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PUBMED FOR HANDHELDS

Journal Abstract Search

168 related items for PubMed ID: 27822859

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  • 3. Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges.
    Efthymiou S, Lemmers RJLF, Vishnu VY, Dominik N, Perrone B, Facchini S, Vegezzi E, Ravaglia S, Wilson L, van der Vliet PJ, Mishra R, Reyaz A, Ahmad T, Bhatia R, Polke JM, Srivastava MP, Cortese A, Houlden H, van der Maarel SM, Hanna MG, Bugiardini E.
    Biomolecules; 2023 Oct 24; 13(11):. PubMed ID: 38002249
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  • 4. Hybridization analysis of D4Z4 repeat arrays linked to FSHD.
    Ehrlich M, Jackson K, Tsumagari K, Camaño P, Lemmers RJ.
    Chromosoma; 2007 Apr 24; 116(2):107-16. PubMed ID: 17131163
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  • 5. Genetic confirmation of facioscapulohumeral muscular dystrophy in a case with complex D4Z4 rearrangments.
    Buzhov BT, Lemmers RJ, Tournev I, Dikova C, Kremensky I, Petrova J, Frants RR, van der Maarel SM.
    Hum Genet; 2005 Mar 24; 116(4):262-6. PubMed ID: 15645183
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  • 6. Genetic and epigenetic characteristics of FSHD-associated 4q and 10q D4Z4 that are distinct from non-4q/10q D4Z4 homologs.
    Zeng W, Chen YY, Newkirk DA, Wu B, Balog J, Kong X, Ball AR, Zanotti S, Tawil R, Hashimoto N, Mortazavi A, van der Maarel SM, Yokomori K.
    Hum Mutat; 2014 Aug 24; 35(8):998-1010. PubMed ID: 24838473
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  • 7. Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy.
    Lemmers RJLF, Butterfield R, van der Vliet PJ, de Bleecker JL, van der Pol L, Dunn DM, Erasmus CE, D'Hooghe M, Verhoeven K, Balog J, Bigot A, van Engelen B, Statland J, Bugiardini E, van der Stoep N, Evangelista T, Marini-Bettolo C, van den Bergh P, Tawil R, Voermans NC, Vissing J, Weiss RB, van der Maarel SM.
    Brain; 2024 Feb 01; 147(2):414-426. PubMed ID: 37703328
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  • 8. Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.
    Lemmers RJ, Goeman JJ, van der Vliet PJ, van Nieuwenhuizen MP, Balog J, Vos-Versteeg M, Camano P, Ramos Arroyo MA, Jerico I, Rogers MT, Miller DG, Upadhyaya M, Verschuuren JJ, Lopez de Munain Arregui A, van Engelen BG, Padberg GW, Sacconi S, Tawil R, Tapscott SJ, Bakker B, van der Maarel SM.
    Hum Mol Genet; 2015 Feb 01; 24(3):659-69. PubMed ID: 25256356
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  • 9. Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2.
    Lemmers RJLF, van der Vliet PJ, Vreijling JP, Henderson D, van der Stoep N, Voermans N, van Engelen B, Baas F, Sacconi S, Tawil R, van der Maarel SM.
    Hum Mol Genet; 2018 Oct 15; 27(20):3488-3497. PubMed ID: 30281091
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  • 10. Clinical Application of Optical Genome Mapping for Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy.
    Shim Y, Seo J, Lee ST, Choi JR, Choi YC, Shin S, Park HJ.
    Ann Lab Med; 2024 Sep 01; 44(5):437-445. PubMed ID: 38724225
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  • 11. Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing.
    Jones TI, Yan C, Sapp PC, McKenna-Yasek D, Kang PB, Quinn C, Salameh JS, King OD, Jones PL.
    Clin Epigenetics; 2014 Sep 01; 6(1):23. PubMed ID: 25400706
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  • 12. Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing.
    Hiramuki Y, Kure Y, Saito Y, Ogawa M, Ishikawa K, Mori-Yoshimura M, Oya Y, Takahashi Y, Kim DS, Arai N, Mori C, Matsumura T, Hamano T, Nakamura K, Ikezoe K, Hayashi S, Goto Y, Noguchi S, Nishino I.
    J Transl Med; 2022 Nov 08; 20(1):517. PubMed ID: 36348371
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  • 13. D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection.
    Lemmers RJ, Osborn M, Haaf T, Rogers M, Frants RR, Padberg GW, Cooper DN, van der Maarel SM, Upadhyaya M.
    Neurology; 2003 Jul 22; 61(2):178-83. PubMed ID: 12874395
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  • 14. A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD).
    van der Maarel SM, Deidda G, Lemmers RJ, Bakker E, van der Wielen MJ, Sandkuijl L, Hewitt JE, Padberg GW, Frants RR.
    J Med Genet; 1999 Nov 22; 36(11):823-8. PubMed ID: 10544225
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  • 15. Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.
    de Greef JC, Lemmers RJ, van Engelen BG, Sacconi S, Venance SL, Frants RR, Tawil R, van der Maarel SM.
    Hum Mutat; 2009 Oct 22; 30(10):1449-59. PubMed ID: 19728363
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  • 16. Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1.
    Larsen M, Rost S, El Hajj N, Ferbert A, Deschauer M, Walter MC, Schoser B, Tacik P, Kress W, Müller CR.
    Eur J Hum Genet; 2015 Jun 22; 23(6):808-16. PubMed ID: 25370034
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  • 17. Exchange of subtelomeric regions between chromosomes 4q and 10q reverts the FSHD genotype and phenotype.
    Ma Y, Schwager Karpukhina A, Dib C, Gautier C, Hermine O, Allemand E, Vassetzky YS.
    Sci Adv; 2024 May 03; 10(18):eadl1922. PubMed ID: 38691604
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  • 18. Genotype and phenotype analysis of 43 Iranian facioscapulohumeral muscular dystrophy patients; Evidence for anticipation.
    Alavi A, Esmaeili S, Nafissi S, Kahrizi K, Najmabadi H.
    Neuromuscul Disord; 2018 Apr 03; 28(4):303-314. PubMed ID: 29402602
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  • 19. [Facioscapulohumeral muscular dystrophy type 2].
    Sacconi S, Desnuelle C.
    Rev Neurol (Paris); 2013 Apr 03; 169(8-9):564-72. PubMed ID: 23969240
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