Detalhe da pesquisa
1.
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
2.
Dental and craniofacial features associated with GNAS loss of function mutations.
Eur J Orthod
; 42(5): 525-533, 2020 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31696922
3.
Association of environmental markers with childhood type 1 diabetes mellitus revealed by a long questionnaire on early life exposures and lifestyle in a case-control study.
BMC Public Health
; 16(1): 1021, 2016 Sep 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-27682602
4.
Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3-q26.12 microdeletion encompassing EMX2.
Am J Med Genet A
; 164A(10): 2618-22, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24975717
5.
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
6.
Adult height improved over decades in patients with X-linked hypophosphatemia: a cohort study.
Eur J Endocrinol
; 189(4): 469-475, 2023 Oct 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37831782
7.
Disruption of a novel Kruppel-like transcription factor p300-regulated pathway for insulin biosynthesis revealed by studies of the c.-331 INS mutation found in neonatal diabetes mellitus.
J Biol Chem
; 286(32): 28414-24, 2011 Aug 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-21592955
8.
Growth hormone treatment improves final height in children with X-linked hypophosphatemia.
Orphanet J Rare Dis
; 17(1): 444, 2022 12 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36544157
9.
Presenting features and molecular genetics of primary hyperparathyroidism in the paediatric population.
Eur J Endocrinol
; 184(2): 347-355, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33361469
10.
Disorders of sex development and Diamond-Blackfan anemia: is there an association?
Pediatr Nephrol
; 25(7): 1255-61, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20358230
11.
Two-year recombinant human growth hormone (rhGH) treatment is more effective in pre-pubertal compared to pubertal short children with X-linked hypophosphatemic rickets (XLHR).
Growth Horm IGF Res
; 36: 11-15, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28822957
12.
Impaired sexual activity in male adults with partial androgen insensitivity.
J Clin Endocrinol Metab
; 91(9): 3310-5, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16757528