Detalhe da pesquisa
1.
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome.
J Med Genet
; 61(5): 490-501, 2024 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38296633
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.
Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis.
J Med Genet
; 59(8): 776-780, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34353863
4.
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Am J Hum Genet
; 102(6): 1195-1203, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29861108
5.
amplimap: a versatile tool to process and analyze targeted NGS data.
Bioinformatics
; 35(24): 5349-5350, 2019 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31350555
6.
A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.
Am J Hum Genet
; 98(6): 1256-1265, 2016 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27236920
7.
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
8.
Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.
Am J Hum Genet
; 97(3): 378-88, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26340333
9.
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
10.
amplimap: a versatile tool to process and analyze targeted NGS data.
Bioinformatics
; 36(8): 2643, 2020 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32101608
11.
Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome.
PLoS Genet
; 9(8): e1003746, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24009529
12.
YPEL1 overexpression in early avian craniofacial mesenchyme causes mandibular dysmorphogenesis by up-regulating apoptosis.
Dev Dyn
; 244(8): 1022-30, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26061551
13.
Identification of three novel hearing loss mouse strains with mutations in the Tmc1 gene.
Am J Pathol
; 180(4): 1560-9, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22330676
14.
An ENU-induced mutation of Cdh23 causes congenital hearing loss, but no vestibular dysfunction, in mice.
Am J Pathol
; 179(2): 903-14, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21689626
15.
A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.
J Exp Med
; 214(9): 2547-2562, 2017 Sep 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28747427
16.
Olfr603, an orphan olfactory receptor, is expressed in multiple specific embryonic tissues.
Gene Expr Patterns
; 19(1-2): 30-5, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26116001
17.
A mouse splice-site mutant and individuals with atypical chromosome 22q11.2 deletions demonstrate the crucial role for crkl in craniofacial and pharyngeal development.
Mol Syndromol
; 5(6): 276-86, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25565927
18.
Eeyore: a novel mouse model of hereditary deafness.
PLoS One
; 8(9): e74243, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24086324
19.
Characterization of a novel ENU-generated myosin VI mutant mouse strain with congenital deafness and vestibular dysfunction.
Hear Res
; 299: 53-62, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23485424
20.
bfb, a novel ENU-induced blebs mutant resulting from a missense mutation in Fras1.
PLoS One
; 8(10): e76342, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24143185