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February 1993 (Volume 30, Number 2). [Index by author]

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Abstracts

Medical genetics: advances in brief: The psychological consequences of predictive testing for Huntington's disease
Andrew Norman
J Med Genet 1993; 30: 174. doi:10.1136/jmg.30.2.174 [PDF] [Request Permissions]

Medical genetics: advances in brief
John C K Barber
J Med Genet 1993; 30: 174. doi:10.1136/jmg.30.2.174-a [PDF] [Request Permissions]

Medical genetics: advances in brief: Effects of long-term calcitonin therapy by injection and nasal spray on the incidence of fractures in osteogenesis imperfecta
David Fitzpatrick
J Med Genet 1993; 30: 174. doi:10.1136/jmg.30.2.174-b [PDF] [Request Permissions]

Medical genetics: advances in brief: A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening
Judith Goodship
J Med Genet 1993; 30: 174. doi:10.1136/jmg.30.2.174-c [PDF] [Request Permissions]

Medical genetics: advances in brief: Genetic susceptibility to multiple sclerosis linked to myelin basic protein
W Reardon
J Med Genet 1993; 30: 174. doi:10.1136/jmg.30.2.174-d [PDF] [Request Permissions]

Book Reviews

Microcitemie e Anemia Mediterranea
A Cao
J Med Genet 1993; 30: 176. doi:10.1136/jmg.30.2.176 [PDF] [Request Permissions]

Late Onset Neurometabolic Genetic Disorders
R M Gardiner
J Med Genet 1993; 30: 176. doi:10.1136/jmg.30.2.176-a [PDF] [Request Permissions]

Research Article

The genetics of malignant hyperthermia.
S P Ball and K J Johnson
J Med Genet 1993; 30: 89-93. doi:10.1136/jmg.30.2.89 [Abstract] [PDF] [Request Permissions]

The fragile X syndrome: no evidence for any recent mutations.
A P Smits, J C Dreesen, J G Post, D F Smeets, C de Die-Smulders, T Spaans-van der Bijl, L C Govaerts, S T Warren, B A Oostra, and B A van Oost
J Med Genet 1993; 30: 94-96. doi:10.1136/jmg.30.2.94 [Abstract] [PDF] [Request Permissions]

Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation.
G A Flynn, M C Hirst, S J Knight, J N Macpherson, J C Barber, A V Flannery, K E Davies, and V J Buckle
J Med Genet 1993; 30: 97-100. doi:10.1136/jmg.30.2.97 [Abstract] [PDF] [Request Permissions]

Imprinting in Albright's hereditary osteodystrophy.
S J Davies and H E Hughes
J Med Genet 1993; 30: 101-103. doi:10.1136/jmg.30.2.101 [Abstract] [PDF] [Request Permissions]

Detailed genetic mapping of the von Hippel-Lindau disease tumour suppressor gene.
F M Richards, E R Maher, F Latif, M E Phipps, K Tory, M Lush, P A Crossey, B Oostra, P Enblad, and K H Gustavson
J Med Genet 1993; 30: 104-107. doi:10.1136/jmg.30.2.104 [Abstract] [PDF] [Request Permissions]

Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28.
J R Yates, J P Warner, J A Smith, F Deymeer, J P Azulay, I Hausmanowa-Petrusewicz, J Zaremba, J Borkowska, N A Affara, and M A Ferguson-Smith
J Med Genet 1993; 30: 108-111. doi:10.1136/jmg.30.2.108 [Abstract] [PDF] [Request Permissions]

On the genetics of mandibular prognathism: analysis of large European noble families.
G Wolff, T F Wienker, and H Sander
J Med Genet 1993; 30: 112-116. doi:10.1136/jmg.30.2.112 [Abstract] [PDF] [Request Permissions]

A transthyretin variant (alanine 49) associated with familial amyloidotic polyneuropathy in a French family.
M D Benson, 2nd, J Julien, J Liepnieks, S Zeldenrust, and M D Benson
J Med Genet 1993; 30: 117-119. doi:10.1136/jmg.30.2.117 [Abstract] [PDF] [Request Permissions]

A transthyretin variant (alanine 71) associated with familial amyloidotic polyneuropathy in a French family.
M D Benson, 2nd, J C Turpin, G Lucotte, S Zeldenrust, B LeChevalier, and M D Benson
J Med Genet 1993; 30: 120-122. doi:10.1136/jmg.30.2.120 [Abstract] [PDF] [Request Permissions]

Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.
D L Harmon, D Gardner-Medwin, and J L Stirling
J Med Genet 1993; 30: 123-128. doi:10.1136/jmg.30.2.123 [Abstract] [PDF] [Request Permissions]

Mutation analysis in Turkish phenylketonuria patients.
M Ozgüç, I Ozalp, T Coskun, E Yilmaz, H Erdem, and S Ayter
J Med Genet 1993; 30: 129-130. doi:10.1136/jmg.30.2.129 [Abstract] [PDF] [Request Permissions]

Cosegregation of schizophrenia with Becker muscular dystrophy: susceptibility locus for schizophrenia at Xp21 or an effect of the dystrophin gene in the brain?
M Zatz, H Vallada, M S Melo, M R Passos-Bueno, A H Vieira, M Vainzof, M Gill, and V Gentil
J Med Genet 1993; 30: 131-134. doi:10.1136/jmg.30.2.131 [Abstract] [PDF] [Request Permissions]

A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23.
D Hernandez, C M McConville, M Stacey, C G Woods, M M Brown, P Shutt, G Rysiecki, and A M Taylor
J Med Genet 1993; 30: 135-140. doi:10.1136/jmg.30.2.135 [Abstract] [PDF] [Request Permissions]

Molecular diagnosis of some common genetic diseases in Russia and the former USSR: present and future.
V S Baranov
J Med Genet 1993; 30: 141-146. doi:10.1136/jmg.30.2.141 [Abstract] [PDF] [Request Permissions]

The specialty of clinical genetics: European Society of Human Genetics survey.
R Harris and J A Rhind
J Med Genet 1993; 30: 147-152. doi:10.1136/jmg.30.2.147 [PDF] [Request Permissions]

Rapid and efficient PCR/StyI test for identification of common mutation R408W in phenylketonuria patients.
T Ivaschenko and V S Baranov
J Med Genet 1993; 30: 153-154. doi:10.1136/jmg.30.2.153 [PDF] [Request Permissions]

A lethal skeletal dysplasia with generalised sclerosis and advanced skeletal maturation: Blomstrand chondrodysplasia?
I D Young, J M Zuccollo, and N J Broderick
J Med Genet 1993; 30: 155-157. doi:10.1136/jmg.30.2.155 [Abstract] [PDF] [Request Permissions]

Brachymorphism-onychodysplasia-dysphalangism syndrome.
A Verloes, D Bonneau, O Guidi, M Berthier, D Oriot, L Van Maldergem, and L Koulischer
J Med Genet 1993; 30: 158-161. doi:10.1136/jmg.30.2.158 [Abstract] [PDF] [Request Permissions]

Rapid diagnosis of infantile spinal muscular atrophy by direct amplification of amniocyte and CVS DNA.
A MacKenzie, A Besner, and N Roy
J Med Genet 1993; 30: 162-163. doi:10.1136/jmg.30.2.162 [PDF] [Request Permissions]

Absence of cystic fibrosis mutations in a large Asian population sample and occurrence of a homozygous S549N mutation in an inbred Pakistani family.
A Curtis, R J Richardson, J Boohene, A Jackson, R Nelson, and S S Bhattacharya
J Med Genet 1993; 30: 164-166. doi:10.1136/jmg.30.2.164 [Abstract] [PDF] [Request Permissions]

Complex chromosome rearrangement with ankyloblepharon filiforme adnatum.
B G Kousseff, P Papenhausen, Y P Essig, and M P Torres
J Med Genet 1993; 30: 167-170. doi:10.1136/jmg.30.2.167 [Abstract] [PDF] [Request Permissions]

Chromosome 20 long arm deletion in an elderly malformed man.
F Shabtai, E Ben-Sasson, S Arieli, and J Grinblat
J Med Genet 1993; 30: 171-173. doi:10.1136/jmg.30.2.171 [Abstract] [PDF] [Request Permissions]

Hydrocephalus in Hajdu-Cheney syndrome.
L C Adès, L L Morris, and E A Haan
J Med Genet 1993; 30: 175. doi:10.1136/jmg.30.2.175 [PDF] [Request Permissions]

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	Medical genetics: advances in brief: The psychological consequences of predictive testing for Huntington's disease Andrew Norman J Med Genet 1993; 30: 174. doi:10.1136/jmg.30.2.174 [PDF] [Request Permissions]

	Medical genetics: advances in brief John C K Barber J Med Genet 1993; 30: 174. doi:10.1136/jmg.30.2.174-a [PDF] [Request Permissions]

	Medical genetics: advances in brief: Effects of long-term calcitonin therapy by injection and nasal spray on the incidence of fractures in osteogenesis imperfecta David Fitzpatrick J Med Genet 1993; 30: 174. doi:10.1136/jmg.30.2.174-b [PDF] [Request Permissions]

	Medical genetics: advances in brief: A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening Judith Goodship J Med Genet 1993; 30: 174. doi:10.1136/jmg.30.2.174-c [PDF] [Request Permissions]

	Medical genetics: advances in brief: Genetic susceptibility to multiple sclerosis linked to myelin basic protein W Reardon J Med Genet 1993; 30: 174. doi:10.1136/jmg.30.2.174-d [PDF] [Request Permissions]

	Microcitemie e Anemia Mediterranea A Cao J Med Genet 1993; 30: 176. doi:10.1136/jmg.30.2.176 [PDF] [Request Permissions]

	Late Onset Neurometabolic Genetic Disorders R M Gardiner J Med Genet 1993; 30: 176. doi:10.1136/jmg.30.2.176-a [PDF] [Request Permissions]

	The genetics of malignant hyperthermia. S P Ball and K J Johnson J Med Genet 1993; 30: 89-93. doi:10.1136/jmg.30.2.89 [Abstract] [PDF] [Request Permissions]

	The fragile X syndrome: no evidence for any recent mutations. A P Smits, J C Dreesen, J G Post, D F Smeets, C de Die-Smulders, T Spaans-van der Bijl, L C Govaerts, S T Warren, B A Oostra, and B A van Oost J Med Genet 1993; 30: 94-96. doi:10.1136/jmg.30.2.94 [Abstract] [PDF] [Request Permissions]

	Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation. G A Flynn, M C Hirst, S J Knight, J N Macpherson, J C Barber, A V Flannery, K E Davies, and V J Buckle J Med Genet 1993; 30: 97-100. doi:10.1136/jmg.30.2.97 [Abstract] [PDF] [Request Permissions]

	Imprinting in Albright's hereditary osteodystrophy. S J Davies and H E Hughes J Med Genet 1993; 30: 101-103. doi:10.1136/jmg.30.2.101 [Abstract] [PDF] [Request Permissions]

	Detailed genetic mapping of the von Hippel-Lindau disease tumour suppressor gene. F M Richards, E R Maher, F Latif, M E Phipps, K Tory, M Lush, P A Crossey, B Oostra, P Enblad, and K H Gustavson J Med Genet 1993; 30: 104-107. doi:10.1136/jmg.30.2.104 [Abstract] [PDF] [Request Permissions]

	Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28. J R Yates, J P Warner, J A Smith, F Deymeer, J P Azulay, I Hausmanowa-Petrusewicz, J Zaremba, J Borkowska, N A Affara, and M A Ferguson-Smith J Med Genet 1993; 30: 108-111. doi:10.1136/jmg.30.2.108 [Abstract] [PDF] [Request Permissions]

	On the genetics of mandibular prognathism: analysis of large European noble families. G Wolff, T F Wienker, and H Sander J Med Genet 1993; 30: 112-116. doi:10.1136/jmg.30.2.112 [Abstract] [PDF] [Request Permissions]

	A transthyretin variant (alanine 49) associated with familial amyloidotic polyneuropathy in a French family. M D Benson, 2nd, J Julien, J Liepnieks, S Zeldenrust, and M D Benson J Med Genet 1993; 30: 117-119. doi:10.1136/jmg.30.2.117 [Abstract] [PDF] [Request Permissions]

	A transthyretin variant (alanine 71) associated with familial amyloidotic polyneuropathy in a French family. M D Benson, 2nd, J C Turpin, G Lucotte, S Zeldenrust, B LeChevalier, and M D Benson J Med Genet 1993; 30: 120-122. doi:10.1136/jmg.30.2.120 [Abstract] [PDF] [Request Permissions]

	Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene. D L Harmon, D Gardner-Medwin, and J L Stirling J Med Genet 1993; 30: 123-128. doi:10.1136/jmg.30.2.123 [Abstract] [PDF] [Request Permissions]

	Mutation analysis in Turkish phenylketonuria patients. M Ozgüç, I Ozalp, T Coskun, E Yilmaz, H Erdem, and S Ayter J Med Genet 1993; 30: 129-130. doi:10.1136/jmg.30.2.129 [Abstract] [PDF] [Request Permissions]

	Cosegregation of schizophrenia with Becker muscular dystrophy: susceptibility locus for schizophrenia at Xp21 or an effect of the dystrophin gene in the brain? M Zatz, H Vallada, M S Melo, M R Passos-Bueno, A H Vieira, M Vainzof, M Gill, and V Gentil J Med Genet 1993; 30: 131-134. doi:10.1136/jmg.30.2.131 [Abstract] [PDF] [Request Permissions]

	A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23. D Hernandez, C M McConville, M Stacey, C G Woods, M M Brown, P Shutt, G Rysiecki, and A M Taylor J Med Genet 1993; 30: 135-140. doi:10.1136/jmg.30.2.135 [Abstract] [PDF] [Request Permissions]

	Molecular diagnosis of some common genetic diseases in Russia and the former USSR: present and future. V S Baranov J Med Genet 1993; 30: 141-146. doi:10.1136/jmg.30.2.141 [Abstract] [PDF] [Request Permissions]

	The specialty of clinical genetics: European Society of Human Genetics survey. R Harris and J A Rhind J Med Genet 1993; 30: 147-152. doi:10.1136/jmg.30.2.147 [PDF] [Request Permissions]

	Rapid and efficient PCR/StyI test for identification of common mutation R408W in phenylketonuria patients. T Ivaschenko and V S Baranov J Med Genet 1993; 30: 153-154. doi:10.1136/jmg.30.2.153 [PDF] [Request Permissions]

	A lethal skeletal dysplasia with generalised sclerosis and advanced skeletal maturation: Blomstrand chondrodysplasia? I D Young, J M Zuccollo, and N J Broderick J Med Genet 1993; 30: 155-157. doi:10.1136/jmg.30.2.155 [Abstract] [PDF] [Request Permissions]

	Brachymorphism-onychodysplasia-dysphalangism syndrome. A Verloes, D Bonneau, O Guidi, M Berthier, D Oriot, L Van Maldergem, and L Koulischer J Med Genet 1993; 30: 158-161. doi:10.1136/jmg.30.2.158 [Abstract] [PDF] [Request Permissions]

	Rapid diagnosis of infantile spinal muscular atrophy by direct amplification of amniocyte and CVS DNA. A MacKenzie, A Besner, and N Roy J Med Genet 1993; 30: 162-163. doi:10.1136/jmg.30.2.162 [PDF] [Request Permissions]

	Absence of cystic fibrosis mutations in a large Asian population sample and occurrence of a homozygous S549N mutation in an inbred Pakistani family. A Curtis, R J Richardson, J Boohene, A Jackson, R Nelson, and S S Bhattacharya J Med Genet 1993; 30: 164-166. doi:10.1136/jmg.30.2.164 [Abstract] [PDF] [Request Permissions]

	Complex chromosome rearrangement with ankyloblepharon filiforme adnatum. B G Kousseff, P Papenhausen, Y P Essig, and M P Torres J Med Genet 1993; 30: 167-170. doi:10.1136/jmg.30.2.167 [Abstract] [PDF] [Request Permissions]

	Chromosome 20 long arm deletion in an elderly malformed man. F Shabtai, E Ben-Sasson, S Arieli, and J Grinblat J Med Genet 1993; 30: 171-173. doi:10.1136/jmg.30.2.171 [Abstract] [PDF] [Request Permissions]

	Hydrocephalus in Hajdu-Cheney syndrome. L C Adès, L L Morris, and E A Haan J Med Genet 1993; 30: 175. doi:10.1136/jmg.30.2.175 [PDF] [Request Permissions]