-
1
-
-
0031750402
-
Lethal autosomal recessive syndrome with intrauterine growth retardation, intra- and extrahepatic biliary atresia, and esophageal and duodenal atresia
-
Anneren G., Meurling S., Lilja H., Wallander J., and von D.U. Lethal autosomal recessive syndrome with intrauterine growth retardation, intra- and extrahepatic biliary atresia, and esophageal and duodenal atresia. Am. J. Med. Genet. 78 (1998) 306-307
-
(1998)
Am. J. Med. Genet.
, vol.78
, pp. 306-307
-
-
Anneren, G.1
Meurling, S.2
Lilja, H.3
Wallander, J.4
von, D.U.5
-
2
-
-
47149086948
-
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., and Crow Y. A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis. Am. J. Med. Genet. A 146A (2008) 1713-1717
-
(2008)
Am. J. Med. Genet. A
, vol.146 A
, pp. 1713-1717
-
-
Chappell, L.1
Gorman, S.2
Campbell, F.3
Ellard, S.4
Rice, G.5
Dobbie, A.6
Crow, Y.7
-
3
-
-
0002600476
-
Neonatal hemochromatosis: evidence for autosomal recessive transmission
-
Driscoll S.G., Hayes A.M., and Levy H.L. Neonatal hemochromatosis: evidence for autosomal recessive transmission. Am. J. Hum. Genet. 43 (1988) A232
-
(1988)
Am. J. Hum. Genet.
, vol.43
-
-
Driscoll, S.G.1
Hayes, A.M.2
Levy, H.L.3
-
4
-
-
33947231185
-
Intrauterine growth retardation, duodenal and extrahepatic biliary atresia, hypoplastic pancreas and other intestinal anomalies: further evidence of the Martinez-Frias syndrome
-
Galan-Gomez E., Sanchez E.B., Arias-Castro S., and Cardesa-Garcia J.J. Intrauterine growth retardation, duodenal and extrahepatic biliary atresia, hypoplastic pancreas and other intestinal anomalies: further evidence of the Martinez-Frias syndrome. Eur. J. Med. Genet. 50 (2007) 144-148
-
(2007)
Eur. J. Med. Genet.
, vol.50
, pp. 144-148
-
-
Galan-Gomez, E.1
Sanchez, E.B.2
Arias-Castro, S.3
Cardesa-Garcia, J.J.4
-
5
-
-
0033527616
-
Esophageal, duodenal, rectoanal and biliary atresia, intestinal malrotation, malformed/hypoplastic pancreas, and hypospadias: further evidence of a new distinct syndrome
-
Gentile M., and Fiorente P. Esophageal, duodenal, rectoanal and biliary atresia, intestinal malrotation, malformed/hypoplastic pancreas, and hypospadias: further evidence of a new distinct syndrome. Am. J. Med. Genet. 87 (1999) 82-83
-
(1999)
Am. J. Med. Genet.
, vol.87
, pp. 82-83
-
-
Gentile, M.1
Fiorente, P.2
-
6
-
-
0034845503
-
Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolism
-
Kelly A.L., Lunt P.W., Rodrigues F., Berry P.J., Flynn D.M., McKiernan P.J., Kelly D.A., Mieli-Vergani G., and Cox T.M. Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolism. J. Med. Genet. 38 (2001) 599-610
-
(2001)
J. Med. Genet.
, vol.38
, pp. 599-610
-
-
Kelly, A.L.1
Lunt, P.W.2
Rodrigues, F.3
Berry, P.J.4
Flynn, D.M.5
McKiernan, P.J.6
Kelly, D.A.7
Mieli-Vergani, G.8
Cox, T.M.9
-
7
-
-
0026775847
-
Tracheoesophageal fistula, gastrointestinal abnormalities, hypospadias, and prenatal growth deficiency
-
Martinez-Frias M.L., Frias J.L., Galan E., Domingo R., Paisan L., and Blanco M. Tracheoesophageal fistula, gastrointestinal abnormalities, hypospadias, and prenatal growth deficiency. Am. J. Med. Genet. 44 (1992) 352-355
-
(1992)
Am. J. Med. Genet.
, vol.44
, pp. 352-355
-
-
Martinez-Frias, M.L.1
Frias, J.L.2
Galan, E.3
Domingo, R.4
Paisan, L.5
Blanco, M.6
-
8
-
-
19944431807
-
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 I.L., Riley P., and Polychronakos C. Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome. Diabetologia 47 (2004) 2160-2167
-
(2004)
Diabetologia
, vol.47
, pp. 2160-2167
-
-
Mitchell, J.1
Punthakee, Z.2
Lo, B.3
Bernard, C.4
Chong, K.5
Newman, C.6
Cartier, L.7
Desilets, V.8
Cutz, E.9
Hansen, I.L.10
Riley, P.11
Polychronakos, C.12
-
9
-
-
0342902204
-
Neonatal diabetes mellitus due to complete glucokinase deficiency
-
Njolstad P.R., Sovik O., Cuesta-Munoz A., Bjorkhaug L., Massa O., Barbetti F., Undlien D.E., Shiota C., Magnuson M.A., Molven A., Matschinsky F.M., and Bell G.I. Neonatal diabetes mellitus due to complete glucokinase deficiency. N. Engl. J. Med. 344 (2001) 1588-1592
-
(2001)
N. Engl. J. Med.
, vol.344
, pp. 1588-1592
-
-
Njolstad, P.R.1
Sovik, O.2
Cuesta-Munoz, A.3
Bjorkhaug, L.4
Massa, O.5
Barbetti, F.6
Undlien, D.E.7
Shiota, C.8
Magnuson, M.A.9
Molven, A.10
Matschinsky, F.M.11
Bell, G.I.12
-
10
-
-
0031031571
-
Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence
-
Stoffers D.A., Zinkin N.T., Stanojevic V., Clarke W.L., and Habener J.F. Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. Nat. Genet. 15 (1997) 106-110
-
(1997)
Nat. Genet.
, vol.15
, pp. 106-110
-
-
Stoffers, D.A.1
Zinkin, N.T.2
Stanojevic, V.3
Clarke, W.L.4
Habener, J.F.5
-
11
-
-
33646001712
-
Fetal and infantile hemochromatosis
-
Whitington P.F. Fetal and infantile hemochromatosis. Hepatology 43 (2006) 654-660
-
(2006)
Hepatology
, vol.43
, pp. 654-660
-
-
Whitington, P.F.1
-
12
-
-
34548127283
-
Neonatal hemochromatosis: a congenital alloimmune hepatitis
-
Whitington P.F. Neonatal hemochromatosis: a congenital alloimmune hepatitis. Semin. Liver Dis. 27 (2007) 243-250
-
(2007)
Semin. Liver Dis.
, vol.27
, pp. 243-250
-
-
Whitington, P.F.1
-
13
-
-
48949090831
-
Outcome of pregnancies at risk for neonatal hemochromatosis is improved by treatment with high-dose intravenous immunoglobulin
-
Whitington P.F., and Kelly S. Outcome of pregnancies at risk for neonatal hemochromatosis is improved by treatment with high-dose intravenous immunoglobulin. Pediatrics 121 (2008) e1615-e1621
-
(2008)
Pediatrics
, vol.121
-
-
Whitington, P.F.1
Kelly, S.2
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