J Med Genet -- Table of Contents (37 [2])

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February 2000 (Volume 37, Number 2). [Index by author]

		Review articles Commentaries Original articles Short reports Perspectives Letters to the editor

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Review articles

Genetic susceptibility to age related macular degeneration
John R W Yates and Anthony T Moore
J Med Genet 2000; 37: 83-87. doi:10.1136/jmg.37.2.83 [Abstract] [Full text] [PDF] [Request Permissions]

Commentaries

Of palms, soles, and gums
ROBERT J GORLIN
J Med Genet 2000; 37: 81-82. doi:10.1136/jmg.37.2.81 [Extract] [Full text] [PDF] [Request Permissions]

Original articles

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, and W A Soskolne
J Med Genet 2000; 37: 88-94. doi:10.1136/jmg.37.2.88 [Abstract] [Full text] [PDF] [Request Permissions]

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, and S Walker
J Med Genet 2000; 37: 95-101. doi:10.1136/jmg.37.2.95 [Abstract] [Full text] [PDF] [Request Permissions]

Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by $beta$ sarcoglycan mutations
Rita Barresi, Claudia Di Blasi, Tiziana Negri, Raffaella Brugnoni, Andrea Vitali, Giorgio Felisari, Antonio Salandi, Sergio Daniel, Ferdinando Cornelio, Lucia Morandi, and Marina Mora
J Med Genet 2000; 37: 102-107. doi:10.1136/jmg.37.2.102 [Abstract] [Full text] [PDF] [Request Permissions]

Evaluation of a counselling protocol for predictive genetic testing for hereditary non-polyposis colorectal cancer
Katja Aktan-Collan, Jukka-Pekka Mecklin, Albert de la Chapelle, Päivi Peltomäki, Antti Uutela, and Helena Kääriäinen
J Med Genet 2000; 37: 108-113. doi:10.1136/jmg.37.2.108 [Abstract] [Full text] [PDF] [Request Permissions]

Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH
Pawel Stankiewicz, Ewa Bocian, Krystyna Jakubów-Durska, Ewa Obersztyn, Ewa Lato, Heike Starke, Katarzyna Mroczek, and Tadeusz Mazurczak
J Med Genet 2000; 37: 114-120. doi:10.1136/jmg.37.2.114 [Abstract] [Full text] [PDF] [Request Permissions]

A supernumerary marker chromosome originating from two different regions of chromosome 18
Benno Röthlisberger, Krystyna Chrzanowska, Damina Balmer, Mariluce Riegel, and Albert Schinzel
J Med Genet 2000; 37: 121-124. doi:10.1136/jmg.37.2.121 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

5p14 deletion associated with microcephaly and seizures
Elizabeth I Johnson, R Catrinel Marinescu, Hope H Punnett, Beverly Tenenholz, and Joan Overhauser
J Med Genet 2000; 37: 125-127. doi:10.1136/jmg.37.2.125 [Abstract] [Full text] [PDF] [Request Permissions]

A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome
Dmitry Tentler, Peter Gustavsson, Göran Elinder, Ole Eklöf, Laurie Gordon, Ariane Mandel, and Niklas Dahl
J Med Genet 2000; 37: 128-131. doi:10.1136/jmg.37.2.128 [Abstract] [Full text] [PDF] [Request Permissions]

First description of germline mosaicism in familial hypertrophic cardiomyopathy
Jean-François Forissier, Pascale Richard, Sylvain Briault, Céline Ledeuil, Olivier Dubourg, Bernard Charbonnier, Lucie Carrier, Claude Moraine, Gisèle Bonne, Michel Komajda, Ketty Schwartz, and Bernard Hainque
J Med Genet 2000; 37: 132-134. doi:10.1136/jmg.37.2.132 [Abstract] [Full text] [PDF] [Request Permissions]

Perspectives

Shared decision making and non-directiveness in genetic counselling
Glyn Elwyn, Jonathon Gray, and Angus Clarke
J Med Genet 2000; 37: 135-138. doi:10.1136/jmg.37.2.135 [Extract] [Full text] [PDF] [Request Permissions]

Letters to the editor

The CAG repeat within the androgen receptor gene in male breast cancer patients
I E YOUNG, K M KURIAN, M A F MACKENZIE, I H KUNKLER, B B COHEN, M L HOOPER, A H WYLLIE, and C M STEEL
J Med Genet 2000; 37: 139-140. doi:10.1136/jmg.37.2.139 [Extract] [Full text] [PDF] [Request Permissions]

Deletion and duplication of the adenomatous polyposis coli gene resulting from an interchromosomal insertion involving 5(q22q23.3) in the father
R J HASTINGS, E C SVENNEVIK, B SETTERFIELD, D WELLS, J D A DELHANTY, and H MACKINNON
J Med Genet 2000; 37: 141-145. doi:10.1136/jmg.37.2.141 [Extract] [Full text] [PDF] [Request Permissions]

Hypoparathyroidism, retarded growth and development, and dysmorphism or Sanjad-Sakati syndrome: an Arab disease reminiscent of Kenny-Caffey syndrome
AHMAD S TEEBI
J Med Genet 2000; 37: 145. doi:10.1136/jmg.37.2.145 [Extract] [Full text] [PDF] [Request Permissions]

Tandem duplication within the neurofibromatosis type 1 gene (NF1) and reciprocal t(15;16)(q26.3;q12.1) translocation in familial association of NF1 with intestinal neuronal dysplasia type B (IND B)
MICHEL BAHUAU, INGRID LAURENDEAU, ANNA PELET, BRIGITTE ASSOULINE, THIERRY LAMIREAU, LAURENCE TAINE, BRIGITTE LE BAIL, PIERRE VERGNES, SERGE GALLET, MICHEL VIDAUD, STANISLAS LYONNET, DIDIER LACOMBE, and DOMINIQUE VIDAUD
J Med Genet 2000; 37: 146-150. doi:10.1136/jmg.37.2.146 [Extract] [Full text] [PDF] [Request Permissions]

Identification of novel alleles at a polymorphic microsatellite repeat region in the human NRAMP1 gene promoter: analysis of allele frequencies in primary biliary cirrhosis
A M GRAHAM, M M DOLLINGER, S E M HOWIE, and D J HARRISON
J Med Genet 2000; 37: 150-152. doi:10.1136/jmg.37.2.150 [Extract] [Full text] [PDF] [Request Permissions]

No evidence for imprinting in distal 18q
ROBERT MAIWALD, JOAN OVERHAUSER, and FRANCO LACCONE
J Med Genet 2000; 37: 152-156. doi:10.1136/jmg.37.2.152 [Extract] [Full text] [PDF] [Request Permissions]

Renal angiomyolipomata and learning difficulty in tuberous sclerosis complex
FINBAR J K O'CALLAGHAN, MICHAEL NOAKES, and JOHN P OSBORNE
J Med Genet 2000; 37: 156-157. doi:10.1136/jmg.37.2.156 [Extract] [Full text] [PDF] [Request Permissions]

Clinical geneticists' attitudes and practice towards testing for breast cancer susceptibility genes
ANNEKE M LUCASSEN and RICHARD S HOULSTON
J Med Genet 2000; 37: 157-160. doi:10.1136/jmg.37.2.157 [Extract] [Full text] [PDF] [Request Permissions]

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	Genetic susceptibility to age related macular degeneration John R W Yates and Anthony T Moore J Med Genet 2000; 37: 83-87. doi:10.1136/jmg.37.2.83 [Abstract] [Full text] [PDF] [Request Permissions]

	Of palms, soles, and gums ROBERT J GORLIN J Med Genet 2000; 37: 81-82. doi:10.1136/jmg.37.2.81 [Extract] [Full text] [PDF] [Request Permissions]

	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, and W A Soskolne J Med Genet 2000; 37: 88-94. doi:10.1136/jmg.37.2.88 [Abstract] [Full text] [PDF] [Request Permissions]

	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, and S Walker J Med Genet 2000; 37: 95-101. doi:10.1136/jmg.37.2.95 [Abstract] [Full text] [PDF] [Request Permissions]

	Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by $beta$ sarcoglycan mutations Rita Barresi, Claudia Di Blasi, Tiziana Negri, Raffaella Brugnoni, Andrea Vitali, Giorgio Felisari, Antonio Salandi, Sergio Daniel, Ferdinando Cornelio, Lucia Morandi, and Marina Mora J Med Genet 2000; 37: 102-107. doi:10.1136/jmg.37.2.102 [Abstract] [Full text] [PDF] [Request Permissions]

	Evaluation of a counselling protocol for predictive genetic testing for hereditary non-polyposis colorectal cancer Katja Aktan-Collan, Jukka-Pekka Mecklin, Albert de la Chapelle, Päivi Peltomäki, Antti Uutela, and Helena Kääriäinen J Med Genet 2000; 37: 108-113. doi:10.1136/jmg.37.2.108 [Abstract] [Full text] [PDF] [Request Permissions]

	Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH Pawel Stankiewicz, Ewa Bocian, Krystyna Jakubów-Durska, Ewa Obersztyn, Ewa Lato, Heike Starke, Katarzyna Mroczek, and Tadeusz Mazurczak J Med Genet 2000; 37: 114-120. doi:10.1136/jmg.37.2.114 [Abstract] [Full text] [PDF] [Request Permissions]

	A supernumerary marker chromosome originating from two different regions of chromosome 18 Benno Röthlisberger, Krystyna Chrzanowska, Damina Balmer, Mariluce Riegel, and Albert Schinzel J Med Genet 2000; 37: 121-124. doi:10.1136/jmg.37.2.121 [Abstract] [Full text] [PDF] [Request Permissions]

	5p14 deletion associated with microcephaly and seizures Elizabeth I Johnson, R Catrinel Marinescu, Hope H Punnett, Beverly Tenenholz, and Joan Overhauser J Med Genet 2000; 37: 125-127. doi:10.1136/jmg.37.2.125 [Abstract] [Full text] [PDF] [Request Permissions]

	A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome Dmitry Tentler, Peter Gustavsson, Göran Elinder, Ole Eklöf, Laurie Gordon, Ariane Mandel, and Niklas Dahl J Med Genet 2000; 37: 128-131. doi:10.1136/jmg.37.2.128 [Abstract] [Full text] [PDF] [Request Permissions]

	First description of germline mosaicism in familial hypertrophic cardiomyopathy Jean-François Forissier, Pascale Richard, Sylvain Briault, Céline Ledeuil, Olivier Dubourg, Bernard Charbonnier, Lucie Carrier, Claude Moraine, Gisèle Bonne, Michel Komajda, Ketty Schwartz, and Bernard Hainque J Med Genet 2000; 37: 132-134. doi:10.1136/jmg.37.2.132 [Abstract] [Full text] [PDF] [Request Permissions]

	Shared decision making and non-directiveness in genetic counselling Glyn Elwyn, Jonathon Gray, and Angus Clarke J Med Genet 2000; 37: 135-138. doi:10.1136/jmg.37.2.135 [Extract] [Full text] [PDF] [Request Permissions]

	The CAG repeat within the androgen receptor gene in male breast cancer patients I E YOUNG, K M KURIAN, M A F MACKENZIE, I H KUNKLER, B B COHEN, M L HOOPER, A H WYLLIE, and C M STEEL J Med Genet 2000; 37: 139-140. doi:10.1136/jmg.37.2.139 [Extract] [Full text] [PDF] [Request Permissions]

	Deletion and duplication of the adenomatous polyposis coli gene resulting from an interchromosomal insertion involving 5(q22q23.3) in the father R J HASTINGS, E C SVENNEVIK, B SETTERFIELD, D WELLS, J D A DELHANTY, and H MACKINNON J Med Genet 2000; 37: 141-145. doi:10.1136/jmg.37.2.141 [Extract] [Full text] [PDF] [Request Permissions]

	Hypoparathyroidism, retarded growth and development, and dysmorphism or Sanjad-Sakati syndrome: an Arab disease reminiscent of Kenny-Caffey syndrome AHMAD S TEEBI J Med Genet 2000; 37: 145. doi:10.1136/jmg.37.2.145 [Extract] [Full text] [PDF] [Request Permissions]

	Tandem duplication within the neurofibromatosis type 1 gene (NF1) and reciprocal t(15;16)(q26.3;q12.1) translocation in familial association of NF1 with intestinal neuronal dysplasia type B (IND B) MICHEL BAHUAU, INGRID LAURENDEAU, ANNA PELET, BRIGITTE ASSOULINE, THIERRY LAMIREAU, LAURENCE TAINE, BRIGITTE LE BAIL, PIERRE VERGNES, SERGE GALLET, MICHEL VIDAUD, STANISLAS LYONNET, DIDIER LACOMBE, and DOMINIQUE VIDAUD J Med Genet 2000; 37: 146-150. doi:10.1136/jmg.37.2.146 [Extract] [Full text] [PDF] [Request Permissions]

	*Identification of novel alleles at a polymorphic microsatellite repeat region in the human NRAMP1* gene promoter: analysis of allele frequencies in primary biliary cirrhosis** A M GRAHAM, M M DOLLINGER, S E M HOWIE, and D J HARRISON J Med Genet 2000; 37: 150-152. doi:10.1136/jmg.37.2.150 [Extract] [Full text] [PDF] [Request Permissions]

	No evidence for imprinting in distal 18q ROBERT MAIWALD, JOAN OVERHAUSER, and FRANCO LACCONE J Med Genet 2000; 37: 152-156. doi:10.1136/jmg.37.2.152 [Extract] [Full text] [PDF] [Request Permissions]

	Renal angiomyolipomata and learning difficulty in tuberous sclerosis complex FINBAR J K O'CALLAGHAN, MICHAEL NOAKES, and JOHN P OSBORNE J Med Genet 2000; 37: 156-157. doi:10.1136/jmg.37.2.156 [Extract] [Full text] [PDF] [Request Permissions]

	Clinical geneticists' attitudes and practice towards testing for breast cancer susceptibility genes ANNEKE M LUCASSEN and RICHARD S HOULSTON J Med Genet 2000; 37: 157-160. doi:10.1136/jmg.37.2.157 [Extract] [Full text] [PDF] [Request Permissions]