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1.
Insights from the genetic characterization of central precocious puberty associated with multiple anomalies.
Hum Reprod
; 36(2): 506-518, 2021 01 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-33313884
2.
Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.
Hum Mutat
; 40(11): 2033-2043, 2019 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31231873
3.
Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD.
Hum Mol Genet
; 25(3): 472-83, 2016 Feb 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-26612202
4.
Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism.
Clin Endocrinol (Oxf)
; 82(6): 876-84, 2015 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-25557026
5.
IGF2: Development, Genetic and Epigenetic Abnormalities.
Cells
; 11(12)2022 06 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-35741015
6.
Dental pulp stem cells as a promising model to study imprinting diseases.
Int J Oral Sci
; 14(1): 19, 2022 04 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-35368018
7.
Low Maternal DLK1 Levels at 26 Weeks Is Associated With Small for Gestational Age at Birth.
Front Endocrinol (Lausanne)
; 13: 836731, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35295988
8.
A novel POU1F1 mutation (p.Thr168IlefsX7) associated with an early and severe form of combined pituitary hormone deficiency: functional analysis and follow-up from infancy to adulthood.
Clin Endocrinol (Oxf)
; 75(2): 214-9, 2011 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-21521297
9.
Screening of patients born small for gestational age with the Silver-Russell syndrome phenotype for DLK1 variants.
Eur J Hum Genet
; 29(12): 1756-1761, 2021 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-34276055
10.
Oriented scanning is the leading mechanism underlying 5' splice site selection in mammals.
PLoS Genet
; 2(9): e138, 2006 Sep 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-16948532
11.
Transcriptional profiling at the DLK1/MEG3 domain explains clinical overlap between imprinting disorders.
Sci Adv
; 5(2): eaau9425, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30801013
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-27820671
13.
Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities.
J Clin Endocrinol Metab
; 91(11): 4528-36, 2006 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-16940453
14.
Alu-element insertion in the homeodomain of HESX1 and aplasia of the anterior pituitary.
Hum Mutat
; 25(5): 503, 2005 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-15841484
15.
Complex disease phenotype revealed by GH deficiency associated with a novel and unusual defect in the GH-1 gene.
Clin Endocrinol (Oxf)
; 69(1): 170-2, 2008 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-18088397
16.
Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes.
EBioMedicine
; 36: 390-400, 2018 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-30266296
17.
Symptomatic heterozygotes and prenatal diagnoses in a nonconsanguineous family with syndromic combined pituitary hormone deficiency resulting from two novel LHX3 mutations.
J Clin Endocrinol Metab
; 97(3): E503-9, 2012 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-22238406
18.
Screening of LHX2 in patients presenting growth retardation with posterior pituitary and ocular abnormalities.
Eur J Endocrinol
; 167(1): 85-91, 2012 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-22535646
19.
Unusual phenotypic features in a patient with a novel splice mutation in the GHRHR gene.
Mol Med
; 14(5-6): 286-92, 2008.
Artículo
en Inglés
| MEDLINE | ID: mdl-18297129
20.
Factor VII gene intronic mutation in a lethal factor VII deficiency: effects on splice-site selection.
Blood
; 102(2): 561-3, 2003 Jul 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-12676783
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