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 *

178 related articles for article (PubMed ID: 36897110)

  • 41. Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy.
    Muntoni F; Lichtarowicz-Krynska EJ; Sewry CA; Manilal S; Recan D; Llense S; Taylor J; Morris GE; Dubowitz V
    Neuromuscul Disord; 1998 Apr; 8(2):72-6. PubMed ID: 9608559
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Investigating the pathology of Emery-Dreifuss muscular dystrophy.
    Brown SC; Piercy RJ; Muntoni F; Sewry CA
    Biochem Soc Trans; 2008 Dec; 36(Pt 6):1335-8. PubMed ID: 19021551
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
    Bonne G; Mercuri E; Muchir A; Urtizberea A; Bécane HM; Recan D; Merlini L; Wehnert M; Boor R; Reuner U; Vorgerd M; Wicklein EM; Eymard B; Duboc D; Penisson-Besnier I; Cuisset JM; Ferrer X; Desguerre I; Lacombe D; Bushby K; Pollitt C; Toniolo D; Fardeau M; Schwartz K; Muntoni F
    Ann Neurol; 2000 Aug; 48(2):170-80. PubMed ID: 10939567
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Emery-Dreifuss muscular dystrophy-related myopathy with TMEM43 mutations.
    Mukai T; Mori-Yoshimura M; Nishikawa A; Hokkoku K; Sonoo M; Nishino I; Takahashi Y
    Muscle Nerve; 2019 Feb; 59(2):E5-E7. PubMed ID: 30311943
    [No Abstract]   [Full Text] [Related]  

  • 45. Lamin A/C Assembly Defects in
    Bertrand AT; Brull A; Azibani F; Benarroch L; Chikhaoui K; Stewart CL; Medalia O; Ben Yaou R; Bonne G
    Cells; 2020 Mar; 9(4):. PubMed ID: 32244403
    [No Abstract]   [Full Text] [Related]  

  • 46. A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism.
    Meinke P; Kerr ARW; Czapiewski R; de Las Heras JI; Dixon CR; Harris E; Kölbel H; Muntoni F; Schara U; Straub V; Schoser B; Wehnert M; Schirmer EC
    EBioMedicine; 2020 Jan; 51():102587. PubMed ID: 31862442
    [TBL] [Abstract][Full Text] [Related]  

  • 47. [Clinical, genealogical and molecular genetic study of Emery-Dreifuss muscular dystrophy].
    Rudenskaia GE; Tverskaia SM; Chukhrova AL; Zakliaz'minskaia EV; Kuropatkina IuV; Dadali EL; Perminov VS; Poliakov AV
    Zh Nevrol Psikhiatr Im S S Korsakova; 2006; 106(10):58-65. PubMed ID: 17117676
    [TBL] [Abstract][Full Text] [Related]  

  • 48. A family of Emery-Dreifuss muscular dystrophy with extreme difference in severity.
    Higuchi Y; Hongou M; Ozawa K; Kokawa H; Masaki M
    Pediatr Neurol; 2005 May; 32(5):358-60. PubMed ID: 15866440
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling.
    Chang YH; Kang EY; Liu L; Jenny LA; Khang R; Seo GH; Lee H; Chen KJ; Wu WC; Hsiao MC; Wang NK
    Orphanet J Rare Dis; 2023 May; 18(1):131. PubMed ID: 37259171
    [TBL] [Abstract][Full Text] [Related]  

  • 50. [The first Japanese case of autosomal dominant Emery-Dreifuss muscular dystrophy with a novel mutation in the lamin A/C gene].
    Onishi Y; Higuchi J; Ogawa T; Namekawa A; Hayashi H; Odakura H; Goto K; Hayashi YK
    Rinsho Shinkeigaku; 2002 Feb; 42(2):140-4. PubMed ID: 12424964
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Autosomal dominant Emery-Dreifuss muscular dystrophy: a new family with late diagnosis.
    Colomer J; Iturriaga C; Bonne G; Schwartz K; Manilal S; Morris GE; Puche M; Fernández-Alvarez E
    Neuromuscul Disord; 2002 Jan; 12(1):19-25. PubMed ID: 11731280
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy.
    Granger B; Gueneau L; Drouin-Garraud V; Pedergnana V; Gagnon F; Ben Yaou R; Tezenas du Montcel S; Bonne G
    Hum Genet; 2011 Feb; 129(2):149-59. PubMed ID: 21063730
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Quantitative Assessment of Parental Somatic Mosaicism for Copy-Number Variant (CNV) Deletions.
    Liu Q; Grochowski CM; Bi W; Lupski JR; Stankiewicz P
    Curr Protoc Hum Genet; 2020 Jun; 106(1):e99. PubMed ID: 32176465
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Cardiac effects of the c.1583 C→G LMNA mutation in two families with Emery-Dreifuss muscular dystrophy.
    Zhang L; Shen H; Zhao Z; Bing Q; Hu J
    Mol Med Rep; 2015 Oct; 12(4):5065-71. PubMed ID: 26165385
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Cardioembolic stroke prompting diagnosis of LMNA-associated Emery-Dreifuss muscular dystrophy.
    Redondo-Vergé L; Yaou RB; Fernández-Recio M; Dinca L; Richard P; Bonne G
    Muscle Nerve; 2011 Oct; 44(4):587-9. PubMed ID: 21922471
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants.
    Lee M; Lui ACY; Chan JCK; Doong PHL; Kwong AKY; Mak CCY; Li RHW; Kan ASY; Chung BHY
    Hum Genomics; 2023 Oct; 17(1):91. PubMed ID: 37798624
    [TBL] [Abstract][Full Text] [Related]  

  • 57. LMNA-associated myopathies: the Italian experience in a large cohort of patients.
    Maggi L; D'Amico A; Pini A; Sivo S; Pane M; Ricci G; Vercelli L; D'Ambrosio P; Travaglini L; Sala S; Brenna G; Kapetis D; Scarlato M; Pegoraro E; Ferrari M; Toscano A; Benedetti S; Bernasconi P; Colleoni L; Lattanzi G; Bertini E; Mercuri E; Siciliano G; Rodolico C; Mongini T; Politano L; Previtali SC; Carboni N; Mantegazza R; Morandi L
    Neurology; 2014 Oct; 83(18):1634-44. PubMed ID: 25274841
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings.
    Liu Q; Karolak JA; Grochowski CM; Wilson TA; Rosenfeld JA; Bacino CA; Lalani SR; Patel A; Breman A; Smith JL; Cheung SW; Lupski JR; Bi W; Stankiewicz P
    Genomics; 2020 Sep; 112(5):2937-2941. PubMed ID: 32387503
    [TBL] [Abstract][Full Text] [Related]  

  • 59. [A case of Emery-Dreifuss muscular dystrophy with slight joint contracture].
    Fujii S; Eguchi K; Sato C; Saito Y; Indrawati LA; Shirai S; Nishino I; Yabe I
    Rinsho Shinkeigaku; 2020 Aug; 60(8):554-559. PubMed ID: 32641626
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Dropped head related lamin A/C associated congenital muscular dystrophy case; previously defined as emerydreifuss muscular dystrophy.
    Tekin H; Yılmaz S; Tekgül H; Gökben S; Aktan G
    Turk J Pediatr; 2020; 62(1):130-135. PubMed ID: 32253878
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.