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Journal Abstract Search

310 related items for PubMed ID: 17321227

  • 1. 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; 50(2):144-8. PubMed ID: 17321227
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. Lethal autosomal recessive syndrome with intrauterine growth retardation, intra- and extrahepatic biliary atresia, and esophageal and duodenal atresia.
    Annerén G, Meurling S, Lilja H, Wallander J, von Döbeln U.
    Am J Med Genet; 1998 Jul 07; 78(3):306-7. PubMed ID: 9677074
    [No Abstract] [Full Text] [Related]

  • 4. Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn.
    Martinovici D, Ransy V, Vanden Eijnden S, Ridremont C, Pardou A, Cassart M, Avni F, Donner C, Lingier P, Mathieu A, Gulbis B, De Brouckère V, Cnop M, Abramowicz M, Désir J.
    Eur J Med Genet; 2010 Jul 07; 53(1):25-8. PubMed ID: 19887127
    [Abstract] [Full Text] [Related]

  • 5. Biliary atresia splenic malformation syndrome--is it a result of embryonically midline rotational defects? A case report.
    Deveci MS, Deveci G.
    J Pediatr Surg; 2000 Sep 07; 35(9):1377-80. PubMed ID: 10999706
    [Abstract] [Full Text] [Related]

  • 6. Esophageal, duodenal, rectoanal and biliary atresia, intestinal malrotation, malformed/hypoplastic pancreas, and hypospadias: further evidence of a new distinct syndrome.
    Gentile M, Fiorente P.
    Am J Med Genet; 1999 Nov 05; 87(1):82-3. PubMed ID: 10528254
    [No Abstract] [Full Text] [Related]

  • 7. Craniomicromelic syndrome: a newly recognized lethal condition with craniosynostosis, distinct facial anomalies, short limbs, and intrauterine growth retardation.
    Barr M, Heidelberger KP, Comstock CH.
    Am J Med Genet; 1995 Sep 25; 58(4):348-52. PubMed ID: 8533844
    [Abstract] [Full Text] [Related]

  • 8. Familial biliary atresia.
    Danesino C, Spadoni E, Buzzi A.
    Am J Med Genet; 1999 Jul 16; 85(2):195. PubMed ID: 10406679
    [No Abstract] [Full Text] [Related]

  • 9. 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 16; 47(12):2160-7. PubMed ID: 15592663
    [Abstract] [Full Text] [Related]

  • 10. Extrahepatic biliary atresia with laterality sequence anomalies.
    Stoll C, Morali A, Leheup B, Lucron H.
    Genet Couns; 2001 Dec 16; 12(2):157-61. PubMed ID: 11491311
    [Abstract] [Full Text] [Related]

  • 11. Guadalajara camptodactyly syndrome. A distinct probably autosomal recessive disorder.
    Cantú JM, Rivera H, Nazará Z, Rojas Q, Hernández A, García-Cruz D.
    Clin Genet; 1980 Sep 16; 18(3):153-9. PubMed ID: 7192193
    [Abstract] [Full Text] [Related]

  • 12. 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 16; 15(1):67-72. PubMed ID: 23914949
    [Abstract] [Full Text] [Related]

  • 13. [Intestinal atresia and bile duct atresia in a new born infant].
    de Mingo L, Cortés MJ, Morato P, Rollán V.
    Cir Pediatr; 2000 Oct 16; 13(4):172-3. PubMed ID: 12601957
    [Abstract] [Full Text] [Related]

  • 14. Multiple gastrointestinal atresias with imperforate anus: pathology and pathogenesis.
    Shen-Schwarz S, Fitko R.
    Am J Med Genet; 1990 Aug 16; 36(4):451-5. PubMed ID: 2202215
    [Abstract] [Full Text] [Related]

  • 15. A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis.
    Chappell L, Gorman S, Campbell F, Ellard S, Rice G, Dobbie A, Crow Y.
    Am J Med Genet A; 2008 Jul 01; 146A(13):1713-7. PubMed ID: 18512226
    [Abstract] [Full Text] [Related]

  • 16. Polysplenia syndrome and splenic hypoplasia associated with extrahepatic biliary atresia.
    Maksem JA.
    Arch Pathol Lab Med; 1980 Apr 01; 104(4):212-4. PubMed ID: 6892684
    [Abstract] [Full Text] [Related]

  • 17. [A fatal autosomal recessive syndrome with multiple congenital contractures].
    Herva R, Leisti J, Kirkinen P, Seppänen U, Martikainen J.
    Duodecim; 1985 Apr 01; 101(8):756-62. PubMed ID: 4039655
    [No Abstract] [Full Text] [Related]

  • 18. Branchial cleft anomaly, congenital heart disease, and biliary atresia: Goldenhar complex or Lambert syndrome?
    Cohen J, Schanen NC.
    Genet Couns; 2000 Apr 01; 11(2):153-6. PubMed ID: 10893666
    [Abstract] [Full Text] [Related]

  • 19. Severe combined immunodeficiency syndrome associated with autosomal recessive familial multiple gastrointestinal atresias: study of a family.
    Moreno LA, Gottrand F, Turck D, Manouvrier-Hanu S, Mazingue F, Morisot C, Le Deist F, Ricour C, Nihoul-Feketé C, Debeugny P.
    Am J Med Genet; 1990 Sep 01; 37(1):143-6. PubMed ID: 2240032
    [Abstract] [Full Text] [Related]

  • 20. Congenital hypoplastic anaemia in a patient with a new multiple congenital anomalies-mental retardation syndrome.
    Mori PG, Priolo M, Lerone M, Pasino M, Caroli F, Cusano R, Seri M, Silengo MC.
    Am J Med Genet; 1999 Nov 05; 87(1):36-9. PubMed ID: 10528244
    [Abstract] [Full Text] [Related]

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