Detalhe da pesquisa
1.
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.
Am J Hum Genet
; 105(3): 640-657, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31402090
2.
Redefining the Etiologic Landscape of Cerebellar Malformations.
Am J Hum Genet
; 105(3): 606-615, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31474318
3.
Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome.
Genome Res
; 27(8): 1323-1335, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28630177
4.
Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis.
Am J Hum Genet
; 99(6): 1338-1352, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27839872
5.
Enabling research with human embryonic and fetal tissue resources.
Development
; 142(18): 3073-6, 2015 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26395135
6.
Distinct expression patterns for type II topoisomerases IIA and IIB in the early foetal human telencephalon.
J Anat
; 228(3): 452-63, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26612825
7.
Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.
Am J Hum Genet
; 84(5): 698-705, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19409524
8.
Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability.
J Med Genet
; 48(1): 48-54, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20972252
9.
Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways.
Am J Hum Genet
; 82(2): 304-19, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18252212
10.
Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss.
Hum Mol Genet
; 17(14): 2150-9, 2008 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18407919
11.
Comparison of Iroquois gene expression in limbs/fins of vertebrate embryos.
J Anat
; 216(6): 683-91, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20408909
12.
Neuronal function of Tbx20 conserved from nematodes to vertebrates.
Dev Biol
; 317(2): 671-85, 2008 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18358469
13.
CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2, and pre-B-cell leukemia transcription factor 1 in human adrenal development and disease.
J Clin Endocrinol Metab
; 94(2): 678-83, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18984668
14.
Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.
Hum Genet
; 126(6): 791-803, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19685247
15.
Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum.
Science
; 366(6464): 454-460, 2019 10 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-31624095
16.
SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development.
J Clin Endocrinol Metab
; 93(5): 1865-73, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18285410
17.
Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation.
J Med Genet
; 44(6): 373-80, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17237123
18.
Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development.
Birth Defects Res
; 110(5): 443-455, 2018 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29316344
19.
A genomic atlas of human adrenal and gonad development.
Wellcome Open Res
; 2: 25, 2017 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28459107
20.
Analysis of LIN28A in early human ovary development and as a candidate gene for primary ovarian insufficiency.
Mol Cell Endocrinol
; 351(2): 264-8, 2012 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-22240064