Detalhe da pesquisa
1.
Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update.
J Med Genet
; 51(10): 635-45, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25118188
2.
Opposite effects on facial morphology due to gene dosage sensitivity.
Hum Genet
; 133(9): 1117-25, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24889830
3.
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.
Am J Hum Genet
; 89(5): 675-81, 2011 Nov 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-22077973
4.
Rapamycin inhibits smooth muscle cell proliferation and obstructive arteriopathy attributable to elastin deficiency.
Arterioscler Thromb Vasc Biol
; 33(5): 1028-35, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23493289
5.
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.
Am J Hum Genet
; 83(1): 106-11, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18565486
6.
Genome-wide high-resolution screening in Dupuytren's disease reveals common regions of DNA copy number alterations.
J Hand Surg Am
; 35(7): 1172-1183.e7, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20561756
7.
Ancestry of the AUTS2 family-A novel group of polycomb-complex proteins involved in human neurological disease.
PLoS One
; 15(12): e0232101, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33306672
8.
Hardy-Weinberg Equilibrium in the Large Scale Genomic Sequencing Era.
Front Genet
; 11: 210, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32231685
9.
GeVIR is a continuous gene-level metric that uses variant distribution patterns to prioritize disease candidate genes.
Nat Genet
; 52(1): 35-39, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31873297
10.
GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation.
Nat Commun
; 10(1): 127, 2019 01 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30631079
11.
Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome.
Hum Mutat
; 29(8): 1017-27, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18425797
12.
Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24.
Am J Med Genet A
; 146A(23): 3034-7, 2008 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19006212
13.
Functional basic reading skills in Williams syndrome.
Dev Neuropsychol
; 43(5): 454-477, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29601225
14.
In-depth analysis of spatial cognition in Williams syndrome: A critical assessment of the role of the LIMK1 gene.
Neuropsychologia
; 44(5): 679-85, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16216290
15.
Congenital heart disease: Molecular diagnostics of supravalvular aortic stenosis.
Methods Mol Med
; 126: 129-56, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16930010
16.
Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6.
Clin Dysmorphol
; 14(2): 61-65, 2005 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15770126
17.
Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.
Eur J Med Genet
; 58(9): 455-65, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26206081
18.
Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome.
Protein Sci
; 13(10): 2588-99, 2004 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-15388857
19.
Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome.
Eur J Hum Genet
; 12(7): 551-60, 2004 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15100712
20.
Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients.
J Neurodev Disord
; 6(1): 18, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25057328