Detalhe da pesquisa
1.
Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants.
Cell
; 180(6): 1262-1271.e15, 2020 03 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-32169219
2.
Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling.
Genet Med
; 24(8): 1708-1721, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35583550
3.
Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort.
Clin Genet
; 99(4): 519-528, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33368193
4.
Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformations.
Hum Mutat
; 41(1): 222-239, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31502745
5.
TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A.
Hum Mutat
; 41(7): 1220-1225, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32227665
6.
Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication.
Neurogenetics
; 21(1): 67-72, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31823155
7.
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.
Mol Psychiatry
; 24(11): 1748-1768, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29728705
8.
In cases of familial primary ovarian insufficiency and disorders of gonadal development, consider NR5A1/SF-1 sequence variants.
Reprod Biomed Online
; 40(1): 151-159, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31831369
9.
WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature.
Am J Med Genet A
; 179(7): 1351-1356, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31050392
10.
Difficulties adapting to Nail-Patella syndrome: A qualitative study of patients' perspectives.
J Genet Couns
; 28(5): 1011-1020, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31313463
11.
Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.
Genet Med
; 19(9): 1013-1021, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28301459
12.
The Subjective Experience of Patients Diagnosed with Hereditary Hemorrhagic Telangiectasia: a Qualitative Study.
J Genet Couns
; 26(3): 612-619, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27796677
13.
Confirmation of risk of cancer in blepharocheilodontic syndrome.
Genet Med
; 22(10): 1727-1728, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32483297
14.
ELN gene triplication responsible for familial supravalvular aortic aneurysm.
Cardiol Young
; 25(4): 712-7, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24932728
15.
Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.
Hum Mutat
; 35(4): 478-85, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24470203
16.
Pathogenesis of congenital diaphragmatic hernia: additional clues regarding the involvement of the endothelin system.
Am J Med Genet A
; 164A(1): 208-12, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24352915
17.
Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10.
Am J Med Genet A
; 164A(9): 2344-50, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24845202
18.
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.
J Med Genet
; 49(12): 737-46, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23188108
19.
Executive functioning in adolescents and adults with Silver-Russell syndrome.
PLoS One
; 18(1): e0279745, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36662731
20.
Congenital malformations of the hand and forearm in children: what radiologists should know.
Semin Musculoskelet Radiol
; 16(2): 146-58, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22648430