| 1 | LMNA, MADYS1
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| Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24.
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| Ahmad Z, Zackai E, Medne L, Garg A.
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| Am J Med Genet A m J Med Genet A. 2010 Sep 2. [Epub ahead of print]PMID: 20814950 2010
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| 2 | LMNA, MADYS1
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| Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy.
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| Zirn B, Kress W, Grimm T, Berthold LD, Neubauer B, Kuchelmeister K, MŸller U, Hahn A.
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| Am J Med Genet A 146A(8):1049-54. 2008
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| 3 | MADYS1, MMP9
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| Increased release and activity of matrix metalloproteinase-9 in patients with mandibuloacral dysplasia type A, a rare premature ageing syndrome.
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| Lombardi F, Fasciglione GF, D'Apice MR, Vielle A, D'Adamo M, Sbraccia P, Marini S, Borgiani P, Coletta M, Novelli G.
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| Clin Genet 74(4):374-83. Epub 2008 Jun 28. 2008
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| 4 | LMNA, MADYS1
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| The R527H mutation in LMNA gene causes an increased sensitivity to ionizing radiation.
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| di Masi A, D'Apice MR, Ricordy R, Tanzarella C, Novelli G.
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| Cell Cycle 7(13):2030-7. Epub 2008 Apr 11.PMID: 18604166 2008
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| 5 | MADYS1, LMNA
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| Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes.
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| 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.
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| Am J Med Genet A 143(21):2598-603. 2007
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| 6 | MADYS1, LMNA
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| Compound Heterozygosity for Mutations in LMNA in a Patient with a Myopathic and Lipodystrophic Mandibuloacral Dysplasia Type A Phenotype.
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| 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.
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| J Clin Endocrinol Metab 92(11):4467-71. Epub 2007 Sep 11. 2007
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| 7 | LMNA, EMD2 , LGMD1B , CMD1A , CMT2B1 , FPLD2 , MADYS1 , PRO1 , WRN2 , RDMP2 , LDHCP , EMD3 , MCPRS
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| The laminopathies: a clinical review.
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| Rankin J, Ellard S.
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| Clin Genet 70(4):261-74. 2006
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| 8 | LMNA, EMD2, EMD3, LGMD1B, CMD1A, CMT2B1, FPLD2, MADYS1, PRO1, WRN2, RDMP2 , LDHCP, MCPRS
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| Human laminopathies: nuclei gone genetically awry.
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| Capell BC, Collins FS.
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| Nat Rev Genet 7(12):940-52. 2006
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| 9 | MADYS1, MADYS2, ZMPSTE24
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| Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.
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| Agarwal AK, Fryns JP, Auchus RJ, Garg A.
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| Hum Mol Genet 12(16):1995-2001. 2003
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| 10 | MADYS1, LMNA
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| Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C.
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| Shen JJ, Brown CA, Lupski JR, Potocki L.
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| J Med Genet 40(11):854-7. No abstract available. 2003
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