Detalhe da pesquisa
1.
Recent Advances in Imprinting Disorders.
Clin Genet
; 91(1): 3-13, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27363536
2.
CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome.
J Med Genet
; 50(12): 823-30, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24065356
3.
Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency.
Nat Genet
; 25(2): 182-6, 2000 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-10835633
4.
Electronic reporting of rare endocrine conditions within a clinical network: results from the EuRRECa project.
Endocr Connect
; 12(12)2023 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37902973
5.
Maintenance of methylation profile in imprinting control regions in human induced pluripotent stem cells.
Clin Epigenetics
; 14(1): 190, 2022 12 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36578048
6.
Ovarian-sparing surgery for ovarian teratoma in children.
Pediatr Blood Cancer
; 57(3): 429-34, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21370434
7.
The current landscape of European registries for rare endocrine conditions.
Eur J Endocrinol
; 180(1): 89-98, 2019 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30407922
8.
CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development.
J Clin Endocrinol Metab
; 90(10): 5621-6, 2005 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16030162
9.
Pituitary stalk interruption syndrome: a clinical-biological-genetic assessment of its pathogenesis.
J Clin Endocrinol Metab
; 82(10): 3450-4, 1997 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-9329385
10.
Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene.
J Clin Endocrinol Metab
; 83(2): 432-6, 1998 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-9467553
11.
Human Prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency.
FEBS Lett
; 437(3): 216-20, 1998 Oct 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-9824293
12.
Pathophysiology of syndromic combined pituitary hormone deficiency due to a LHX3 defect in light of LHX3 and LHX4 expression during early human development.
Gene Expr Patterns
; 5(2): 279-84, 2004 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-15567726
13.
Dysgenesis of the internal carotid artery associated with transsphenoidal encephalocele: a neural crest syndrome?
AJNR Am J Neuroradiol
; 20(6): 1154-7, 1999.
Artigo
em Inglês
| MEDLINE | ID: mdl-10445462
14.
Beckwith-Wiedemann syndrome in association with posterior hypoplasia of the cerebellar vermis.
Prenat Diagn
; 29(9): 906-7, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19530105
15.
Beckwith-Wiedemann syndrome: growth pattern and tumor risk according to molecular mechanism, and guidelines for tumor surveillance.
Horm Res Paediatr
; 80(6): 457-65, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24335096
16.
Acute lymphocytic leukaemia in a child with Beckwith-Wiedemann syndrome harbouring a CDKN1C mutation.
Eur J Med Genet
; 53(6): 400-3, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20826236
17.
Epigenetics, genomic imprinting and assisted reproductive technology.
Ann Endocrinol (Paris)
; 71(3): 237-8, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20362968
18.
[Molecular pathology of the GHRH receptor]. / Pathologie moléculaire du récepteur du GHRH.
Arch Pediatr
; 7 Suppl 2: 221s-222s, 2000 May.
Artigo
em Francês
| MEDLINE | ID: mdl-10904718
19.
[Molecular pathology of transcription factors implicated in the development of the anterior hypophysis]. / Pathologie moléculaire des facteurs de transcription impliqués dans le développement de l'antéhypophyse.
Arch Pediatr
; 7 Suppl 2: 218s-220s, 2000 May.
Artigo
em Francês
| MEDLINE | ID: mdl-10904717
20.
Olfactory anomalies in CHARGE syndrome: imaging findings of a potential major diagnostic criterion.
AJNR Am J Neuroradiol
; 29(7): 1266-9, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18417599