BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

116 related articles for article (PubMed ID: 34504925)

  • 21. An inherited LMNA gene mutation in atypical Progeria syndrome.
    Doubaj Y; De Sandre-Giovannoli A; Vera EV; Navarro CL; Elalaoui SC; Tajir M; Lévy N; Sefiani A
    Am J Med Genet A; 2012 Nov; 158A(11):2881-7. PubMed ID: 22991222
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Mandibuloacral dysplasia with type B lipodystrophy in a patient from Chile.
    Alarcón PI; Mujica I; Sanz P; García CJ; Gilgenkrantz S
    Am J Med Genet A; 2019 Jun; 179(6):893-895. PubMed ID: 30919593
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Skeletal phenotype of mandibuloacral dysplasia associated with mutations in ZMPSTE24.
    Cunningham VJ; D'Apice MR; Licata N; Novelli G; Cundy T
    Bone; 2010 Sep; 47(3):591-7. PubMed ID: 20550970
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Lamins and bone disorders: current understanding and perspectives.
    Gargiuli C; Schena E; Mattioli E; Columbaro M; D'Apice MR; Novelli G; Greggi T; Lattanzi G
    Oncotarget; 2018 Apr; 9(32):22817-22831. PubMed ID: 29854317
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers.
    Al-Haggar M; Shams A; Madej-Pilarczyk A; Barakat T; Puzianowska-Kuznicka M
    J Clin Pathol; 2013 Nov; 66(11):1000-4. PubMed ID: 23775434
    [No Abstract]   [Full Text] [Related]  

  • 26. Hutchinson-Gilford Syndrome (Progeria) with Heterozygous Mutation in the
    Muralidharan S; Nair SP; Hariharan SV
    Indian Dermatol Online J; 2022; 13(5):640-642. PubMed ID: 36304657
    [No Abstract]   [Full Text] [Related]  

  • 27. Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy.
    Simha V; Agarwal AK; Oral EA; Fryns JP; Garg A
    J Clin Endocrinol Metab; 2003 Jun; 88(6):2821-4. PubMed ID: 12788894
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.
    Agarwal AK; Fryns JP; Auchus RJ; Garg A
    Hum Mol Genet; 2003 Aug; 12(16):1995-2001. PubMed ID: 12913070
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Transcatheter Aortic Valve Replacement in a Young Patient With Mandibuloacral Dysplasia.
    Stefanescu Schmidt AC; Carreras ET; Gerhard-Herman MD; Kaneko T; Valente AM; Shah PB
    JACC Case Rep; 2021 Jun; 3(6):897-899. PubMed ID: 34317650
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Non-syndromic cardiac progeria in a patient with the rare pathogenic p.Asp300Asn variant in the LMNA gene.
    Marian AJ
    BMC Med Genet; 2017 Oct; 18(1):116. PubMed ID: 29047356
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Novel
    Soria-Valles C; Carrero D; Gabau E; Velasco G; Quesada V; Bárcena C; Moens M; Fieggen K; Möhrcken S; Owens M; Puente DA; Asensio Ó; Loeys B; Pérez A; Benoit V; Wuyts W; Lévy N; Hennekam RC; De Sandre-Giovannoli A; López-Otín C
    J Med Genet; 2016 Nov; 53(11):776-785. PubMed ID: 27334370
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation.
    Madej-Pilarczyk A; Rosińska-Borkowska D; Rekawek J; Marchel M; Szaluś E; Jabłońska S; Hausmanowa-Petrusewicz I
    Am J Med Genet A; 2009 Nov; 149A(11):2387-92. PubMed ID: 19842191
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes.
    Kosho T; Takahashi J; Momose T; Nakamura A; Sakurai A; Wada T; Yoshida K; Wakui K; Suzuki T; Kasuga K; Nishimura G; Kato H; Fukushima Y
    Am J Med Genet A; 2007 Nov; 143A(21):2598-603. PubMed ID: 17935239
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation.
    Hussain I; Patni N; Ueda M; Sorkina E; Valerio CM; Cochran E; Brown RJ; Peeden J; Tikhonovich Y; Tiulpakov A; Stender SRS; Klouda E; Tayeh MK; Innis JW; Meyer A; Lal P; Godoy-Matos AF; Teles MG; Adams-Huet B; Rader DJ; Hegele RA; Oral EA; Garg A
    J Clin Endocrinol Metab; 2018 Mar; 103(3):1005-1014. PubMed ID: 29267953
    [TBL] [Abstract][Full Text] [Related]  

  • 35. A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.
    Villa F; Maciąg A; Spinelli CC; Ferrario A; Carrizzo A; Parisi A; Torella A; Montenero C; Condorelli G; Vecchione C; Nigro V; Montenero AS; Puca AA
    Immun Ageing; 2014; 11(1):19. PubMed ID: 25469153
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Cell autonomous and systemic factors in progeria development.
    Osorio FG; Ugalde AP; Mariño G; Puente XS; Freije JM; López-Otín C
    Biochem Soc Trans; 2011 Dec; 39(6):1710-4. PubMed ID: 22103512
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Antisense-Based Progerin Downregulation in HGPS-Like Patients' Cells.
    Harhouri K; Navarro C; Baquerre C; Da Silva N; Bartoli C; Casey F; Mawuse GK; Doubaj Y; Lévy N; De Sandre-Giovannoli A
    Cells; 2016 Jul; 5(3):. PubMed ID: 27409638
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency.
    Agarwal AK; Zhou XJ; Hall RK; Nicholls K; Bankier A; Van Esch H; Fryns JP; Garg A
    J Investig Med; 2006 May; 54(4):208-13. PubMed ID: 17152860
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Novel clinical features and pleiotropic effect in three unrelated patients with LMNA variant.
    Turkyilmaz A; Geçkinli BB; Alavanda C; Ates EA; Arman A
    Clin Dysmorphol; 2021 Jan; 30(1):10-16. PubMed ID: 33038109
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Mutations Involved in Premature-Ageing Syndromes.
    Coppedè F
    Appl Clin Genet; 2021; 14():279-295. PubMed ID: 34103969
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.