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L N Bull

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Articles 11
Citations 542
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Recent Articles
1.
van Mil S, Klomp L, Bull L, Houwen R
Semin Liver Dis . 2001 Dec; 21(4):535-44. PMID: 11745041
FIC1 disease collectively refers to a group of autosomal-recessive familial liver disorders characterized by intrahepatic cholestasis due to mutations in the ATP8B1 gene (initially named FIC1). Classically, FIC1 disease comprises...
2.
Klomp L, Bull L, Knisely A, van Der Doelen M, Juijn J, Berger R, et al.
Hepatology . 2000 Nov; 32(6):1337-41. PMID: 11093741
Greenland familial cholestasis is a severe form of intrahepatic cholestasis described among indigenous Inuit families in Greenland. Patients present with jaundice, pruritus, bleeding episodes, and steatorrhea, and die in childhood...
3.
Bull L, Roche E, Song E, Pedersen J, Knisely A, van der Hagen C, et al.
Am J Hum Genet . 2000 Sep; 67(4):994-9. PMID: 10968776
Patients with cholestasis-lymphedema syndrome (CLS) suffer severe neonatal cholestasis that usually lessens during early childhood and becomes episodic; they also develop chronic severe lymphedema. The genetic cause of CLS is...
4.
Steig B, Juijn J, Bull L, Houwen R, Tygstrup N
Ugeskr Laeger . 2000 Apr; 161(35):4871-4. PMID: 10778315
Recurrent familial intrahepatic cholestasis is an autosomal recessive disorder characterized by episodes of severe pruritus and jaundice lasting for weeks to months without extrahepatic bile duct obstruction. Symptom-free intervals may...
5.
Bull L, Freimer N
Genome Res . 1999 Oct; 9(9):830-8. PMID: 10508841
Most linkage and population genetic studies that use microsatellites assume that the polymorphism observed at these loci is due simply to variation in the number of units of a single...
6.
Bull L, Juijn J, Liao M, Van Eijk M, Sinke R, Stricker N, et al.
Hum Genet . 1999 May; 104(3):241-8. PMID: 10323248
Loci for two inherited liver diseases, benign recurrent intrahepatic cholestasis (BRIC) and progressive familial intrahepatic cholestasis type 1 (PFIC1), have previously been mapped to 18q21 by a search for shared...
7.
Tygstrup N, Steig B, Juijn J, Bull L, Houwen R
Hepatology . 1999 Jan; 29(2):506-8. PMID: 9918928
Recurrent familial intrahepatic cholestasis is an autosomal recessive disorder characterized by episodes of severe pruritus and jaundice lasting for weeks to months without extrahepatic bile duct obstruction. Symptom-free intervals may...
8.
Strautnieks S, Bull L, Knisely A, Kocoshis S, Dahl N, Arnell H, et al.
Nat Genet . 1998 Nov; 20(3):233-8. PMID: 9806540
The progressive familial intrahepatic cholestases (PFIC) are a group of inherited disorders with severe cholestatic liver disease from early infancy. A subgroup characterized by normal serum cholesterol and gamma-glutamyltranspeptidase (gammaGT)...
9.
Bull L, Van Eijk M, Pawlikowska L, DeYoung J, Juijn J, Liao M, et al.
Nat Genet . 1998 Mar; 18(3):219-24. PMID: 9500542
Cholestasis, or impaired bile flow, is an important but poorly understood manifestation of liver disease. Two clinically distinct forms of inherited cholestasis, benign recurrent intrahepatic cholestasis (BRIC) and progressive familial...
10.
Bull L, Carlton V, Stricker N, Baharloo S, DeYoung J, Freimer N, et al.
Hepatology . 1997 Jul; 26(1):155-64. PMID: 9214465
Byler disease (ByD) is an autosomal recessive disorder in which cholestasis of onset in infancy leads to hepatic fibrosis and death. Children who have a clinically similar disorder, but are...