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Journal Abstract Search

107 related items for PubMed ID: 16440877

  • 1. Mandibuloacral dysplasia: a report of two Egyptian cases.
    Afifi HH, El-Bassyouni HT.
    Genet Couns; 2005; 16(4):353-62. PubMed ID: 16440877
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  • 2. Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia.
    Simha V, Garg A.
    J Clin Endocrinol Metab; 2002 Feb; 87(2):776-85. PubMed ID: 11836320
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  • 4. A case of mandibuloacral dysplasia presenting with features of scleroderma.
    Cefle A, Cefle K.
    Int J Clin Pract; 2004 Jun; 58(6):635-8. PubMed ID: 15311567
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  • 5. Two Decades after Mandibuloacral Dysplasia Discovery: Additional Cases and Comprehensive View of Disease Characteristics.
    Jéru I, Nabil A, El-Makkawy G, Lascols O, Vigouroux C, Abdalla E.
    Genes (Basel); 2021 Sep 26; 12(10):. PubMed ID: 34680903
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  • 6. 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 07; 14():256. PubMed ID: 25286833
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  • 9. A severe case of mandibuloacral dysplasia in a girl.
    Schrander-Stumpel C, Spaepen A, Fryns JP, Dumon J.
    Am J Med Genet; 1992 Jul 15; 43(5):877-81. PubMed ID: 1642279
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  • 11. 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 15; 66(11):1000-4. PubMed ID: 23775434
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  • 12. 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 15; 20(11):1134-40. PubMed ID: 22549407
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  • 18. 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 15; 90(9):5259-64. PubMed ID: 15998779
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