J Med Genet -- Table of Contents (31 [3])

Subscribe here
Activate your subscription

Home > Volume 31, Number 3

Only Abstracts and PDFs available for this issue

Other Issues:
March 1994 (Volume 31, Number 3). [Index by author]

		Abstracts Book Reviews Research Article

Find articles in this issue containing these words: [Search ALL Issues]

Table of Contents (PDF) | Advertising (PDF) | Cover (PDF) | Administration (PDF)

To see an article, click its [Full Text] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstracts' button. To see one abstract at a time, click its [Abstract] link.

Abstracts

Medical genetics: advances in brief: Editorial: our educational challenge
Frances Flinter
J Med Genet 1994; 31: 259. doi:10.1136/jmg.31.3.259 [PDF] [Request Permissions]

Medical genetics: advances in brief: Replication structure of the human β-globin gene domain
Andrew Wilkie
J Med Genet 1994; 31: 259. doi:10.1136/jmg.31.3.259-a [PDF] [Request Permissions]

Medical genetics: advances in brief: Diagnosis of human genetic disease using recombinant DNA; fourth edition
John C K Barber
J Med Genet 1994; 31: 259. doi:10.1136/jmg.31.3.259-b [PDF] [Request Permissions]

Medical genetics: advances in brief: Denys-Drash syndrome: relating a clinical disorder to genetic alterations in the tumor-suppressor gene WT1
Jill Clayton-Smith
J Med Genet 1994; 31: 259. doi:10.1136/jmg.31.3.259-c [PDF] [Request Permissions]

Book Reviews

Advances in Human Genetics
Andrew P Read
J Med Genet 1994; 31: 262. doi:10.1136/jmg.31.3.262 [PDF] [Request Permissions]

Human Gene Mutation
J H Edwards
J Med Genet 1994; 31: 262-263. doi:10.1136/jmg.31.3.262-a [PDF] [Request Permissions]

Book reviews
I D Young
J Med Genet 1994; 31: 263. doi:10.1136/jmg.31.3.263 [PDF] [Request Permissions]

Essential Medical Genetics
Angus Clarke
J Med Genet 1994; 31: 263. doi:10.1136/jmg.31.3.263-a [PDF] [Request Permissions]

Heredity and Your Family's Health
Hilary J Harris
J Med Genet 1994; 31: 263-264. doi:10.1136/jmg.31.3.263-b [PDF] [Request Permissions]

Research Article

Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration.
A Hirvasniemi, H Lang, A E Lehesjoki, and J Leisti
J Med Genet 1994; 31: 177-182. doi:10.1136/jmg.31.3.177 [Abstract] [PDF] [Request Permissions]

On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis.
T Grimm, G Meng, S Liechti-Gallati, T Bettecken, C R Müller, and B Müller
J Med Genet 1994; 31: 183-186. doi:10.1136/jmg.31.3.183 [Abstract] [PDF] [Request Permissions]

Genetic study of indirect inguinal hernia.
Y Gong, C Shao, Q Sun, B Chen, Y Jiang, C Guo, J Wei, and Y Guo
J Med Genet 1994; 31: 187-192. doi:10.1136/jmg.31.3.187 [Abstract] [PDF] [Request Permissions]

X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms.
S Cochrane, J Bergoffen, N D Fairweather, E Müller, M L Mostacciuolo, A P Monaco, K H Fischbeck, and N E Haites
J Med Genet 1994; 31: 193-196. doi:10.1136/jmg.31.3.193 [Abstract] [PDF] [Request Permissions]

Confirmation of association between the e4 allele of apolipoprotein E and Alzheimer's disease.
M Liddell, J Williams, A Bayer, F Kaiser, and M Owen
J Med Genet 1994; 31: 197-200. doi:10.1136/jmg.31.3.197 [Abstract] [PDF] [Request Permissions]

Familial pericentric inversion inv(8)(p23q11).
H Boyd, J Kaste, E Hovi, U M Ritanen-Mohammed, H Kääriäinen, A de la Chapelle, and A E Lehesjoki
J Med Genet 1994; 31: 201-205. doi:10.1136/jmg.31.3.201 [Abstract] [PDF] [Request Permissions]

Elucidation of structural abnormalities of the X chromosome using fluorescence in situ hybridisation with a Y chromosome painting probe.
R T Howell, R Millener, S Thorne, J O'Loughlin, J Brassey, and A McDermott
J Med Genet 1994; 31: 206-208. doi:10.1136/jmg.31.3.206 [Abstract] [PDF] [Request Permissions]

Thalassaemia in Azerbaijan.
A M Kuliev, I M Rasulov, T Dadasheva, E I Schwarz, C Rosatelli, L Saba, A Meloni, E Gemidjioglu, M Petrou, and B Modell
J Med Genet 1994; 31: 209-212. doi:10.1136/jmg.31.3.209 [Abstract] [PDF] [Request Permissions]

Pyridoxine-refractory congenital sideroblastic anaemia with evidence for autosomal inheritance: exclusion of linkage to ALAS2 at Xp11.21 by polymorphism analysis.
P E Jardine, P D Cotter, S A Johnson, E J Fitzsimons, L Tyfield, P W Lunt, and D F Bishop
J Med Genet 1994; 31: 213-218. doi:10.1136/jmg.31.3.213 [Abstract] [PDF] [Request Permissions]

Crouzon syndrome is not linked to craniosynostosis loci at 7p and 5qter.
W Reardon, L van Herwerden, C Rose, B Jones, S Malcolm, and R M Winter
J Med Genet 1994; 31: 219-221. doi:10.1136/jmg.31.3.219 [Abstract] [PDF] [Request Permissions]

Stargardt's disease is not allelic to the genes for neuronal ceroid lipofuscinoses.
S Gerber, S Odent, A Postel-Vinay, N Janin, J L Dufier, A Munnich, J Frezal, and J Kaplan
J Med Genet 1994; 31: 222-223. doi:10.1136/jmg.31.3.222 [Abstract] [PDF] [Request Permissions]

Autosomal recessive disorders among Arabs: an overview from Kuwait.
A S Teebi
J Med Genet 1994; 31: 224-233. doi:10.1136/jmg.31.3.224 [Abstract] [PDF] [Request Permissions]

Value of chromosome painting in determining the chromosomal outcome in offspring of a 12;16 translocation carrier.
C A Brandt, T Lyngbye, S Pedersen, L Bolund, and U Friedrich
J Med Genet 1994; 31: 234-237. doi:10.1136/jmg.31.3.234 [Abstract] [PDF] [Request Permissions]

Trisomy 8 syndrome owing to isodicentric 8p chromosomes: regional assignment of a presumptive gene involved in corpus callosum development.
M C Digilio, A Giannotti, G Floridia, F Uccellatore, R Mingarelli, C Danesino, B Dallapiccola, and O Zuffardi
J Med Genet 1994; 31: 238-241. doi:10.1136/jmg.31.3.238 [Abstract] [PDF] [Request Permissions]

Apparent SMA I unlinked to 5q.
J M Cobben, H Scheffer, M de Visser, J H Begeer, W M Molenaar, G van der Steege, C H Buys, G J van Ommen, and L P Ten Kate
J Med Genet 1994; 31: 242-244. doi:10.1136/jmg.31.3.242 [Abstract] [PDF] [Request Permissions]

X linked mental retardation with non-deletional alpha thalassaemia (ATR-X): further delineation of the phenotype.
R Ogle, M DeSouza, C Cunningham, B Kerr, and D Sillence
J Med Genet 1994; 31: 245-247. doi:10.1136/jmg.31.3.245 [Abstract] [PDF] [Request Permissions]

A PCR based method to determine the Kalow allele of the cholinesterase gene: the E1k allele frequency and its significance in the normal population.
D Gaffney and R A Campbell
J Med Genet 1994; 31: 248-250. doi:10.1136/jmg.31.3.248 [Abstract] [PDF] [Request Permissions]

Spastic paraplegia, dysarthria, brachydactyly, and cone shaped epiphyses: confirmation of the Fitzsimmons syndrome.
R C Hennekam
J Med Genet 1994; 31: 251-252. doi:10.1136/jmg.31.3.251 [Abstract] [PDF] [Request Permissions]

Trisomy 12 mosaicism in a 7 year old girl with dysmorphic features and normal mental development.
C J English, J A Goodship, A Jackson, M Lowry, and J Wolstenholme
J Med Genet 1994; 31: 253-254. doi:10.1136/jmg.31.3.253 [Abstract] [PDF] [Request Permissions]

Parental origin of the X chromosome in a patient with a Robertsonian translocation and Turner's syndrome.
M Krajinovic, K Ivanovic, L Mestroni, V Diklic, and J Nikolis
J Med Genet 1994; 31: 255-256. doi:10.1136/jmg.31.3.255 [Abstract] [PDF] [Request Permissions]

Neurogenic bladder in Hunter's syndrome.
K Koyama, Y Moda, A Sone, H Tanaka, and Y Hino
J Med Genet 1994; 31: 257-258. doi:10.1136/jmg.31.3.257 [Abstract] [PDF] [Request Permissions]

Epidermal mosaicism and Blaschko's lines.
J Chemke
J Med Genet 1994; 31: 260. doi:10.1136/jmg.31.3.260 [PDF] [Request Permissions]

Homozygosity at the dopamine D3 receptor locus is not associated with schizophrenia.
C Laurent, C Savoye, D Samolyk, R Meloni, J Mallet, D Campion, M Martinez, T D'Amato, C Bastard, and S Dollfus
J Med Genet 1994; 31: 260. doi:10.1136/jmg.31.3.260-a [PDF] [Request Permissions]

Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype.
G Gillessen-Kaesbach and B Horsthemke
J Med Genet 1994; 31: 260-261. doi:10.1136/jmg.31.3.260-b [PDF] [Request Permissions]

Genetic studies of thymic carcinoids in multiple endocrine neoplasia type 1.
B T Teh, N K Hayward, M K Walters, J J Shepherd, S Wilkinson, M Nordenskjold, and C Larsson
J Med Genet 1994; 31: 261-262. doi:10.1136/jmg.31.3.261 [PDF] [Request Permissions]

Register for free content

The full back archive is now available for all BMJ Journals. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006 right back to volume 1 issue 1. Register here to access the free archive of all BMJ Journals.

Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.

Genetics jobs

Show me all >>

	Medical genetics: advances in brief: Editorial: our educational challenge Frances Flinter J Med Genet 1994; 31: 259. doi:10.1136/jmg.31.3.259 [PDF] [Request Permissions]

	Medical genetics: advances in brief: Replication structure of the human β-globin gene domain Andrew Wilkie J Med Genet 1994; 31: 259. doi:10.1136/jmg.31.3.259-a [PDF] [Request Permissions]

	Medical genetics: advances in brief: Diagnosis of human genetic disease using recombinant DNA; fourth edition John C K Barber J Med Genet 1994; 31: 259. doi:10.1136/jmg.31.3.259-b [PDF] [Request Permissions]

	Medical genetics: advances in brief: Denys-Drash syndrome: relating a clinical disorder to genetic alterations in the tumor-suppressor gene WT1 Jill Clayton-Smith J Med Genet 1994; 31: 259. doi:10.1136/jmg.31.3.259-c [PDF] [Request Permissions]

	Advances in Human Genetics Andrew P Read J Med Genet 1994; 31: 262. doi:10.1136/jmg.31.3.262 [PDF] [Request Permissions]

	Human Gene Mutation J H Edwards J Med Genet 1994; 31: 262-263. doi:10.1136/jmg.31.3.262-a [PDF] [Request Permissions]

	Book reviews I D Young J Med Genet 1994; 31: 263. doi:10.1136/jmg.31.3.263 [PDF] [Request Permissions]

	Essential Medical Genetics Angus Clarke J Med Genet 1994; 31: 263. doi:10.1136/jmg.31.3.263-a [PDF] [Request Permissions]

	Heredity and Your Family's Health Hilary J Harris J Med Genet 1994; 31: 263-264. doi:10.1136/jmg.31.3.263-b [PDF] [Request Permissions]

	Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration. A Hirvasniemi, H Lang, A E Lehesjoki, and J Leisti J Med Genet 1994; 31: 177-182. doi:10.1136/jmg.31.3.177 [Abstract] [PDF] [Request Permissions]

	On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis. T Grimm, G Meng, S Liechti-Gallati, T Bettecken, C R Müller, and B Müller J Med Genet 1994; 31: 183-186. doi:10.1136/jmg.31.3.183 [Abstract] [PDF] [Request Permissions]

	Genetic study of indirect inguinal hernia. Y Gong, C Shao, Q Sun, B Chen, Y Jiang, C Guo, J Wei, and Y Guo J Med Genet 1994; 31: 187-192. doi:10.1136/jmg.31.3.187 [Abstract] [PDF] [Request Permissions]

	X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms. S Cochrane, J Bergoffen, N D Fairweather, E Müller, M L Mostacciuolo, A P Monaco, K H Fischbeck, and N E Haites J Med Genet 1994; 31: 193-196. doi:10.1136/jmg.31.3.193 [Abstract] [PDF] [Request Permissions]

	Confirmation of association between the e4 allele of apolipoprotein E and Alzheimer's disease. M Liddell, J Williams, A Bayer, F Kaiser, and M Owen J Med Genet 1994; 31: 197-200. doi:10.1136/jmg.31.3.197 [Abstract] [PDF] [Request Permissions]

	Familial pericentric inversion inv(8)(p23q11). H Boyd, J Kaste, E Hovi, U M Ritanen-Mohammed, H Kääriäinen, A de la Chapelle, and A E Lehesjoki J Med Genet 1994; 31: 201-205. doi:10.1136/jmg.31.3.201 [Abstract] [PDF] [Request Permissions]

	Elucidation of structural abnormalities of the X chromosome using fluorescence in situ hybridisation with a Y chromosome painting probe. R T Howell, R Millener, S Thorne, J O'Loughlin, J Brassey, and A McDermott J Med Genet 1994; 31: 206-208. doi:10.1136/jmg.31.3.206 [Abstract] [PDF] [Request Permissions]

	Thalassaemia in Azerbaijan. A M Kuliev, I M Rasulov, T Dadasheva, E I Schwarz, C Rosatelli, L Saba, A Meloni, E Gemidjioglu, M Petrou, and B Modell J Med Genet 1994; 31: 209-212. doi:10.1136/jmg.31.3.209 [Abstract] [PDF] [Request Permissions]

	Pyridoxine-refractory congenital sideroblastic anaemia with evidence for autosomal inheritance: exclusion of linkage to ALAS2 at Xp11.21 by polymorphism analysis. P E Jardine, P D Cotter, S A Johnson, E J Fitzsimons, L Tyfield, P W Lunt, and D F Bishop J Med Genet 1994; 31: 213-218. doi:10.1136/jmg.31.3.213 [Abstract] [PDF] [Request Permissions]

	Crouzon syndrome is not linked to craniosynostosis loci at 7p and 5qter. W Reardon, L van Herwerden, C Rose, B Jones, S Malcolm, and R M Winter J Med Genet 1994; 31: 219-221. doi:10.1136/jmg.31.3.219 [Abstract] [PDF] [Request Permissions]

	Stargardt's disease is not allelic to the genes for neuronal ceroid lipofuscinoses. S Gerber, S Odent, A Postel-Vinay, N Janin, J L Dufier, A Munnich, J Frezal, and J Kaplan J Med Genet 1994; 31: 222-223. doi:10.1136/jmg.31.3.222 [Abstract] [PDF] [Request Permissions]

	Autosomal recessive disorders among Arabs: an overview from Kuwait. A S Teebi J Med Genet 1994; 31: 224-233. doi:10.1136/jmg.31.3.224 [Abstract] [PDF] [Request Permissions]

	Value of chromosome painting in determining the chromosomal outcome in offspring of a 12;16 translocation carrier. C A Brandt, T Lyngbye, S Pedersen, L Bolund, and U Friedrich J Med Genet 1994; 31: 234-237. doi:10.1136/jmg.31.3.234 [Abstract] [PDF] [Request Permissions]

	Trisomy 8 syndrome owing to isodicentric 8p chromosomes: regional assignment of a presumptive gene involved in corpus callosum development. M C Digilio, A Giannotti, G Floridia, F Uccellatore, R Mingarelli, C Danesino, B Dallapiccola, and O Zuffardi J Med Genet 1994; 31: 238-241. doi:10.1136/jmg.31.3.238 [Abstract] [PDF] [Request Permissions]

	Apparent SMA I unlinked to 5q. J M Cobben, H Scheffer, M de Visser, J H Begeer, W M Molenaar, G van der Steege, C H Buys, G J van Ommen, and L P Ten Kate J Med Genet 1994; 31: 242-244. doi:10.1136/jmg.31.3.242 [Abstract] [PDF] [Request Permissions]

	X linked mental retardation with non-deletional alpha thalassaemia (ATR-X): further delineation of the phenotype. R Ogle, M DeSouza, C Cunningham, B Kerr, and D Sillence J Med Genet 1994; 31: 245-247. doi:10.1136/jmg.31.3.245 [Abstract] [PDF] [Request Permissions]

	A PCR based method to determine the Kalow allele of the cholinesterase gene: the E1k allele frequency and its significance in the normal population. D Gaffney and R A Campbell J Med Genet 1994; 31: 248-250. doi:10.1136/jmg.31.3.248 [Abstract] [PDF] [Request Permissions]

	Spastic paraplegia, dysarthria, brachydactyly, and cone shaped epiphyses: confirmation of the Fitzsimmons syndrome. R C Hennekam J Med Genet 1994; 31: 251-252. doi:10.1136/jmg.31.3.251 [Abstract] [PDF] [Request Permissions]

	Trisomy 12 mosaicism in a 7 year old girl with dysmorphic features and normal mental development. C J English, J A Goodship, A Jackson, M Lowry, and J Wolstenholme J Med Genet 1994; 31: 253-254. doi:10.1136/jmg.31.3.253 [Abstract] [PDF] [Request Permissions]

	Parental origin of the X chromosome in a patient with a Robertsonian translocation and Turner's syndrome. M Krajinovic, K Ivanovic, L Mestroni, V Diklic, and J Nikolis J Med Genet 1994; 31: 255-256. doi:10.1136/jmg.31.3.255 [Abstract] [PDF] [Request Permissions]

	Neurogenic bladder in Hunter's syndrome. K Koyama, Y Moda, A Sone, H Tanaka, and Y Hino J Med Genet 1994; 31: 257-258. doi:10.1136/jmg.31.3.257 [Abstract] [PDF] [Request Permissions]

	Epidermal mosaicism and Blaschko's lines. J Chemke J Med Genet 1994; 31: 260. doi:10.1136/jmg.31.3.260 [PDF] [Request Permissions]

	Homozygosity at the dopamine D3 receptor locus is not associated with schizophrenia. C Laurent, C Savoye, D Samolyk, R Meloni, J Mallet, D Campion, M Martinez, T D'Amato, C Bastard, and S Dollfus J Med Genet 1994; 31: 260. doi:10.1136/jmg.31.3.260-a [PDF] [Request Permissions]

	Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype. G Gillessen-Kaesbach and B Horsthemke J Med Genet 1994; 31: 260-261. doi:10.1136/jmg.31.3.260-b [PDF] [Request Permissions]

	Genetic studies of thymic carcinoids in multiple endocrine neoplasia type 1. B T Teh, N K Hayward, M K Walters, J J Shepherd, S Wilkinson, M Nordenskjold, and C Larsson J Med Genet 1994; 31: 261-262. doi:10.1136/jmg.31.3.261 [PDF] [Request Permissions]