Genetic screening / counselling

Two male patients with ring Y: definition of an interval in Yq contributing to Turner syndrome
Maria Tzancheva, Radka Kaneva, Philip Kumanov, Gareth Williams, Chris Tyler-Smith

Journal of Medical Genetics Jul 1999, 36 (7) 549-553; DOI: 10.1136/jmg.36.7.549
Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome
P J Coucke, P Van Hauwe, L A Everett, O Demirhan, Y Kabakkaya, N L Dietrich, R J H Smith, E Coyle, W Reardon, R Trembath, P J Willems, E D Green, G Van Camp

Journal of Medical Genetics Jun 1999, 36 (6) 475-477; DOI: 10.1136/jmg.36.6.475
X linked mental retardation and infantile spasms in a family: new clinical data and linkage to Xp11.4-Xp22.11
Petter Strømme, Kjetil Sundet, Cato Mørk, Jean-Jacques Cassiman, Jean-Pierre Fryns, Stephan Claes

Journal of Medical Genetics May 1999, 36 (5) 374-378; DOI: 10.1136/jmg.36.5.374
Connexin26 deafness in several interconnected families
Stephen A Wilcox, Amelia H Osborn, Denise R Allen-Powell, Marion A Maw, Hans-Henrik M Dahl, R J McKinlay Gardner

Journal of Medical Genetics May 1999, 36 (5) 383-385; DOI: 10.1136/jmg.36.5.383
Linkage disequilibrium at the SCA2 locus
Olivier Didierjean, Géraldine Cancel, Giovanni Stevanin, Alexandra Dürr, Katrin Bürk, Ali Benomar, Agnès Lezin, Samir Belal, Myriem Abada-Bendid, Thomas Klockgether, Alexis Brice

Journal of Medical Genetics May 1999, 36 (5) 415-417; DOI: 10.1136/jmg.36.5.415
Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma
Martina Plášilová, Ivaylo Stoilov, Mansoor Sarfarazi, Ludovít Kádasi, Eva Feráková, Vladimír Ferák

Journal of Medical Genetics Apr 1999, 36 (4) 290-294; DOI: 10.1136/jmg.36.4.290
Rapid detection of chromosome aneuploidies by quantitative fluorescence PCR: first application on 247 chorionic villus samples
Barbara Pertl, Susanne Kopp, Peter M Kroisel, Lucia Tului, Bruno Brambati, Matteo Adinolfi

Journal of Medical Genetics Apr 1999, 36 (4) 300-303; DOI: 10.1136/jmg.36.4.300
ERG phenotype of a dystrophin mutation in heterozygous female carriers of Duchenne muscular dystrophy
Kathleen M Fitzgerald, Gerhard W Cibis, Ann Headrick Gettel, Robert Rinaldi, David J Harris, Robert A White

Journal of Medical Genetics Apr 1999, 36 (4) 316-322; DOI: 10.1136/jmg.36.4.316
Cleidocranial dysplasia: clinical and molecular genetics
Stefan Mundlos

Journal of Medical Genetics Mar 1999, 36 (3) 177-182; DOI: 10.1136/jmg.36.3.177
Deletion mapping and X inactivation analysis of a non-specific mental retardation gene at Xp21.3–Xp22.11
Koji Muroya, Ei-ichi Kinoshita, Tsutomu Kamimaki, Nobutake Matsuo, Tohru Yorifugi, Tsutomu Ogata

Journal of Medical Genetics Mar 1999, 36 (3) 187-191; DOI: 10.1136/jmg.36.3.187

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