Detalhe da pesquisa
1.
Pulp chamber features, prevalence of abscesses, disease severity, and PHEX mutation in X-linked hypophosphatemic rickets.
J Bone Miner Metab
; 39(2): 212-223, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32772199
2.
Complete Androgen Insensitivity Syndrome: From Bench to Bed.
Int J Mol Sci
; 22(3)2021 Jan 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33514065
3.
Convergent pathological and ultrasound features in hereditary syndromic and non-syndromic minifascicular neuropathy related to DHH.
J Peripher Nerv Syst
; 25(4): 423-428, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33107133
4.
Molecular Aspects of Sex Development in Mammals: New Insight for Practice.
Int J Mol Sci
; 21(23)2020 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33266346
5.
Quantification of dehydroepiandrosterone in human serum on a routine basis: development and validation of a tandem mass spectrometry method based on a surrogate analyte.
Anal Bioanal Chem
; 410(2): 407-416, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29110028
6.
Adult height after spontaneous pubertal growth or GnRH analog treatment in girls with early puberty: a meta-analysis.
Eur J Pediatr
; 176(6): 697-704, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28364286
7.
Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description.
BMC Med Genet
; 16: 53, 2015 Jul 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-26204956
8.
Quality of Life and Psychological Adjustment of Women Living with 46,XY Differences of Sex Development.
J Sex Med
; 12(6): 1440-9, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25893774
9.
Pamidronate treatment stimulates the onset of recovery phase reducing fracture rate and skeletal deformities in patients with idiopathic juvenile osteoporosis: comparison with untreated patients.
J Bone Miner Metab
; 31(5): 533-43, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23549954
10.
In Tandem Intragenic Duplication of Doublesex and Mab-3-Related Transcription Factor 1 (DMRT1) in an SRY-Negative Boy with a 46,XX Disorder of Sex Development.
Genes (Basel)
; 14(11)2023 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38003010
11.
Central precocious puberty: treatment with triptorelin 11.25 mg.
ScientificWorldJournal
; 2012: 583751, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22645436
12.
Enhancing DLG2 Implications in Neuropsychiatric Disorders: Analysis of a Cohort of Eight Patients with 11q14.1 Imbalances.
Genes (Basel)
; 13(5)2022 05 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35627244
13.
Thallium Contamination of Drinking Water: Health Implications in a Residential Cohort Study in Tuscany (Italy).
Int J Environ Res Public Health
; 18(8)2021 04 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33921453
14.
Management of patients with X-linked hypophosphatemic rickets during Covid-19 pandemic lockdown.
J Pediatr Endocrinol Metab
; 34(7): 905-910, 2021 Jul 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33887813
15.
Disorders/Differences of Sex Development Presenting in the Newborn With 46,XY Karyotype.
Front Pediatr
; 9: 627281, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33968844
16.
Testosterone Therapy and Its Monitoring in Adolescent Boys with Hypogonadism: Results of an International Survey from the I-DSD Registry.
Sex Dev
; 15(4): 236-243, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34350903
17.
Gonadectomy in conditions affecting sex development: a registry-based cohort study.
Eur J Endocrinol
; 184(6): 791-801, 2021 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33780351
18.
Genital sanguineous discharge in prepuberty: a case of mullerian papilloma of vagina in a nine-year-old girl.
J Pediatr Endocrinol Metab
; 23(8): 831-2, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21073126
19.
Human biomonitoring to assess exposure to thallium following the contamination of drinking water.
PLoS One
; 15(10): e0241223, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33119651
20.
Adolescent Gynecomastia due to Minimal Androgen Resistance Syndrome: A Case Report and Literature Review.
Sex Dev
; 14(1-6): 21-26, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33691326