BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

226 related articles for article (PubMed ID: 27094857)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. De novo variants in
    Tanaka AJ; Cho MT; Willaert R; Retterer K; Zarate YA; Bosanko K; Stefans V; Oishi K; Williamson A; Wilson GN; Basinger A; Barbaro-Dieber T; Ortega L; Sorrentino S; Gabriel MK; Anderson IJ; Sacoto MJG; Schnur RE; Chung WK
    Cold Spring Harb Mol Case Stud; 2017 Nov; 3(6):. PubMed ID: 29162653
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features.
    Steinfeld H; Cho MT; Retterer K; Person R; Schaefer GB; Danylchuk N; Malik S; Wechsler SB; Wheeler PG; van Gassen KL; Terhal PA; Verhoeven VJ; van Slegtenhorst MA; Monaghan KG; Henderson LB; Chung WK
    Neurogenetics; 2016 Jul; 17(3):159-64. PubMed ID: 27003583
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features.
    Fukuda T; Hiraide T; Yamoto K; Nakashima M; Kawai T; Yanagi K; Ogata T; Saitsu H
    Eur J Med Genet; 2020 Apr; 63(4):103804. PubMed ID: 31698099
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report.
    Lippa NC; Barua S; Aggarwal V; Pereira E; Bain JM
    BMC Neurol; 2021 Sep; 21(1):358. PubMed ID: 34530748
    [TBL] [Abstract][Full Text] [Related]  

  • 12. MRI findings in Joubert syndrome.
    Choh SA; Choh NA; Bhat SA; Jehangir M
    Indian J Pediatr; 2009 Feb; 76(2):231-5. PubMed ID: 19129991
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
    Harms FL; Girisha KM; Hardigan AA; Kortüm F; Shukla A; Alawi M; Dalal A; Brady L; Tarnopolsky M; Bird LM; Ceulemans S; Bebin M; Bowling KM; Hiatt SM; Lose EJ; Primiano M; Chung WK; Juusola J; Akdemir ZC; Bainbridge M; Charng WL; Drummond-Borg M; Eldomery MK; El-Hattab AW; Saleh MAM; Bézieau S; Cogné B; Isidor B; Küry S; Lupski JR; Myers RM; Cooper GM; Kutsche K
    Am J Hum Genet; 2017 Jan; 100(1):117-127. PubMed ID: 28017373
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [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]  

  • 15. 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]  

  • 16. 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]  

  • 17. Novel
    Kaiwar C; Zimmermann MT; Ferber MJ; Niu Z; Urrutia RA; Klee EW; Babovic-Vuksanovic D
    Cold Spring Harb Mol Case Stud; 2017 Nov; 3(6):. PubMed ID: 28963436
    [TBL] [Abstract][Full Text] [Related]  

  • 18. De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.
    Douglas G; Cho MT; Telegrafi A; Winter S; Carmichael J; Zackai EH; Deardorff MA; Harr M; Williams L; Psychogios A; Erwin AL; Grebe T; Retterer K; Juusola J
    Am J Med Genet A; 2018 Sep; 176(9):1845-1851. PubMed ID: 30055086
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Variants in DOCK3 cause developmental delay and hypotonia.
    Wiltrout K; Ferrer A; van de Laar I; Namekata K; Harada T; Klee EW; Zimmerman MT; Cousin MA; Kempainen JL; Babovic-Vuksanovic D; van Slegtenhorst MA; Aarts-Tesselaar CD; Schnur RE; Andrews M; Shinawi M
    Eur J Hum Genet; 2019 Aug; 27(8):1225-1234. PubMed ID: 30976111
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.