Detalhe da pesquisa
1.
Tissue- and ethnicity-independent hypervariable DNA methylation states show evidence of establishment in the early human embryo.
Nucleic Acids Res
; 50(12): 6735-6752, 2022 07 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35713545
2.
Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood.
J Med Genet
; 57(10): 683-691, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32054688
3.
Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.
PLoS Genet
; 13(1): e1006470, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28081210
4.
Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate.
Am J Hum Genet
; 98(4): 755-62, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27018475
5.
Maternal mutations of FOXF1 cause alveolar capillary dysplasia despite not being imprinted.
Hum Mutat
; 38(6): 615-620, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28256047
6.
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.
Am J Hum Genet
; 95(5): 611-21, 2014 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25439728
7.
Maternal inheritance of a promoter variant in the imprinted PHLDA2 gene significantly increases birth weight.
Am J Hum Genet
; 90(4): 715-9, 2012 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-22444668
8.
Analysis of genetic variability in Turner syndrome linked to long-term clinical features.
Front Endocrinol (Lausanne)
; 14: 1227164, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37800145
9.
Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome.
Front Endocrinol (Lausanne)
; 13: 953707, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36060959
10.
Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency.
JCI Insight
; 7(5)2022 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35138268
11.
Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity.
Eur J Endocrinol
; 183(6): 581-595, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33055295
12.
Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations.
Sci Rep
; 10(1): 13763, 2020 08 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-32792680
13.
Analysis of CDKN1C in fetal growth restriction and pregnancy loss.
F1000Res
; 8: 90, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31497289
14.
Recognition of lectin with a high signal to noise ratio: carbohydrate-tri(ethylene glycol)-alkanethiol co-adsorbed monolayer.
Chem Commun (Camb)
; (40): 4909-11, 2008 Oct 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-18931735
15.
The speech gene FOXP2 is not imprinted.
J Med Genet
; 49(11): 669-70, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23033221
16.
Genetic Analyses in Small-for-Gestational-Age Newborns.
J Clin Endocrinol Metab
; 103(3): 917-925, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29342293
17.
Effects of inclusion levels of pelleted silvergrass (Miscanthus sinensis Andress.) in the diet on digestibility, chewing activity, ruminal fermentation and blood metabolites in breeding Japanese Black cows.
Anim Sci J
; 88(3): 468-475, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27444406
18.
New developments in Silver-Russell syndrome and implications for clinical practice.
Epigenomics
; 8(4): 563-80, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27066913
19.
The role and interaction of imprinted genes in human fetal growth.
Philos Trans R Soc Lond B Biol Sci
; 370(1663): 20140074, 2015 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25602077
20.
Paternally expressed, imprinted insulin-like growth factor-2 in chorionic villi correlates significantly with birth weight.
PLoS One
; 9(1): e85454, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24454871