These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

324 related articles for article (PubMed ID: 31852984)

  • 1. Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease.
    Mortreux J; Bacquet J; Boyer A; Alazard E; Bellance R; Giguet-Valard AG; Cerino M; Krahn M; Audic F; Chabrol B; Laugel V; Desvignes JP; Béroud C; Nguyen K; Verschueren A; Lévy N; Attarian S; Delague V; Missirian C; Bonello-Palot N
    J Hum Genet; 2020 Mar; 65(3):313-323. PubMed ID: 31852984
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.
    Pehlivan D; Beck CR; Okamoto Y; Harel T; Akdemir ZH; Jhangiani SN; Withers MA; Goksungur MT; Carvalho CM; Czesnik D; Gonzaga-Jauregui C; Wiszniewski W; Muzny DM; Gibbs RA; Rautenstrauss B; Sereda MW; Lupski JR
    Genet Med; 2016 May; 18(5):443-51. PubMed ID: 26378787
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Copy number variations in a population-based study of Charcot-Marie-Tooth disease.
    Høyer H; Braathen GJ; Eek AK; Nordang GB; Skjelbred CF; Russell MB
    Biomed Res Int; 2015; 2015():960404. PubMed ID: 25648254
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients.
    Volodarsky M; Kerkhof J; Stuart A; Levy M; Brady LI; Tarnopolsky M; Lin H; Ainsworth P; Sadikovic B
    J Med Genet; 2021 Apr; 58(4):284-288. PubMed ID: 32376792
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Application of whole-exome sequencing for detecting copy number variants in CMT1A/HNPP.
    Jo HY; Park MH; Woo HM; Han MH; Kim BY; Choi BO; Chung KW; Koo SK
    Clin Genet; 2016 Aug; 90(2):177-81. PubMed ID: 26662885
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants.
    Yoshimura A; Yuan JH; Hashiguchi A; Hiramatsu Y; Ando M; Higuchi Y; Nakamura T; Okamoto Y; Matsumura K; Hamano T; Sawaura N; Shimatani Y; Kumada S; Okumura Y; Miyahara J; Yamaguchi Y; Kitamura S; Haginoya K; Mitsui J; Ishiura H; Tsuji S; Takashima H
    Clin Genet; 2017 Sep; 92(3):274-280. PubMed ID: 28244113
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.
    Record CJ; Pipis M; Skorupinska M; Blake J; Poh R; Polke JM; Eggleton K; Nanji T; Zuchner S; Cortese A; Houlden H; Rossor AM; Laura M; Reilly MM
    Brain; 2024 Sep; 147(9):3144-3156. PubMed ID: 38481354
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum.
    Taghizadeh S; Vazehan R; Beheshtian M; Sadeghinia F; Fattahi Z; Mohseni M; Arzhangi S; Nafissi S; Kariminejad A; Najmabadi H; Kahrizi K
    Arch Iran Med; 2020 Jul; 23(7):426-433. PubMed ID: 32657593
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutational screening of Greek patients with axonal Charcot-Marie-Tooth disease using targeted next-generation sequencing: Clinical and molecular spectrum delineation.
    Kontogeorgiou Z; Kartanou C; Rentzos M; Kokotis P; Anagnostou E; Zambelis T; Chroni E; Dinopoulos A; Panas M; Koutsis G; Karadima G
    J Peripher Nerv Syst; 2023 Dec; 28(4):642-650. PubMed ID: 37747677
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genetic epidemiology of Charcot-Marie-Tooth disease.
    Braathen GJ
    Acta Neurol Scand Suppl; 2012; (193):iv-22. PubMed ID: 23106488
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.
    Taioli F; Cabrini I; Cavallaro T; Acler M; Fabrizi GM
    Brain; 2011 Feb; 134(Pt 2):608-17. PubMed ID: 21252112
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease.
    Huang J; Wu X; Montenegro G; Price J; Wang G; Vance JM; Shy ME; Züchner S
    J Neurol; 2010 May; 257(5):735-41. PubMed ID: 19949810
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease.
    Cortese A; Wilcox JE; Polke JM; Poh R; Skorupinska M; Rossor AM; Laura M; Tomaselli PJ; Houlden H; Shy ME; Reilly MM
    Neurology; 2020 Jan; 94(1):e51-e61. PubMed ID: 31827005
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study.
    Ando M; Hashiguchi A; Okamoto Y; Yoshimura A; Hiramatsu Y; Yuan J; Higuchi Y; Mitsui J; Ishiura H; Umemura A; Maruyama K; Matsushige T; Morishita S; Nakagawa M; Tsuji S; Takashima H
    J Peripher Nerv Syst; 2017 Sep; 22(3):191-199. PubMed ID: 28660751
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.
    Dohrn MF; Glöckle N; Mulahasanovic L; Heller C; Mohr J; Bauer C; Riesch E; Becker A; Battke F; Hörtnagel K; Hornemann T; Suriyanarayanan S; Blankenburg M; Schulz JB; Claeys KG; Gess B; Katona I; Ferbert A; Vittore D; Grimm A; Wolking S; Schöls L; Lerche H; Korenke GC; Fischer D; Schrank B; Kotzaeridou U; Kurlemann G; Dräger B; Schirmacher A; Young P; Schlotter-Weigel B; Biskup S
    J Neurochem; 2017 Dec; 143(5):507-522. PubMed ID: 28902413
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genotype-phenotype correlation and frequency of distribution in a cohort of Chinese Charcot-Marie-Tooth patients associated with GDAP1 mutations.
    Pakhrin PS; Xie Y; Hu Z; Li X; Liu L; Huang S; Wang B; Yang Z; Zhang J; Liu X; Xia K; Tang B; Zhang R
    J Neurol; 2018 Mar; 265(3):637-646. PubMed ID: 29372391
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot-Marie-Tooth disease.
    Chen CX; Dong HL; Wei Q; Li LX; Yu H; Li JQ; Liu GL; Li HF; Bai G; Ma H; Wu ZY
    Clin Genet; 2019 Nov; 96(5):439-448. PubMed ID: 31372974
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family.
    Boubaker C; Hsairi-Guidara I; Castro C; Ayadi I; Boyer A; Kerkeni E; Courageot J; Abid I; Bernard R; Bonello-Palot N; Kamoun F; Cheikh HB; Lévy N; Triki C; Delague V
    Ann Hum Genet; 2013 Jul; 77(4):336-43. PubMed ID: 23550889
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance.
    Engeholm M; Sekler J; Schöndorf DC; Arora V; Schittenhelm J; Biskup S; Schell C; Gasser T
    BMC Neurol; 2014 Jun; 14():118. PubMed ID: 24894446
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Exome sequencing reveals mutations in MFN2 and GDAP1 in severe Charcot-Marie-Tooth disease.
    Kostera-Pruszczyk A; Kosinska J; Pollak A; Stawinski P; Walczak A; Wasilewska K; Potulska-Chromik A; Szczudlik P; Kaminska A; Ploski R
    J Peripher Nerv Syst; 2014 Sep; 19(3):242-5. PubMed ID: 25403865
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.