Detalles de la búsqueda
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-34270938
2.
Vasculometabolic effects in patients with congenital growth hormone deficiency with and without GH replacement therapy during adulthood.
Pituitary
; 24(2): 216-228, 2021 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-33098037
3.
Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing.
J Pediatr
; 215: 192-198, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31630891
4.
Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes.
Clin Endocrinol (Oxf)
; 88(3): 425-431, 2018 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-29265571
5.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-29668062
6.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-28558376
7.
Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations.
Clin Endocrinol (Oxf)
; 87(6): 725-732, 2017 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-28734020
8.
HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype.
Clin Endocrinol (Oxf)
; 85(3): 408-14, 2016 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-27000987
9.
Quality of life of patients with 46,XX and 46,XY disorders of sex development.
Clin Endocrinol (Oxf)
; 82(2): 159-64, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-25040878
10.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-25074426
11.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-25315032
12.
Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly.
J Med Genet
; 51(6): 413-8, 2014 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-24744436
13.
Noonan syndrome associated with growth hormone deficiency with biallelic LZTR1 variants.
Genet Med
; 21(1): 260, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29959388
14.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-24664892
15.
Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly.
Clin Endocrinol (Oxf)
; 78(4): 551-7, 2013 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-22967285
16.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-22998174
17.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-37695807
18.
Homozygous CDH2 variant may be associated with hypopituitarism without neurological disorders.
Endocr Connect
; 12(8)2023 Jul 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-37166408
19.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-22887833
20.
Novel OTX2 loss of function variant associated with congenital hypopituitarism without eye abnormalities.
J Pediatr Endocrinol Metab
; 35(6): 831-835, 2022 Jun 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-35320640