Detalhe da pesquisa
1.
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.
Am J Hum Genet
; 102(6): 1115-1125, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29805041
2.
Germline mutations and somatic inactivation of TRIM28 in Wilms tumour.
PLoS Genet
; 14(6): e1007399, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29912901
3.
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.
Am J Hum Genet
; 101(1): 139-148, 2017 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28686853
4.
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
5.
Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies.
Hum Mutat
; 39(1): 103-113, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29024177
6.
Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.
Am J Hum Genet
; 96(4): 623-30, 2015 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25817014
7.
Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia.
Am J Hum Genet
; 97(6): 837-47, 2015 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26637977
8.
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.
Am J Hum Genet
; 105(3): 669, 2019 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31491409
9.
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
10.
Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome.
Genes (Basel)
; 12(4)2021 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33916386
11.
An Activating Variant in CTNNB1 is Associated with a Sclerosing Bone Dysplasia and Adrenocortical Neoplasia.
J Clin Endocrinol Metab
; 105(3)2020 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31970420
12.
Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype.
Eur J Hum Genet
; 28(4): 445-452, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31792352
13.
Exclusion of known corneal dystrophy genes in an autosomal dominant pedigree of a unique anterior membrane corneal dystrophy.
Mol Vis
; 15: 1700-8, 2009 Aug 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-19710953
14.
Missense Pathogenic variants in KIF4A Affect Dental Morphogenesis Resulting in X-linked Taurodontism, Microdontia and Dens-Invaginatus.
Front Genet
; 10: 800, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31616463
15.
Mob2 Insufficiency Disrupts Neuronal Migration in the Developing Cortex.
Front Cell Neurosci
; 12: 57, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29593499
16.
A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration.
Cell Rep
; 25(10): 2729-2741.e6, 2018 12 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30517861
17.
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.
Nat Commun
; 8: 16077, 2017 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28681861