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December 1999 (Volume 36, Number 12). [Index by author]

		Review articles Original articles Short reports Letters to the editor

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Review articles

Familial gastric cancer: overview and guidelines for management*
Carlos Caldas, Fatima Carneiro, Henry T Lynch, Jun Yokota, Georgia L Wiesner, Steven M Powell, Frank R Lewis, David G Huntsman, Paul D P Pharoah, Janusz A Jankowski, Patrick MacLeod, Holger Vogelsang, Gisela Keller, Ken G M Park, Frances M Richards, Eamonn R Maher, Simon A Gayther, Carla Oliveira, Nicola Grehan, Derek Wight, Raquel Seruca, Franco Roviello, Bruce A J Ponder, and Charles E Jackson
J Med Genet 1999; 36: 873-880. doi:10.1136/jmg.36.12.873 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

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, and Erhan Firatli
J Med Genet 1999; 36: 881-887. doi:10.1136/jmg.36.12.881 [Abstract] [Full text] [PDF] [Request Permissions]

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, and Lyn Chitty
J Med Genet 1999; 36: 888-892. doi:10.1136/jmg.36.12.888 [Abstract] [Full text] [PDF] [Request Permissions]

Unusual clustering of brain tumours in a family with NF1 and variable expression of cutaneous features
F Faravelli, M Upadhyaya, M Osborn, S M Huson, R Hayward, and R Winter
J Med Genet 1999; 36: 893-896. doi:10.1136/jmg.36.12.893 [Abstract] [Full text] [PDF] [Request Permissions]

Psychological functioning before predictive testing for Huntington's disease: the role of the parental disease, risk perception, and subjective proximity of the disease
Marleen Decruyenaere, Gerry Evers-Kiebooms, Andrea Boogaerts, Jean Jacques Cassiman, Trees Cloostermans, Koen Demyttenaere, René Dom, and Jean Pierre Fryns
J Med Genet 1999; 36: 897-905. doi:10.1136/jmg.36.12.897 [Abstract] [Full text] [PDF] [Request Permissions]

Presymptomatic testing for BRCA1 and BRCA2: how distressing are the pre-test weeks?
L N Lodder, P G Frets, R W Trijsburg, E J Meijers-Heijboer, J G M Klijn, H J Duivenvoorden, A Tibben, A Wagner, C A van der Meer, P Devilee, C J Cornelisse, M F Niermeijer, and other members of the Rotterdam/Leiden Genetics Working Group*
J Med Genet 1999; 36: 906-913. doi:10.1136/jmg.36.12.906 [Abstract] [Full text] [PDF] [Request Permissions]

Neocentromere formation in a stable ring 1p32-p36.1 chromosome
Howard R Slater, Sara Nouri, Elizabeth Earle, Anthony W I Lo, Lyndon G Hale, and K H Andy Choo
J Med Genet 1999; 36: 914-918. doi:10.1136/jmg.36.12.914 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

A proven de novo germline mutation in HNPCC
C Kraus, S Kastl, K Günther, S Klessinger, W Hohenberger, and W G Ballhausen
J Med Genet 1999; 36: 919-921. doi:10.1136/jmg.36.12.919 [Abstract] [Full text] [PDF] [Request Permissions]

Mutational analysis of the HGO gene in Finnish alkaptonuria patients
Daniel Beltrán-Valero de Bernabé, Pärt Peterson, Kristiina Luopajärvi, Pirjo Matintalo, Antti Alho, Yrjö Konttinen, Kai Krohn, Santiago Rodríguez de Córdoba, and Annamari Ranki
J Med Genet 1999; 36: 922-923. doi:10.1136/jmg.36.12.922 [Abstract] [Full text] [PDF] [Request Permissions]

Skewed sex ratios in familial holoprosencephaly and in people with isolated single maxillary central incisor
Graeme Suthers, Scott Smith, and Sue Springbett
J Med Genet 1999; 36: 924-926. doi:10.1136/jmg.36.12.924 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to the editor

Leigh syndrome transmitted by uniparental disomy of chromosome 9
VALERIA TIRANTI, ELEONORA LAMANTEA, GRAZIELLA UZIEL, MASSIMO ZEVIANI, PAOLO GASPARINI, ROSALIA MARZELLA, MARIANO ROCCHI, and MIKE FRIED
J Med Genet 1999; 36: 927-928. doi:10.1136/jmg.36.12.927 [Extract] [Full text] [PDF] [Request Permissions]

A case of Williams syndrome with a large, visible cytogenetic deletion
YUAN-QING WU, ELIZABETH NICKERSON, LISA G SHAFFER, KIM KEPPLER-NOREUIL, and ANN MUILENBURG
J Med Genet 1999; 36: 931-932. doi:10.1136/jmg.36.12.931 [Extract] [Full text] [PDF] [Request Permissions]

First molecular evidence for a de novo mutation in RS1 (XLRS1) associated with X linked juvenile retinoschisis
ANDREA GEHRIG, BERNHARD H F WEBER, BIRGIT LORENZ, and MONIKA ANDRASSI
J Med Genet 1999; 36: 933-934. doi:10.1136/jmg.36.12.933 [Extract] [Full text] [PDF] [Request Permissions]

Pathogenicity of homoplasmic mitochondrial DNA mutation and nuclear gene involvement
MASATO ODAWARA, HISATAKA MAKI, and NOBUHIRO YAMADA
J Med Genet 1999; 36: 934-935. doi:10.1136/jmg.36.12.934 [Extract] [Full text] [PDF] [Request Permissions]

Identification and clinical presentation of $beta$ thalassaemia mutations in the eastern region of Saudi Arabia
EL-HARITH A EL-HARITH, WOLFGANG KÜHNAU, JÖRG SCHMIDTKE, MANFRED STUHRMANN, ZAKI NASSERALLAH, and ABDALLAH AL-SHAHRI
J Med Genet 1999; 36: 936-937. doi:10.1136/jmg.36.12.936 [Extract] [Full text] [PDF] [Request Permissions]

Rapid screening for the most common $beta$ thalassaemia mutations in south east Asia by PCR based restriction fragment length polymorphism analysis (PCR-RFLP)
PATCHARIN PRAMOONJAGO, ALIDA HARAHAP, RATNA AGUNG TAUFANI, ISWARI SETIANINGSIH, SANGKOT MARZUKI, and ALIDA HARAHAP
J Med Genet 1999; 36: 937-938. doi:10.1136/jmg.36.12.937 [Extract] [Full text] [PDF] [Request Permissions]

Clinical and molecular findings in a patient with a deletion on the long arm of chromosome 12
ANGELA F BRADY, MADIHA M ELSAWI, C RUTH JAMIESON, KAREN MARKS, STEVE JEFFERY, MICHAEL A PATTON, LILY MURTAZA, and MARTIN O SAVAGE
J Med Genet 1999; 36: 940-941. doi:10.1136/jmg.36.12.940 [Extract] [Full text] [PDF] [Request Permissions]

Amelogenesis imperfecta, sensorineural hearing loss, and Beau's lines: a second case report of Heimler's syndrome
MARC TISCHKOWITZ, CATHERINE CLENAGHAN, SALLY DAVIES, LINDSAY HUNTER, JOHN POTTS, and SENNO VERHOEF
J Med Genet 1999; 36: 942-943. doi:10.1136/jmg.36.12.942 [Extract] [Full text] [PDF] [Request Permissions]

PTEN and LKB1 genes in laryngeal tumours
REN WEI CHEN, EGLE AVIZIENYTE, STINA ROTH, ILMO LEIVO, ANTTI A MÄKITIE, LEENA-MAIJA AALTONEN, and LAURI A AALTONEN
J Med Genet 1999; 36: 943-944. doi:10.1136/jmg.36.12.943 [Extract] [Full text] [PDF] [Request Permissions]

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	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, and Erhan Firatli J Med Genet 1999; 36: 881-887. doi:10.1136/jmg.36.12.881 [Abstract] [Full text] [PDF] [Request Permissions]

	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, and Lyn Chitty J Med Genet 1999; 36: 888-892. doi:10.1136/jmg.36.12.888 [Abstract] [Full text] [PDF] [Request Permissions]

	Unusual clustering of brain tumours in a family with NF1 and variable expression of cutaneous features F Faravelli, M Upadhyaya, M Osborn, S M Huson, R Hayward, and R Winter J Med Genet 1999; 36: 893-896. doi:10.1136/jmg.36.12.893 [Abstract] [Full text] [PDF] [Request Permissions]

	Psychological functioning before predictive testing for Huntington's disease: the role of the parental disease, risk perception, and subjective proximity of the disease Marleen Decruyenaere, Gerry Evers-Kiebooms, Andrea Boogaerts, Jean Jacques Cassiman, Trees Cloostermans, Koen Demyttenaere, René Dom, and Jean Pierre Fryns J Med Genet 1999; 36: 897-905. doi:10.1136/jmg.36.12.897 [Abstract] [Full text] [PDF] [Request Permissions]

	*Presymptomatic testing for BRCA1* and BRCA2: how distressing are the pre-test weeks?** L N Lodder, P G Frets, R W Trijsburg, E J Meijers-Heijboer, J G M Klijn, H J Duivenvoorden, A Tibben, A Wagner, C A van der Meer, P Devilee, C J Cornelisse, M F Niermeijer, and other members of the Rotterdam/Leiden Genetics Working Group* J Med Genet 1999; 36: 906-913. doi:10.1136/jmg.36.12.906 [Abstract] [Full text] [PDF] [Request Permissions]

	Neocentromere formation in a stable ring 1p32-p36.1 chromosome Howard R Slater, Sara Nouri, Elizabeth Earle, Anthony W I Lo, Lyndon G Hale, and K H Andy Choo J Med Genet 1999; 36: 914-918. doi:10.1136/jmg.36.12.914 [Abstract] [Full text] [PDF] [Request Permissions]

	A proven de novo germline mutation in HNPCC C Kraus, S Kastl, K Günther, S Klessinger, W Hohenberger, and W G Ballhausen J Med Genet 1999; 36: 919-921. doi:10.1136/jmg.36.12.919 [Abstract] [Full text] [PDF] [Request Permissions]

	*Mutational analysis of the HGO* gene in Finnish alkaptonuria patients** Daniel Beltrán-Valero de Bernabé, Pärt Peterson, Kristiina Luopajärvi, Pirjo Matintalo, Antti Alho, Yrjö Konttinen, Kai Krohn, Santiago Rodríguez de Córdoba, and Annamari Ranki J Med Genet 1999; 36: 922-923. doi:10.1136/jmg.36.12.922 [Abstract] [Full text] [PDF] [Request Permissions]

	Skewed sex ratios in familial holoprosencephaly and in people with isolated single maxillary central incisor Graeme Suthers, Scott Smith, and Sue Springbett J Med Genet 1999; 36: 924-926. doi:10.1136/jmg.36.12.924 [Abstract] [Full text] [PDF] [Request Permissions]

	Leigh syndrome transmitted by uniparental disomy of chromosome 9 VALERIA TIRANTI, ELEONORA LAMANTEA, GRAZIELLA UZIEL, MASSIMO ZEVIANI, PAOLO GASPARINI, ROSALIA MARZELLA, MARIANO ROCCHI, and MIKE FRIED J Med Genet 1999; 36: 927-928. doi:10.1136/jmg.36.12.927 [Extract] [Full text] [PDF] [Request Permissions]

	A case of Williams syndrome with a large, visible cytogenetic deletion YUAN-QING WU, ELIZABETH NICKERSON, LISA G SHAFFER, KIM KEPPLER-NOREUIL, and ANN MUILENBURG J Med Genet 1999; 36: 931-932. doi:10.1136/jmg.36.12.931 [Extract] [Full text] [PDF] [Request Permissions]

	*First molecular evidence for a de novo mutation in RS1* (XLRS1) associated with X linked juvenile retinoschisis** ANDREA GEHRIG, BERNHARD H F WEBER, BIRGIT LORENZ, and MONIKA ANDRASSI J Med Genet 1999; 36: 933-934. doi:10.1136/jmg.36.12.933 [Extract] [Full text] [PDF] [Request Permissions]

	Pathogenicity of homoplasmic mitochondrial DNA mutation and nuclear gene involvement MASATO ODAWARA, HISATAKA MAKI, and NOBUHIRO YAMADA J Med Genet 1999; 36: 934-935. doi:10.1136/jmg.36.12.934 [Extract] [Full text] [PDF] [Request Permissions]

	Identification and clinical presentation of $beta$ thalassaemia mutations in the eastern region of Saudi Arabia EL-HARITH A EL-HARITH, WOLFGANG KÜHNAU, JÖRG SCHMIDTKE, MANFRED STUHRMANN, ZAKI NASSERALLAH, and ABDALLAH AL-SHAHRI J Med Genet 1999; 36: 936-937. doi:10.1136/jmg.36.12.936 [Extract] [Full text] [PDF] [Request Permissions]

	Rapid screening for the most common $beta$ thalassaemia mutations in south east Asia by PCR based restriction fragment length polymorphism analysis (PCR-RFLP) PATCHARIN PRAMOONJAGO, ALIDA HARAHAP, RATNA AGUNG TAUFANI, ISWARI SETIANINGSIH, SANGKOT MARZUKI, and ALIDA HARAHAP J Med Genet 1999; 36: 937-938. doi:10.1136/jmg.36.12.937 [Extract] [Full text] [PDF] [Request Permissions]

	Clinical and molecular findings in a patient with a deletion on the long arm of chromosome 12 ANGELA F BRADY, MADIHA M ELSAWI, C RUTH JAMIESON, KAREN MARKS, STEVE JEFFERY, MICHAEL A PATTON, LILY MURTAZA, and MARTIN O SAVAGE J Med Genet 1999; 36: 940-941. doi:10.1136/jmg.36.12.940 [Extract] [Full text] [PDF] [Request Permissions]

	Amelogenesis imperfecta, sensorineural hearing loss, and Beau's lines: a second case report of Heimler's syndrome MARC TISCHKOWITZ, CATHERINE CLENAGHAN, SALLY DAVIES, LINDSAY HUNTER, JOHN POTTS, and SENNO VERHOEF J Med Genet 1999; 36: 942-943. doi:10.1136/jmg.36.12.942 [Extract] [Full text] [PDF] [Request Permissions]

	PTEN and LKB1 genes in laryngeal tumours REN WEI CHEN, EGLE AVIZIENYTE, STINA ROTH, ILMO LEIVO, ANTTI A MÄKITIE, LEENA-MAIJA AALTONEN, and LAURI A AALTONEN J Med Genet 1999; 36: 943-944. doi:10.1136/jmg.36.12.943 [Extract] [Full text] [PDF] [Request Permissions]