Detalhe da pesquisa
1.
Height and body mass index in molecularly confirmed Silver-Russell syndrome and the long-term effects of growth hormone treatment.
Clin Endocrinol (Oxf)
; 97(3): 284-292, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35261046
2.
Increasing knowledge in IGF1R defects: lessons from 35 new patients.
J Med Genet
; 57(3): 160-168, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31586944
3.
Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences.
J Med Genet
; 55(3): 205-213, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29223973
4.
New clinical and molecular insights into Silver-Russell syndrome.
Curr Opin Pediatr
; 28(4): 529-35, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27386972
5.
Premature pubarche before one year of age: distinguishing between mini-puberty variants and precocious puberty.
Med Sci Monit
; 21: 955-63, 2015 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25832117
6.
Perinatal features of children with Silver-Russell syndrome due to 11p15 loss of methylation.
Front Pediatr
; 12: 1367433, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38638586
7.
Imprinting disorders.
Nat Rev Dis Primers
; 9(1): 33, 2023 Jun 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37386011
8.
IGF2: Development, Genetic and Epigenetic Abnormalities.
Cells
; 11(12)2022 06 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35741015
9.
Dental pulp stem cells as a promising model to study imprinting diseases.
Int J Oral Sci
; 14(1): 19, 2022 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35368018
10.
Impact of claudin-10 deficiency on amelogenesis: Lesson from a HELIX tooth.
Ann N Y Acad Sci
; 1516(1): 197-211, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35902997
11.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-34276055
12.
Demographic Characteristics, Risk Factors, and Presenting Features of Children with Symptomatic Nutritional Rickets: A French Series.
Horm Res Paediatr
; 93(5): 304-312, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33120384
13.
Sleep disordered breathing in Silver-Russell syndrome patients: a new outcome.
Sleep Med
; 64: 23-29, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31655321
14.
Overgrowth syndromes - clinical and molecular aspects and tumour risk.
Nat Rev Endocrinol
; 15(5): 299-311, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30842651
15.
Roles of Type 1 Insulin-Like Growth Factor (IGF) Receptor and IGF-II in Growth Regulation: Evidence From a Patient Carrying Both an 11p Paternal Duplication and 15q Deletion.
Front Endocrinol (Lausanne)
; 10: 263, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31114545
16.
Transcriptional profiling at the DLK1/MEG3 domain explains clinical overlap between imprinting disorders.
Sci Adv
; 5(2): eaau9425, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30801013
17.
Diagnosis and management of postnatal fetal growth restriction.
Best Pract Res Clin Endocrinol Metab
; 32(4): 523-534, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30086872
18.
Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome.
J Clin Endocrinol Metab
; 103(7): 2436-2446, 2018 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29659920
19.
Imprinted disorders and growth.
Ann Endocrinol (Paris)
; 78(2): 112-113, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28478949
20.
Diagnosis and management of Silver-Russell syndrome: first international consensus statement.
Nat Rev Endocrinol
; 13(2): 105-124, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27585961