Detalhe da pesquisa
1.
Obesity-Associated GNAS Mutations and the Melanocortin Pathway.
N Engl J Med
; 385(17): 1581-1592, 2021 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34614324
2.
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
3.
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.
Genet Med
; 23(12): 2360-2368, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34429528
4.
A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis.
Hum Genet
; 139(8): 1077-1090, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32266521
5.
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
Genet Med
; 22(9): 1498-1506, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32499606
6.
Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
Genet Med
; 22(9): 1567, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32636483
7.
Major skull manifestations of skeletal dysplasias - pictorial essay.
Pediatr Radiol
; 50(12): 1658-1668, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33135136
8.
Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy.
Am J Hum Genet
; 99(6): 1325-1337, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27912044
9.
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.
Am J Hum Genet
; 99(2): 392-406, 2016 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27426733
10.
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.
Am J Hum Genet
; 99(1): 125-38, 2016 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27374770
11.
Biallelic human ITCH variants causing a multisystem disease with dysmorphic features: A second report.
Am J Med Genet A
; 179(7): 1346-1350, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31091003
12.
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
13.
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
Am J Med Genet A
; 176(4): 925-935, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29436146
14.
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
15.
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.
Am J Med Genet A
; 173(7): 1739-1746, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28498505
16.
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.
Am J Hum Genet
; 93(5): 932-44, 2013 Nov 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24183451
17.
Two further patients with the 1q24 deletion syndrome expand the phenotype: A possible role for the miR199-214 cluster in the skeletal features of the condition.
Am J Med Genet A
; 167A(12): 3153-60, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26333682
18.
Frontometaphyseal dysplasia and keloid formation without FLNA mutations.
Am J Med Genet A
; 167(6): 1215-22, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25899317
19.
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.
Am J Med Genet A
; 167A(3): 461-75, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25604898
20.
Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations.
Am J Med Genet A
; 161A(9): 2339-46, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23913798