Gastroenterology

Founder mutations of CYP1B1 gene in patients with congenital glaucoma from the United States and Brazil
D F Sena, S Finzi, K Rodgers, E Del Bono, J L Haines, J L Wiggs

Journal of Medical Genetics Jan 2004, 41 (1) e6; DOI: 10.1136/jmg.2003.010777
Molecular characterisation of a supernumerary ring chromosome in a patient with VATER association
ROBERTA CINTI, MANUELA PRIOLO, MARGHERITA LERONE, GIORGIO GIMELLI, MARCO SERI, MARGHERITA SILENGO, ROBERTO RAVAZZOLO

Journal of Medical Genetics Feb 2001, 38 (2) e6; DOI: 10.1136/jmg.38.2.e6
Deletion in the ABL gene resulting from a meiotic recombination of a maternal (3;22;9)(q22;q12;q34.1) translocation
A Aboura, P Labrune, F Perreaux, V Poncet, S Brisset, L Foix-L’Helias, G Tachdjian

Journal of Medical Genetics Jan 2003, 40 (1) e6; DOI: 10.1136/jmg.40.1.e6
A rare case of a de novo dup(19q) associated with a mild phenotype
M Qorri, P Oei, H Dockery, J McGaughran

Journal of Medical Genetics Oct 2002, 39 (10) e61; DOI: 10.1136/jmg.39.10.e61
Polymorphisms of UDP-glucuronosyltransferase 1A7 are not involved in pancreatic diseases
M Verlaan, J P H Drenth, K Truninger, M Koudova, H-U Schulz, M Bargetzi, B Künzli, H Friess, M Cerny, A Kage, O Landt, R H M te Morsche, J Rosendahl, W Luck, R Nickel, J Halangk, M Becker, M Macek, J B M J Jansen, H Witt

Journal of Medical Genetics Oct 2005, 42 (10) e62; DOI: 10.1136/jmg.2005.032599
Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD)
C Bergmann, F Küpper, C P Schmitt, U Vester, T J Neuhaus, J Senderek, K Zerres

Journal of Medical Genetics Oct 2005, 42 (10) e63; DOI: 10.1136/jmg.2005.032318
Molecular alterations in mitochondrial DNA of hepatocellular carcinomas: is there a correlation with clinicopathological profile?
L-J C Wong, D-J Tan, R-K Bai, K-T Yeh, J Chang

Journal of Medical Genetics May 2004, 41 (5) e65; DOI: 10.1136/jmg.2003.013532
Germline mutation analysis of the transforming growth factor β receptor type II (TGFBR2) and E-cadherin (CDH1) genes in early onset and familial colorectal cancer
LOVEENA VERMA, TIMOTHY R PORTER, FRANCES M RICHARDS, M HELEN RAJPAR, D GARETH R EVANS, FIONA MACDONALD, EAMONN R MAHER

Journal of Medical Genetics Feb 2001, 38 (2) e7; DOI: 10.1136/jmg.38.2.e7
ABCB4 gene sequence variation in women with intrahepatic cholestasis of pregnancy
R Müllenbach, K J Linton, S Wiltshire, N Weerasekera, J Chambers, E Elias, C F Higgins, D G Johnston, M I McCarthy, C Williamson

Journal of Medical Genetics May 2003, 40 (5) e70; DOI: 10.1136/jmg.40.5.e70
Bayesian risk assessment for autosomal recessive diseases: fetal echogenic bowel with one or no detectable CFTR mutation
S Ogino, R B Wilson, W W Grody

Journal of Medical Genetics May 2004, 41 (5) e70; DOI: 10.1136/jmg.2003.015065

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