Detalhe da pesquisa
1.
Expanding the mutational spectrum of monogenic hypogonadotropic hypogonadism: novel mutations in ANOS1 and FGFR1 genes.
Reprod Biol Endocrinol
; 18(1): 8, 2020 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-31996231
2.
Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population.
BMC Endocr Disord
; 17(1): 52, 2017 Aug 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-28821302
3.
Autocrine androgen action is essential for Leydig cell maturation and function, and protects against late-onset Leydig cell apoptosis in both mice and men.
FASEB J
; 29(3): 894-910, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25404712
4.
Volume of the normal prostate gland in polish boys, aged 1-17 years: Based on transabdominal ultrasound - Prospective study.
J Pediatr Urol
; 2023 Dec 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38158283
5.
New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism.
Arch Med Sci
; 18(2): 353-364, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35316923
6.
Endocrine disorders in a patient with a suspicion of a mitochondrial disease, MELAS syndrome - a case report and literature review.
Pediatr Endocrinol Diabetes Metab
; 27(3): 213-218, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34596368
7.
The risk of mental disorders in patients with disorders/differences of sex differentiation/development (DSD) and Y chromosome.
Endokrynol Pol
; 71(2): 168-175, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32129466
8.
Risk of gonadal neoplasia in patients with disorders/differences of sex development.
Cancer Epidemiol
; 69: 101800, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32905884
9.
Porto-systemic shunt - a rare cause of hyperandrogenism in children. Two case reports and review of literature.
J Pediatr Endocrinol Metab
; 2020 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-32651988
10.
Identification of gene variants in a cohort of hypogonadotropic hypogonadism: Diagnostic utility of custom NGS panel and WES in unravelling genetic complexity of the disease.
Mol Cell Endocrinol
; 517: 110968, 2020 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32763379
11.
Response to the attached letter to the Editor regarding the article to "Volume of the normal prostate gland in polish boys, aged 1-17 years: Based on transabdominal ultrasound - Prospective study".
J Pediatr Urol
; 2024 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38403512
12.
A Case of Two Sisters Suffering from 46,XY Gonadal Dysgenesis and Carrying a Mutation of a Novel Candidate Sex-Determining Gene STARD8 on the X Chromosome.
Sex Dev
; 12(4): 191-195, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29886504
13.
A psychosexual follow-up study of patients with mixed or partial gonadal dysgenesis.
J Pediatr Adolesc Gynecol
; 20(6): 333-8, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18082854
14.
[Anti-Müllerian hormone (AMH) measurements in the assessment of testicular function in prepubertal boys and in sexual differentiation disorders]. / Zastosowanie oznaczania hormonu antymillerowskiego w ocenie czynnosci jader przed okresem dojrzewania i w diagnostyce zaburzen róznicowania narzadów plciowych.
Endokrynol Diabetol Chor Przemiany Materii Wieku Rozw
; 12(3): 195-9, 2006.
Artigo
em Polonês
| MEDLINE | ID: mdl-17020655
15.
[Estimation of the correlation of insulin resistance and selected adipocytokines in children with simple obesity--preliminary study]. / Ocena zwiazku insulinoopornosci z wybranymi adipocytokinami u dzieci z otyloscia prosta--badania wstepne.
Endokrynol Diabetol Chor Przemiany Materii Wieku Rozw
; 12(3): 211-5, 2006.
Artigo
em Polonês
| MEDLINE | ID: mdl-17020658
16.
The risk of neoplasm associated with dysgenetic testes in prepubertal and pubertal/adult patients.
Folia Histochem Cytobiol
; 53(3): 218-26, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26314751
17.
Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.
J Clin Endocrinol Metab
; 97(2): E257-67, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22162478
18.
Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.
J Clin Endocrinol Metab
; 96(3): E453-62, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21190981
19.
High prevalence of primary ovarian insufficiency in girls and young women with Nijmegen breakage syndrome: evidence from a longitudinal study.
J Clin Endocrinol Metab
; 95(7): 3133-40, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20444919
20.
Concomitant mutations in the P450 oxidoreductase and androgen receptor genes presenting with 46,XY disordered sex development and androgenization at adrenarche.
J Clin Endocrinol Metab
; 95(7): 3418-27, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20410220