Journal of Medical Genetics: 36 (9)

Review article

Monosomy 1p36 (1 September, 1999) Free
Anne Slavotinek, Lisa G Shaffer, Stuart K Shapira

Original articles

A new gene (DYX3) for dyslexia is located on chromosome 2 (1 September, 1999) Free
Toril Fagerheim, Peter Raeymaekers, Finn Egil Tønnessen, Marit Pedersen, Lisbeth Tranebjærg, Herbert A Lubs
The critical region of overlap defining theAZFa male infertility interval of proximal Yq contains three transcribed sequences (1 September, 1999) Free
Carole A Sargent, Catherine A Boucher, Stefan Kirsch, Graeme Brown, Birgit Weiss, Anita Trundley, Paul Burgoyne, Neomie Saut, Christine Durand, Nicolas Levy, Philippe Terriou, Timothy Hargreave, Howard Cooke, Michael Mitchell, Gudrun A Rappold, Nabeel A Affara
Mononucleotide microsatellite instability and germlineMSH6 mutation analysis in early onset colorectal cancer (1 September, 1999) Free
Loveena Verma, Michael F Kane, Cecilia Brassett, James Schmeits, D Gareth R Evans, Richard D Kolodner, Eamonn R Maher
Genetic heterogeneity of gingival fibromatosis on chromosome 2p (1 September, 1999) Free
Vandana Shashi, Debora Pallos, Mark J Pettenati, Jose R Cortelli, Jean-Pierre Fryns, Christopher von Kap-Herr, Thomas C Hart
Contribution of the MHC region to the familial risk of coeliac disease (1 September, 1999) Free
S Bevan, S Popat, C P Braegger, A Busch, D O’Donoghue, K Falth-Magnusson, A Ferguson, A Godkin, L Hogberg, G Holmes, K B Hosie, P D Howdle, H Jenkins, D Jewell, S Johnston, N P Kennedy, G Kerr, P Kumar, R F A Logan, A H G Love, M Marsh, C J J Mulder, K Sjoberg, L Stenhammer, J Walker-Smith, A M Marossy, R S Houlston
Genetic analysis of the guanylate cyclase activator 1B (GUCA1B) gene in patients with autosomal dominant retinal dystrophies (1 September, 1999) Free
Annette M Payne, Susan M Downes, David A R Bessant, Catherine Plant, Tony Moore, Alan C Bird, Shomi S Bhattacharya
Molecular characterisation of partial chromosome 21 aneuploidies by fluorescent PCR (1 September, 1999) Free
Rebeca Valero, Gemma Marfany, Rosario Gil-Benso, Maria de los Angeles Ibáñez, Isidora López-Pajares, Félix Prieto, Gaspar Rullan, Enric Sarret, Roser Gonzàlez-Duarte

Short reports

Neonatal diabetes mellitus and cerebellar hypoplasia/agenesis: report of a new recessive syndrome (1 September, 1999) Free
Nourieh Hoveyda, Julian P H Shield, Christine Garrett, W K ‘Kling’ Chong, Kathryn Beardsall, Esi Bentsi-Enchill, Harish Mallya, Michael H Thompson
Autosomal recessive retinitis pigmentosa locusRP28 maps between D2S1337 and D2S286 on chromosome 2p11-p15 in an Indian family (1 September, 1999) Free
Su-min Gu, Govindasamy Kumaramanickavel, C R Srikumari, Michael J Denton, Andreas Gal
An interstitial deletion of 6p24-p25 proximal to theFKHL7 locus and includingAP-2α that affects anterior eye chamber development. (1 September, 1999) Free
Angela F Davies, Ghazala Mirza, Frances Flinter, Jiannis Ragoussis
Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male (1 September, 1999) Free
L Stuppia, G Calabrese, P Borrelli, V Gatta, E Morizio, R Mingarelli, M C Di Gilio, A Crinò, A Giannotti, G A Rappold, G Palka

Letters to the editor

Limb-girdle muscular dystrophy with apparently different clinical courses within sexes in a large inbred kindred (1 September, 1999) Free
GABRIELA F LEAL, ELIAS O DA-SILVA
Rescue from the effects of trisomy 13q32→qter owing to skewed X inactivation in a der(X)t(X;13)(p21;q32) carrier (1 September, 1999) Free
ELISABETH BLENNOW, SIGRID SAHLÉN
Linkage analysis of 56 multiplex families excludes the Cowden disease genePTEN as a major contributor to familial breast cancer (1 September, 1999) Free
YIN YAO SHUGART*, CAROLE COUR, HELENE RENARD, GILBERT LENOIR, DAVID GOLDGAR, DAWN TEARE, DOUGLAS EASTON, NAZNEEN RAHMAN, ROS GUSTERTON, SHEILA SEAL, RITA BARFOOT, MICHAEL STRATTON, JON MANGION, TAMARA PEELEN, ANS VAN DEN OUWELAND, HANNE MEIJERS, PETER DEVILEE, DIANA ECCLES, HENRY LYNCH, BARBARA WEBER, DOMINIQUE STOPPA-LYONNET, YVES-JEAN BIGNON, JENNY CHANG-CLAUDE
Microdeletion 22q11.2: clinical data and deletion size (1 September, 1999) Free
W S KERSTJENS-FREDERIKSE, H KURAHASHI, D A DRISCOLL, M L BUDARF, B S EMANUEL, B BEATTY, T SCHEIDL, J SIEGEL-BARTELT, K HENDERSON, C CYTRYNBAUM, G NIE, I TESHIMA
Angelman syndrome: AS phenotype correlated with specific EEG pattern may result in a high detection rate of mutations in theUBE3A gene (1 September, 1999) Free
L A E M LAAN, A M W VAN DEN OUWELAND, P L G BAKKER, D J J HALLEY, C E CATSMAN-BERREVOETS
Different genotype of periosteal and endosteal cells of a patient with polyostotic fibrous dysplasia (1 September, 1999) Free
HIROSHI KITOH, YASUKAZU YAMADA, HIROSHI NOGAMI
A probable case of familial Weaver syndrome associated with neoplasia (1 September, 1999) Free
CHRIS DERRY, I KAREN TEMPLE, K VENKAT-RAMAN

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Table of contents

September 1999 - Volume 36 - 9

Review article

Original articles

Short reports

Letters to the editor

Issue Information

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Table of contents

September 1999 - Volume 36 - 9

Review article

Original articles

Short reports

Letters to the editor

Issue Information