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September 1999 (Volume 36, Number 9). [Index by author]

		Review articles Original articles Short reports Letters to the editor

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Review articles

Monosomy 1p36
Anne Slavotinek, Lisa G Shaffer, and Stuart K Shapira
J Med Genet 1999; 36: 657-663. doi:10.1136/jmg.36.9.657 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

A new gene (DYX3) for dyslexia is located on chromosome 2
Toril Fagerheim, Peter Raeymaekers, Finn Egil Tønnessen, Marit Pedersen, Lisbeth Tranebjærg, and Herbert A Lubs
J Med Genet 1999; 36: 664-669. doi:10.1136/jmg.36.9.664 [Abstract] [Full text] [PDF] [Request Permissions]

The critical region of overlap defining the AZFa male infertility interval of proximal Yq contains three transcribed sequences
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, and Nabeel A Affara
J Med Genet 1999; 36: 670-677. doi:10.1136/jmg.36.9.670 [Abstract] [Full text] [PDF] [Request Permissions]

Mononucleotide microsatellite instability and germline MSH6 mutation analysis in early onset colorectal cancer
Loveena Verma, Michael F Kane, Cecilia Brassett, James Schmeits, D Gareth R Evans, Richard D Kolodner, and Eamonn R Maher
J Med Genet 1999; 36: 678-682. doi:10.1136/jmg.36.9.678 [Abstract] [Full text] [PDF] [Request Permissions]

Genetic heterogeneity of gingival fibromatosis on chromosome 2p
Vandana Shashi, Debora Pallos, Mark J Pettenati, Jose R Cortelli, Jean-Pierre Fryns, Christopher von Kap-Herr, and Thomas C Hart
J Med Genet 1999; 36: 683-686. doi:10.1136/jmg.36.9.683 [Abstract] [Full text] [PDF] [Request Permissions]

Contribution of the MHC region to the familial risk of coeliac disease
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, and R S Houlston
J Med Genet 1999; 36: 687-690. doi:10.1136/jmg.36.9.687 [Abstract] [Full text] [PDF] [Request Permissions]

Genetic analysis of the guanylate cyclase activator 1B (GUCA1B) gene in patients with autosomal dominant retinal dystrophies
Annette M Payne, Susan M Downes, David A R Bessant, Catherine Plant, Tony Moore, Alan C Bird, and Shomi S Bhattacharya
J Med Genet 1999; 36: 691-693. doi:10.1136/jmg.36.9.691 [Abstract] [Full text] [PDF] [Request Permissions]

Molecular characterisation of partial chromosome 21 aneuploidies by fluorescent PCR
Rebeca Valero, Gemma Marfany, Rosario Gil-Benso, Maria de los Angeles Ibáñez, Isidora López-Pajares, Félix Prieto, Gaspar Rul.lan, Enric Sarret, and Roser Gonzàlez-Duarte
J Med Genet 1999; 36: 694-699. doi:10.1136/jmg.36.9.694 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

Neonatal diabetes mellitus and cerebellar hypoplasia/agenesis: report of a new recessive syndrome
Nourieh Hoveyda, Julian P H Shield, Christine Garrett, W K `Kling' Chong, Kathryn Beardsall, Esi Bentsi-Enchill, Harish Mallya, and Michael H Thompson
J Med Genet 1999; 36: 700-704. doi:10.1136/jmg.36.9.700 [Abstract] [Full text] [PDF] [Request Permissions]

Autosomal recessive retinitis pigmentosa locus RP28 maps between D2S1337 and D2S286 on chromosome 2p11-p15 in an Indian family
Su-min Gu, Govindasamy Kumaramanickavel, C R Srikumari, Michael J Denton, and Andreas Gal
J Med Genet 1999; 36: 705-707. doi:10.1136/jmg.36.9.705 [Abstract] [Full text] [PDF] [Request Permissions]

An interstitial deletion of 6p24-p25 proximal to the FKHL7 locus and including AP-2 $alpha$ that affects anterior eye chamber development.
Angela F Davies, Ghazala Mirza, Frances Flinter, and Jiannis Ragoussis
J Med Genet 1999; 36: 708-710. doi:10.1136/jmg.36.9.708 [Abstract] [Full text] [PDF] [Request Permissions]

Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male
L Stuppia, G Calabrese, P Borrelli, V Gatta, E Morizio, R Mingarelli, M C Di Gilio, A Crinò, A Giannotti, G A Rappold, and G Palka
J Med Genet 1999; 36: 711-713. doi:10.1136/jmg.36.9.711 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to the editor

Limb-girdle muscular dystrophy with apparently different clinical courses within sexes in a large inbred kindred
GABRIELA F LEAL and ELIAS O DA-SILVA
J Med Genet 1999; 36: 714-718. doi:10.1136/jmg.36.9.714 [Extract] [Full text] [PDF] [Request Permissions]

Rescue from the effects of trisomy 13q32 $right-arrow$ qter owing to skewed X inactivation in a der(X)t(X;13)(p21;q32) carrier
ELISABETH BLENNOW and SIGRID SAHLÉN
J Med Genet 1999; 36: 718-719. doi:10.1136/jmg.36.9.718 [Extract] [Full text] [Request Permissions]

Linkage analysis of 56 multiplex families excludes the Cowden disease gene PTEN as a major contributor to familial breast cancer
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, and JENNY CHANG-CLAUDE
J Med Genet 1999; 36: 720-721. doi:10.1136/jmg.36.9.720 [Extract] [Full text] [Request Permissions]

Microdeletion 22q11.2: clinical data and deletion size
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, and I TESHIMA
J Med Genet 1999; 36: 721-723. doi:10.1136/jmg.36.9.721 [Extract] [Full text] [Request Permissions]

Angelman syndrome: AS phenotype correlated with specific EEG pattern may result in a high detection rate of mutations in the UBE3A gene
L A E M LAAN, A M W VAN DEN OUWELAND, P L G BAKKER, D J J HALLEY, and C E CATSMAN-BERREVOETS
J Med Genet 1999; 36: 723-724. doi:10.1136/jmg.36.9.723 [Extract] [Full text] [Request Permissions]

Different genotype of periosteal and endosteal cells of a patient with polyostotic fibrous dysplasia
HIROSHI KITOH, YASUKAZU YAMADA, and HIROSHI NOGAMI
J Med Genet 1999; 36: 724-725. doi:10.1136/jmg.36.9.724 [Extract] [Full text] [Request Permissions]

A probable case of familial Weaver syndrome associated with neoplasia
CHRIS DERRY, I KAREN TEMPLE, and K VENKAT-RAMAN
J Med Genet 1999; 36: 725-728. doi:10.1136/jmg.36.9.725 [Extract] [Full text] [Request Permissions]

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	Monosomy 1p36 Anne Slavotinek, Lisa G Shaffer, and Stuart K Shapira J Med Genet 1999; 36: 657-663. doi:10.1136/jmg.36.9.657 [Abstract] [Full text] [PDF] [Request Permissions]

	*A new gene (DYX3) for dyslexia is located on chromosome 2* Toril Fagerheim, Peter Raeymaekers, Finn Egil Tønnessen, Marit Pedersen, Lisbeth Tranebjærg, and Herbert A Lubs J Med Genet 1999; 36: 664-669. doi:10.1136/jmg.36.9.664 [Abstract] [Full text] [PDF] [Request Permissions]

	*The critical region of overlap defining the AZFa* male infertility interval of proximal Yq contains three transcribed sequences** 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, and Nabeel A Affara J Med Genet 1999; 36: 670-677. doi:10.1136/jmg.36.9.670 [Abstract] [Full text] [PDF] [Request Permissions]

	*Mononucleotide microsatellite instability and germline MSH6* mutation analysis in early onset colorectal cancer** Loveena Verma, Michael F Kane, Cecilia Brassett, James Schmeits, D Gareth R Evans, Richard D Kolodner, and Eamonn R Maher J Med Genet 1999; 36: 678-682. doi:10.1136/jmg.36.9.678 [Abstract] [Full text] [PDF] [Request Permissions]

	Genetic heterogeneity of gingival fibromatosis on chromosome 2p Vandana Shashi, Debora Pallos, Mark J Pettenati, Jose R Cortelli, Jean-Pierre Fryns, Christopher von Kap-Herr, and Thomas C Hart J Med Genet 1999; 36: 683-686. doi:10.1136/jmg.36.9.683 [Abstract] [Full text] [PDF] [Request Permissions]

	Contribution of the MHC region to the familial risk of coeliac disease 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, and R S Houlston J Med Genet 1999; 36: 687-690. doi:10.1136/jmg.36.9.687 [Abstract] [Full text] [PDF] [Request Permissions]

	*Genetic analysis of the guanylate cyclase activator 1B (GUCA1B) gene in patients with autosomal dominant retinal dystrophies* Annette M Payne, Susan M Downes, David A R Bessant, Catherine Plant, Tony Moore, Alan C Bird, and Shomi S Bhattacharya J Med Genet 1999; 36: 691-693. doi:10.1136/jmg.36.9.691 [Abstract] [Full text] [PDF] [Request Permissions]

	Molecular characterisation of partial chromosome 21 aneuploidies by fluorescent PCR Rebeca Valero, Gemma Marfany, Rosario Gil-Benso, Maria de los Angeles Ibáñez, Isidora López-Pajares, Félix Prieto, Gaspar Rul.lan, Enric Sarret, and Roser Gonzàlez-Duarte J Med Genet 1999; 36: 694-699. doi:10.1136/jmg.36.9.694 [Abstract] [Full text] [PDF] [Request Permissions]

	Neonatal diabetes mellitus and cerebellar hypoplasia/agenesis: report of a new recessive syndrome Nourieh Hoveyda, Julian P H Shield, Christine Garrett, W K `Kling' Chong, Kathryn Beardsall, Esi Bentsi-Enchill, Harish Mallya, and Michael H Thompson J Med Genet 1999; 36: 700-704. doi:10.1136/jmg.36.9.700 [Abstract] [Full text] [PDF] [Request Permissions]

	*Autosomal recessive retinitis pigmentosa locus RP28* maps between D2S1337 and D2S286 on chromosome 2p11-p15 in an Indian family** Su-min Gu, Govindasamy Kumaramanickavel, C R Srikumari, Michael J Denton, and Andreas Gal J Med Genet 1999; 36: 705-707. doi:10.1136/jmg.36.9.705 [Abstract] [Full text] [PDF] [Request Permissions]

	*An interstitial deletion of 6p24-p25 proximal to the FKHL7* locus and including AP-2 $alpha$ that affects anterior eye chamber development.** Angela F Davies, Ghazala Mirza, Frances Flinter, and Jiannis Ragoussis J Med Genet 1999; 36: 708-710. doi:10.1136/jmg.36.9.708 [Abstract] [Full text] [PDF] [Request Permissions]

	*Loss of the SHOX* gene associated with Leri-Weill dyschondrosteosis in a 45,X male** L Stuppia, G Calabrese, P Borrelli, V Gatta, E Morizio, R Mingarelli, M C Di Gilio, A Crinò, A Giannotti, G A Rappold, and G Palka J Med Genet 1999; 36: 711-713. doi:10.1136/jmg.36.9.711 [Abstract] [Full text] [PDF] [Request Permissions]

	Limb-girdle muscular dystrophy with apparently different clinical courses within sexes in a large inbred kindred GABRIELA F LEAL and ELIAS O DA-SILVA J Med Genet 1999; 36: 714-718. doi:10.1136/jmg.36.9.714 [Extract] [Full text] [PDF] [Request Permissions]

	Rescue from the effects of trisomy 13q32 $right-arrow$ qter owing to skewed X inactivation in a der(X)t(X;13)(p21;q32) carrier ELISABETH BLENNOW and SIGRID SAHLÉN J Med Genet 1999; 36: 718-719. doi:10.1136/jmg.36.9.718 [Extract] [Full text] [Request Permissions]

	*Linkage analysis of 56 multiplex families excludes the Cowden disease gene PTEN* as a major contributor to familial breast cancer** 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, and JENNY CHANG-CLAUDE J Med Genet 1999; 36: 720-721. doi:10.1136/jmg.36.9.720 [Extract] [Full text] [Request Permissions]

	Microdeletion 22q11.2: clinical data and deletion size 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, and I TESHIMA J Med Genet 1999; 36: 721-723. doi:10.1136/jmg.36.9.721 [Extract] [Full text] [Request Permissions]

	*Angelman syndrome: AS phenotype correlated with specific EEG pattern may result in a high detection rate of mutations in the UBE3A* gene** L A E M LAAN, A M W VAN DEN OUWELAND, P L G BAKKER, D J J HALLEY, and C E CATSMAN-BERREVOETS J Med Genet 1999; 36: 723-724. doi:10.1136/jmg.36.9.723 [Extract] [Full text] [Request Permissions]

	Different genotype of periosteal and endosteal cells of a patient with polyostotic fibrous dysplasia HIROSHI KITOH, YASUKAZU YAMADA, and HIROSHI NOGAMI J Med Genet 1999; 36: 724-725. doi:10.1136/jmg.36.9.724 [Extract] [Full text] [Request Permissions]

	A probable case of familial Weaver syndrome associated with neoplasia CHRIS DERRY, I KAREN TEMPLE, and K VENKAT-RAMAN J Med Genet 1999; 36: 725-728. doi:10.1136/jmg.36.9.725 [Extract] [Full text] [Request Permissions]