Detalhe da pesquisa
1.
DISP1 deficiency: monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.
Genet Med
; : 101126, 2024 Mar 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38529886
2.
Primary Failure of Dental Eruption Due to Variants Parathyroid Hormone Receptor 1: Retrospective Study and Proposal of Guidelines Treatment.
J Craniofac Surg
; 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38299863
3.
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Genet Med
; 25(9): 100883, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37154149
4.
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
Clin Genet
; 104(5): 554-563, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37580112
5.
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
6.
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.
Clin Genet
; 101(5-6): 494-506, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35170016
7.
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.
Am J Med Genet A
; 188(12): 3492-3504, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36135330
8.
Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.
Am J Med Genet A
; 188(7): 2036-2047, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35445792
9.
The natural history of a family with aortic dissection associated with a novel ACTA2 variant.
Ann Vasc Surg
; 77: 348.e7-348.e11, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34437965
10.
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
11.
Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient.
Clin Genet
; 97(5): 723-730, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31898322
12.
Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.
Am J Med Genet B Neuropsychiatr Genet
; 177(4): 397-405, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29603867
13.
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
14.
Parenting stress and needs for social support in mothers and fathers of deaf or hard of hearing children.
Front Psychol
; 14: 1229420, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37720653
15.
Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants.
Eur J Hum Genet
; 27(3): 360-368, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30552424
16.
19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.
Eur J Hum Genet
; 26(1): 85-93, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29184170
17.
Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder.
Eur J Hum Genet
; 25(8): 1011-1014, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28589944
18.
15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.
Eur J Med Genet
; 58(3): 140-7, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25596525