172 related articles for article (PubMed ID: 36652953)
21. Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia.
Accogli A; Russell L; Sébire G; Rivière JB; St-Onge J; Addour-Boudrahem N; Laporte AD; Rouleau GA; Saint-Martin C; Srour M
Neurogenetics; 2019 May; 20(2):103-108. PubMed ID: 30924036
[TBL] [Abstract][Full Text] [Related]
22. PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.
Magyar CL; Murdock DR; Burrage LC; Dai H; Lalani SR; Lewis RA; Lin Y; Astudillo MF; Rosenfeld JA; Tran AA; Gibson JB; ; Bacino CA; Lee BH; Chao HT
Am J Med Genet A; 2022 Jun; 188(6):1868-1874. PubMed ID: 35194938
[TBL] [Abstract][Full Text] [Related]
23. Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.
Marafi D; Mitani T; Isikay S; Hertecant J; Almannai M; Manickam K; Abou Jamra R; El-Hattab AW; Rajah J; Fatih JM; Du H; Karaca E; Bayram Y; Punetha J; Rosenfeld JA; Jhangiani SN; Boerwinkle E; Akdemir ZC; Erdin S; Hunter JV; Gibbs RA; Pehlivan D; Posey JE; Lupski JR
Ann Clin Transl Neurol; 2020 May; 7(5):610-627. PubMed ID: 32286009
[TBL] [Abstract][Full Text] [Related]
24. Donor Splice Site Variant in
Petraitytė G; Mikštienė V; Siavrienė E; Cimbalistienė L; Maldžienė Ž; Rančelis T; Vaitėnienė EM; Ambrozaitytė L; Dapkūnas J; Dzindzalieta R; Pranckevičienė E; Kučinskas V; Utkus A; Preikšaitienė E
Medicina (Kaunas); 2022 Feb; 58(3):. PubMed ID: 35334527
[TBL] [Abstract][Full Text] [Related]
25. Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in
Pasquetti D; Marangi G; Orteschi D; Carapelle M; L'Erario FF; Venditti R; Maietta S; Battaglia DI; Contaldo I; Veredice C; Zollino M
Genes (Basel); 2023 Jan; 14(2):. PubMed ID: 36833170
[TBL] [Abstract][Full Text] [Related]
26. A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination.
Miyamoto S; Nakashima M; Ohashi T; Hiraide T; Kurosawa K; Yamamoto T; Takanashi J; Osaka H; Inoue K; Miyazaki T; Wada Y; Okamoto N; Saitsu H
Mol Genet Genomic Med; 2019 Aug; 7(8):e814. PubMed ID: 31231989
[TBL] [Abstract][Full Text] [Related]
27. Next-Generation Sequencing Reveals Novel Homozygous Missense Variant c.934T > C in
Naseer MI; Abdulkareem AA; Pushparaj PN; Saharti S; Muthaffar OY
Front Pediatr; 2022; 10():862722. PubMed ID: 35685919
[TBL] [Abstract][Full Text] [Related]
28. Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy.
Dorboz I; Aiello C; Simons C; Stone RT; Niceta M; Elmaleh M; Abuawad M; Doummar D; Bruselles A; Wolf NI; Travaglini L; Boespflug-Tanguy O; Tartaglia M; Vanderver A; Rodriguez D; Bertini E
Brain; 2017 Oct; 140(10):2550-2556. PubMed ID: 28969374
[TBL] [Abstract][Full Text] [Related]
29. Biallelic Variants in the
Teunissen MWA; Kamsteeg EJ; Sallevelt SCEH; Pennings M; Bauer NJC; Vermeulen RJ; Nicolai J
Neurol Genet; 2021 Apr; 7(2):e564. PubMed ID: 33709034
[TBL] [Abstract][Full Text] [Related]
30. Novel Homozygous Mutation of the AIMP1 Gene: A Milder Neuroimaging Phenotype With Preservation of the Deep White Matter.
BoAli A; Tlili-Graiess K; AlHashem A; AlShahwan S; Zuccoli G; Tabarki B
Pediatr Neurol; 2019 Feb; 91():57-61. PubMed ID: 30477741
[TBL] [Abstract][Full Text] [Related]
31. A
Siori D; Vlachakis D; Makrythanasis P; Traeger-Synodinos J; Veltra D; Kampouraki A; Chrousos GP
Genes (Basel); 2024 Apr; 15(5):. PubMed ID: 38790154
[TBL] [Abstract][Full Text] [Related]
32. De novo splice site variant of ARID1B associated with pathogenesis of Coffin-Siris syndrome.
Pranckėnienė L; Siavrienė E; Gueneau L; Preikšaitienė E; Mikštienė V; Reymond A; Kučinskas V
Mol Genet Genomic Med; 2019 Dec; 7(12):e1006. PubMed ID: 31628733
[TBL] [Abstract][Full Text] [Related]
33. An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome.
Boschann F; Fischer-Zirnsak B; Wienker TF; Holtgrewe M; Seelow D; Eichhorn B; Döhnert S; Fahsold R; Horn D; Graul-Neumann LM
Eur J Med Genet; 2020 Sep; 63(9):103973. PubMed ID: 32505691
[TBL] [Abstract][Full Text] [Related]
34. A Recurrent
Macintosh J; Thiffault I; Pastinen T; Sztriha L; Bernard G
Child Neurol Open; 2023; 10():2329048X231176673. PubMed ID: 37284702
[No Abstract] [Full Text] [Related]
35. Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report.
Khalesi R; Razmara E; Asgaritarghi G; Tavasoli AR; Riazalhosseini Y; Auld D; Garshasbi M
BMC Neurol; 2021 Apr; 21(1):180. PubMed ID: 33910511
[TBL] [Abstract][Full Text] [Related]
36. A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families.
Hartley JN; Simard LR; Ly V; Del Bigio MR; Frosk P
Am J Med Genet A; 2019 Feb; 179(2):206-218. PubMed ID: 30556349
[TBL] [Abstract][Full Text] [Related]
37. Exon 10 skipping caused by intron 10 splice donor site mutation in cholesteryl ester transfer protein gene results in abnormal downstream splice site selection.
Sakai N; Santamarina-Fojo S; Yamashita S; Matsuzawa Y; Brewer HB
J Lipid Res; 1996 Oct; 37(10):2065-73. PubMed ID: 8906584
[TBL] [Abstract][Full Text] [Related]
38. Novel biallelic variant in BBS9 causative of Bardet-Biedl syndrome: expanding the spectrum of disease-causing genetic alterations.
Suárez-González J; Seidel V; Andrés-Zayas C; Izquierdo E; Buño I
BMC Med Genomics; 2021 Mar; 14(1):91. PubMed ID: 33771153
[TBL] [Abstract][Full Text] [Related]
39. Whole-exome sequencing identifies a donor splice-site variant in SMPX that causes rare X-linked congenital deafness.
Lv Y; Gu J; Qiu H; Li H; Zhang Z; Yin S; Mao Y; Kong L; Liang B; Jiang H; Liu C
Mol Genet Genomic Med; 2019 Nov; 7(11):e967. PubMed ID: 31478598
[TBL] [Abstract][Full Text] [Related]
40. A novel de novo TMEM63A variant in a patient with severe hypomyelination and global developmental delay.
Fukumura S; Hiraide T; Yamamoto A; Tsuchida K; Aoto K; Nakashima M; Saitsu H
Brain Dev; 2022 Feb; 44(2):178-183. PubMed ID: 34598833
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
