Detalhe da pesquisa
1.
The prevalence and phenotypic range associated with biallelic PKDCC variants.
Clin Genet
; 104(1): 121-126, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36896672
2.
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Lancet
; 393(10173): 747-757, 2019 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-30712880
3.
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
Genet Med
; 22(9): 1498-1506, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32499606
4.
Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
Genet Med
; 22(9): 1567, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32636483
5.
Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans.
Hum Mol Genet
; 26(11): 2118-2132, 2017 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28369379
6.
ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.
Am J Med Genet A
; 179(4): 615-627, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30758909
7.
Variable skeletal phenotypes associated with biallelic variants in PRKG2.
J Med Genet
; 59(10): 947-950, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34782440
8.
Diagnostic value of exome and whole genome sequencing in craniosynostosis.
J Med Genet
; 54(4): 260-268, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27884935
9.
The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.
Hum Mol Genet
; 21(17): 3765-75, 2012 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22661499
10.
Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome.
BMC Med Genet
; 15: 95, 2014 Aug 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-25174698
11.
The fibroblast growth factor receptor 2 p.Ala172Phe mutation in Pfeiffer syndrome--history repeating itself.
Am J Med Genet A
; 161A(5): 1158-63, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23532954
12.
Pure de novo partial trisomy 6p in a girl with craniosynostosis.
Am J Med Genet A
; 161A(2): 343-51, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23307468
13.
Variable phenotype and discrete alterations of immune phenotypes in CTP synthase 1 deficiency: Report of 2 siblings.
J Allergy Clin Immunol
; 138(6): 1722-1725.e6, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27543071
14.
Atypical Crouzon syndrome with a novel Cys62Arg mutation in FGFR2 presenting with sagittal synostosis.
Cleft Palate Craniofac J
; 49(3): 373-7, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22117175
15.
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.
HGG Adv
; 3(1): 100074, 2022 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35047859
16.
Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice.
Hum Mutat
; 32(8): 930-8, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21542058
17.
Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes.
Am J Med Genet A
; 152A(8): 2067-73, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20635358
18.
Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.
Genome Med
; 11(1): 46, 2019 07 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-31345272
19.
2 new cases of pontocerebellar hypoplasia type 10 identified by whole exome sequencing in a Turkish family.
Eur J Med Genet
; 61(5): 273-279, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29307788
20.
A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication.
Eur J Hum Genet
; 26(9): 1288-1293, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29891876