J Med Genet -- Table of Contents (32 [4])

Subscribe here
Activate your subscription

Home > Volume 32, Number 4

Only Abstracts and PDFs available for this issue

Other Issues:
April 1995 (Volume 32, Number 4). [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
Frances Flinter
J Med Genet 1995; 32: 324. doi:10.1136/jmg.32.4.324 [PDF] [Request Permissions]

Medical genetics: advances in brief: Parent-of-origin effects in multiple endocrine neoplasia type 2B
Frances Flinter
J Med Genet 1995; 32: 324. doi:10.1136/jmg.32.4.324-a [PDF] [Request Permissions]

Medical genetics: advances in brief: Background statement. Genetic testing and insurance
Frances Flinter
J Med Genet 1995; 32: 324. doi:10.1136/jmg.32.4.324-b [PDF] [Request Permissions]

Book Reviews

Twins as a Tool of Behavioral Genetics
Anita Thapar
J Med Genet 1995; 32: 327. doi:10.1136/jmg.32.4.327 [PDF] [Request Permissions]

Functional Neural Transplantation
John C Macmillan
J Med Genet 1995; 32: 327-328. doi:10.1136/jmg.32.4.327-a [PDF] [Request Permissions]

Inherited Disorders of the Thyroid System
Richard Trembath
J Med Genet 1995; 32: 328. doi:10.1136/jmg.32.4.328 [PDF] [Request Permissions]

Research Article

Direct marketing of cystic fibrosis carrier screening: commercial push or population need?
P S Harper
J Med Genet 1995; 32: 249-250. doi:10.1136/jmg.32.4.249 [PDF] [Request Permissions]

Leukaemia and Sellafield: is there a heritable link?
E J Tawn
J Med Genet 1995; 32: 251-256. doi:10.1136/jmg.32.4.251 [Abstract] [PDF] [Request Permissions]

A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.
L Tranebjaerg, C Schwartz, H Eriksen, S Andreasson, V Ponjavic, A Dahl, R E Stevenson, M May, F Arena, and D Barker
J Med Genet 1995; 32: 257-263. doi:10.1136/jmg.32.4.257 [Abstract] [PDF] [Request Permissions]

Alagille syndrome: family studies.
F V Elmslie, A J Vivian, H Gardiner, C Hall, A P Mowat, and R M Winter
J Med Genet 1995; 32: 264-268. doi:10.1136/jmg.32.4.264 [Abstract] [PDF] [Request Permissions]

Association study with two markers of a human homeogene in infantile autism.
E Petit, J Hérault, J Martineau, A Perrot, C Barthélémy, L Hameury, D Sauvage, G Lelord, and J P Müh
J Med Genet 1995; 32: 269-274. doi:10.1136/jmg.32.4.269 [Abstract] [PDF] [Request Permissions]

Detecting deletions in the critical region for lissencephaly on 17p13.3 using fluorescent in situ hybridisation and a PCR assay identifying a dinucleotide repeat polymorphism.
D T Pilz, A Dalton, A Long, T Jaspan, E L Maltby, and O W Quarrell
J Med Genet 1995; 32: 275-278. doi:10.1136/jmg.32.4.275 [Abstract] [PDF] [Request Permissions]

A new transthyretin variant (Ser 24) associated with familial amyloid polyneuropathy.
T Uemichi, M A Gertz, and M D Benson
J Med Genet 1995; 32: 279-281. doi:10.1136/jmg.32.4.279 [Abstract] [PDF] [Request Permissions]

Stepwise or couple antenatal carrier screening for cystic fibrosis?: women's preferences and willingness to pay.
Z Miedzybrodzka, J Semper, P Shackley, M Abdalla, and C Donaldson
J Med Genet 1995; 32: 282-283. doi:10.1136/jmg.32.4.282 [Abstract] [PDF] [Request Permissions]

Perinatal lethal osteogenesis imperfecta.
W G Cole and R Dalgleish
J Med Genet 1995; 32: 284-289. doi:10.1136/jmg.32.4.284 [Abstract] [PDF] [Request Permissions]

Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients.
C T Jones, R J Swingler, S A Simpson, and D J Brock
J Med Genet 1995; 32: 290-292. doi:10.1136/jmg.32.4.290 [Abstract] [PDF] [Request Permissions]

De novo 1;10 balanced translocation in an infant with thanatophoric dysplasia: a clue to the locus of the candidate gene.
J H Hersh, F F Yen, S C Peiper, M J Barch, O A Yacoub, D H Voss, and J L Roberts
J Med Genet 1995; 32: 293-295. doi:10.1136/jmg.32.4.293 [Abstract] [PDF] [Request Permissions]

Inversions in the factor VIII gene: improvement of carrier detection and prenatal diagnosis in Dutch haemophilia A families.
P P Deutz-Terlouw, M Losekoot, R Olmer, W C Pieneman, S de Vries-v d Weerd, E Briët, and E Bakker
J Med Genet 1995; 32: 296-300. doi:10.1136/jmg.32.4.296 [Abstract] [PDF] [Request Permissions]

Severe intrauterine growth retardation with increased mitomycin C sensitivity: a further chromosome breakage syndrome.
C G Woods, M Leversha, and J G Rogers
J Med Genet 1995; 32: 301-305. doi:10.1136/jmg.32.4.301 [Abstract] [PDF] [Request Permissions]

Partial trisomy 22 (q11.2-q13.1) as a result of duplication and pericentric inversion.
V P Prasher, E Roberts, A Norman, A C Butler, V H Krishnan, and D J McMullan
J Med Genet 1995; 32: 306-308. doi:10.1136/jmg.32.4.306 [Abstract] [PDF] [Request Permissions]

Congenital knee dislocation in a 49,XXXXY boy.
R H Sijmons, A J van Essen, J D Visser, M Iprenburg, G F Nelck, M L Vos-Bender, and B de Jong
J Med Genet 1995; 32: 309-311. doi:10.1136/jmg.32.4.309 [Abstract] [PDF] [Request Permissions]

Exclusion of RET and Pax 3 loci in Waardenburg-Hirschsprung disease.
T Attié, M Till, A Pelet, P Edery, J P Bonnet, A Munnich, and S Lyonnet
J Med Genet 1995; 32: 312-313. doi:10.1136/jmg.32.4.312 [Abstract] [PDF] [Request Permissions]

MURCS in a male?
D G Wellesley and S F Slaney
J Med Genet 1995; 32: 314-315. doi:10.1136/jmg.32.4.314 [Abstract] [PDF] [Request Permissions]

Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene.
E Legius, R Wu, M Eyssen, P Marynen, J P Fryns, and J J Cassiman
J Med Genet 1995; 32: 316-319. doi:10.1136/jmg.32.4.316 [Abstract] [PDF] [Request Permissions]

International workshop on molecular genetics of haemochromatosis, held at Villa Feltrinelli, Gargnano (Bs), Italy, 25 September 1994.
M Worwood, P Gasparini, and C Camaschella
J Med Genet 1995; 32: 320-323. doi:10.1136/jmg.32.4.320 [PDF] [Request Permissions]

Huntington's disease in Saudi Arabia.
S Bohlega, D McLean, S Omer, Z al Kawi, R A Roos, M Losekoot, and E Bakker
J Med Genet 1995; 32: 325. doi:10.1136/jmg.32.4.325 [PDF] [Request Permissions]

Different muscle specific promoter characteristics in two sibs with Duchenne muscular dystrophy.
T Kondoh, S Fujishita, N Shibuya, and T Matsumoto
J Med Genet 1995; 32: 325-326. doi:10.1136/jmg.32.4.325-a [PDF] [Request Permissions]

Autosomal dominant simple microphthalmos: incomplete penetrance and variable expression in a large family.
J P Fryns
J Med Genet 1995; 32: 326. doi:10.1136/jmg.32.4.326 [PDF] [Request Permissions]

Grebe syndrome: a very severely affected case.
M L Kulkarni, B Kumar, A Nasser, and B M Kulkarni
J Med Genet 1995; 32: 326-327. doi:10.1136/jmg.32.4.326-a [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 Frances Flinter J Med Genet 1995; 32: 324. doi:10.1136/jmg.32.4.324 [PDF] [Request Permissions]

	Medical genetics: advances in brief: Parent-of-origin effects in multiple endocrine neoplasia type 2B Frances Flinter J Med Genet 1995; 32: 324. doi:10.1136/jmg.32.4.324-a [PDF] [Request Permissions]

	Medical genetics: advances in brief: Background statement. Genetic testing and insurance Frances Flinter J Med Genet 1995; 32: 324. doi:10.1136/jmg.32.4.324-b [PDF] [Request Permissions]

	Twins as a Tool of Behavioral Genetics Anita Thapar J Med Genet 1995; 32: 327. doi:10.1136/jmg.32.4.327 [PDF] [Request Permissions]

	Functional Neural Transplantation John C Macmillan J Med Genet 1995; 32: 327-328. doi:10.1136/jmg.32.4.327-a [PDF] [Request Permissions]

	Inherited Disorders of the Thyroid System Richard Trembath J Med Genet 1995; 32: 328. doi:10.1136/jmg.32.4.328 [PDF] [Request Permissions]

	Direct marketing of cystic fibrosis carrier screening: commercial push or population need? P S Harper J Med Genet 1995; 32: 249-250. doi:10.1136/jmg.32.4.249 [PDF] [Request Permissions]

	Leukaemia and Sellafield: is there a heritable link? E J Tawn J Med Genet 1995; 32: 251-256. doi:10.1136/jmg.32.4.251 [Abstract] [PDF] [Request Permissions]

	A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. L Tranebjaerg, C Schwartz, H Eriksen, S Andreasson, V Ponjavic, A Dahl, R E Stevenson, M May, F Arena, and D Barker J Med Genet 1995; 32: 257-263. doi:10.1136/jmg.32.4.257 [Abstract] [PDF] [Request Permissions]

	Alagille syndrome: family studies. F V Elmslie, A J Vivian, H Gardiner, C Hall, A P Mowat, and R M Winter J Med Genet 1995; 32: 264-268. doi:10.1136/jmg.32.4.264 [Abstract] [PDF] [Request Permissions]

	Association study with two markers of a human homeogene in infantile autism. E Petit, J Hérault, J Martineau, A Perrot, C Barthélémy, L Hameury, D Sauvage, G Lelord, and J P Müh J Med Genet 1995; 32: 269-274. doi:10.1136/jmg.32.4.269 [Abstract] [PDF] [Request Permissions]

	Detecting deletions in the critical region for lissencephaly on 17p13.3 using fluorescent in situ hybridisation and a PCR assay identifying a dinucleotide repeat polymorphism. D T Pilz, A Dalton, A Long, T Jaspan, E L Maltby, and O W Quarrell J Med Genet 1995; 32: 275-278. doi:10.1136/jmg.32.4.275 [Abstract] [PDF] [Request Permissions]

	A new transthyretin variant (Ser 24) associated with familial amyloid polyneuropathy. T Uemichi, M A Gertz, and M D Benson J Med Genet 1995; 32: 279-281. doi:10.1136/jmg.32.4.279 [Abstract] [PDF] [Request Permissions]

	Stepwise or couple antenatal carrier screening for cystic fibrosis?: women's preferences and willingness to pay. Z Miedzybrodzka, J Semper, P Shackley, M Abdalla, and C Donaldson J Med Genet 1995; 32: 282-283. doi:10.1136/jmg.32.4.282 [Abstract] [PDF] [Request Permissions]

	Perinatal lethal osteogenesis imperfecta. W G Cole and R Dalgleish J Med Genet 1995; 32: 284-289. doi:10.1136/jmg.32.4.284 [Abstract] [PDF] [Request Permissions]

	Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients. C T Jones, R J Swingler, S A Simpson, and D J Brock J Med Genet 1995; 32: 290-292. doi:10.1136/jmg.32.4.290 [Abstract] [PDF] [Request Permissions]

	De novo 1;10 balanced translocation in an infant with thanatophoric dysplasia: a clue to the locus of the candidate gene. J H Hersh, F F Yen, S C Peiper, M J Barch, O A Yacoub, D H Voss, and J L Roberts J Med Genet 1995; 32: 293-295. doi:10.1136/jmg.32.4.293 [Abstract] [PDF] [Request Permissions]

	Inversions in the factor VIII gene: improvement of carrier detection and prenatal diagnosis in Dutch haemophilia A families. P P Deutz-Terlouw, M Losekoot, R Olmer, W C Pieneman, S de Vries-v d Weerd, E Briët, and E Bakker J Med Genet 1995; 32: 296-300. doi:10.1136/jmg.32.4.296 [Abstract] [PDF] [Request Permissions]

	Severe intrauterine growth retardation with increased mitomycin C sensitivity: a further chromosome breakage syndrome. C G Woods, M Leversha, and J G Rogers J Med Genet 1995; 32: 301-305. doi:10.1136/jmg.32.4.301 [Abstract] [PDF] [Request Permissions]

	Partial trisomy 22 (q11.2-q13.1) as a result of duplication and pericentric inversion. V P Prasher, E Roberts, A Norman, A C Butler, V H Krishnan, and D J McMullan J Med Genet 1995; 32: 306-308. doi:10.1136/jmg.32.4.306 [Abstract] [PDF] [Request Permissions]

	Congenital knee dislocation in a 49,XXXXY boy. R H Sijmons, A J van Essen, J D Visser, M Iprenburg, G F Nelck, M L Vos-Bender, and B de Jong J Med Genet 1995; 32: 309-311. doi:10.1136/jmg.32.4.309 [Abstract] [PDF] [Request Permissions]

	Exclusion of RET and Pax 3 loci in Waardenburg-Hirschsprung disease. T Attié, M Till, A Pelet, P Edery, J P Bonnet, A Munnich, and S Lyonnet J Med Genet 1995; 32: 312-313. doi:10.1136/jmg.32.4.312 [Abstract] [PDF] [Request Permissions]

	MURCS in a male? D G Wellesley and S F Slaney J Med Genet 1995; 32: 314-315. doi:10.1136/jmg.32.4.314 [Abstract] [PDF] [Request Permissions]

	Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene. E Legius, R Wu, M Eyssen, P Marynen, J P Fryns, and J J Cassiman J Med Genet 1995; 32: 316-319. doi:10.1136/jmg.32.4.316 [Abstract] [PDF] [Request Permissions]

	International workshop on molecular genetics of haemochromatosis, held at Villa Feltrinelli, Gargnano (Bs), Italy, 25 September 1994. M Worwood, P Gasparini, and C Camaschella J Med Genet 1995; 32: 320-323. doi:10.1136/jmg.32.4.320 [PDF] [Request Permissions]

	Huntington's disease in Saudi Arabia. S Bohlega, D McLean, S Omer, Z al Kawi, R A Roos, M Losekoot, and E Bakker J Med Genet 1995; 32: 325. doi:10.1136/jmg.32.4.325 [PDF] [Request Permissions]

	Different muscle specific promoter characteristics in two sibs with Duchenne muscular dystrophy. T Kondoh, S Fujishita, N Shibuya, and T Matsumoto J Med Genet 1995; 32: 325-326. doi:10.1136/jmg.32.4.325-a [PDF] [Request Permissions]

	Autosomal dominant simple microphthalmos: incomplete penetrance and variable expression in a large family. J P Fryns J Med Genet 1995; 32: 326. doi:10.1136/jmg.32.4.326 [PDF] [Request Permissions]

	Grebe syndrome: a very severely affected case. M L Kulkarni, B Kumar, A Nasser, and B M Kulkarni J Med Genet 1995; 32: 326-327. doi:10.1136/jmg.32.4.326-a [PDF] [Request Permissions]