necdin gene in a male patient with kallmann syndrome. Clinics. 2010 ; 65 S62.[citado 2026 fev. 13 ] - Fatores determinantes da estatura final normal em meninas com puberdade precoce dependente de gonadotrofinas tratadas com análogos de GnRII depot
- Análise dos valares de LH 2 horas após acetato de leuprolide depot na monitorização do tratamento da puberdade precoce dependente de gonadotrofinas
- Frequency of molecular diagnosis in brazilian patients with 46,XY disorders of sexual development (DSD)
- Genetic analysis of thyroid transcription factor1 (TTF-1) gene in patients with central pubertal disorders
- Mutation in PTPN11 gene are a common cause of noonan syndrome (NS) but are not a selective IGF-1 receptor kinase inhibitor (NVP-AEW541) suppresses proliferation of the human adrenocortical cancer cell line NCI H295 due to apoptosis induction
- XAF1 as a modifier of p53 function and cancer susceptibility
- Localization of Occult Adrenal Tissue with Cosyntropin-Stimulated 18F-FDG-PET/CT in a Patient with Metachronous Adrenocortical Tumor Who Presented with Persistently Elevated DHEAS after Bilateral Adrenalectomy
- Molecular analysis of the neuropeptide Y1 receptor gene in human idiopathic gonadotropin-dependent precocious puberty and isolated hypogonadotropic hypogonadism
- Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty
- Long-term outcomes of Patients with Central Precocious Puberty due to Hypothalamic Hamartoma after GnRHa Treatment: anthropometric, Metabolic, and Reproductive Aspects
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
