Detalhe da pesquisa
1.
High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency.
Am J Hum Genet
; 108(8): 1526-1539, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34270938
2.
Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis.
Clin Endocrinol (Oxf)
; 89(2): 164-177, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29668062
3.
Long-Term Outcomes of Patients with Central Precocious Puberty due to Hypothalamic Hamartoma after GnRHa Treatment: Anthropometric, Metabolic, and Reproductive Aspects.
Neuroendocrinology
; 106(3): 203-210, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-28558376
4.
HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype.
Clin Endocrinol (Oxf)
; 85(3): 408-14, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27000987
5.
Quality of life of patients with 46,XX and 46,XY disorders of sex development.
Clin Endocrinol (Oxf)
; 82(2): 159-64, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25040878
6.
Quality of life in a large cohort of adult Brazilian patients with 46,XX and 46,XY disorders of sex development from a single tertiary centre.
Clin Endocrinol (Oxf)
; 82(2): 274-9, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25074426
7.
Frequent development of combined pituitary hormone deficiency in patients initially diagnosed as isolated growth hormone deficiency: a long term follow-up of patients from a single center.
Pituitary
; 18(4): 561-7, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25315032
8.
Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly.
J Med Genet
; 51(6): 413-8, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24744436
9.
Noonan syndrome associated with growth hormone deficiency with biallelic LZTR1 variants.
Genet Med
; 21(1): 260, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29959388
10.
The E180splice mutation in the GHR gene causing Laron syndrome: witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?
Am J Med Genet A
; 164A(5): 1204-8, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24664892
11.
Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly.
Clin Endocrinol (Oxf)
; 78(4): 551-7, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22967285
12.
Analysis of the insulin-like growth factor 1 receptor gene in children born small for gestational age: in vitro characterization of a novel mutation (p.Arg511Trp).
Clin Endocrinol (Oxf)
; 78(4): 558-63, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22998174
13.
Identification of a second genetic alteration in patients with SHOX deficiency individuals: a potential explanation for phenotype variability.
Eur J Endocrinol
; 189(3): 387-395, 2023 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37695807
14.
Homozygous CDH2 variant may be associated with hypopituitarism without neurological disorders.
Endocr Connect
; 12(8)2023 Jul 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37166408
15.
Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway.
Am J Med Genet A
; 158A(11): 2700-6, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22887833
16.
Adult Height of Patients with SHOX Haploinsufficiency with or without GH Therapy: A Real-World Single-Center Study.
Horm Res Paediatr
; 95(3): 264-274, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35390795
17.
Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development.
J Clin Endocrinol Metab
; 107(5): e1797-e1806, 2022 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35134971
18.
Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature.
Endocr Connect
; 11(12)2022 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36373817
19.
Adult Height in 299 Patients with Turner Syndrome with or without Growth Hormone Therapy: Results and Literature Review.
Horm Res Paediatr
; 94(1-2): 63-70, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34134112
20.
The phenotypic spectrum associated with OTX2 mutations in humans.
Eur J Endocrinol
; 185(1): 121-135, 2021 05 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33950863