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February 1999 (Volume 36, Number 2). [Index by author]

		Review articles Original articles Short reports Letters to the editor

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Review articles

Townes-Brocks syndrome
Cynthia M Powell and Ron C Michaelis
J Med Genet 1999; 36: 89-93. doi:10.1136/jmg.36.2.89 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

Polymorphisms in PTEN in breast cancer families
Bryan T Carroll, Fergus J Couch, Timothy R Rebbeck, and Barbara L Weber
J Med Genet 1999; 36: 94-96. doi:10.1136/jmg.36.2.94 [Abstract] [Full text] [PDF] [Request Permissions]

A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer
Nicola J Froggatt, Jane Green, Cecilia Brassett, D Gareth R Evans, D Timothy Bishop, Richard Kolodner, and Eamonn R Maher
J Med Genet 1999; 36: 97-102. doi:10.1136/jmg.36.2.97 [Abstract] [Full text] [PDF] [Request Permissions]

Breast cancer incidence and familiality in Iceland during 75 years from 1921 to 1995
Hrafn Tulinius, Helgi Sigvaldason, Laufey Tryggvadóttir, and Kristín Bjarnadóttir
J Med Genet 1999; 36: 103-107. doi:10.1136/jmg.36.2.103 [Abstract] [Full text] [PDF] [Request Permissions]

Age of onset in Huntington disease: sex specific influence of apolipoprotein E genotype and normal CAG repeat length
Patrick Kehoe, Michael Krawczak, Peter S Harper, Michael J Owen, and A Lesley Jones
J Med Genet 1999; 36: 108-111. doi:10.1136/jmg.36.2.108 [Abstract] [Full text] [PDF] [Request Permissions]

Analysis of spinocerebellar ataxia type 2 gene and haplotype analysis: (CCG)_{1- 2} polymorphism and contribution to founder effect
Kazuyuki Mizushima, Mitsunori Watanabe, Ikuko Kondo, Koichi Okamoto, Masami Shizuka, Koji Abe, Masashi Aoki, and Mikio Shoji
J Med Genet 1999; 36: 112-114. doi:10.1136/jmg.36.2.112 [Abstract] [Full text] [PDF] [Request Permissions]

Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families
Virginia Barone, Ornella Massa, Elena Intravaia, Adele Bracco, Antonella Di Martino, Vincenzo Tegazzin, Santolo Cozzolino, and Vincenzo Sorrentino
J Med Genet 1999; 36: 115-118. doi:10.1136/jmg.36.2.115 [Abstract] [Full text] [PDF] [Request Permissions]

Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis
Majlinda Lako, Simon Ramsden, R Duncan Campbell, and Tom Strachan
J Med Genet 1999; 36: 119-124. doi:10.1136/jmg.36.2.119 [Abstract] [Full text] [PDF] [Request Permissions]

Variations in genetic assessment and recurrence risks quoted for childhood deafness: a survey of clinical geneticists
M J Parker, H Fortnum, I D Young, and A C Davis
J Med Genet 1999; 36: 125-130. doi:10.1136/jmg.36.2.125 [Abstract] [Full text] [PDF] [Request Permissions]

A new lethal syndrome of exomphalos, short limbs, and macrogonadism
Laurence Faivre, Anne-Lise Delezoide, Françoise Narcy, Féréchté Razavi, Raymonde Bouvier, Valérie Cormier-Daire, Marie-Louise Briard, Stanislas Lyonnet, Michel Vekemans, Arnold Munnich, and Martine Le Merrer
J Med Genet 1999; 36: 131-136. doi:10.1136/jmg.36.2.131 [Abstract] [Full text] [PDF] [Request Permissions]

Microdeletion 22q11 and oesophageal atresia
Maria Cristina Digilio, Bruno Marino, Pietro Bagolan, Aldo Giannotti, and Bruno Dallapiccola
J Med Genet 1999; 36: 137-139. doi:10.1136/jmg.36.2.137 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region
Ben C J Hamel, Pieter Wesseling, Willy O Renier, Bellinda van den Helm, Hans-Hilger Ropers, Hannie Kremer, and Edwin C M Mariman
J Med Genet 1999; 36: 140-143. doi:10.1136/jmg.36.2.140 [Abstract] [Full text] [PDF] [Request Permissions]

Homozygosity mapping to the USH2A locus in two isolated populations
T Fagerheim, P Raeymaekers, J Merren, K Mani, G K Jha, L Baumbach, V Brox, E Breines, B E Holdø, A Holdø, and L Tranebjærg
J Med Genet 1999; 36: 144-147. doi:10.1136/jmg.36.2.144 [Abstract] [Full text] [PDF] [Request Permissions]

Genetics of the SCA6 gene in a large family segregating an autosomal dominant "pure" cerebellar ataxia
Javier García-Planells, Ana Cuesta, Juan J Vílchez, Francisco Martínez, Félix Prieto, and Francesc Palau
J Med Genet 1999; 36: 148-151. doi:10.1136/jmg.36.2.148 [Abstract] [Full text] [PDF] [Request Permissions]

A mutation in the RIEG1 gene associated with Peters' anomaly
W Doward, R Perveen, I C Lloyd, A E A Ridgway, L Wilson, and G C M Black
J Med Genet 1999; 36: 152-155. doi:10.1136/jmg.36.2.152 [Abstract] [Full text] [PDF] [Request Permissions]

Insulin dependent diabetes mellitus (IDDM) and autoimmune thyroiditis in a boy with a ring chromosome 18: additional evidence of autoimmunity or IDDM gene(s) on chromosome 18
C Dacou-Voutetakis, A Sertedaki, M Maniatis-Christidis, C Sarri, G Karadima, M B Petersen, A Xaidara, M Kanariou, and P Nicolaidou
J Med Genet 1999; 36: 156-158. doi:10.1136/jmg.36.2.156 [Abstract] [Full text] [PDF] [Request Permissions]

Ataxia, ocular telangiectasia, chromosome instability, and Langerhans cell histiocytosis in a patient with an unknown breakage syndrome
M Di Rocco, A Arslanian, M Romanengo, F Dagna-Bricarelli, and C Borrone
J Med Genet 1999; 36: 159-160. doi:10.1136/jmg.36.2.159 [Abstract] [Full text] [PDF] [Request Permissions]

Absent pituitary gland and hypoplasia of the cerebellar vermis associated with partial ophthalmoplegia and postaxial polydactyly: a variant of orofaciodigital syndrome VI or a new syndrome?
L I Al-Gazali, L Sztriha, J Punnose, W Shather, and M Nork
J Med Genet 1999; 36: 161-166. doi:10.1136/jmg.36.2.161 [Abstract] [Full text] [PDF] [Request Permissions]

Dilemmas in counselling females with the fragile X syndrome
Bert B A de Vries, Hanneke M A van den Boer-van den Berg, Martinus F Niermeijer, and Aad Tibben
J Med Genet 1999; 36: 167-170. doi:10.1136/jmg.36.2.167 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to the editor

Fragile X syndrome: of POF and premutations • Author's reply
JAMES MACPHERSON, ANNA MURRAY, JIM WEBB, PATRICIA JACOBS;, BERT B A DE VRIES, DICKY J J HALLEY, BEN A OOSTRA, and MARTINUS F NIERMEIJER
J Med Genet 1999; 36: 171-172. doi:10.1136/jmg.36.2.171 [Extract] [Full text] [Request Permissions]

Homozygosity in Huntington's disease
ALEXANDRA DÜRR, VALÉRIE HAHN-BARMA, ALEXIS BRICE, CHRISTOPHE PÊCHEUX, CATHERINE DODÉ, and JOSUÉ FEINGOLD
J Med Genet 1999; 36: 172-173. doi:10.1136/jmg.36.2.172 [Extract] [Full text] [Request Permissions]

The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease
IRINA A IVANOVA-SMOLENSKAYA, IGOR V OVCHINNIKOV, ALEXEY V KARABANOV, NATALYA L DEINEKO, VSEVOLOD V POLESHCHUK, ELENA D MARKOVA, and SERGEI N ILLARIOSHKIN
J Med Genet 1999; 36: 174. doi:10.1136/jmg.36.2.174 [Extract] [Full text] [Request Permissions]

Severe complications and gastric carcinoma in Mulvihill-Smith syndrome
OLIVER BARTSCH, DIETHER LUDWIG, EBERHARD SCHWINGER, and KLAUS-DIETER TYMPNER
J Med Genet 1999; 36: 175. doi:10.1136/jmg.36.2.175 [Extract] [Full text] [Request Permissions]

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	Townes-Brocks syndrome Cynthia M Powell and Ron C Michaelis J Med Genet 1999; 36: 89-93. doi:10.1136/jmg.36.2.89 [Abstract] [Full text] [PDF] [Request Permissions]

	Polymorphisms in PTEN in breast cancer families Bryan T Carroll, Fergus J Couch, Timothy R Rebbeck, and Barbara L Weber J Med Genet 1999; 36: 94-96. doi:10.1136/jmg.36.2.94 [Abstract] [Full text] [PDF] [Request Permissions]

	A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer Nicola J Froggatt, Jane Green, Cecilia Brassett, D Gareth R Evans, D Timothy Bishop, Richard Kolodner, and Eamonn R Maher J Med Genet 1999; 36: 97-102. doi:10.1136/jmg.36.2.97 [Abstract] [Full text] [PDF] [Request Permissions]

	Breast cancer incidence and familiality in Iceland during 75 years from 1921 to 1995 Hrafn Tulinius, Helgi Sigvaldason, Laufey Tryggvadóttir, and Kristín Bjarnadóttir J Med Genet 1999; 36: 103-107. doi:10.1136/jmg.36.2.103 [Abstract] [Full text] [PDF] [Request Permissions]

	Age of onset in Huntington disease: sex specific influence of apolipoprotein E genotype and normal CAG repeat length Patrick Kehoe, Michael Krawczak, Peter S Harper, Michael J Owen, and A Lesley Jones J Med Genet 1999; 36: 108-111. doi:10.1136/jmg.36.2.108 [Abstract] [Full text] [PDF] [Request Permissions]

	Analysis of spinocerebellar ataxia type 2 gene and haplotype analysis: (CCG)_{1- 2} polymorphism and contribution to founder effect Kazuyuki Mizushima, Mitsunori Watanabe, Ikuko Kondo, Koichi Okamoto, Masami Shizuka, Koji Abe, Masashi Aoki, and Mikio Shoji J Med Genet 1999; 36: 112-114. doi:10.1136/jmg.36.2.112 [Abstract] [Full text] [PDF] [Request Permissions]

	Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families Virginia Barone, Ornella Massa, Elena Intravaia, Adele Bracco, Antonella Di Martino, Vincenzo Tegazzin, Santolo Cozzolino, and Vincenzo Sorrentino J Med Genet 1999; 36: 115-118. doi:10.1136/jmg.36.2.115 [Abstract] [Full text] [PDF] [Request Permissions]

	Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis Majlinda Lako, Simon Ramsden, R Duncan Campbell, and Tom Strachan J Med Genet 1999; 36: 119-124. doi:10.1136/jmg.36.2.119 [Abstract] [Full text] [PDF] [Request Permissions]

	Variations in genetic assessment and recurrence risks quoted for childhood deafness: a survey of clinical geneticists M J Parker, H Fortnum, I D Young, and A C Davis J Med Genet 1999; 36: 125-130. doi:10.1136/jmg.36.2.125 [Abstract] [Full text] [PDF] [Request Permissions]

	A new lethal syndrome of exomphalos, short limbs, and macrogonadism Laurence Faivre, Anne-Lise Delezoide, Françoise Narcy, Féréchté Razavi, Raymonde Bouvier, Valérie Cormier-Daire, Marie-Louise Briard, Stanislas Lyonnet, Michel Vekemans, Arnold Munnich, and Martine Le Merrer J Med Genet 1999; 36: 131-136. doi:10.1136/jmg.36.2.131 [Abstract] [Full text] [PDF] [Request Permissions]

	Microdeletion 22q11 and oesophageal atresia Maria Cristina Digilio, Bruno Marino, Pietro Bagolan, Aldo Giannotti, and Bruno Dallapiccola J Med Genet 1999; 36: 137-139. doi:10.1136/jmg.36.2.137 [Abstract] [Full text] [PDF] [Request Permissions]

	A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region Ben C J Hamel, Pieter Wesseling, Willy O Renier, Bellinda van den Helm, Hans-Hilger Ropers, Hannie Kremer, and Edwin C M Mariman J Med Genet 1999; 36: 140-143. doi:10.1136/jmg.36.2.140 [Abstract] [Full text] [PDF] [Request Permissions]

	Homozygosity mapping to the USH2A locus in two isolated populations T Fagerheim, P Raeymaekers, J Merren, K Mani, G K Jha, L Baumbach, V Brox, E Breines, B E Holdø, A Holdø, and L Tranebjærg J Med Genet 1999; 36: 144-147. doi:10.1136/jmg.36.2.144 [Abstract] [Full text] [PDF] [Request Permissions]

	Genetics of the SCA6 gene in a large family segregating an autosomal dominant "pure" cerebellar ataxia Javier García-Planells, Ana Cuesta, Juan J Vílchez, Francisco Martínez, Félix Prieto, and Francesc Palau J Med Genet 1999; 36: 148-151. doi:10.1136/jmg.36.2.148 [Abstract] [Full text] [PDF] [Request Permissions]

	A mutation in the RIEG1 gene associated with Peters' anomaly W Doward, R Perveen, I C Lloyd, A E A Ridgway, L Wilson, and G C M Black J Med Genet 1999; 36: 152-155. doi:10.1136/jmg.36.2.152 [Abstract] [Full text] [PDF] [Request Permissions]

	Insulin dependent diabetes mellitus (IDDM) and autoimmune thyroiditis in a boy with a ring chromosome 18: additional evidence of autoimmunity or IDDM gene(s) on chromosome 18 C Dacou-Voutetakis, A Sertedaki, M Maniatis-Christidis, C Sarri, G Karadima, M B Petersen, A Xaidara, M Kanariou, and P Nicolaidou J Med Genet 1999; 36: 156-158. doi:10.1136/jmg.36.2.156 [Abstract] [Full text] [PDF] [Request Permissions]

	Ataxia, ocular telangiectasia, chromosome instability, and Langerhans cell histiocytosis in a patient with an unknown breakage syndrome M Di Rocco, A Arslanian, M Romanengo, F Dagna-Bricarelli, and C Borrone J Med Genet 1999; 36: 159-160. doi:10.1136/jmg.36.2.159 [Abstract] [Full text] [PDF] [Request Permissions]

	Absent pituitary gland and hypoplasia of the cerebellar vermis associated with partial ophthalmoplegia and postaxial polydactyly: a variant of orofaciodigital syndrome VI or a new syndrome? L I Al-Gazali, L Sztriha, J Punnose, W Shather, and M Nork J Med Genet 1999; 36: 161-166. doi:10.1136/jmg.36.2.161 [Abstract] [Full text] [PDF] [Request Permissions]

	Dilemmas in counselling females with the fragile X syndrome Bert B A de Vries, Hanneke M A van den Boer-van den Berg, Martinus F Niermeijer, and Aad Tibben J Med Genet 1999; 36: 167-170. doi:10.1136/jmg.36.2.167 [Abstract] [Full text] [PDF] [Request Permissions]

	Fragile X syndrome: of POF and premutations • Author's reply JAMES MACPHERSON, ANNA MURRAY, JIM WEBB, PATRICIA JACOBS;, BERT B A DE VRIES, DICKY J J HALLEY, BEN A OOSTRA, and MARTINUS F NIERMEIJER J Med Genet 1999; 36: 171-172. doi:10.1136/jmg.36.2.171 [Extract] [Full text] [Request Permissions]

	Homozygosity in Huntington's disease ALEXANDRA DÜRR, VALÉRIE HAHN-BARMA, ALEXIS BRICE, CHRISTOPHE PÊCHEUX, CATHERINE DODÉ, and JOSUÉ FEINGOLD J Med Genet 1999; 36: 172-173. doi:10.1136/jmg.36.2.172 [Extract] [Full text] [Request Permissions]

	The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease IRINA A IVANOVA-SMOLENSKAYA, IGOR V OVCHINNIKOV, ALEXEY V KARABANOV, NATALYA L DEINEKO, VSEVOLOD V POLESHCHUK, ELENA D MARKOVA, and SERGEI N ILLARIOSHKIN J Med Genet 1999; 36: 174. doi:10.1136/jmg.36.2.174 [Extract] [Full text] [Request Permissions]

	Severe complications and gastric carcinoma in Mulvihill-Smith syndrome OLIVER BARTSCH, DIETHER LUDWIG, EBERHARD SCHWINGER, and KLAUS-DIETER TYMPNER J Med Genet 1999; 36: 175. doi:10.1136/jmg.36.2.175 [Extract] [Full text] [Request Permissions]