BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

207 related articles for article (PubMed ID: 27410998)

  • 1. Failure of ossification of the occipital bone in mandibuloacral dysplasia type B.
    Haye D; Dridi H; Levy J; Lambert V; Lambert M; Agha M; Adjimi F; Kohlhase J; Lipsker D; Verloes A
    Am J Med Genet A; 2016 Oct; 170(10):2750-5. PubMed ID: 27410998
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines.
    Hitzert MM; van der Crabben SN; Baldewsingh G; van Amstel HKP; van den Wijngaard A; van Ravenswaaij-Arts CMA; Zijlmans CWR
    Orphanet J Rare Dis; 2019 Dec; 14(1):294. PubMed ID: 31856865
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 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 caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings.
    Miyoshi Y; Akagi M; Agarwal AK; Namba N; Kato-Nishimura K; Mohri I; Yamagata M; Nakajima S; Mushiake S; Shima M; Auchus RJ; Taniike M; Garg A; Ozono K
    Clin Genet; 2008 Jun; 73(6):535-44. PubMed ID: 18435794
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. Mandibuloacral dysplasia type B in an infant: a rare progeroid genodermatosis.
    Kwan JM
    JAMA Dermatol; 2015 May; 151(5):561-2. PubMed ID: 25629449
    [No Abstract]   [Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24.
    Ahmad Z; Zackai E; Medne L; Garg A
    Am J Med Genet A; 2010 Nov; 152A(11):2703-10. PubMed ID: 20814950
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Diagnosis and genetic analysis of a case with mandibuloacral dysplasia type B due to compound heterozygous mutations of the
    Wu DD; Li R; Li XN; Liu QQ; Dou LH
    Yi Chuan; 2022 Dec; 44(12):1167-1174. PubMed ID: 36927562
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C.
    Shen JJ; Brown CA; Lupski JR; Potocki L
    J Med Genet; 2003 Nov; 40(11):854-7. PubMed ID: 14627682
    [No Abstract]   [Full Text] [Related]  

  • 16. 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]  

  • 17. Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severity.
    Barrowman J; Wiley PA; Hudon-Miller SE; Hrycyna CA; Michaelis S
    Hum Mol Genet; 2012 Sep; 21(18):4084-93. PubMed ID: 22718200
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mandibuloacral dysplasia type A in five tunisian patients.
    R S; H M; M T; A A; M G; I H; E K; K M; F M; R M
    Eur J Med Genet; 2021 Feb; 64(2):104138. PubMed ID: 33422685
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mandibuloacral dysplasia type A in childhood.
    Garavelli L; D'Apice MR; Rivieri F; Bertoli M; Wischmeijer A; Gelmini C; De Nigris V; Albertini E; Rosato S; Virdis R; Bacchini E; Dal Zotto R; Banchini G; Iughetti L; Bernasconi S; Superti-Furga A; Novelli G
    Am J Med Genet A; 2009 Oct; 149A(10):2258-64. PubMed ID: 19764019
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mandibuloacral dysplasia: A premature ageing disease with aspects of physiological ageing.
    Cenni V; D'Apice MR; Garagnani P; Columbaro M; Novelli G; Franceschi C; Lattanzi G
    Ageing Res Rev; 2018 Mar; 42():1-13. PubMed ID: 29208544
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.