Detalles de la búsqueda
1.
Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia.
Genet Med
; 26(7): 101143, 2024 Apr 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-38641995
2.
Investigating the effects of a single ASPM variant (c.8508_8509) on brain architecture among siblings in a consanguineous Pakistani family.
Mol Biol Rep
; 51(1): 104, 2024 Jan 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-38224417
3.
Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models.
J Hum Genet
; 68(7): 469-475, 2023 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-36864288
4.
Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling.
Genet Med
; 24(8): 1708-1721, 2022 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-35583550
5.
A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish family.
Am J Med Genet A
; 188(4): 1251-1258, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-34913263
6.
A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome.
Clin Genet
; 100(4): 486-488, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34270086
7.
Unilateral L4-dorsal root ganglion stimulation evokes pain relief in chronic neuropathic postsurgical knee pain and changes of inflammatory markers: part II whole transcriptome profiling.
J Transl Med
; 17(1): 205, 2019 06 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-31217010
8.
Mutations of KIF14 cause primary microcephaly by impairing cytokinesis.
Ann Neurol
; 82(4): 562-577, 2017 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-28892560
9.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-25439729
10.
CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly.
Mol Genet Genomics
; 292(2): 365-383, 2017 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-28004182
11.
A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family.
Hum Genet
; 135(2): 157-70, 2016 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-26621532
12.
A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function.
Am J Hum Genet
; 90(5): 871-8, 2012 May 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-22521416
13.
Congenital Microcephaly: A Debate on Diagnostic Challenges and Etiological Paradigm of the Shift from Isolated/Non-Syndromic to Syndromic Microcephaly.
Cells
; 12(4)2023 02 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-36831309
14.
RNA-Seq analysis of mung bean (Vigna radiata L.) roots shows differential gene expression and predicts regulatory pathways responding to taxonomically different rhizobia.
Microbiol Res
; 275: 127451, 2023 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-37478540
15.
Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability.
Genes (Basel)
; 14(1)2022 12 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-36672789
16.
De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway.
HGG Adv
; 3(3): 100111, 2022 Jul 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-35571680
17.
A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family.
Genes (Basel)
; 12(10)2021 09 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-34680889
18.
Biallelic SYNE2 Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and Autism.
Genes (Basel)
; 12(9)2021 08 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-34573277
19.
Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ.
Genes (Basel)
; 12(5)2021 05 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-34068194
20.
An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.
Mol Genet Genomic Med
; 8(9): e1408, 2020 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32677750