M. Y. Nishi

发表

Malignant testicular germ cell tumors in postpubertal individuals with androgen insensitivity: prevalence, pathology and relevance of single nucleotide polymorphism-based susceptibility profiling

H. Stoop, A. Gillis, L. Looijenga, 2017, Human reproduction.

DEAH-box helicase 37 (DHX37) defects are a novel molecular etiology of 46,XY gonadal dysgenesis spectrum

E. Vilain, C. Keegan, H. Barseghyan, 2018, bioRxiv.

High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort

A. Latronico, L. Montenegro, B. Mendonca, 2022, Journal of the Endocrine Society.

Homozygous Inactivating Mutation in NANOS3 in Two Sisters with Primary Ovarian Insufficiency

G. Guerra‐Júnior, F. C. Soardi, M. de Mello, 2014, BioMed research international.

Elevated plasma miR‐210 expression is associated with atypical genitalia in patients with 46,XY differences in sex development

B. Mendonca, F. Dénes, N. Gomes, 2022, Molecular genetics & genomic medicine.

Identification of the first homozygous 1‐bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing

B. Mendonca, S. Domenice, M. França, 2018, Clinical genetics.

Genetic evidence of the association of DEAH-box helicase 37 defects with 46,XY gonadal dysgenesis spectrum.

E. Vilain, C. Keegan, R. Mitchell, 2019, The Journal of clinical endocrinology and metabolism.

Effects of Type 1 Insulin-Like Growth Factor Receptor Silencing in a Human Adrenocortical Cell Line

B. Ferraz-de-Souza, A. Latronico, L. Montenegro, 2016, Hormone and Metabolic Research.

Combined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion

R. M. Martin, A. Billerbeck, L. Carvalho, 2006, Clinical endocrinology.

Heterozygous Nonsense Mutation in the Androgen Receptor Gene Associated with Partial Androgen Insensitivity Syndrome in an Individual with 47,XXY Karyotype

N. Gomes, S. Domenice, R. Batista, 2017, Sexual Development.

Amplification of the Insulin-Like Growth Factor 1 Receptor Gene Is a Rare Event in Adrenocortical Adenocarcinomas: Searching for Potential Mechanisms of Overexpression

A. Latronico, B. Mendonca, A. Jorge, 2014, BioMed research international.

Contribution of clinical and genetic approaches for diagnosing 209 index cases with 46,XY Differences of Sex Development.

L. Montenegro, A. Lerário, A. Jorge, 2022, The Journal of clinical endocrinology and metabolism.