J Med Genet -- Table of Contents (31 [5])

Subscribe here
Activate your subscription

Home > Volume 31, Number 5

Only Abstracts and PDFs available for this issue

Other Issues:
May 1994 (Volume 31, Number 5). [Index by author]

		Book Reviews Editorial Note 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.

Book Reviews

If I am to be Remembered. The Life and Work of Julian Huxley with Selected Correspondence
Alan Emery
J Med Genet 1994; 31: 426. doi:10.1136/jmg.31.5.426-a [PDF] [Request Permissions]

Preconception and Preimplantation Diagnosis of Human Genetic Disease
Marilyn Monk
J Med Genet 1994; 31: 426-427. doi:10.1136/jmg.31.5.426-b [PDF] [Request Permissions]

The Molecular and Genetic Basis of Neurological Disease
John Macmillan
J Med Genet 1994; 31: 427. doi:10.1136/jmg.31.5.427 [PDF] [Request Permissions]

Editorial Note

Indexing Journal of Medical Genetics
Doreen Blake
J Med Genet 1994; 31: 428. doi:10.1136/jmg.31.5.428 [PDF] [Request Permissions]

Research Article

Geographical distribution of TTR met30 carriers in northern Sweden: discrepancy between carrier frequency and prevalence rate.
G Holmgren, P M Costa, C Andersson, K Asplund, L Steen, L Beckman, P O Nylander, A Teixeira, M J Saraiva, and P P Costa
J Med Genet 1994; 31: 351-354. doi:10.1136/jmg.31.5.351 [Abstract] [PDF] [Request Permissions]

A point mutation in the human serum albumin gene results in familial dysalbuminaemic hyperthyroxinaemia.
C E Petersen, A G Scottolini, L R Cody, M Mandel, N Reimer, and N V Bhagavan
J Med Genet 1994; 31: 355-359. doi:10.1136/jmg.31.5.355 [Abstract] [PDF] [Request Permissions]

Aspartylglucosaminuria in northern Norway: a molecular and genealogical study.
O K Tollersrud, O Nilssen, L Tranebjaerg, and O Borud
J Med Genet 1994; 31: 360-363. doi:10.1136/jmg.31.5.360 [Abstract] [PDF] [Request Permissions]

The impact of population based screening for carriers of cystic fibrosis.
H Bekker, G Denniss, M Modell, M Bobrow, and T Marteau
J Med Genet 1994; 31: 364-368. doi:10.1136/jmg.31.5.364 [Abstract] [PDF] [Request Permissions]

A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: description and clinical data.
M Chillón, T Casals, J Giménez, V Nunes, and X Estivill
J Med Genet 1994; 31: 369-370. doi:10.1136/jmg.31.5.369 [Abstract] [PDF] [Request Permissions]

New X linked spondyloepimetaphyseal dysplasia: report on eight affected males in the same family.
G Camera, G Stella, and A Camera
J Med Genet 1994; 31: 371-376. doi:10.1136/jmg.31.5.371 [Abstract] [PDF] [Request Permissions]

Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset.
Y Trottier, V Biancalana, and J L Mandel
J Med Genet 1994; 31: 377-382. doi:10.1136/jmg.31.5.377 [Abstract] [PDF] [Request Permissions]

Female predisposition to cranial neural tube defects is not because of a difference between the sexes in the rate of embryonic growth or development during neurulation.
F A Brook, J P Estibeiro, and A J Copp
J Med Genet 1994; 31: 383-387. doi:10.1136/jmg.31.5.383 [Abstract] [PDF] [Request Permissions]

Molecular evidence for non-penetrance in Best's disease.
B H Weber, D Walker, and B Müller
J Med Genet 1994; 31: 388-392. doi:10.1136/jmg.31.5.388 [Abstract] [PDF] [Request Permissions]

Saethre-Chotzen syndrome.
W Reardon and R M Winter
J Med Genet 1994; 31: 393-396. doi:10.1136/jmg.31.5.393 [PDF] [Request Permissions]

A case of paternally inherited congenital myotonic dystrophy.
M Nakagawa, H Yamada, I Higuchi, Y Kaminishi, T Miki, K Johnson, and M Osame
J Med Genet 1994; 31: 397-400. doi:10.1136/jmg.31.5.397 [Abstract] [PDF] [Request Permissions]

Molecular characterisation of type 1 Gaucher disease families and patients: intrafamilial heterogeneity at the clinical level.
O Amaral, A M Fortuna, L Lacerda, R Pinto, and M C Sa Miranda
J Med Genet 1994; 31: 401-404. doi:10.1136/jmg.31.5.401 [Abstract] [PDF] [Request Permissions]

A syndrome of hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion.
Q H Qazi, D Markouizos, C Rao, T Sheikh, E Beller, and R Kula
J Med Genet 1994; 31: 405-409. doi:10.1136/jmg.31.5.405 [Abstract] [PDF] [Request Permissions]

Laurin-Sandrow syndrome (mirror hands and feet and nasal defects): description of a new case.
M L Martínez-Frías, M Alcaraz, P Espejo, M A Gómez, R García de León, and L González Moro
J Med Genet 1994; 31: 410-412. doi:10.1136/jmg.31.5.410 [Abstract] [PDF] [Request Permissions]

Partial monosomy of 7q32 in a case of de novo rcp(7;15)(q32;q15).
E D'Alessandro, C Ligas, M L Lo Re, M P Marcanio, T Gentile, and G Del Porto
J Med Genet 1994; 31: 413-415. doi:10.1136/jmg.31.5.413 [Abstract] [PDF] [Request Permissions]

Amyloid polyneuropathy in two German-American families: a new transthyretin variant (Val 107).
T Uemichi, M A Gertz, and M D Benson
J Med Genet 1994; 31: 416-417. doi:10.1136/jmg.31.5.416 [Abstract] [PDF] [Request Permissions]

Trisomy 18 and trisomy 21 mosaicism in a Down's syndrome patient.
I M Thomas, R Sayee, L Shavanthi, and H Sridevi
J Med Genet 1994; 31: 418-419. doi:10.1136/jmg.31.5.418 [Abstract] [PDF] [Request Permissions]

Genetics in art.
A E Emery and M Emery
J Med Genet 1994; 31: 420-422. doi:10.1136/jmg.31.5.420 [PDF] [Request Permissions]

Drug induced VATER association: is dibenzepin a possible cause?
P Merlob and N Naor
J Med Genet 1994; 31: 423. doi:10.1136/jmg.31.5.423 [PDF] [Request Permissions]

Kyphomelic dysplasia.
M A O'Reilly and C M Hall
J Med Genet 1994; 31: 423. doi:10.1136/jmg.31.5.423-a [PDF] [Request Permissions]

Velocardiofacial syndrome and DiGeorge sequence.
R J Shprintzen
J Med Genet 1994; 31: 423-424. doi:10.1136/jmg.31.5.423-b [PDF] [Request Permissions]

Multiple origins of X chromosome tetrasomy.
W P Robinson, F Binkert, A A Schinzel, S Basaran, and R Mikelsaar
J Med Genet 1994; 31: 424-425. doi:10.1136/jmg.31.5.424 [PDF] [Request Permissions]

Interpreting the evidence for an association between the retinoic acid receptor locus and non-syndromic cleft lip with or without cleft palate.
L E Mitchell
J Med Genet 1994; 31: 425. doi:10.1136/jmg.31.5.425 [PDF] [Request Permissions]

Deletions of the entire APC gene are associated with sessile colonic adenomas.
S V Hodgson, N L Fagg, I C Talbot, and M Wilkinson
J Med Genet 1994; 31: 426. doi:10.1136/jmg.31.5.426 [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 >>

	If I am to be Remembered. The Life and Work of Julian Huxley with Selected Correspondence Alan Emery J Med Genet 1994; 31: 426. doi:10.1136/jmg.31.5.426-a [PDF] [Request Permissions]

	Preconception and Preimplantation Diagnosis of Human Genetic Disease Marilyn Monk J Med Genet 1994; 31: 426-427. doi:10.1136/jmg.31.5.426-b [PDF] [Request Permissions]

	The Molecular and Genetic Basis of Neurological Disease John Macmillan J Med Genet 1994; 31: 427. doi:10.1136/jmg.31.5.427 [PDF] [Request Permissions]

	Indexing Journal of Medical Genetics Doreen Blake J Med Genet 1994; 31: 428. doi:10.1136/jmg.31.5.428 [PDF] [Request Permissions]

	Geographical distribution of TTR met30 carriers in northern Sweden: discrepancy between carrier frequency and prevalence rate. G Holmgren, P M Costa, C Andersson, K Asplund, L Steen, L Beckman, P O Nylander, A Teixeira, M J Saraiva, and P P Costa J Med Genet 1994; 31: 351-354. doi:10.1136/jmg.31.5.351 [Abstract] [PDF] [Request Permissions]

	A point mutation in the human serum albumin gene results in familial dysalbuminaemic hyperthyroxinaemia. C E Petersen, A G Scottolini, L R Cody, M Mandel, N Reimer, and N V Bhagavan J Med Genet 1994; 31: 355-359. doi:10.1136/jmg.31.5.355 [Abstract] [PDF] [Request Permissions]

	Aspartylglucosaminuria in northern Norway: a molecular and genealogical study. O K Tollersrud, O Nilssen, L Tranebjaerg, and O Borud J Med Genet 1994; 31: 360-363. doi:10.1136/jmg.31.5.360 [Abstract] [PDF] [Request Permissions]

	The impact of population based screening for carriers of cystic fibrosis. H Bekker, G Denniss, M Modell, M Bobrow, and T Marteau J Med Genet 1994; 31: 364-368. doi:10.1136/jmg.31.5.364 [Abstract] [PDF] [Request Permissions]

	A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: description and clinical data. M Chillón, T Casals, J Giménez, V Nunes, and X Estivill J Med Genet 1994; 31: 369-370. doi:10.1136/jmg.31.5.369 [Abstract] [PDF] [Request Permissions]

	New X linked spondyloepimetaphyseal dysplasia: report on eight affected males in the same family. G Camera, G Stella, and A Camera J Med Genet 1994; 31: 371-376. doi:10.1136/jmg.31.5.371 [Abstract] [PDF] [Request Permissions]

	Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset. Y Trottier, V Biancalana, and J L Mandel J Med Genet 1994; 31: 377-382. doi:10.1136/jmg.31.5.377 [Abstract] [PDF] [Request Permissions]

	Female predisposition to cranial neural tube defects is not because of a difference between the sexes in the rate of embryonic growth or development during neurulation. F A Brook, J P Estibeiro, and A J Copp J Med Genet 1994; 31: 383-387. doi:10.1136/jmg.31.5.383 [Abstract] [PDF] [Request Permissions]

	Molecular evidence for non-penetrance in Best's disease. B H Weber, D Walker, and B Müller J Med Genet 1994; 31: 388-392. doi:10.1136/jmg.31.5.388 [Abstract] [PDF] [Request Permissions]

	Saethre-Chotzen syndrome. W Reardon and R M Winter J Med Genet 1994; 31: 393-396. doi:10.1136/jmg.31.5.393 [PDF] [Request Permissions]

	A case of paternally inherited congenital myotonic dystrophy. M Nakagawa, H Yamada, I Higuchi, Y Kaminishi, T Miki, K Johnson, and M Osame J Med Genet 1994; 31: 397-400. doi:10.1136/jmg.31.5.397 [Abstract] [PDF] [Request Permissions]

	Molecular characterisation of type 1 Gaucher disease families and patients: intrafamilial heterogeneity at the clinical level. O Amaral, A M Fortuna, L Lacerda, R Pinto, and M C Sa Miranda J Med Genet 1994; 31: 401-404. doi:10.1136/jmg.31.5.401 [Abstract] [PDF] [Request Permissions]

	A syndrome of hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion. Q H Qazi, D Markouizos, C Rao, T Sheikh, E Beller, and R Kula J Med Genet 1994; 31: 405-409. doi:10.1136/jmg.31.5.405 [Abstract] [PDF] [Request Permissions]

	Laurin-Sandrow syndrome (mirror hands and feet and nasal defects): description of a new case. M L Martínez-Frías, M Alcaraz, P Espejo, M A Gómez, R García de León, and L González Moro J Med Genet 1994; 31: 410-412. doi:10.1136/jmg.31.5.410 [Abstract] [PDF] [Request Permissions]

	Partial monosomy of 7q32 in a case of de novo rcp(7;15)(q32;q15). E D'Alessandro, C Ligas, M L Lo Re, M P Marcanio, T Gentile, and G Del Porto J Med Genet 1994; 31: 413-415. doi:10.1136/jmg.31.5.413 [Abstract] [PDF] [Request Permissions]

	Amyloid polyneuropathy in two German-American families: a new transthyretin variant (Val 107). T Uemichi, M A Gertz, and M D Benson J Med Genet 1994; 31: 416-417. doi:10.1136/jmg.31.5.416 [Abstract] [PDF] [Request Permissions]

	Trisomy 18 and trisomy 21 mosaicism in a Down's syndrome patient. I M Thomas, R Sayee, L Shavanthi, and H Sridevi J Med Genet 1994; 31: 418-419. doi:10.1136/jmg.31.5.418 [Abstract] [PDF] [Request Permissions]

	Genetics in art. A E Emery and M Emery J Med Genet 1994; 31: 420-422. doi:10.1136/jmg.31.5.420 [PDF] [Request Permissions]

	Drug induced VATER association: is dibenzepin a possible cause? P Merlob and N Naor J Med Genet 1994; 31: 423. doi:10.1136/jmg.31.5.423 [PDF] [Request Permissions]

	Kyphomelic dysplasia. M A O'Reilly and C M Hall J Med Genet 1994; 31: 423. doi:10.1136/jmg.31.5.423-a [PDF] [Request Permissions]

	Velocardiofacial syndrome and DiGeorge sequence. R J Shprintzen J Med Genet 1994; 31: 423-424. doi:10.1136/jmg.31.5.423-b [PDF] [Request Permissions]

	Multiple origins of X chromosome tetrasomy. W P Robinson, F Binkert, A A Schinzel, S Basaran, and R Mikelsaar J Med Genet 1994; 31: 424-425. doi:10.1136/jmg.31.5.424 [PDF] [Request Permissions]

	Interpreting the evidence for an association between the retinoic acid receptor locus and non-syndromic cleft lip with or without cleft palate. L E Mitchell J Med Genet 1994; 31: 425. doi:10.1136/jmg.31.5.425 [PDF] [Request Permissions]

	Deletions of the entire APC gene are associated with sessile colonic adenomas. S V Hodgson, N L Fagg, I C Talbot, and M Wilkinson J Med Genet 1994; 31: 426. doi:10.1136/jmg.31.5.426 [PDF] [Request Permissions]