Detalhe da pesquisa
1.
Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice.
PLoS Genet
; 18(3): e1010114, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35298461
2.
Overlapping neurological phenotypes in two extended consanguineous families with novel variants in the CNTNAP1 and ADGRG1 genes.
J Gene Med
; 25(10): e3513, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37178061
3.
A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigrees.
Am J Med Genet A
; 188(2): 498-508, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34697879
4.
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.
PLoS Genet
; 14(8): e1007504, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30157172
5.
Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.
PLoS Genet
; 13(1): e1006470, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28081210
6.
BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan.
Ann Hum Genet
; 83(6): 477-482, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31173343
7.
Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families.
BMC Med Genet
; 20(1): 145, 2019 08 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-31443639
8.
Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families.
BMC Med Genet
; 20(1): 199, 2019 12 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-31852446
9.
Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature.
BMC Med Genet
; 19(1): 160, 2018 09 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30200890
10.
A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.
Brain
; 140(3): 547-554, 2017 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28052917
11.
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.
Brain
; 140(4): 940-952, 2017 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28334956
12.
Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.
Hum Mutat
; 37(11): 1157-1161, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27492651
13.
Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel.
BMC Med Genet
; 17(1): 82, 2016 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-27852232
14.
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.
Brain
; 138(Pt 8): 2173-90, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26070982
15.
Delineating the expanding phenotype associated with SCAPER gene mutation.
Am J Med Genet A
; 179(8): 1665-1671, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31192531
16.
Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.
Brain
; 136(Pt 12): 3618-24, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24103911
17.
Mutation of HERC2 causes developmental delay with Angelman-like features.
J Med Genet
; 50(2): 65-73, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23243086
18.
Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B).
NPJ Genom Med
; 7(1): 2, 2022 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35027574
19.
MNS1 variant associated with situs inversus and male infertility.
Eur J Hum Genet
; 28(1): 50-55, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31534215
20.
An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia.
Eur J Hum Genet
; 27(4): 657-662, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30622327