Detalhe da pesquisa
1.
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.
Cell
; 2024 May 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38821050
2.
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.
Cell
; 157(3): 651-63, 2014 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-24766810
3.
AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder.
Cell
; 154(3): 505-17, 2013 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23911318
4.
De novo variants in DENND5B cause a neurodevelopmental disorder.
Am J Hum Genet
; 111(3): 529-543, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38387458
5.
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.
Am J Hum Genet
; 109(5): 909-927, 2022 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35390279
6.
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
Cell
; 142(2): 203-17, 2010 Jul 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-20637498
7.
Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.
Hum Mol Genet
; 31(18): 3083-3094, 2022 09 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35512351
8.
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.
Am J Hum Genet
; 106(3): 338-355, 2020 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32109419
9.
Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders.
Blood
; 137(26): 3660-3669, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33763700
10.
Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series.
Prenat Diagn
; 42(1): 118-135, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34894355
11.
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.
Brain
; 142(10): 2948-2964, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31501903
12.
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
Am J Hum Genet
; 98(3): 541-552, 2016 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26942287
13.
De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.
Brain
; 141(7): 1998-2013, 2018 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29878067
14.
Genotype-phenotype correlations in individuals with pathogenic RERE variants.
Hum Mutat
; 39(5): 666-675, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29330883
15.
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.
Brain
; 140(10): 2597-2609, 2017 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28969387
16.
Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.
Am J Hum Genet
; 92(3): 468-74, 2013 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23472759
17.
Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.
Am J Hum Genet
; 90(4): 685-8, 2012 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-22444671
18.
Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.
Am J Hum Genet
; 89(1): 15-27, 2011 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21763480
19.
Supernumerary chromosome 6 marker associated with paternal uniparental isodisomy of chromosome 6 in a patient with a syndromic disorder of insulin secretion.
Eur J Med Genet
; 66(10): 104848, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37739061
20.
A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia.
BMC Med Genomics
; 16(1): 143, 2023 06 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37344844