Detalhe da pesquisa
1.
Combining metabolomics and machine learning models as a tool to distinguish non-classic 21-hydroxylase deficiency from polycystic ovary syndrome without adrenocorticotropic hormone testing.
Hum Reprod
; 38(2): 266-276, 2023 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36427016
2.
Increasing knowledge in IGF1R defects: lessons from 35 new patients.
J Med Genet
; 57(3): 160-168, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31586944
3.
Association of Maternal First Trimester Serum Levels of Free Beta Human Chorionic Gonadotropin and Hypospadias: A Population Based Study.
J Urol
; 203(5): 1017-1023, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31855125
4.
Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome.
Nat Genet
; 37(9): 1003-7, 2005 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16086014
5.
Changes in the clinical management of 5α-reductase type 2 and 17ß-hydroxysteroid dehydrogenase type 3 deficiencies in France.
Endocr Connect
; 12(3)2023 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36606580
6.
Analysis of a pitfall in congenital adrenal hyperplasia newborn screening: evidence of maternal use of corticoids detected on dried blood spot.
Endocr Connect
; 11(6)2022 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35521805
7.
A proof of concept of a machine learning algorithm to predict late-onset 21-hydroxylase deficiency in children with premature pubic hair.
J Steroid Biochem Mol Biol
; 220: 106085, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35292353
8.
Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol).
Orphanet J Rare Dis
; 17(Suppl 1): 261, 2022 07 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35821070
9.
Age at diagnosis in patients with chronic congenital endocrine conditions: a regional cohort study from a reference center for rare diseases.
Orphanet J Rare Dis
; 16(1): 469, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34736502
10.
Position statement on the diagnosis and management of premature/primary ovarian insufficiency (except Turner Syndrome).
Ann Endocrinol (Paris)
; 82(6): 555-571, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34508691
11.
Frequency and Incidence of Carney Complex Manifestations: A Prospective Multicenter Study With a Three-Year Follow-Up.
J Clin Endocrinol Metab
; 105(3)2020 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31912137
12.
Perrault syndrome: report of four new cases, review and exclusion of candidate genes.
Am J Med Genet A
; 146A(5): 661-4, 2008 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18241061
13.
Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit.
Endocr Connect
; 7(3): 395-402, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29420188
14.
11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations.
J Clin Endocrinol Metab
; 92(8): 3148-54, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17504900
15.
Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients.
Clin Dysmorphol
; 16(4): 247-52, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17786116
16.
Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias.
Sex Dev
; 11(5-6): 293-297, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29332064
17.
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome with renal failure: impact of posttransplant immunosuppression on disease activity.
J Clin Endocrinol Metab
; 91(1): 192-5, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16263818
18.
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.
Eur J Hum Genet
; 14(6): 773-9, 2006 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-16570074
19.
Phenotypic variation of SF1 gene mutations.
Adv Exp Med Biol
; 707: 67-72, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21691958
20.
Acceptance of a reusable self-injection device for recombinant human growth hormone: final data from a questionnaire-based, cross-sectional, international, multicenter, observational study in pediatric patients.
Med Devices (Auckl)
; 9: 317-24, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27660496