Detalhe da pesquisa
1.
Mutations in human DNA methyltransferase DNMT1 induce specific genome-wide epigenomic and transcriptomic changes in neurodevelopment.
Hum Mol Genet
; 32(21): 3105-3120, 2023 10 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37584462
2.
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.
Am J Hum Genet
; 108(4): 739-748, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33711248
3.
Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family.
Clin Auton Res
; 33(4): 421-432, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37460866
4.
Heredity of pregnancy-related pelvic girdle pain in Sweden.
Acta Obstet Gynecol Scand
; 102(10): 1250-1258, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37470484
5.
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.
Clin Genet
; 99(2): 318-324, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33169370
6.
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
Brain
; 143(10): 2929-2944, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32979048
7.
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.
Am J Hum Genet
; 109(3): 542-546, 2022 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35245475
8.
Aniridia with PAX6 mutations and narcolepsy.
J Sleep Res
; 29(6): e12982, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31943460
9.
Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal functionality.
Exp Cell Res
; 383(1): 111469, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31302032
10.
Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage.
PLoS Genet
; 13(7): e1006897, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28686597
11.
Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42.
Hum Mutat
; 40(7): 899-903, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30927481
12.
Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment.
Neurobiol Dis
; 132: 104583, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31445158
13.
Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing.
Hum Mutat
; 39(9): 1262-1272, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29932473
14.
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
Hum Mol Genet
; 25(3): 571-83, 2016 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26647307
15.
Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features.
BMC Med Genet
; 18(1): 144, 2017 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29207948
16.
Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency.
BMC Med Genet
; 17(1): 88, 2016 Nov 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-27881089
17.
LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course.
Ann Neurol
; 78(3): 412-25, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26053668
18.
MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).
J Med Genet
; 52(3): 195-202, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25612909
19.
Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans.
J Med Genet
; 52(9): 599-606, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26142438
20.
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).
Nat Genet
; 39(1): 86-92, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17187068