Detalhe da pesquisa
1.
Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
Genet Med
; 23(7): 1315-1324, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33864021
2.
Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
Genet Med
; 23(7): 1376-1377, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34040196
3.
Two cases with de novo 3q26.31 microdeletion suggest a role for FNDC3B in human craniofacial development.
Am J Med Genet A
; 170(12): 3276-3281, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27541078
4.
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.
Am J Hum Genet
; 90(5): 925-33, 2012 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-22541558
5.
Clinical features associated with copy number variations of the 14q32 imprinted gene cluster.
Am J Med Genet A
; 167A(2): 345-53, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25756153
6.
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Hum Mutat
; 33(1): 165-79, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21948486
7.
The Cdc42 guanine nucleotide exchange factor FGD1 regulates osteogenesis in human mesenchymal stem cells.
Am J Pathol
; 178(3): 969-74, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21356349
8.
Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome.
J Med Genet
; 47(3): 155-61, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19833603
9.
Unilateral frontosphenoidal craniosynostosis with achondroplasia: a case report.
Cleft Palate Craniofac J
; 48(5): 631-5, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20839967
10.
Molecular and clinical delineation of the 17q22 microdeletion phenotype.
Eur J Hum Genet
; 21(10): 1085-92, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23361222
11.
Tracking clinical genetic services for newborns identified through newborn dried bloodspot screening in the United States-lessons learned.
J Community Genet
; 2(4): 191-200, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22109872
12.
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.
Nat Genet
; 42(3): 203-9, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20154674
13.
Faciogenital dysplasia protein (FGD1) regulates export of cargo proteins from the golgi complex via Cdc42 activation.
Mol Biol Cell
; 20(9): 2413-27, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19261807
14.
Oculo-facio-cardio-dental syndrome: skewed X chromosome inactivation in mother and daughter suggest X-linked dominant Inheritance.
Am J Med Genet A
; 123A(3): 261-6, 2003 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-14608648
15.
Effect of Fgd1 on cortactin in Arp2/3 complex-mediated actin assembly.
Biochemistry
; 43(9): 2422-7, 2004 Mar 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-14992579
16.
Interrupted aortic arch in a child with trisomy 5q31.1q35.1 due to a maternal (20;5) balanced insertion.
Am J Med Genet A
; 116A(3): 268-71, 2003 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-12503105
17.
Fgd1, the Cdc42 GEF responsible for Faciogenital Dysplasia, directly interacts with cortactin and mAbp1 to modulate cell shape.
Hum Mol Genet
; 12(16): 1981-93, 2003 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-12913069