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March 1998 (Volume 35, Number 3). [Index by author]

		Abstracts Book Review Research Article

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Abstracts

Medical genetics: advances in brief: Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing
David O Robinson
J Med Genet 1998; 35: 260. doi:10.1136/jmg.35.3.260 [PDF] [Request Permissions]

Medical genetics: advances in brief: High incidence of Down's syndrome in infants of diabetic mothers
Sarah Slaney
J Med Genet 1998; 35: 260. doi:10.1136/jmg.35.3.260-a [PDF] [Request Permissions]

Medical genetics: advances in brief: Screening of newborn babies for familial ureteric reflux
Angela Barnicoat
J Med Genet 1998; 35: 260. doi:10.1136/jmg.35.3.260-b [PDF] [Request Permissions]

Medical genetics: advances in brief: Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis
Angela Barnicoat
J Med Genet 1998; 35: 260. doi:10.1136/jmg.35.3.260-c [PDF] [Request Permissions]

Medical genetics: advances in brief: Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations
Frances Flinter
J Med Genet 1998; 35: 261. doi:10.1136/jmg.35.3.261 [PDF] [Request Permissions]

Medical genetics: advances in brief: Positional cloning of the gene associated with X-linked juvenile retinoschisis
David O Robinson
J Med Genet 1998; 35: 261. doi:10.1136/jmg.35.3.261-a [PDF] [Request Permissions]

Book Review

Correcting the Blueprint of Life. An Historical Account of the Discovery of DNA Repair Mechanisms
Bryn Bridges
J Med Genet 1998; 35: 264. doi:10.1136/jmg.35.3.264 [PDF] [Request Permissions]

Research Article

Recurrence risks in mental retardation.
Y J Crow and J L Tolmie
J Med Genet 1998; 35: 177-182. doi:10.1136/jmg.35.3.177 [Abstract] [PDF] [Request Permissions]

Counselling issues in familial hypertrophic cardiomyopathy.
B Yu, J A French, R W Jeremy, P French, D R McTaggart, M R Nicholson, C Semsarian, D R Richmond, and R J Trent
J Med Genet 1998; 35: 183-188. doi:10.1136/jmg.35.3.183 [Abstract] [PDF] [Request Permissions]

How the magnitude of clinical severity and recurrence risk affects reproductive decisions in adult males with different forms of progressive muscular dystrophy.
S Eggers and M Zatz
J Med Genet 1998; 35: 189-195. doi:10.1136/jmg.35.3.189 [Abstract] [PDF] [Request Permissions]

Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia families.
R Robinson, J L Curran, W J Hall, P J Halsall, P M Hopkins, A F Markham, A D Stewart, S P West, and F R Ellis
J Med Genet 1998; 35: 196-201. doi:10.1136/jmg.35.3.196 [Abstract] [PDF] [Request Permissions]

Further refinement of Pendred syndrome locus by homozygosity analysis to a 0.8 cM interval flanked by D7S496 and D7S2425.
M Mustapha, S T Azar, Y B Moglabey, M Saouda, G Zeitoun, J Loiselet, and R Slim
J Med Genet 1998; 35: 202-204. doi:10.1136/jmg.35.3.202 [Abstract] [PDF] [Request Permissions]

Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene.
B Yu, J A French, L Carrier, R W Jeremy, D R McTaggart, M R Nicholson, B Hambly, C Semsarian, D R Richmond, K Schwartz, and R J Trent
J Med Genet 1998; 35: 205-210. doi:10.1136/jmg.35.3.205 [Abstract] [PDF] [Request Permissions]

PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.
P Guicheney, N Vignier, X Zhang, Y He, C Cruaud, V Frey, A Helbling-Leclerc, P Richard, B Estournet, L Merlini, H Topaloglu, M Mora, J P Harpey, C A Haenggeli, A Barois, B Hainque, K Schwartz, F M Tomé, M Fardeau, and K Tryggvason
J Med Genet 1998; 35: 211-217. doi:10.1136/jmg.35.3.211 [Abstract] [PDF] [Request Permissions]

Evidence of linkage of the inflammatory bowel disease susceptibility locus on chromosome 16 (IBD1) to ulcerative colitis.
M M Mirza, J Lee, D Teare, J P Hugot, P Laurent-Puig, J F Colombel, S V Hodgson, G Thomas, D F Easton, J E Lennard-Jones, and C G Mathew
J Med Genet 1998; 35: 218-221. doi:10.1136/jmg.35.3.218 [Abstract] [PDF] [Request Permissions]

Outcome of chromosomally normal livebirths with increased fetal nuchal translucency at 10-14 weeks' gestation.
A F Brady, P P Pandya, B Yuksel, A Greenough, M A Patton, and K H Nicolaides
J Med Genet 1998; 35: 222-224. doi:10.1136/jmg.35.3.222 [Abstract] [PDF] [Request Permissions]

A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation.
S R Ghaffari, E Boyd, J L Tolmie, Y J Crow, A H Trainer, and J M Connor
J Med Genet 1998; 35: 225-233. doi:10.1136/jmg.35.3.225 [Abstract] [PDF] [Request Permissions]

A new approach to the elucidation of complex chromosome rearrangements illustrated by a case of Rieger syndrome.
C M Ogilvie, F L Raymond, R H Harrison, P N Scriven, and Z Docherty
J Med Genet 1998; 35: 234-237. doi:10.1136/jmg.35.3.234 [Abstract] [PDF] [Request Permissions]

Costello syndrome.
N Philip and S Sigaudy
J Med Genet 1998; 35: 238-240. doi:10.1136/jmg.35.3.238 [Abstract] [PDF] [Request Permissions]

Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity.
M C Vincent, C Guiraud-Chaumeil, J Laporte, S Manouvrier-Hanu, and J L Mandel
J Med Genet 1998; 35: 241-243. doi:10.1136/jmg.35.3.241 [Abstract] [PDF] [Request Permissions]

Molecular basis of variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene.
J Frank, H Lam, E Zaider, M Poh-Fitzpatrick, and A M Christiano
J Med Genet 1998; 35: 244-247. doi:10.1136/jmg.35.3.244 [Abstract] [PDF] [Request Permissions]

Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7.
M L Carey, T B Friedman, J H Asher, Jr, and J W Innis
J Med Genet 1998; 35: 248-250. doi:10.1136/jmg.35.3.248 [Abstract] [PDF] [Request Permissions]

The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease.
F Meggouh, A Benomar, H Rouger, S Tardieu, N Birouk, J Tassin, C Barhoumi, M Yahyaoui, T Chkili, A Brice, and E LeGuern
J Med Genet 1998; 35: 251-252. doi:10.1136/jmg.35.3.251 [Abstract] [PDF] [Request Permissions]

Identification of a new missense mutation in MyBP-C associated with hypertrophic cardiomyopathy.
J C Moolman-Smook, B Mayosi, P Brink, and V A Corfield
J Med Genet 1998; 35: 253-254. doi:10.1136/jmg.35.3.253 [Abstract] [PDF] [Request Permissions]

Pancreatic exocrine dysfunction associated with mitochondrial tRNA(Leu)(UUR) mutation.
H Onishi, T Hanihara, N Sugiyama, C Kawanishi, E Iseki, Y Maruyama, Y Yamada, K Kosaka, S Yagishita, H Sekihara, and S Satoh
J Med Genet 1998; 35: 255-257. doi:10.1136/jmg.35.3.255 [Abstract] [PDF] [Request Permissions]

Fuch's corneal dystrophy in a patient with mitochondrial DNA mutations.
R L Albin
J Med Genet 1998; 35: 258-259. doi:10.1136/jmg.35.3.258 [Abstract] [PDF] [Request Permissions]

Is meconium ileus genetically determined or associated with a more severe evolution of cystic fibrosis?
M De Braekeleer, C Allard, J P Leblanc, G Aubin, and F Simard
J Med Genet 1998; 35: 262-263. doi:10.1136/jmg.35.3.262 [PDF] [Request Permissions]

UK centres are not following the Royal College of Pathologists' recommendations for storage of Guthrie cards: a national policy is needed.
S Rahman, A Emery, and J Poulton
J Med Genet 1998; 35: 263. doi:10.1136/jmg.35.3.263 [PDF] [Request Permissions]

Cyclopia and sirenomelia in a liveborn infant.
M L Martínez-Frías, A García, and E Bermejo
J Med Genet 1998; 35: 263-264. doi:10.1136/jmg.35.3.263-a [PDF] [Request Permissions]

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	Medical genetics: advances in brief: Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing David O Robinson J Med Genet 1998; 35: 260. doi:10.1136/jmg.35.3.260 [PDF] [Request Permissions]

	Medical genetics: advances in brief: High incidence of Down's syndrome in infants of diabetic mothers Sarah Slaney J Med Genet 1998; 35: 260. doi:10.1136/jmg.35.3.260-a [PDF] [Request Permissions]

	Medical genetics: advances in brief: Screening of newborn babies for familial ureteric reflux Angela Barnicoat J Med Genet 1998; 35: 260. doi:10.1136/jmg.35.3.260-b [PDF] [Request Permissions]

	Medical genetics: advances in brief: Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis Angela Barnicoat J Med Genet 1998; 35: 260. doi:10.1136/jmg.35.3.260-c [PDF] [Request Permissions]

	Medical genetics: advances in brief: Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations Frances Flinter J Med Genet 1998; 35: 261. doi:10.1136/jmg.35.3.261 [PDF] [Request Permissions]

	Medical genetics: advances in brief: Positional cloning of the gene associated with X-linked juvenile retinoschisis David O Robinson J Med Genet 1998; 35: 261. doi:10.1136/jmg.35.3.261-a [PDF] [Request Permissions]

	Correcting the Blueprint of Life. An Historical Account of the Discovery of DNA Repair Mechanisms Bryn Bridges J Med Genet 1998; 35: 264. doi:10.1136/jmg.35.3.264 [PDF] [Request Permissions]

	Recurrence risks in mental retardation. Y J Crow and J L Tolmie J Med Genet 1998; 35: 177-182. doi:10.1136/jmg.35.3.177 [Abstract] [PDF] [Request Permissions]

	Counselling issues in familial hypertrophic cardiomyopathy. B Yu, J A French, R W Jeremy, P French, D R McTaggart, M R Nicholson, C Semsarian, D R Richmond, and R J Trent J Med Genet 1998; 35: 183-188. doi:10.1136/jmg.35.3.183 [Abstract] [PDF] [Request Permissions]

	How the magnitude of clinical severity and recurrence risk affects reproductive decisions in adult males with different forms of progressive muscular dystrophy. S Eggers and M Zatz J Med Genet 1998; 35: 189-195. doi:10.1136/jmg.35.3.189 [Abstract] [PDF] [Request Permissions]

	Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia families. R Robinson, J L Curran, W J Hall, P J Halsall, P M Hopkins, A F Markham, A D Stewart, S P West, and F R Ellis J Med Genet 1998; 35: 196-201. doi:10.1136/jmg.35.3.196 [Abstract] [PDF] [Request Permissions]

	Further refinement of Pendred syndrome locus by homozygosity analysis to a 0.8 cM interval flanked by D7S496 and D7S2425. M Mustapha, S T Azar, Y B Moglabey, M Saouda, G Zeitoun, J Loiselet, and R Slim J Med Genet 1998; 35: 202-204. doi:10.1136/jmg.35.3.202 [Abstract] [PDF] [Request Permissions]

	Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene. B Yu, J A French, L Carrier, R W Jeremy, D R McTaggart, M R Nicholson, B Hambly, C Semsarian, D R Richmond, K Schwartz, and R J Trent J Med Genet 1998; 35: 205-210. doi:10.1136/jmg.35.3.205 [Abstract] [PDF] [Request Permissions]

	PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy. P Guicheney, N Vignier, X Zhang, Y He, C Cruaud, V Frey, A Helbling-Leclerc, P Richard, B Estournet, L Merlini, H Topaloglu, M Mora, J P Harpey, C A Haenggeli, A Barois, B Hainque, K Schwartz, F M Tomé, M Fardeau, and K Tryggvason J Med Genet 1998; 35: 211-217. doi:10.1136/jmg.35.3.211 [Abstract] [PDF] [Request Permissions]

	Evidence of linkage of the inflammatory bowel disease susceptibility locus on chromosome 16 (IBD1) to ulcerative colitis. M M Mirza, J Lee, D Teare, J P Hugot, P Laurent-Puig, J F Colombel, S V Hodgson, G Thomas, D F Easton, J E Lennard-Jones, and C G Mathew J Med Genet 1998; 35: 218-221. doi:10.1136/jmg.35.3.218 [Abstract] [PDF] [Request Permissions]

	Outcome of chromosomally normal livebirths with increased fetal nuchal translucency at 10-14 weeks' gestation. A F Brady, P P Pandya, B Yuksel, A Greenough, M A Patton, and K H Nicolaides J Med Genet 1998; 35: 222-224. doi:10.1136/jmg.35.3.222 [Abstract] [PDF] [Request Permissions]

	A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation. S R Ghaffari, E Boyd, J L Tolmie, Y J Crow, A H Trainer, and J M Connor J Med Genet 1998; 35: 225-233. doi:10.1136/jmg.35.3.225 [Abstract] [PDF] [Request Permissions]

	A new approach to the elucidation of complex chromosome rearrangements illustrated by a case of Rieger syndrome. C M Ogilvie, F L Raymond, R H Harrison, P N Scriven, and Z Docherty J Med Genet 1998; 35: 234-237. doi:10.1136/jmg.35.3.234 [Abstract] [PDF] [Request Permissions]

	Costello syndrome. N Philip and S Sigaudy J Med Genet 1998; 35: 238-240. doi:10.1136/jmg.35.3.238 [Abstract] [PDF] [Request Permissions]

	Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity. M C Vincent, C Guiraud-Chaumeil, J Laporte, S Manouvrier-Hanu, and J L Mandel J Med Genet 1998; 35: 241-243. doi:10.1136/jmg.35.3.241 [Abstract] [PDF] [Request Permissions]

	Molecular basis of variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene. J Frank, H Lam, E Zaider, M Poh-Fitzpatrick, and A M Christiano J Med Genet 1998; 35: 244-247. doi:10.1136/jmg.35.3.244 [Abstract] [PDF] [Request Permissions]

	Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7. M L Carey, T B Friedman, J H Asher, Jr, and J W Innis J Med Genet 1998; 35: 248-250. doi:10.1136/jmg.35.3.248 [Abstract] [PDF] [Request Permissions]

	The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease. F Meggouh, A Benomar, H Rouger, S Tardieu, N Birouk, J Tassin, C Barhoumi, M Yahyaoui, T Chkili, A Brice, and E LeGuern J Med Genet 1998; 35: 251-252. doi:10.1136/jmg.35.3.251 [Abstract] [PDF] [Request Permissions]

	Identification of a new missense mutation in MyBP-C associated with hypertrophic cardiomyopathy. J C Moolman-Smook, B Mayosi, P Brink, and V A Corfield J Med Genet 1998; 35: 253-254. doi:10.1136/jmg.35.3.253 [Abstract] [PDF] [Request Permissions]

	Pancreatic exocrine dysfunction associated with mitochondrial tRNA(Leu)(UUR) mutation. H Onishi, T Hanihara, N Sugiyama, C Kawanishi, E Iseki, Y Maruyama, Y Yamada, K Kosaka, S Yagishita, H Sekihara, and S Satoh J Med Genet 1998; 35: 255-257. doi:10.1136/jmg.35.3.255 [Abstract] [PDF] [Request Permissions]

	Fuch's corneal dystrophy in a patient with mitochondrial DNA mutations. R L Albin J Med Genet 1998; 35: 258-259. doi:10.1136/jmg.35.3.258 [Abstract] [PDF] [Request Permissions]

	Is meconium ileus genetically determined or associated with a more severe evolution of cystic fibrosis? M De Braekeleer, C Allard, J P Leblanc, G Aubin, and F Simard J Med Genet 1998; 35: 262-263. doi:10.1136/jmg.35.3.262 [PDF] [Request Permissions]

	UK centres are not following the Royal College of Pathologists' recommendations for storage of Guthrie cards: a national policy is needed. S Rahman, A Emery, and J Poulton J Med Genet 1998; 35: 263. doi:10.1136/jmg.35.3.263 [PDF] [Request Permissions]

	Cyclopia and sirenomelia in a liveborn infant. M L Martínez-Frías, A García, and E Bermejo J Med Genet 1998; 35: 263-264. doi:10.1136/jmg.35.3.263-a [PDF] [Request Permissions]