J Med Genet -- Table of Contents (26 [5])

Subscribe here
Activate your subscription

Home > Volume 26, Number 5

Only Abstracts and PDFs available for this issue

Other Issues:
May 1989 (Volume 26, Number 5). [Index by author]

		Book Reviews Research Article

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

Table of Contents (PDF) | Cover (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

Mapping our Genes. Genome Projects: How Big, How Fast?
S Povey
J Med Genet 1989; 26: 350. doi:10.1136/jmg.26.5.350 [PDF] [Request Permissions]

Inherited Disorders of the Skeleton
I D Young
J Med Genet 1989; 26: 350. doi:10.1136/jmg.26.5.350-a [PDF] [Request Permissions]

Textbook of Human Genetics
Andrew P Read
J Med Genet 1989; 26: 351. doi:10.1136/jmg.26.5.351 [PDF] [Request Permissions]

The Status of the Human Embryo: Perspectives from Moral Tradition
Rodney Harris
J Med Genet 1989; 26: 351-352. doi:10.1136/jmg.26.5.351-a [PDF] [Request Permissions]

Heterochromatin: Molecular and Structural Aspects
Ann C Chandley
J Med Genet 1989; 26: 352. doi:10.1136/jmg.26.5.352 [PDF] [Request Permissions]

Research Article

A new syndrome of autosomal recessive nephropathy, deafness, and hyperparathyroidism.
B D Edwards, M A Patton, S A Dilly, and J B Eastwood
J Med Genet 1989; 26: 289-293. doi:10.1136/jmg.26.5.289 [Abstract] [PDF] [Request Permissions]

Fertility in a male with trisomy 21.
R Sheridan, J Llerena, Jr, S Matkins, P Debenham, A Cawood, and M Bobrow
J Med Genet 1989; 26: 294-298. doi:10.1136/jmg.26.5.294 [Abstract] [PDF] [Request Permissions]

Benign muscular dystrophy: risk calculation in families with consanguinity.
G Wolff, C R Müller, and T Grimm
J Med Genet 1989; 26: 299-304. doi:10.1136/jmg.26.5.299 [Abstract] [PDF] [Request Permissions]

X linked or autosomal recessive? A new approach to an old problem.
A P Read
J Med Genet 1989; 26: 305-308. doi:10.1136/jmg.26.5.305 [Abstract] [PDF] [Request Permissions]

Further evidence localising the gene for Hunter's syndrome to the distal region of the X chromosome long arm.
S H Roberts, M Upadhyaya, M Sarfarazi, and P S Harper
J Med Genet 1989; 26: 309-313. doi:10.1136/jmg.26.5.309 [Abstract] [PDF] [Request Permissions]

Exclusion of the COL2A1 gene as the mutation site in diastrophic dysplasia.
K Elima, I Kaitila, L Mikonoja, U Elonsalo, L Peltonen, and E Vuorio
J Med Genet 1989; 26: 314-319. doi:10.1136/jmg.26.5.314 [Abstract] [PDF] [Request Permissions]

Moore-Federman syndrome and acromicric dysplasia: are they the same entity?
R M Winter, M A Patton, J Challener, R F Mueller, and M Baraitser
J Med Genet 1989; 26: 320-325. doi:10.1136/jmg.26.5.320 [Abstract] [PDF] [Request Permissions]

Neural tube defect recurrence after 'partial' vitamin supplementation.
S Sheppard, N C Nevin, M J Seller, J Wild, R W Smithells, A P Read, R Harris, D W Fielding, and C J Schorah
J Med Genet 1989; 26: 326-329. doi:10.1136/jmg.26.5.326 [Abstract] [PDF] [Request Permissions]

Y chromosome specific probes identify breakpoint in a 45,X/46,X,del(Y)(pter----q11.1:) karyotype of an infertile male.
G C Beverstock, J D MacFarlane, H Veenema, H Hoekman, and P J Goodfellow
J Med Genet 1989; 26: 330-333. doi:10.1136/jmg.26.5.330 [Abstract] [PDF] [Request Permissions]

Toluene embryopathy: two new cases.
J H Hersh
J Med Genet 1989; 26: 333-337. doi:10.1136/jmg.26.5.333 [Abstract] [PDF] [Request Permissions]

Synchrony of oculocutaneous albinism, the Prader-Willi syndrome, and a normal karyotype.
C E Wallis and P H Beighton
J Med Genet 1989; 26: 337-339. doi:10.1136/jmg.26.5.337 [Abstract] [PDF] [Request Permissions]

A new recessive syndrome of unusual facies, digital abnormalities, and ichthyosis.
J Clayton-Smith and D Donnai
J Med Genet 1989; 26: 339-342. doi:10.1136/jmg.26.5.339 [Abstract] [PDF] [Request Permissions]

Deletion (12)(q15q21.2).
M S Watson, L McAllister-Barton, M J Mahoney, and W R Breg
J Med Genet 1989; 26: 343-344. doi:10.1136/jmg.26.5.343 [PDF] [Request Permissions]

A third case of de novo partial trisomy 4p.
J W Oorthuys, K B Gerssen-Schoorl, J M de Pater, and H F de France
J Med Genet 1989; 26: 344-345. doi:10.1136/jmg.26.5.344 [PDF] [Request Permissions]

Short rib syndrome without polydactyly.
K Chen, P A McKeever, and I D Young
J Med Genet 1989; 26: 346-347. doi:10.1136/jmg.26.5.346 [PDF] [Request Permissions]

Van der Woude syndrome and limb defects: the chance of recurrence.
A Lipson
J Med Genet 1989; 26: 347-348. doi:10.1136/jmg.26.5.347 [PDF] [Request Permissions]

Fetal valproate phenotype is recognisable by mid pregnancy.
F Serville, D Carles, S Guibaud, and D Dallay
J Med Genet 1989; 26: 348-349. doi:10.1136/jmg.26.5.348 [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 >>

	Mapping our Genes. Genome Projects: How Big, How Fast? S Povey J Med Genet 1989; 26: 350. doi:10.1136/jmg.26.5.350 [PDF] [Request Permissions]

	Inherited Disorders of the Skeleton I D Young J Med Genet 1989; 26: 350. doi:10.1136/jmg.26.5.350-a [PDF] [Request Permissions]

	Textbook of Human Genetics Andrew P Read J Med Genet 1989; 26: 351. doi:10.1136/jmg.26.5.351 [PDF] [Request Permissions]

	The Status of the Human Embryo: Perspectives from Moral Tradition Rodney Harris J Med Genet 1989; 26: 351-352. doi:10.1136/jmg.26.5.351-a [PDF] [Request Permissions]

	Heterochromatin: Molecular and Structural Aspects Ann C Chandley J Med Genet 1989; 26: 352. doi:10.1136/jmg.26.5.352 [PDF] [Request Permissions]

	A new syndrome of autosomal recessive nephropathy, deafness, and hyperparathyroidism. B D Edwards, M A Patton, S A Dilly, and J B Eastwood J Med Genet 1989; 26: 289-293. doi:10.1136/jmg.26.5.289 [Abstract] [PDF] [Request Permissions]

	Fertility in a male with trisomy 21. R Sheridan, J Llerena, Jr, S Matkins, P Debenham, A Cawood, and M Bobrow J Med Genet 1989; 26: 294-298. doi:10.1136/jmg.26.5.294 [Abstract] [PDF] [Request Permissions]

	Benign muscular dystrophy: risk calculation in families with consanguinity. G Wolff, C R Müller, and T Grimm J Med Genet 1989; 26: 299-304. doi:10.1136/jmg.26.5.299 [Abstract] [PDF] [Request Permissions]

	X linked or autosomal recessive? A new approach to an old problem. A P Read J Med Genet 1989; 26: 305-308. doi:10.1136/jmg.26.5.305 [Abstract] [PDF] [Request Permissions]

	Further evidence localising the gene for Hunter's syndrome to the distal region of the X chromosome long arm. S H Roberts, M Upadhyaya, M Sarfarazi, and P S Harper J Med Genet 1989; 26: 309-313. doi:10.1136/jmg.26.5.309 [Abstract] [PDF] [Request Permissions]

	Exclusion of the COL2A1 gene as the mutation site in diastrophic dysplasia. K Elima, I Kaitila, L Mikonoja, U Elonsalo, L Peltonen, and E Vuorio J Med Genet 1989; 26: 314-319. doi:10.1136/jmg.26.5.314 [Abstract] [PDF] [Request Permissions]

	Moore-Federman syndrome and acromicric dysplasia: are they the same entity? R M Winter, M A Patton, J Challener, R F Mueller, and M Baraitser J Med Genet 1989; 26: 320-325. doi:10.1136/jmg.26.5.320 [Abstract] [PDF] [Request Permissions]

	Neural tube defect recurrence after 'partial' vitamin supplementation. S Sheppard, N C Nevin, M J Seller, J Wild, R W Smithells, A P Read, R Harris, D W Fielding, and C J Schorah J Med Genet 1989; 26: 326-329. doi:10.1136/jmg.26.5.326 [Abstract] [PDF] [Request Permissions]

	Y chromosome specific probes identify breakpoint in a 45,X/46,X,del(Y)(pter----q11.1:) karyotype of an infertile male. G C Beverstock, J D MacFarlane, H Veenema, H Hoekman, and P J Goodfellow J Med Genet 1989; 26: 330-333. doi:10.1136/jmg.26.5.330 [Abstract] [PDF] [Request Permissions]

	Toluene embryopathy: two new cases. J H Hersh J Med Genet 1989; 26: 333-337. doi:10.1136/jmg.26.5.333 [Abstract] [PDF] [Request Permissions]

	Synchrony of oculocutaneous albinism, the Prader-Willi syndrome, and a normal karyotype. C E Wallis and P H Beighton J Med Genet 1989; 26: 337-339. doi:10.1136/jmg.26.5.337 [Abstract] [PDF] [Request Permissions]

	A new recessive syndrome of unusual facies, digital abnormalities, and ichthyosis. J Clayton-Smith and D Donnai J Med Genet 1989; 26: 339-342. doi:10.1136/jmg.26.5.339 [Abstract] [PDF] [Request Permissions]

	Deletion (12)(q15q21.2). M S Watson, L McAllister-Barton, M J Mahoney, and W R Breg J Med Genet 1989; 26: 343-344. doi:10.1136/jmg.26.5.343 [PDF] [Request Permissions]

	A third case of de novo partial trisomy 4p. J W Oorthuys, K B Gerssen-Schoorl, J M de Pater, and H F de France J Med Genet 1989; 26: 344-345. doi:10.1136/jmg.26.5.344 [PDF] [Request Permissions]

	Short rib syndrome without polydactyly. K Chen, P A McKeever, and I D Young J Med Genet 1989; 26: 346-347. doi:10.1136/jmg.26.5.346 [PDF] [Request Permissions]

	Van der Woude syndrome and limb defects: the chance of recurrence. A Lipson J Med Genet 1989; 26: 347-348. doi:10.1136/jmg.26.5.347 [PDF] [Request Permissions]

	Fetal valproate phenotype is recognisable by mid pregnancy. F Serville, D Carles, S Guibaud, and D Dallay J Med Genet 1989; 26: 348-349. doi:10.1136/jmg.26.5.348 [PDF] [Request Permissions]