Detalhe da pesquisa
1.
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
Am J Med Genet A
; 191(5): 1227-1239, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36751037
2.
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.
Hum Genet
; 140(7): 1061-1076, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811546
3.
Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate.
Am J Hum Genet
; 102(6): 1143-1157, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29805042
4.
Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans.
Hum Mutat
; 40(10): 1813-1825, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31215115
5.
A distal 594â bp ECR specifies Hmx1 expression in pinna and lateral facial morphogenesis and is regulated by the Hox-Pbx-Meis complex.
Development
; 143(14): 2582-92, 2016 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27287804
6.
In-silico QTL mapping of postpubertal mammary ductal development in the mouse uncovers potential human breast cancer risk loci.
Mamm Genome
; 26(1-2): 57-79, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25552398
7.
Triplication of the interferon receptor locus contributes to hallmarks of Down syndrome in a mouse model.
Nat Genet
; 55(6): 1034-1047, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37277650
8.
Isolation and characterisation of the chick orthologue of the Opitz syndrome gene, Mid1, supports a conserved role in vertebrate development.
Int J Dev Biol
; 46(4): 441-8, 2002.
Artigo
em Inglês
| MEDLINE | ID: mdl-12141430
9.
The major splice variant of human 5-aminolevulinate synthase-2 contributes significantly to erythroid heme biosynthesis.
Int J Biochem Cell Biol
; 36(2): 281-95, 2004 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-14643893
10.
Microtomographic analysis of lower urinary tract obstruction.
Pediatr Dev Pathol
; 16(6): 405-14, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23977847
11.
A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in development.
Genome Biol
; 9(12): R182, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-19099580