Detalhe da pesquisa
1.
Multinodular goitre is a gateway for molecular testing of DICER1 syndrome.
Clin Endocrinol (Oxf)
; 91(5): 669-675, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31408196
2.
ETMR-like infantile cerebellar embryonal tumors in the extended morphologic spectrum of DICER1-related tumors.
Acta Neuropathol
; 137(1): 175-177, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30446821
3.
Obesity, Overweight, and Pituitary Stalk Interruption Syndrome in Children and Young Adults.
J Clin Endocrinol Metab
; 108(2): 323-330, 2023 01 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36201475
4.
SFE-AFCE-SFMN 2022 Consensus on the management of thyroid nodules : Thyroid nodules in children.
Ann Endocrinol (Paris)
; 83(6): 431-434, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36283462
5.
[New Inborn Errors of Metabolism added in the French program of neonatal screening]. / Les nouvelles maladies héréditaires du métabolisme du programme français de dépistage néonatal.
Med Sci (Paris)
; 37(5): 507-518, 2021 May.
Artigo
em Francês
| MEDLINE | ID: mdl-34003097
6.
Next-Generation Sequencing Analysis Reveals Frequent Familial Origin and Oligogenism in Congenital Hypothyroidism With Dyshormonogenesis.
Front Endocrinol (Lausanne)
; 12: 657913, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34248839
7.
Influence of growth hormone therapy on the occurrence of a second neoplasm in survivors of childhood cancer.
Eur J Endocrinol
; 183(4): 471-480, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32738133
8.
[DICER1 constitutional pathogenic variant syndrome: Where are we in 2019?] / Syndrome associé aux variants pathogènes constitutionnels de DICER1 : Où en sommes-nous en 2019 ?
Bull Cancer
; 106(12): 1177-1189, 2019 Dec.
Artigo
em Francês
| MEDLINE | ID: mdl-31610911
9.
Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial.
Lancet Diabetes Endocrinol
; 7(9): 695-706, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31377265
10.
Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome.
J Clin Endocrinol Metab
; 103(7): 2436-2446, 2018 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29659920
11.
Severe thyrotoxicosis in an infant revealing familial nonautoimmune hyperthyroidism with a novel (C672W) stimulating thyrotropin receptor germline mutation.
Clin Case Rep
; 5(12): 1980-1987, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29225840
12.
Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients.
J Clin Endocrinol Metab
; 102(1): 290-301, 2017 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27820671