Detalhe da pesquisa
1.
Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4.
Hum Genet
; 141(11): 1785-1794, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35536377
2.
Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis.
Am J Hum Genet
; 100(2): 297-315, 2017 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132687
3.
Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss.
Clin Genet
; 98(1): 32-42, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32279305
4.
SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.
Ann Neurol
; 86(3): 368-383, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31298765
5.
eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.
Mol Cell
; 48(4): 641-6, 2012 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-23063529
6.
A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.
Hum Mol Genet
; 26(20): 4055-4066, 2017 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29016863
7.
Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice.
Genome Res
; 26(2): 183-91, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26755636
8.
A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.
Genet Med
; 20(6): 614-621, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29309402
9.
A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family.
J Hum Genet
; 68(2): 107-109, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36217027
10.
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.
Hum Mol Genet
; 24(9): 2594-603, 2015 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25616960
11.
Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.
Am J Hum Genet
; 95(5): 622-32, 2014 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25439729
12.
AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance.
Audiol Neurootol
; 22(1): 30-40, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28601886
13.
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
Nat Genet
; 40(9): 1113-8, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18711368
14.
PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.
Hum Mutat
; 37(2): 170-4, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26593283
15.
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
Hum Mutat
; 37(9): 847-64, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27302555
16.
Linkage and Association Analysis Identifies TRAF1 Influencing Common Carotid Intima-Media Thickness.
Stroke
; 47(12): 2904-2909, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27827325
17.
A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.
Hum Mol Genet
; 23(22): 5940-9, 2014 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24951542
18.
A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family.
Hum Genet
; 135(2): 157-70, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26621532
19.
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.
Am J Hum Genet
; 93(4): 727-34, 2013 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24035193
20.
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.
Am J Hum Genet
; 93(1): 181-90, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23830518