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April 1997 (Volume 34, Number 4). [Index by author]

		Book Reviews Letters to the Editor Medical Genetics: Advances in Brief Research Article

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Book Reviews

Familial Cancer Management
Diana M Eccles
J Med Genet 1997; 34: 351. doi:10.1136/jmg.34.4.351 [PDF] [Request Permissions]

Etiology and Pathogenesis of Down Syndrome
Stylianos E Antonarakis
J Med Genet 1997; 34: 351. doi:10.1136/jmg.34.4.351-a [PDF] [Request Permissions]

Starting and Sustaining Genetic Support Groups
Jane Belman
J Med Genet 1997; 34: 351. doi:10.1136/jmg.34.4.351-b [PDF] [Request Permissions]

Letters to the Editor

Reply
Annette K Taylor
J Med Genet 1997; 34: 350. doi:10.1136/jmg.34.4.350-a [PDF] [Request Permissions]

Medical Genetics: Advances in Brief

Non-invasive perinatal necropsy by magnetic resonance imaging
Angela Barnicoat
J Med Genet 1997; 34: 349. doi:10.1136/jmg.34.4.349 [PDF] [Request Permissions]

Support for the prion hypothesis for inheritance of a phenotypic trait in yeast
Eli Hatchwell
J Med Genet 1997; 34: 349. doi:10.1136/jmg.34.4.349-a [PDF] [Request Permissions]

Familial transmission of the FMR1 CGG repeat
Frances Flinter
J Med Genet 1997; 34: 349. doi:10.1136/jmg.34.4.349-b [PDF] [Request Permissions]

Research Article

Menkes disease: recent advances and new aspects.
Z Tümer and N Horn
J Med Genet 1997; 34: 265-274. doi:10.1136/jmg.34.4.265 [PDF] [Request Permissions]

Global prevalence of putative haemochromatosis mutations.
A T Merryweather-Clarke, J J Pointon, J D Shearman, and K J Robson
J Med Genet 1997; 34: 275-278. doi:10.1136/jmg.34.4.275 [Abstract] [PDF] [Request Permissions]

The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases.
R Axton, I Hanson, S Danes, G Sellar, V van Heyningen, and J Prosser
J Med Genet 1997; 34: 279-286. doi:10.1136/jmg.34.4.279 [Abstract] [PDF] [Request Permissions]

RDCI, the vasoactive intestinal peptide receptor: a candidate gene for the features of Albright hereditary osteodystrophy associated with deletion of 2q37.
M M Power, R S James, J C Barber, A M Fisher, P J Wood, B A Leatherdale, D E Flanagan, and E Hatchwell
J Med Genet 1997; 34: 287-290. doi:10.1136/jmg.34.4.287 [Abstract] [PDF] [Request Permissions]

Detection of a novel mutation in the ryanodine receptor gene in an Irish malignant hyperthermia pedigree: correlation of the IVCT response with the affected and unaffected haplotypes.
K E Keating, L Giblin, P J Lynch, K A Quane, M Lehane, J J Heffron, and T V McCarthy
J Med Genet 1997; 34: 291-296. doi:10.1136/jmg.34.4.291 [Abstract] [PDF] [Request Permissions]

CFTR mutations and IVS8-5T variant in newborns with hypertrypsinaemia and normal sweat test.
C Castellani, A Bonizzato, and G Mastella
J Med Genet 1997; 34: 297-301. doi:10.1136/jmg.34.4.297 [Abstract] [PDF] [Request Permissions]

Prenatal detection of fetal aneuploidies using transcervical cell samples.
J Sherlock, A Halder, B Tutschek, J Delhanty, C Rodeck, and M Adinolfi
J Med Genet 1997; 34: 302-305. doi:10.1136/jmg.34.4.302 [Abstract] [PDF] [Request Permissions]

Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis.
H Fryssira, R Palmer, K A Hallidie-Smith, J Taylor, D Donnai, and W Reardon
J Med Genet 1997; 34: 306-308. doi:10.1136/jmg.34.4.306 [Abstract] [PDF] [Request Permissions]

Detection of a de novo duplication of 1q32-qter by fluorescence in situ hybridisation in a boy with multiple malformations: further delineation of the trisomy 1q syndrome.
H C Duba, M Erdel, J Löffler, L Bereuther, H Fischer, B Utermann, and G Utermann
J Med Genet 1997; 34: 309-313. doi:10.1136/jmg.34.4.309 [Abstract] [PDF] [Request Permissions]

Molecular-cytogenetic detection of a deletion of 1p36.3.
F Giraudeau, D Aubert, I Young, S Horsley, S Knight, L Kearney, G Vergnaud, and J Flint
J Med Genet 1997; 34: 314-317. doi:10.1136/jmg.34.4.314 [Abstract] [PDF] [Request Permissions]

Prader-Willi syndrome in a child with mosaic trisomy 15 and mosaic triplo-X: a molecular analysis.
K Devriendt, G Matthijs, S Claes, E Legius, W Proesmans, J J Cassiman, and J P Fryns
J Med Genet 1997; 34: 318-322. doi:10.1136/jmg.34.4.318 [Abstract] [PDF] [Request Permissions]

The Y specific growth gene(s): how does it promote stature?
T Ogata and N Matsuo
J Med Genet 1997; 34: 323-325. doi:10.1136/jmg.34.4.323 [Abstract] [PDF] [Request Permissions]

Alport's syndrome.
F Flinter
J Med Genet 1997; 34: 326-330. doi:10.1136/jmg.34.4.326 [Abstract] [PDF] [Request Permissions]

Impaired male sex development in an infant with molecularly defined partial 9p monosomy: implication for a testis forming gene(s) on 9p.
T Ogata, K Muroya, N Matsuo, J Hata, Y Fukushima, and Y Suzuki
J Med Genet 1997; 34: 331-334. doi:10.1136/jmg.34.4.331 [Abstract] [PDF] [Request Permissions]

A 4 Mb cryptic deletion associated with inv(8)(q13.1q24.11) in a patient with trichorhinophalangeal syndrome type I.
T Sasaki, H Tonoki, H Soejima, and N Niikawa
J Med Genet 1997; 34: 335-339. doi:10.1136/jmg.34.4.335 [Abstract] [PDF] [Request Permissions]

Proximal and distal spinal muscular atrophy in one family: molecular genetic studies provide further evidence for the non-allelic origin of both diseases.
S Spranger, S Rudnik-Schöneborn, M Spranger, M Schächtele, K Zerres, and B Wirth
J Med Genet 1997; 34: 340-342. doi:10.1136/jmg.34.4.340 [Abstract] [PDF] [Request Permissions]

Physical localisation of the breakpoints of a constitutional translocation t(5;6)(q21;q21) in a child with bilateral Wilms' tumour.
P R Hoban, R L Cowen, E L Mitchell, D G Evans, M Kelly, P J Howard, and J Heighway
J Med Genet 1997; 34: 343-345. doi:10.1136/jmg.34.4.343 [Abstract] [PDF] [Request Permissions]

Report of the Fifth European Meeting on Psychosocial Aspects of Genetics.
C Barnes, T Marteau, and G Evers-Kiebooms
J Med Genet 1997; 34: 346-348. doi:10.1136/jmg.34.4.346 [PDF] [Request Permissions]

FMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male.
D Z Loesch
J Med Genet 1997; 34: 350. doi:10.1136/jmg.34.4.350 [PDF] [Request Permissions]

Raising the sensitivity of fetal RhD typing and sex determination from maternal blood.
M Hengstschläger, G Hölzl, B Ulm, and G Bernaschek
J Med Genet 1997; 34: 350-351. doi:10.1136/jmg.34.4.350-b [PDF] [Request Permissions]

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	Familial Cancer Management Diana M Eccles J Med Genet 1997; 34: 351. doi:10.1136/jmg.34.4.351 [PDF] [Request Permissions]

	Etiology and Pathogenesis of Down Syndrome Stylianos E Antonarakis J Med Genet 1997; 34: 351. doi:10.1136/jmg.34.4.351-a [PDF] [Request Permissions]

	Starting and Sustaining Genetic Support Groups Jane Belman J Med Genet 1997; 34: 351. doi:10.1136/jmg.34.4.351-b [PDF] [Request Permissions]

	Reply Annette K Taylor J Med Genet 1997; 34: 350. doi:10.1136/jmg.34.4.350-a [PDF] [Request Permissions]

	Non-invasive perinatal necropsy by magnetic resonance imaging Angela Barnicoat J Med Genet 1997; 34: 349. doi:10.1136/jmg.34.4.349 [PDF] [Request Permissions]

	Support for the prion hypothesis for inheritance of a phenotypic trait in yeast Eli Hatchwell J Med Genet 1997; 34: 349. doi:10.1136/jmg.34.4.349-a [PDF] [Request Permissions]

	Familial transmission of the FMR1 CGG repeat Frances Flinter J Med Genet 1997; 34: 349. doi:10.1136/jmg.34.4.349-b [PDF] [Request Permissions]

	Menkes disease: recent advances and new aspects. Z Tümer and N Horn J Med Genet 1997; 34: 265-274. doi:10.1136/jmg.34.4.265 [PDF] [Request Permissions]

	Global prevalence of putative haemochromatosis mutations. A T Merryweather-Clarke, J J Pointon, J D Shearman, and K J Robson J Med Genet 1997; 34: 275-278. doi:10.1136/jmg.34.4.275 [Abstract] [PDF] [Request Permissions]

	The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases. R Axton, I Hanson, S Danes, G Sellar, V van Heyningen, and J Prosser J Med Genet 1997; 34: 279-286. doi:10.1136/jmg.34.4.279 [Abstract] [PDF] [Request Permissions]

	RDCI, the vasoactive intestinal peptide receptor: a candidate gene for the features of Albright hereditary osteodystrophy associated with deletion of 2q37. M M Power, R S James, J C Barber, A M Fisher, P J Wood, B A Leatherdale, D E Flanagan, and E Hatchwell J Med Genet 1997; 34: 287-290. doi:10.1136/jmg.34.4.287 [Abstract] [PDF] [Request Permissions]

	Detection of a novel mutation in the ryanodine receptor gene in an Irish malignant hyperthermia pedigree: correlation of the IVCT response with the affected and unaffected haplotypes. K E Keating, L Giblin, P J Lynch, K A Quane, M Lehane, J J Heffron, and T V McCarthy J Med Genet 1997; 34: 291-296. doi:10.1136/jmg.34.4.291 [Abstract] [PDF] [Request Permissions]

	CFTR mutations and IVS8-5T variant in newborns with hypertrypsinaemia and normal sweat test. C Castellani, A Bonizzato, and G Mastella J Med Genet 1997; 34: 297-301. doi:10.1136/jmg.34.4.297 [Abstract] [PDF] [Request Permissions]

	Prenatal detection of fetal aneuploidies using transcervical cell samples. J Sherlock, A Halder, B Tutschek, J Delhanty, C Rodeck, and M Adinolfi J Med Genet 1997; 34: 302-305. doi:10.1136/jmg.34.4.302 [Abstract] [PDF] [Request Permissions]

	Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis. H Fryssira, R Palmer, K A Hallidie-Smith, J Taylor, D Donnai, and W Reardon J Med Genet 1997; 34: 306-308. doi:10.1136/jmg.34.4.306 [Abstract] [PDF] [Request Permissions]

	Detection of a de novo duplication of 1q32-qter by fluorescence in situ hybridisation in a boy with multiple malformations: further delineation of the trisomy 1q syndrome. H C Duba, M Erdel, J Löffler, L Bereuther, H Fischer, B Utermann, and G Utermann J Med Genet 1997; 34: 309-313. doi:10.1136/jmg.34.4.309 [Abstract] [PDF] [Request Permissions]

	Molecular-cytogenetic detection of a deletion of 1p36.3. F Giraudeau, D Aubert, I Young, S Horsley, S Knight, L Kearney, G Vergnaud, and J Flint J Med Genet 1997; 34: 314-317. doi:10.1136/jmg.34.4.314 [Abstract] [PDF] [Request Permissions]

	Prader-Willi syndrome in a child with mosaic trisomy 15 and mosaic triplo-X: a molecular analysis. K Devriendt, G Matthijs, S Claes, E Legius, W Proesmans, J J Cassiman, and J P Fryns J Med Genet 1997; 34: 318-322. doi:10.1136/jmg.34.4.318 [Abstract] [PDF] [Request Permissions]

	The Y specific growth gene(s): how does it promote stature? T Ogata and N Matsuo J Med Genet 1997; 34: 323-325. doi:10.1136/jmg.34.4.323 [Abstract] [PDF] [Request Permissions]

	Alport's syndrome. F Flinter J Med Genet 1997; 34: 326-330. doi:10.1136/jmg.34.4.326 [Abstract] [PDF] [Request Permissions]

	Impaired male sex development in an infant with molecularly defined partial 9p monosomy: implication for a testis forming gene(s) on 9p. T Ogata, K Muroya, N Matsuo, J Hata, Y Fukushima, and Y Suzuki J Med Genet 1997; 34: 331-334. doi:10.1136/jmg.34.4.331 [Abstract] [PDF] [Request Permissions]

	A 4 Mb cryptic deletion associated with inv(8)(q13.1q24.11) in a patient with trichorhinophalangeal syndrome type I. T Sasaki, H Tonoki, H Soejima, and N Niikawa J Med Genet 1997; 34: 335-339. doi:10.1136/jmg.34.4.335 [Abstract] [PDF] [Request Permissions]

	Proximal and distal spinal muscular atrophy in one family: molecular genetic studies provide further evidence for the non-allelic origin of both diseases. S Spranger, S Rudnik-Schöneborn, M Spranger, M Schächtele, K Zerres, and B Wirth J Med Genet 1997; 34: 340-342. doi:10.1136/jmg.34.4.340 [Abstract] [PDF] [Request Permissions]

	Physical localisation of the breakpoints of a constitutional translocation t(5;6)(q21;q21) in a child with bilateral Wilms' tumour. P R Hoban, R L Cowen, E L Mitchell, D G Evans, M Kelly, P J Howard, and J Heighway J Med Genet 1997; 34: 343-345. doi:10.1136/jmg.34.4.343 [Abstract] [PDF] [Request Permissions]

	Report of the Fifth European Meeting on Psychosocial Aspects of Genetics. C Barnes, T Marteau, and G Evers-Kiebooms J Med Genet 1997; 34: 346-348. doi:10.1136/jmg.34.4.346 [PDF] [Request Permissions]

	FMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male. D Z Loesch J Med Genet 1997; 34: 350. doi:10.1136/jmg.34.4.350 [PDF] [Request Permissions]

	Raising the sensitivity of fetal RhD typing and sex determination from maternal blood. M Hengstschläger, G Hölzl, B Ulm, and G Bernaschek J Med Genet 1997; 34: 350-351. doi:10.1136/jmg.34.4.350-b [PDF] [Request Permissions]