Detalhe da pesquisa
1.
SRY-negative 46,XX testicular/ovotesticular DSD: Long-term outcomes and early blockade of gonadotropic axis.
Clin Endocrinol (Oxf)
; 94(4): 667-676, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33296530
2.
Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome.
Genet Med
; 22(1): 150-159, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31337883
3.
Mutations in BOREALIN cause thyroid dysgenesis.
Hum Mol Genet
; 26(3): 599-610, 2017 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28025328
4.
Refeeding in anorexia nervosa.
Eur J Pediatr
; 178(3): 413-422, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30483963
5.
Growth impairment and limited range of joint motion in children should raise suspicion of an attenuated form of mucopolysaccharidosis: expert opinion.
Eur J Pediatr
; 178(4): 593-603, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740618
6.
Early postnatal growth and neurodevelopment in children born moderately preterm or small for gestational age at term: A systematic review.
Paediatr Perinat Epidemiol
; 32(3): 268-280, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29691880
7.
A new efficient method to monitor precocious puberty nationwide in France.
Eur J Pediatr
; 177(2): 251-255, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28975428
8.
Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouse.
PLoS Biol
; 12(9): e1001952, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25248098
9.
High-resolution heavily T2-weighted magnetic resonance imaging for evaluation of the pituitary stalk in children with ectopic neurohypophysis.
Pediatr Radiol
; 47(5): 599-605, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28255689
10.
Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome.
Hum Reprod
; 31(4): 782-8, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26874361
11.
Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.
Genet Med
; 17(8): 651-9, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25394172
12.
Hormone Therapy During Infancy or Early Childhood for Patients with Hypogonadotropic Hypogonadism, Klinefelter or Turner Syndrome: Has the Time Come?
Endocrinol Metab Clin North Am
; 53(2): 307-320, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38677872
13.
Diagnosis and management of congenital hypopituitarism in children.
Arch Pediatr
; 31(3): 165-171, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38538470
14.
Unilateral cryptorchidism in mice mutant for Ptgds.
Hum Mutat
; 34(2): 278-82, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23076868
15.
Intermittent hyperglycemia due to autonomic nervous system dysfunction: a new feature in patients with congenital central hypoventilation syndrome.
J Pediatr
; 162(1): 171-6.e2, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22863257
16.
Gonadotropin administration to mimic mini-puberty in hypogonadotropic males: pump or injections?
Endocr Connect
; 12(4)2023 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36724045
17.
Exploring the values, preferences, and information needs of patients with NKX2-1-related disorders: A qualitative study protocol.
PLoS One
; 18(2): e0281573, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36758103
18.
Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease.
J Clin Endocrinol Metab
; 108(4): 812-826, 2023 03 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36321535
19.
Human type I IFN deficiency does not impair B cell response to SARS-CoV-2 mRNA vaccination.
J Exp Med
; 220(1)2023 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36342455
20.
Fetal and Neonatal Thyroid Dysfunction.
J Clin Endocrinol Metab
; 107(3): 836-846, 2022 02 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34636892