BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

177 related articles for article (PubMed ID: 18348272)

  • 1. Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy.
    Zirn B; Kress W; Grimm T; Berthold LD; Neubauer B; Kuchelmeister K; Müller U; Hahn A
    Am J Med Genet A; 2008 Apr; 146A(8):1049-54. PubMed ID: 18348272
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China.
    Luo DQ; Wang XZ; Meng Y; He DY; Chen YM; Ke ZY; Yan M; Huang Y; Chen DF
    BMC Pediatr; 2014 Oct; 14():256. PubMed ID: 25286833
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.
    Ben Yaou R; Navarro C; Quijano-Roy S; Bertrand AT; Massart C; De Sandre-Giovannoli A; Cadiñanos J; Mamchaoui K; Butler-Browne G; Estournet B; Richard P; Barois A; Lévy N; Bonne G
    Eur J Hum Genet; 2011 Jun; 19(6):647-54. PubMed ID: 21267004
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia.
    Garg A; Cogulu O; Ozkinay F; Onay H; Agarwal AK
    J Clin Endocrinol Metab; 2005 Sep; 90(9):5259-64. PubMed ID: 15998779
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation.
    Agarwal AK; Kazachkova I; Ten S; Garg A
    J Clin Endocrinol Metab; 2008 Dec; 93(12):4617-23. PubMed ID: 18796515
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome.
    Al-Haggar M; Madej-Pilarczyk A; Kozlowski L; Bujnicki JM; Yahia S; Abdel-Hadi D; Shams A; Ahmad N; Hamed S; Puzianowska-Kuznicka M
    Eur J Hum Genet; 2012 Nov; 20(11):1134-40. PubMed ID: 22549407
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities.
    Saadi A; Navarro C; Ozalp O; Lourenco CM; Fayek R; Da Silva N; Chaouch A; Benahmed M; Kubisch C; Munnich A; Lévy N; Roll P; Pacha LA; Chaouch M; Lessel D; De Sandre-Giovannoli A
    Am J Med Genet A; 2023 Sep; 191(9):2274-2289. PubMed ID: 37387251
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features.
    Van Esch H; Agarwal AK; Debeer P; Fryns JP; Garg A
    J Clin Endocrinol Metab; 2006 Feb; 91(2):517-21. PubMed ID: 16278265
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Case report: A novel splice-site mutation of
    Fu X; Chen S; Huang X; Lu Q; Cui Y; Lin W; Yang Q
    Front Endocrinol (Lausanne); 2024; 15():1345067. PubMed ID: 38544690
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel LMNA mutation presenting as severe congenital muscular dystrophy.
    Prigogine C; Richard P; Van den Bergh P; Groswasser J; Deconinck N
    Pediatr Neurol; 2010 Oct; 43(4):283-6. PubMed ID: 20837309
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. Mandibuloacral dysplasia and LMNA A529V mutation in Turkish patients with severe skeletal changes and absent breast development.
    Ozer L; Unsal E; Aktuna S; Baltaci V; Celikkol P; Akyigit F; Sen A; Ayvaz O; Balci S
    Clin Dysmorphol; 2016 Jul; 25(3):91-7. PubMed ID: 27100822
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel homozygous LMNA mutation (p.Met540Ile) causes mandibuloacral dysplasia type A.
    Yassaee VR; Khojaste A; Hashemi-Gorji F; Ravesh Z; Toosi P
    Gene; 2016 Feb; 577(1):8-13. PubMed ID: 26602028
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria.
    Kirschner J; Brune T; Wehnert M; Denecke J; Wasner C; Feuer A; Marquardt T; Ketelsen UP; Wieacker P; Bönnemann CG; Korinthenberg R
    Ann Neurol; 2005 Jan; 57(1):148-51. PubMed ID: 15622532
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype.
    Lombardi F; Gullotta F; Columbaro M; Filareto A; D'Adamo M; Vielle A; Guglielmi V; Nardone AM; Azzolini V; Grosso E; Lattanzi G; D'Apice MR; Masala S; Maraldi NM; Sbraccia P; Novelli G
    J Clin Endocrinol Metab; 2007 Nov; 92(11):4467-71. PubMed ID: 17848409
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant.
    Mercuri E; Poppe M; Quinlivan R; Messina S; Kinali M; Demay L; Bourke J; Richard P; Sewry C; Pike M; Bonne G; Muntoni F; Bushby K
    Arch Neurol; 2004 May; 61(5):690-4. PubMed ID: 15148145
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.