A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor‐1 (WT1) pathogenic variant
Molecular diagnosis is rarely established in 46,XX testicular (T) disorder of sex development
(DSD) individuals with atypical genitalia. The Wilms' tumour factor‐1 (WT1) gene is involved …
(DSD) individuals with atypical genitalia. The Wilms' tumour factor‐1 (WT1) gene is involved …
[HTML][HTML] Biallelic and monoallelic ESR2 variants associated with 46, XY disorders of sex development
…, T Güran, BB Mendonca, NL Gomes, L De Cauwer… - Genetics in …, 2018 - Elsevier
Purpose Disorders or differences of sex development (DSDs) are rare congenital conditions
characterized by atypical sex development. Despite advances in genomic technologies, the …
characterized by atypical sex development. Despite advances in genomic technologies, the …
Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein
…, HM Liu, K Upadhyay, VO, NL Gomes… - Human molecular …, 2019 - academic.oup.com
Missense mutations in the gene, MAP3K1, are a common cause of 46,XY gonadal dysgenesis,
accounting for 15–20% of cases [Ostrer, 2014, Disorders of sex development (DSDs): an …
accounting for 15–20% of cases [Ostrer, 2014, Disorders of sex development (DSDs): an …
WT1 pathogenic variants are associated with a broad spectrum of differences in sex development phenotypes and heterogeneous progression of renal disease
M Ferrari, A Watanabe, TE da Silva, NL Gomes… - Sexual …, 2022 - karger.com
Wilms’ tumor suppressor gene 1 (WT1) plays an essential role in urogenital and kidney
development. Heterozygous germline pathogenic allelic variants of WT1 have been classically …
development. Heterozygous germline pathogenic allelic variants of WT1 have been classically …
Assembling the jigsaw puzzle: CBX 2 isoform 2 and its targets in disorders/differences of sex development
…, CR Gomes, BB Mendonca, NL Gomes… - Molecular genetics & …, 2018 - Wiley Online Library
Background One of the defining moments of human life occurs early during embryonic
development, when individuals sexually differentiate into either male or female. Perturbation of …
development, when individuals sexually differentiate into either male or female. Perturbation of …
Long‐term outcomes and molecular analysis of a large cohort of patients with 46, XY disorder of sex development due to partial gonadal dysgenesis
NL Gomes, AM Lerário, AZ Machado… - Clinical …, 2018 - Wiley Online Library
Background Follow‐up data on patients with 46, XY partial gonadal dysgenesis ( PGD ) until
adulthood are scarce, making information on prognosis difficult. Objective To analyse the …
adulthood are scarce, making information on prognosis difficult. Objective To analyse the …
A severe phenotype of Kennedy disease associated with a very large CAG repeat expansion.
…, ABC Souza, FS Cunha, RL Batista, NL Gomes… - Muscle & …, 2017 - europepmc.org
… Gomes NL 1 , … Querin G, Bertolin C, Da Re E, Volpe M, Zara G, Pegoraro E, Caretta N,
Foresta C, Silvano M, Corrado D, Iafrate M, Angelini L, Sartori L, Pennuto M, Gaiani A, Bello …
Foresta C, Silvano M, Corrado D, Iafrate M, Angelini L, Sartori L, Pennuto M, Gaiani A, Bello …
Intraoperative radiofrequency ablation for unresectable abdominal paraganglioma: a case report
IPA Magalhaes, BD Boger, NL Gomes… - Frontiers in …, 2024 - frontiersin.org
For pheochromocytoma and paraganglioma (PPGL), the efficacy of percutaneous ablative
therapies in achieving control of metastatic tumors measuring <3 cm had been demonstrated …
therapies in achieving control of metastatic tumors measuring <3 cm had been demonstrated …
DEAH-box helicase 37 (DHX37) defects are a novel molecular etiology of 46,XY gonadal dysgenesis spectrum
46, XY gonadal dysgenesis is a heterogeneous disorder of sex development (DSD) that
features abnormal gonadal development and varying degrees of undervirilization of the external …
features abnormal gonadal development and varying degrees of undervirilization of the external …
Low frequency of pathogenic allelic variants in the 46, XY differences of sex development (DSD)-related genes in small for gestational age children with hypospadias
Background Hypospadias is a congenital disorder of male genital formation where the urinary
opening is not on the head of the penis and genetic factors play an important role in the …
opening is not on the head of the penis and genetic factors play an important role in the …