BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

202 related articles for article (PubMed ID: 35121673)

  • 21. FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation.
    Mul K; Lemmers RJLF; Kriek M; van der Vliet PJ; van den Boogaard ML; Badrising UA; Graham JM; Lin AE; Brand H; Moore SA; Johnson K; Evangelista T; Töpf A; Straub V; Kapetanovic García S; Sacconi S; Tawil R; Tapscott SJ; Voermans NC; van Engelen BGM; Horlings CGC; Shaw ND; van der Maarel SM
    Neurology; 2018 Aug; 91(6):e562-e570. PubMed ID: 29980640
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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; 24(3):659-69. PubMed ID: 25256356
    [TBL] [Abstract][Full Text] [Related]  

  • 23. FSHD1 and FSHD2 form a disease continuum.
    Sacconi S; Briand-Suleau A; Gros M; Baudoin C; Lemmers RJLF; Rondeau S; Lagha N; Nigumann P; Cambieri C; Puma A; Chapon F; Stojkovic T; Vial C; Bouhour F; Cao M; Pegoraro E; Petiot P; Behin A; Marc B; Eymard B; Echaniz-Laguna A; Laforet P; Salviati L; Jeanpierre M; Cristofari G; van der Maarel SM
    Neurology; 2019 May; 92(19):e2273-e2285. PubMed ID: 30979860
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Sporadic DUX4 expression in FSHD myocytes is associated with incomplete repression by the PRC2 complex and gain of H3K9 acetylation on the contracted D4Z4 allele.
    Haynes P; Bomsztyk K; Miller DG
    Epigenetics Chromatin; 2018 Aug; 11(1):47. PubMed ID: 30122154
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Genetic and epigenetic contributors to FSHD.
    Daxinger L; Tapscott SJ; van der Maarel SM
    Curr Opin Genet Dev; 2015 Aug; 33():56-61. PubMed ID: 26356006
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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; 20(1):517. PubMed ID: 36348371
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2.
    Mitsuhashi S; Boyden SE; Estrella EA; Jones TI; Rahimov F; Yu TW; Darras BT; Amato AA; Folkerth RD; Jones PL; Kunkel LM; Kang PB
    Neuromuscul Disord; 2013 Dec; 23(12):975-80. PubMed ID: 24128691
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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; 147(2):414-426. PubMed ID: 37703328
    [TBL] [Abstract][Full Text] [Related]  

  • 29. DUX4 double whammy: The transcription factor that causes a rare muscular dystrophy also kills the precursors of the human nose.
    Inoue K; Bostan H; Browne MR; Bevis OF; Bortner CD; Moore SA; Stence AA; Martin NP; Chen SH; Burkholder AB; Li JL; Shaw ND
    Sci Adv; 2023 Feb; 9(7):eabq7744. PubMed ID: 36800423
    [No Abstract]   [Full Text] [Related]  

  • 30. Evaluation of Optical Genome Mapping in Clinical Genetic Testing of Facioscapulohumeral Muscular Dystrophy.
    Kovanda A; Lovrečić L; Rudolf G; Babic Bozovic I; Jaklič H; Leonardis L; Peterlin B
    Genes (Basel); 2023 Nov; 14(12):. PubMed ID: 38136988
    [TBL] [Abstract][Full Text] [Related]  

  • 31. SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes.
    Mason AG; Slieker RC; Balog J; Lemmers RJLF; Wong CJ; Yao Z; Lim JW; Filippova GN; Ne E; Tawil R; Heijmans BT; Tapscott SJ; van der Maarel SM
    Skelet Muscle; 2017 Jun; 7(1):12. PubMed ID: 28587678
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Facioscapulohumeral Muscular Dystrophy.
    DeSimone AM; Pakula A; Lek A; Emerson CP
    Compr Physiol; 2017 Sep; 7(4):1229-1279. PubMed ID: 28915324
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome Mapping.
    Guruju NM; Jump V; Lemmers R; Van Der Maarel S; Liu R; Nallamilli BR; Shenoy S; Chaubey A; Koppikar P; Rose R; Khadilkar S; Hegde M
    Neurol Genet; 2023 Dec; 9(6):e200107. PubMed ID: 38021397
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy.
    Winston J; Duerden L; Mort M; Frayling IM; Rogers MT; Upadhyaya M
    Eur J Hum Genet; 2015 Jan; 23(1):67-71. PubMed ID: 24755953
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy.
    Jones TI; King OD; Himeda CL; Homma S; Chen JC; Beermann ML; Yan C; Emerson CP; Miller JB; Wagner KR; Jones PL
    Clin Epigenetics; 2015; 7(1):37. PubMed ID: 25904990
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome.
    Renard D; Taieb G; Garibaldi M; Maues De Paula A; Bernard R; Lagha N; Cristofari G; Vovan C; Chaix C; Lévy N; Khau Van Kien P; Sacconi S
    Am J Med Genet A; 2018 Aug; 176(8):1760-1763. PubMed ID: 30055030
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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; 6(1):23. PubMed ID: 25400706
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report.
    Gaillard MC; Puppo F; Roche S; Dion C; Campana ES; Mariot V; Chaix C; Vovan C; Mazaleyrat K; Tasmadjian A; Bernard R; Dumonceaux J; Attarian S; Lévy N; Nguyen K; Magdinier F; Bartoli M
    BMC Med Genet; 2016 Sep; 17(1):66. PubMed ID: 27634379
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations.
    Hamanaka K; Goto K; Arai M; Nagao K; Obuse C; Noguchi S; Hayashi YK; Mitsuhashi S; Nishino I
    Neuromuscul Disord; 2016; 26(4-5):300-8. PubMed ID: 27061275
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Facioscapulohumeral muscular dystrophy.
    Tawil R
    Handb Clin Neurol; 2018; 148():541-548. PubMed ID: 29478599
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.