108 related articles for article (PubMed ID: 34608870)
1. Exome sequencing identified a
Jafari Khamirani H; Zoghi S; Saber Sichani A; Dianatpour M; Mohammadi S; Mohammad Bagher Tabei S; Alireza Dastgheib S
J Genet; 2021; 100():. PubMed ID: 34608870
[TBL] [Abstract][Full Text] [Related]
2. A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects.
Beck DB; Cho MT; Millan F; Yates C; Hannibal M; O'Connor B; Shinawi M; Connolly AM; Waggoner D; Halbach S; Angle B; Sanders V; Shen Y; Retterer K; Begtrup A; Bai R; Chung WK
Neurogenetics; 2016 Jul; 17(3):173-8. PubMed ID: 27094857
[TBL] [Abstract][Full Text] [Related]
3. CTBP1 and CTBP2 mutations underpinning neurological disorders: a systematic review.
Acosta-Baena N; Tejada-Moreno JA; Arcos-Burgos M; Villegas-Lanau CA
Neurogenetics; 2022 Oct; 23(4):231-240. PubMed ID: 36331689
[TBL] [Abstract][Full Text] [Related]
4. A pathogenic CTBP1 variant featuring HADDTS with dystrophic myopathology.
Kadhim H; El-Howayek E; Coppens S; Duff J; Topf A; Kaleeta JP; Simoni P; Boitsios G; Remiche G; Straub V; Vilain C; Deconinck N
Neuromuscul Disord; 2023 May; 33(5):410-416. PubMed ID: 37037050
[TBL] [Abstract][Full Text] [Related]
5. A further case of hypotonia, ataxia, developmental delay and tooth enamel defect syndrome due to a recurrent C-terminal binding protein 1 mutation.
Bhatia SK; Arora V; Verma IC
Clin Dysmorphol; 2020 Jul; 29(3):148-151. PubMed ID: 32167997
[No Abstract] [Full Text] [Related]
6. A novel
Zhang Q; Liu Y; Liu X; Zhao Y; Zhang J
Front Genet; 2024; 15():1344682. PubMed ID: 38348454
[TBL] [Abstract][Full Text] [Related]
7. CRISPR/Cas9-mediated generation of hESC lines with homozygote and heterozygote p.R331W mutation in CTBP1 to model HADDTS syndrome.
Akdaş EY; Turan S; Guhathakurta D; Ekici A; Salar S; Lie DC; Winner B; Fejtova A
Stem Cell Res; 2023 Mar; 67():103012. PubMed ID: 36610307
[TBL] [Abstract][Full Text] [Related]
8. Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo
Wong WK; Balasubramaniam S; Wong RSH; Graf N; Thorburn DR; McFarland R; Troedson C
JIMD Rep; 2022 Nov; 63(6):546-554. PubMed ID: 36341169
[TBL] [Abstract][Full Text] [Related]
9. A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity.
Beck DB; Subramanian T; Vijayalingam S; Ezekiel UR; Donkervoort S; Yang ML; Dubbs HA; Ortiz-Gonzalez XR; Lakhani S; Segal D; Au M; Graham JM; Verma S; Waggoner D; Shinawi M; Bönnemann CG; Chung WK; Chinnadurai G
Neurogenetics; 2019 Aug; 20(3):129-143. PubMed ID: 31041561
[TBL] [Abstract][Full Text] [Related]
10. Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay.
Wayhelova M; Oppelt J; Smetana J; Hladilkova E; Filkova H; Makaturova E; Nikolova P; Beharka R; Gaillyova R; Kuglik P
Mol Med Rep; 2019 Jul; 20(1):505-512. PubMed ID: 31180560
[TBL] [Abstract][Full Text] [Related]
11. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F; McKee S; Rosenfeld JA; Suri M; Lewis AM; Nugent KM; Roeder E; Littlejohn RO; Holder S; Zhu W; Alaimo JT; Graham B; Harris JM; Gibson JB; Pastore M; McBride KL; Komara M; Al-Gazali L; Al Shamsi A; Fanning EA; Wierenga KJ; Scott DA; Ben-Neriah Z; Meiner V; Cassuto H; Elpeleg O; Holder JL; Burrage LC; Seaver LH; Van Maldergem L; Mahida S; Soul JS; Marlatt M; Matyakhina L; Vogt J; Gold JA; Park SM; Varghese V; Lampe AK; Kumar A; Lees M; Holder-Espinasse M; McConnell V; Bernhard B; Blair E; Harrison V; ; Muzny DM; Gibbs RA; Elsea SH; Posey JE; Bi W; Lalani S; Xia F; Yang Y; Eng CM; Lupski JR; Liu P
Genome Med; 2019 Feb; 11(1):12. PubMed ID: 30819258
[TBL] [Abstract][Full Text] [Related]
12. A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Yang J; Wang Q; Zhuo Q; Tian H; Li W; Luo F; Zhang J; Bi D; Peng J; Zhou D; Xin H
Mol Genet Genomic Med; 2018 Sep; 6(5):739-748. PubMed ID: 29974678
[TBL] [Abstract][Full Text] [Related]
13. Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1.
Faergeman SL; Bojesen AB; Rasmussen M; Becher N; Andreasen L; Andersen BN; Erbs E; Lildballe DL; Nielsen JEK; Zilmer M; Hammer TB; Andersen MØ; Brasch-Andersen C; Fagerberg CR; Illum NO; Thorup MB; Gregersen PA
Eur J Med Genet; 2021 Sep; 64(9):104280. PubMed ID: 34229113
[TBL] [Abstract][Full Text] [Related]
14. Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients.
Prokudin I; Li D; He S; Guo Y; Goodwin L; Wilson M; Rose L; Tian L; Chen Y; Liang J; Keating B; Xu X; Jamieson RV; Hakonarson H
Clin Exp Ophthalmol; 2015 Mar; 43(2):132-8. PubMed ID: 25060287
[TBL] [Abstract][Full Text] [Related]
15. Vissers-Bodmer syndrome caused by a novel de novo CNOT1 frameshift variant.
Wu T; Chen X; Zhang X
Am J Med Genet A; 2024 Feb; 194(2):363-367. PubMed ID: 37818768
[TBL] [Abstract][Full Text] [Related]
16. Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene.
Slezak R; Smigiel R; Rydzanicz M; Pollak A; Kosinska J; Stawinski P; Malgorzata Sasiadek M; Ploski R
Mol Genet Genomic Med; 2020 Oct; 8(10):e1432. PubMed ID: 32705777
[TBL] [Abstract][Full Text] [Related]
17. [Analysis of clinical features and EBF3 gene variant in a child with hypotonia, ataxia and developmental delay].
Cong Y; Wang D; Wang H; Xu X; Wu K
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Nov; 39(11):1270-1274. PubMed ID: 36317217
[TBL] [Abstract][Full Text] [Related]
18. Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental Delay.
Weyhrauch DL; Ye D; Boczek NJ; Tester DJ; Gavrilova RH; Patterson MC; Wieben ED; Ackerman MJ
Pediatr Neurol; 2016 Feb; 55():46-51. PubMed ID: 26739101
[TBL] [Abstract][Full Text] [Related]
19. Clinical spectrum of individuals with de novo EBF3 variants or deletions.
Nishi E; Uehara T; Yanagi K; Hasegawa Y; Ueda K; Kaname T; Yamamoto T; Kosaki K; Okamoto N
Am J Med Genet A; 2021 Oct; 185(10):2913-2921. PubMed ID: 34050706
[TBL] [Abstract][Full Text] [Related]
20. A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia.
Alharby E; Albalawi AM; Nasir A; Alhijji SA; Mahmood A; Ramzan K; Abdusamad F; Aljohani A; Abdelsalam O; Eldardear A; Basit S
Clin Genet; 2017 Dec; 92(6):579-586. PubMed ID: 28542722
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
