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Journal Abstract Search

249 related items for PubMed ID: 15592663

  • 1. Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome.
    Mitchell J, Punthakee Z, Lo B, Bernard C, Chong K, Newman C, Cartier L, Desilets V, Cutz E, Hansen IL, Riley P, Polychronakos C.
    Diabetologia; 2004 Dec; 47(12):2160-7. PubMed ID: 15592663
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  • 2. Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in RFX6.
    Concepcion JP, Reh CS, Daniels M, Liu X, Paz VP, Ye H, Highland HM, Hanis CL, Greeley SA.
    Pediatr Diabetes; 2014 Feb; 15(1):67-72. PubMed ID: 23914949
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  • 3. Hereditary pancreatic hypoplasia, diabetes mellitus, and congenital heart disease: a new syndrome?
    Yorifuji T, Matsumura M, Okuno T, Shimizu K, Sonomura T, Muroi J, Kuno C, Takahashi Y, Okuno T.
    J Med Genet; 1994 Apr; 31(4):331-3. PubMed ID: 8071961
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  • 4. Intrauterine growth retardation, duodenal and extrahepatic biliary atresia, hypoplastic pancreas and other intestinal anomalies: further evidence of the Martínez-Frías syndrome.
    Galán-Gómez E, Sánchez EB, Arias-Castro S, Cardesa-García JJ.
    Eur J Med Genet; 2007 Apr; 50(2):144-8. PubMed ID: 17321227
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  • 8. Case report: adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutation.
    Sanchez-Lechuga B, Saqlain M, Ng N, Colclough K, Woods C, Byrne M.
    BMC Med Genet; 2020 Apr 03; 21(1):70. PubMed ID: 32245430
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  • 10. Two novel GATA6 mutations cause childhood-onset diabetes mellitus, pancreas malformation and congenital heart disease.
    Gong M, Simaite D, Kühnen P, Heldmann M, Spagnoli F, Blankenstein O, Hübner N, Hussain K, Raile K.
    Horm Res Paediatr; 2013 Apr 03; 79(4):250-6. PubMed ID: 23635550
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  • 13. Neonatal diabetes: new insights into aetiology and implications.
    Shield JP.
    Horm Res; 2000 Apr 03; 53 Suppl 1():7-11. PubMed ID: 10895036
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  • 15. Neonatal diabetes mellitus because of pancreatic agenesis with dysmorphic features and recurrent bacterial infections.
    Taha D, Bardise J, Hegab A, Bonnefond A, Marchand M, Drunat S, Vaxillaire M, Polak M.
    Pediatr Diabetes; 2008 Jun 03; 9(3 Pt 1):240-4. PubMed ID: 18547237
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  • 20. Tracheoesophageal fistula, gastrointestinal abnormalities, hypospadias, and prenatal growth deficiency.
    Martínez-Frías ML, Frías JL, Galán E, Domingo R, Paisán L, Blanco M.
    Am J Med Genet; 1992 Oct 01; 44(3):352-5. PubMed ID: 1488984
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