Genetic screening / counselling

Report of five novel and one recurrentCOL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder
Geert R Mortier, MaryAnn Weis, Lieve Nuytinck, Lily M King, Douglas J Wilkin, Anne De Paepe, Ralph S Lachman, David L Rimoin, David R Eyre, Daniel H Cohn

Journal of Medical Genetics Apr 2000, 37 (4) 263-271; DOI: 10.1136/jmg.37.4.263
Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C
T C Hart, P S Hart, M D Michalec, Y Zhang, E Firatli, T E Van Dyke, A Stabholz, A Zlorogorski, L Shapira, W A Soskolne

Journal of Medical Genetics Feb 2000, 37 (2) 88-94; DOI: 10.1136/jmg.37.2.88
Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation
T C Hart, P S Hart, M D Michalec, Y Zhang, M L Marazita, M Cooper, O M Yassin, M Nusier, S Walker

Journal of Medical Genetics Feb 2000, 37 (2) 95-101; DOI: 10.1136/jmg.37.2.95
An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14
Peter Lichtner, Rainer König, Tomonobu Hasegawa, Hilde Van Esch, Thomas Meitinger, Simone Schuffenhauer

Journal of Medical Genetics Jan 2000, 37 (1) 33-37; DOI: 10.1136/jmg.37.1.33
A search for evidence of somatic mutations in theNF1 gene
Alison M John, Martino Ruggieri, Ros Ferner, Meena Upadhyaya

Journal of Medical Genetics Jan 2000, 37 (1) 44-49; DOI: 10.1136/jmg.37.1.44
Mutational analysis of the tuberous sclerosis geneTSC2 in patients with pulmonary lymphangioleiomyomatosis
Aristotelis Astrinidis, Leena Khare, Thomas Carsillo, Teresa Smolarek, Kit-Sing Au, Hope Northrup, Elizabeth Petri Henske

Journal of Medical Genetics Jan 2000, 37 (1) 55-57; DOI: 10.1136/jmg.37.1.55
Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome
Thomas C Hart, P Suzanne Hart, Donald W Bowden, Michael D Michalec, Scott A Callison, Steve J Walker, Yingze Zhang, Erhan Firatli

Journal of Medical Genetics Dec 1999, 36 (12) 881-887; DOI: 10.1136/jmg.36.12.881
Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32
Melissa M Lees, Robin M Winter, Sue Malcolm, Howard M Saal, Lyn Chitty

Journal of Medical Genetics Dec 1999, 36 (12) 888-892; DOI: 10.1136/jmg.36.12.888
Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations
Georgios Loudianos, Valeria Dessi, Mario Lovicu, Andrea Angius, Buket Altuntas, Raffaella Giacchino, Maria Marazzi, Matilde Marcellini, Maria Rita Sartorelli, Giacomo Carlo Sturniolo, Nurten Kocak, Aysel Yuce, Nejat Akar, Mario Pirastu, Antonio Cao

Journal of Medical Genetics Nov 1999, 36 (11) 833-836; DOI: 10.1136/jmg.36.11.833
A molecular investigation of true dominance in Huntington’s disease
Yolanda Narain, Andreas Wyttenbach, Julia Rankin, Robert A Furlong, David C Rubinsztein

Journal of Medical Genetics Oct 1999, 36 (10) 739-746; DOI: 10.1136/jmg.36.10.739

Main menu

Genetic screening / counselling

Pages

Log in using your username and password

Main menu

Log in using your username and password

You are here

Genetic screening / counselling

Pages