J Med Genet -- Table of Contents (33 [5])

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May 1996 (Volume 33, Number 5). [Index by author]

		Book Review Research Article

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Book Review

Gene Cloning and Manipulation
Simon Ramsden
J Med Genet 1996; 33: 440. doi:10.1136/jmg.33.5.440 [PDF] [Request Permissions]

Research Article

Localisation of two candidate genes for mental retardation using a YAC physical map of the Xq21.1-21.2 subbands.
L Colleaux, M May, J Belougne, D Lepaslier, C Schwartz, and M Fontes
J Med Genet 1996; 33: 353-357. doi:10.1136/jmg.33.5.353 [Abstract] [PDF] [Request Permissions]

Mutation analysis in 24 French patients with glycogen storage disease type 1a.
F Chevalier-Porst, D Bozon, A M Bonardot, N Bruni, G Mithieux, M Mathieu, and I Maire
J Med Genet 1996; 33: 358-360. doi:10.1136/jmg.33.5.358 [Abstract] [PDF] [Request Permissions]

Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD).
G Deidda, S Cacurri, N Piazzo, and L Felicetti
J Med Genet 1996; 33: 361-365. doi:10.1136/jmg.33.5.361 [Abstract] [PDF] [Request Permissions]

Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy.
R Tupler, A Berardinelli, L Barbierato, R Frants, J E Hewitt, G Lanzi, P Maraschio, and L Tiepolo
J Med Genet 1996; 33: 366-370. doi:10.1136/jmg.33.5.366 [Abstract] [PDF] [Request Permissions]

Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia.
H H Lee, H T Chao, H T Ng, and K B Choo
J Med Genet 1996; 33: 371-375. doi:10.1136/jmg.33.5.371 [Abstract] [PDF] [Request Permissions]

FMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male.
Z Wang, A K Taylor, and J A Bridge
J Med Genet 1996; 33: 376-378. doi:10.1136/jmg.33.5.376 [Abstract] [PDF] [Request Permissions]

First experiences with genetic counselling based on predictive DNA diagnosis in hereditary glomus tumours (paragangliomas).
J C Oosterwijk, J C Jansen, E M van Schothorst, A W Oosterhof, P Devilee, E Bakker, M W Zoeteweij, and A G van der Mey
J Med Genet 1996; 33: 379-383. doi:10.1136/jmg.33.5.379 [Abstract] [PDF] [Request Permissions]

A novel deletion at codon 441 of the APC gene associated with ophthalmic lesions (CHRPE) in a South African family.
J J Grobbelaar, A Ziskind, G de Jong, C J Oosthuizen, and M J Kotze
J Med Genet 1996; 33: 384-386. doi:10.1136/jmg.33.5.384 [Abstract] [PDF] [Request Permissions]

Cytogenetic and epidemiological findings in Down syndrome, England and Wales 1989 to 1993. National Down Syndrome Cytogenetic Register and the Association of Clinical Cytogeneticists.
D Mutton, E Alberman, and E B Hook
J Med Genet 1996; 33: 387-394. doi:10.1136/jmg.33.5.387 [Abstract] [PDF] [Request Permissions]

Breakpoints in alpha, beta, and satellite III DNA sequences of chromosome 9 result in a variety of pericentric inversions.
K H Ramesh and R S Verma
J Med Genet 1996; 33: 395-398. doi:10.1136/jmg.33.5.395 [Abstract] [PDF] [Request Permissions]

Small extra ring chromosome derived from chromosome 10p: clinical report and characterisation by FISH.
E Blennow and E Tillberg
J Med Genet 1996; 33: 399-402. doi:10.1136/jmg.33.5.399 [Abstract] [PDF] [Request Permissions]

Marfan syndrome.
J R Gray and S J Davies
J Med Genet 1996; 33: 403-408. doi:10.1136/jmg.33.5.403 [PDF] [Request Permissions]

Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation.
R Torra, L Alós, J Ramos, and X Estivill
J Med Genet 1996; 33: 409-412. doi:10.1136/jmg.33.5.409 [Abstract] [PDF] [Request Permissions]

Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease.
A Oterino, F I Montón, V M Cabrera, F Pinto, A Gonzalez, and N R Lavilla
J Med Genet 1996; 33: 413-415. doi:10.1136/jmg.33.5.413 [Abstract] [PDF] [Request Permissions]

Orocardiodigital syndrome: an oral-facial-digital type II variant associated with atrioventricular canal.
M C Digilio, B Marino, A Giannotti, and B Dallapiccola
J Med Genet 1996; 33: 416-418. doi:10.1136/jmg.33.5.416 [Abstract] [PDF] [Request Permissions]

Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome.
P Nicolaides, R E Appleton, and A Fryer
J Med Genet 1996; 33: 419-421. doi:10.1136/jmg.33.5.419 [Abstract] [PDF] [Request Permissions]

A boy with developmental delay and a maternally inherited deletion in 15q11q13.
M King, C Hardy, B Asenbauer, M Kilpatrick, and T Webb
J Med Genet 1996; 33: 422-425. doi:10.1136/jmg.33.5.422 [Abstract] [PDF] [Request Permissions]

Mirror hands and feet: a further case of Laurin-Sandrow syndrome.
E Hatchwell and N Dennis
J Med Genet 1996; 33: 426-428. doi:10.1136/jmg.33.5.426 [Abstract] [PDF] [Request Permissions]

A new case of fibrochondrogenesis from Spain.
M L Martínez-Frías, A García, J Cuevas, J I Rodríguez, and M Urioste
J Med Genet 1996; 33: 429-431. doi:10.1136/jmg.33.5.429 [Abstract] [PDF] [Request Permissions]

Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia.
L E Bernard, D Chitayat, R Weksberg, M I Van Allen, and S Langlois
J Med Genet 1996; 33: 432-434. doi:10.1136/jmg.33.5.432 [Abstract] [PDF] [Request Permissions]

Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis.
F V Elmslie, S M Hutchings, V Spencer, A Curtis, T Covanis, R M Gardiner, and M Rees
J Med Genet 1996; 33: 435-436. doi:10.1136/jmg.33.5.435 [Abstract] [PDF] [Request Permissions]

Acute intermittent porphyria caused by defective splicing of porphobilinogen deaminase RNA: a synonymous codon mutation at -22 bp from the 5' splice site causes skipping of exon 3.
D H Llewellyn, G A Scobie, A J Urquhart, S D Whatley, A G Roberts, P R Harrison, and G H Elder
J Med Genet 1996; 33: 437-438. doi:10.1136/jmg.33.5.437 [Abstract] [PDF] [Request Permissions]

Different origins of mutations at the Machado-Joseph locus (MJD1)
P Iughetti, M Zatz, M R Bueno, and S K Marie
J Med Genet 1996; 33: 439. doi:10.1136/jmg.33.5.439 [PDF] [Request Permissions]

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	Gene Cloning and Manipulation Simon Ramsden J Med Genet 1996; 33: 440. doi:10.1136/jmg.33.5.440 [PDF] [Request Permissions]

	Localisation of two candidate genes for mental retardation using a YAC physical map of the Xq21.1-21.2 subbands. L Colleaux, M May, J Belougne, D Lepaslier, C Schwartz, and M Fontes J Med Genet 1996; 33: 353-357. doi:10.1136/jmg.33.5.353 [Abstract] [PDF] [Request Permissions]

	Mutation analysis in 24 French patients with glycogen storage disease type 1a. F Chevalier-Porst, D Bozon, A M Bonardot, N Bruni, G Mithieux, M Mathieu, and I Maire J Med Genet 1996; 33: 358-360. doi:10.1136/jmg.33.5.358 [Abstract] [PDF] [Request Permissions]

	Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD). G Deidda, S Cacurri, N Piazzo, and L Felicetti J Med Genet 1996; 33: 361-365. doi:10.1136/jmg.33.5.361 [Abstract] [PDF] [Request Permissions]

	Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy. R Tupler, A Berardinelli, L Barbierato, R Frants, J E Hewitt, G Lanzi, P Maraschio, and L Tiepolo J Med Genet 1996; 33: 366-370. doi:10.1136/jmg.33.5.366 [Abstract] [PDF] [Request Permissions]

	Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia. H H Lee, H T Chao, H T Ng, and K B Choo J Med Genet 1996; 33: 371-375. doi:10.1136/jmg.33.5.371 [Abstract] [PDF] [Request Permissions]

	FMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male. Z Wang, A K Taylor, and J A Bridge J Med Genet 1996; 33: 376-378. doi:10.1136/jmg.33.5.376 [Abstract] [PDF] [Request Permissions]

	First experiences with genetic counselling based on predictive DNA diagnosis in hereditary glomus tumours (paragangliomas). J C Oosterwijk, J C Jansen, E M van Schothorst, A W Oosterhof, P Devilee, E Bakker, M W Zoeteweij, and A G van der Mey J Med Genet 1996; 33: 379-383. doi:10.1136/jmg.33.5.379 [Abstract] [PDF] [Request Permissions]

	A novel deletion at codon 441 of the APC gene associated with ophthalmic lesions (CHRPE) in a South African family. J J Grobbelaar, A Ziskind, G de Jong, C J Oosthuizen, and M J Kotze J Med Genet 1996; 33: 384-386. doi:10.1136/jmg.33.5.384 [Abstract] [PDF] [Request Permissions]

	Cytogenetic and epidemiological findings in Down syndrome, England and Wales 1989 to 1993. National Down Syndrome Cytogenetic Register and the Association of Clinical Cytogeneticists. D Mutton, E Alberman, and E B Hook J Med Genet 1996; 33: 387-394. doi:10.1136/jmg.33.5.387 [Abstract] [PDF] [Request Permissions]

	Breakpoints in alpha, beta, and satellite III DNA sequences of chromosome 9 result in a variety of pericentric inversions. K H Ramesh and R S Verma J Med Genet 1996; 33: 395-398. doi:10.1136/jmg.33.5.395 [Abstract] [PDF] [Request Permissions]

	Small extra ring chromosome derived from chromosome 10p: clinical report and characterisation by FISH. E Blennow and E Tillberg J Med Genet 1996; 33: 399-402. doi:10.1136/jmg.33.5.399 [Abstract] [PDF] [Request Permissions]

	Marfan syndrome. J R Gray and S J Davies J Med Genet 1996; 33: 403-408. doi:10.1136/jmg.33.5.403 [PDF] [Request Permissions]

	Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation. R Torra, L Alós, J Ramos, and X Estivill J Med Genet 1996; 33: 409-412. doi:10.1136/jmg.33.5.409 [Abstract] [PDF] [Request Permissions]

	Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease. A Oterino, F I Montón, V M Cabrera, F Pinto, A Gonzalez, and N R Lavilla J Med Genet 1996; 33: 413-415. doi:10.1136/jmg.33.5.413 [Abstract] [PDF] [Request Permissions]

	Orocardiodigital syndrome: an oral-facial-digital type II variant associated with atrioventricular canal. M C Digilio, B Marino, A Giannotti, and B Dallapiccola J Med Genet 1996; 33: 416-418. doi:10.1136/jmg.33.5.416 [Abstract] [PDF] [Request Permissions]

	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome. P Nicolaides, R E Appleton, and A Fryer J Med Genet 1996; 33: 419-421. doi:10.1136/jmg.33.5.419 [Abstract] [PDF] [Request Permissions]

	A boy with developmental delay and a maternally inherited deletion in 15q11q13. M King, C Hardy, B Asenbauer, M Kilpatrick, and T Webb J Med Genet 1996; 33: 422-425. doi:10.1136/jmg.33.5.422 [Abstract] [PDF] [Request Permissions]

	Mirror hands and feet: a further case of Laurin-Sandrow syndrome. E Hatchwell and N Dennis J Med Genet 1996; 33: 426-428. doi:10.1136/jmg.33.5.426 [Abstract] [PDF] [Request Permissions]

	A new case of fibrochondrogenesis from Spain. M L Martínez-Frías, A García, J Cuevas, J I Rodríguez, and M Urioste J Med Genet 1996; 33: 429-431. doi:10.1136/jmg.33.5.429 [Abstract] [PDF] [Request Permissions]

	Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia. L E Bernard, D Chitayat, R Weksberg, M I Van Allen, and S Langlois J Med Genet 1996; 33: 432-434. doi:10.1136/jmg.33.5.432 [Abstract] [PDF] [Request Permissions]

	Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis. F V Elmslie, S M Hutchings, V Spencer, A Curtis, T Covanis, R M Gardiner, and M Rees J Med Genet 1996; 33: 435-436. doi:10.1136/jmg.33.5.435 [Abstract] [PDF] [Request Permissions]

	Acute intermittent porphyria caused by defective splicing of porphobilinogen deaminase RNA: a synonymous codon mutation at -22 bp from the 5' splice site causes skipping of exon 3. D H Llewellyn, G A Scobie, A J Urquhart, S D Whatley, A G Roberts, P R Harrison, and G H Elder J Med Genet 1996; 33: 437-438. doi:10.1136/jmg.33.5.437 [Abstract] [PDF] [Request Permissions]

	Different origins of mutations at the Machado-Joseph locus (MJD1) P Iughetti, M Zatz, M R Bueno, and S K Marie J Med Genet 1996; 33: 439. doi:10.1136/jmg.33.5.439 [PDF] [Request Permissions]