J Med Genet -- Table of Contents (34 [6])

Subscribe here
Activate your subscription

Home > Volume 34, Number 6

Only Abstracts and PDFs available for this issue

Other Issues:
June 1997 (Volume 34, Number 6). [Index by author]

		Book Reviews Research Article

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

Table of Contents (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.

Book Reviews

Methods in Molecular Medicine: Molecular Diagnosis of Genetic Diseases
E Bakker
J Med Genet 1997; 34: 527. doi:10.1136/jmg.34.6.527 [PDF] [Request Permissions]

Genetic Intervention on Human Subjects
Mary J Seller
J Med Genet 1997; 34: 527. doi:10.1136/jmg.34.6.527-a [PDF] [Request Permissions]

Genomic Imprinting: Causes and Consequences
Marcus Pembrey
J Med Genet 1997; 34: 527-528. doi:10.1136/jmg.34.6.527-b [PDF] [Request Permissions]

Research Article

Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome.
S Kang, J Allen, J M Graham, Jr, T Grebe, C Clericuzio, N Patronas, F Ondrey, E Green, A Schäffer, M Abbott, and L G Biesecker
J Med Genet 1997; 34: 441-446. doi:10.1136/jmg.34.6.441 [Abstract] [PDF] [Request Permissions]

The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1).
R Morell, T B Friedman, J H Asher, Jr, and L G Robbins
J Med Genet 1997; 34: 447-452. doi:10.1136/jmg.34.6.447 [Abstract] [PDF] [Request Permissions]

Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS.
A Swillen, K Devriendt, E Legius, B Eyskens, M Dumoulin, M Gewillig, and J P Fryns
J Med Genet 1997; 34: 453-458. doi:10.1136/jmg.34.6.453 [Abstract] [PDF] [Request Permissions]

The uptake and acceptability to patients of cystic fibrosis carrier testing offered in pregnancy by the GP.
N E Hartley, D Scotcher, H Harris, P Williamson, A Wallace, D Craufurd, and R Harris
J Med Genet 1997; 34: 459-464. doi:10.1136/jmg.34.6.459 [Abstract] [PDF] [Request Permissions]

Arch fingerprints, hypotonia, and areflexia associated with X linked mental retardation.
R E Stevenson, B Häne, J F Arena, M May, L Lawrence, H A Lubs, and C E Schwartz
J Med Genet 1997; 34: 465-469. doi:10.1136/jmg.34.6.465 [Abstract] [PDF] [Request Permissions]

Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).
A Carrié, F Piccolo, F Leturcq, C de Toma, K Azibi, C Beldjord, J M Vallat, L Merlini, T Voit, C Sewry, J A Urtizberea, N Romero, F M Tomé, M Fardeau, Y Sunada, K P Campbell, J C Kaplan, and M Jeanpierre
J Med Genet 1997; 34: 470-475. doi:10.1136/jmg.34.6.470 [Abstract] [PDF] [Request Permissions]

Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD.
M Upadhyaya, J Maynard, M T Rogers, P W Lunt, P Jardine, D Ravine, and P S Harper
J Med Genet 1997; 34: 476-479. doi:10.1136/jmg.34.6.476 [Abstract] [PDF] [Request Permissions]

Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome.
S Lindsay, M Ireland, O O'Brien, J Clayton-Smith, J A Hurst, J Mann, T Cole, J Sampson, S Slaney, D Schlessinger, J Burn, and G Pilia
J Med Genet 1997; 34: 480-483. doi:10.1136/jmg.34.6.480 [Abstract] [PDF] [Request Permissions]

Identification of novel Bruton's tyrosine kinase mutations in 10 unrelated subjects with X linked agammaglobulinaemia.
R A Brooimans, A J van den Berg, G T Rijkers, L A Sanders, J K van Amstel, M G Tilanus, M J Grubben, and B J Zegers
J Med Genet 1997; 34: 484-488. doi:10.1136/jmg.34.6.484 [Abstract] [PDF] [Request Permissions]

Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.
C von Schnakenburg and G Rumsby
J Med Genet 1997; 34: 489-492. doi:10.1136/jmg.34.6.489 [Abstract] [PDF] [Request Permissions]

Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A gene.
M B Coulter-Mackie, L Gagnier, M J Beis, D A Applegarth, D E Cole, K Gordon, and M D Ludman
J Med Genet 1997; 34: 493-498. doi:10.1136/jmg.34.6.493 [Abstract] [PDF] [Request Permissions]

Pure hereditary spastic paraplegia.
E Reid
J Med Genet 1997; 34: 499-503. doi:10.1136/jmg.34.6.499 [PDF] [Request Permissions]

Linkage mapping of a large Colombian family segregating for X linked retinoschisis: refinement of the chromosomal location.
B S Shastry, J F Hejtmancik, A Rodriguez, F Rodriguez, and M L Tamayo
J Med Genet 1997; 34: 504-506. doi:10.1136/jmg.34.6.504 [Abstract] [PDF] [Request Permissions]

SMN gene analysis of the spinal form of Charcot-Marie-Tooth disease.
A Hanash, E Leguern, N Birouk, O Clermont, J Pouget, P Bouche, A Munnich, A Brice, and J Melki
J Med Genet 1997; 34: 507-508. doi:10.1136/jmg.34.6.507 [Abstract] [PDF] [Request Permissions]

Molecular analysis of the human vitamin D binding protein (group specific component, Gc) in tuberous sclerosis complex (TSC).
J A Rodriguez, R L Evans, S P Daiger, and H Northrup
J Med Genet 1997; 34: 509-511. doi:10.1136/jmg.34.6.509 [Abstract] [PDF] [Request Permissions]

Mosaicism for trisomy 3q arising from an unbalanced, de novo t(3;15).
R Stallings, D Vaughn, K Hall, C Joyce, F Ryan, D Barton, and M Geraghty
J Med Genet 1997; 34: 512-514. doi:10.1136/jmg.34.6.512 [Abstract] [PDF] [Request Permissions]

Delineation of 14q32.3 deletion syndrome.
A P Ortigas, C K Stein, L L Thomson, and J J Hoo
J Med Genet 1997; 34: 515-517. doi:10.1136/jmg.34.6.515 [Abstract] [PDF] [Request Permissions]

Lethal femoral-facial syndrome: a case with unusual manifestations.
Y Gillerot, C Fourneau, T Willems, and L Van Maldergem
J Med Genet 1997; 34: 518-519. doi:10.1136/jmg.34.6.518 [Abstract] [PDF] [Request Permissions]

A maternally transmitted lethal neonatal progeroid syndrome with prominent genitourinary and gastrointestinal features.
M B Delatycki, M A Cleary, A Bankier, P N McDougall, J S Ahluwalia, C W Chow, and C M Cooke-Yarborough
J Med Genet 1997; 34: 520-524. doi:10.1136/jmg.34.6.520 [Abstract] [PDF] [Request Permissions]

Methylenetetrahydrofolate reductase polymorphism and pre-eclampsia.
S Sohda, T Arinami, H Hamada, N Yamada, H Hamaguchi, and T Kubo
J Med Genet 1997; 34: 525-526. doi:10.1136/jmg.34.6.525 [Abstract] [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 >>

	Methods in Molecular Medicine: Molecular Diagnosis of Genetic Diseases E Bakker J Med Genet 1997; 34: 527. doi:10.1136/jmg.34.6.527 [PDF] [Request Permissions]

	Genetic Intervention on Human Subjects Mary J Seller J Med Genet 1997; 34: 527. doi:10.1136/jmg.34.6.527-a [PDF] [Request Permissions]

	Genomic Imprinting: Causes and Consequences Marcus Pembrey J Med Genet 1997; 34: 527-528. doi:10.1136/jmg.34.6.527-b [PDF] [Request Permissions]

	Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome. S Kang, J Allen, J M Graham, Jr, T Grebe, C Clericuzio, N Patronas, F Ondrey, E Green, A Schäffer, M Abbott, and L G Biesecker J Med Genet 1997; 34: 441-446. doi:10.1136/jmg.34.6.441 [Abstract] [PDF] [Request Permissions]

	The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1). R Morell, T B Friedman, J H Asher, Jr, and L G Robbins J Med Genet 1997; 34: 447-452. doi:10.1136/jmg.34.6.447 [Abstract] [PDF] [Request Permissions]

	Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS. A Swillen, K Devriendt, E Legius, B Eyskens, M Dumoulin, M Gewillig, and J P Fryns J Med Genet 1997; 34: 453-458. doi:10.1136/jmg.34.6.453 [Abstract] [PDF] [Request Permissions]

	The uptake and acceptability to patients of cystic fibrosis carrier testing offered in pregnancy by the GP. N E Hartley, D Scotcher, H Harris, P Williamson, A Wallace, D Craufurd, and R Harris J Med Genet 1997; 34: 459-464. doi:10.1136/jmg.34.6.459 [Abstract] [PDF] [Request Permissions]

	Arch fingerprints, hypotonia, and areflexia associated with X linked mental retardation. R E Stevenson, B Häne, J F Arena, M May, L Lawrence, H A Lubs, and C E Schwartz J Med Genet 1997; 34: 465-469. doi:10.1136/jmg.34.6.465 [Abstract] [PDF] [Request Permissions]

	Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). A Carrié, F Piccolo, F Leturcq, C de Toma, K Azibi, C Beldjord, J M Vallat, L Merlini, T Voit, C Sewry, J A Urtizberea, N Romero, F M Tomé, M Fardeau, Y Sunada, K P Campbell, J C Kaplan, and M Jeanpierre J Med Genet 1997; 34: 470-475. doi:10.1136/jmg.34.6.470 [Abstract] [PDF] [Request Permissions]

	Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD. M Upadhyaya, J Maynard, M T Rogers, P W Lunt, P Jardine, D Ravine, and P S Harper J Med Genet 1997; 34: 476-479. doi:10.1136/jmg.34.6.476 [Abstract] [PDF] [Request Permissions]

	Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome. S Lindsay, M Ireland, O O'Brien, J Clayton-Smith, J A Hurst, J Mann, T Cole, J Sampson, S Slaney, D Schlessinger, J Burn, and G Pilia J Med Genet 1997; 34: 480-483. doi:10.1136/jmg.34.6.480 [Abstract] [PDF] [Request Permissions]

	Identification of novel Bruton's tyrosine kinase mutations in 10 unrelated subjects with X linked agammaglobulinaemia. R A Brooimans, A J van den Berg, G T Rijkers, L A Sanders, J K van Amstel, M G Tilanus, M J Grubben, and B J Zegers J Med Genet 1997; 34: 484-488. doi:10.1136/jmg.34.6.484 [Abstract] [PDF] [Request Permissions]

	Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene. C von Schnakenburg and G Rumsby J Med Genet 1997; 34: 489-492. doi:10.1136/jmg.34.6.489 [Abstract] [PDF] [Request Permissions]

	Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A gene. M B Coulter-Mackie, L Gagnier, M J Beis, D A Applegarth, D E Cole, K Gordon, and M D Ludman J Med Genet 1997; 34: 493-498. doi:10.1136/jmg.34.6.493 [Abstract] [PDF] [Request Permissions]

	Pure hereditary spastic paraplegia. E Reid J Med Genet 1997; 34: 499-503. doi:10.1136/jmg.34.6.499 [PDF] [Request Permissions]

	Linkage mapping of a large Colombian family segregating for X linked retinoschisis: refinement of the chromosomal location. B S Shastry, J F Hejtmancik, A Rodriguez, F Rodriguez, and M L Tamayo J Med Genet 1997; 34: 504-506. doi:10.1136/jmg.34.6.504 [Abstract] [PDF] [Request Permissions]

	SMN gene analysis of the spinal form of Charcot-Marie-Tooth disease. A Hanash, E Leguern, N Birouk, O Clermont, J Pouget, P Bouche, A Munnich, A Brice, and J Melki J Med Genet 1997; 34: 507-508. doi:10.1136/jmg.34.6.507 [Abstract] [PDF] [Request Permissions]

	Molecular analysis of the human vitamin D binding protein (group specific component, Gc) in tuberous sclerosis complex (TSC). J A Rodriguez, R L Evans, S P Daiger, and H Northrup J Med Genet 1997; 34: 509-511. doi:10.1136/jmg.34.6.509 [Abstract] [PDF] [Request Permissions]

	Mosaicism for trisomy 3q arising from an unbalanced, de novo t(3;15). R Stallings, D Vaughn, K Hall, C Joyce, F Ryan, D Barton, and M Geraghty J Med Genet 1997; 34: 512-514. doi:10.1136/jmg.34.6.512 [Abstract] [PDF] [Request Permissions]

	Delineation of 14q32.3 deletion syndrome. A P Ortigas, C K Stein, L L Thomson, and J J Hoo J Med Genet 1997; 34: 515-517. doi:10.1136/jmg.34.6.515 [Abstract] [PDF] [Request Permissions]

	Lethal femoral-facial syndrome: a case with unusual manifestations. Y Gillerot, C Fourneau, T Willems, and L Van Maldergem J Med Genet 1997; 34: 518-519. doi:10.1136/jmg.34.6.518 [Abstract] [PDF] [Request Permissions]

	A maternally transmitted lethal neonatal progeroid syndrome with prominent genitourinary and gastrointestinal features. M B Delatycki, M A Cleary, A Bankier, P N McDougall, J S Ahluwalia, C W Chow, and C M Cooke-Yarborough J Med Genet 1997; 34: 520-524. doi:10.1136/jmg.34.6.520 [Abstract] [PDF] [Request Permissions]

	Methylenetetrahydrofolate reductase polymorphism and pre-eclampsia. S Sohda, T Arinami, H Hamada, N Yamada, H Hamaguchi, and T Kubo J Med Genet 1997; 34: 525-526. doi:10.1136/jmg.34.6.525 [Abstract] [PDF] [Request Permissions]