J Med Genet -- Table of Contents (33 [1])

Subscribe here
Activate your subscription

Home > Volume 33, Number 1

Only Abstracts and PDFs available for this issue

Other Issues:
January 1996 (Volume 33, Number 1). [Index by author]

		Obituaries 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.

Obituaries

Professor Anita Harding
John Newsom-Davis
J Med Genet 1996; 33: 1. doi:10.1136/jmg.33.1.1 [PDF] [Request Permissions]

Book Reviews

DNA Cloning 2: A Practical Approach. Expression Systems
Steve Winder
J Med Genet 1996; 33: 86. doi:10.1136/jmg.33.1.86-a [PDF] [Request Permissions]

Developmental Mechanisms of Heart Disease
Sally Davies
J Med Genet 1996; 33: 86-87. doi:10.1136/jmg.33.1.86-b [PDF] [Request Permissions]

Nonisotopic Probing, Blotting, and Sequencing
Lucinda Reynolds
J Med Genet 1996; 33: 87. doi:10.1136/jmg.33.1.87 [PDF] [Request Permissions]

Color Atlas of Inherited Connective Tissue Disorders
W G Cole
J Med Genet 1996; 33: 87. doi:10.1136/jmg.33.1.87-a [PDF] [Request Permissions]

Research Article

Molecular genetics of neurofibromatosis type 1 (NF1).
M H Shen, P S Harper, and M Upadhyaya
J Med Genet 1996; 33: 2-17. doi:10.1136/jmg.33.1.2 [Abstract] [PDF] [Request Permissions]

Diagnosis of malignant hyperthermia: a comparison of the in vitro contracture test with the molecular genetic diagnosis in a large pedigree.
J M Healy, K A Quane, K E Keating, M Lehane, J J Heffron, and T V McCarthy
J Med Genet 1996; 33: 18-24. doi:10.1136/jmg.33.1.18 [Abstract] [PDF] [Request Permissions]

Variation of phenotype in patients with glucocorticoid remediable aldosteronism.
L J Gates, A A MacConnachie, R P Lifton, N E Haites, and N Benjamin
J Med Genet 1996; 33: 25-28. doi:10.1136/jmg.33.1.25 [Abstract] [PDF] [Request Permissions]

Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases.
E Bakker, M J Van der Wielen, E Voorhoeve, P F Ippel, G W Padberg, R R Frants, and C Wijmenga
J Med Genet 1996; 33: 29-35. doi:10.1136/jmg.33.1.29 [Abstract] [PDF] [Request Permissions]

Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease.
J Schleutker, P Sistonen, and P Aula
J Med Genet 1996; 33: 36-41. doi:10.1136/jmg.33.1.36 [Abstract] [PDF] [Request Permissions]

Translocation between chromosomes 6 and 15 (45,XX,t(6;15)(q25;q11.2)) with further evidence for lack of imprinting of the insulin-like growth factor II/mannose-6-phosphate receptor in humans.
E Treacy, C Polychronakos, M Vekemans, P Eydoux, S Blaichman, H Scarpelli, M Ross, Y Xu, and V M Der Kaloustian
J Med Genet 1996; 33: 42-46. doi:10.1136/jmg.33.1.42 [Abstract] [PDF] [Request Permissions]

Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex.
R Vrtel, S Verhoef, K Bouman, M M Maheshwar, M Nellist, A J van Essen, P L Bakker, C J Hermans, M T Bink-Boelkens, R M van Elburg, M Hoff, D Lindhout, J Sampson, D J Halley, and A M van den Ouweland
J Med Genet 1996; 33: 47-51. doi:10.1136/jmg.33.1.47 [Abstract] [PDF] [Request Permissions]

Localisation of a new gene for non-specific mental retardation to Xq22-q26 (MRX35).
X X Gu, R Decorte, P Marynen, J P Fryns, J J Cassiman, and P Raeymaekers
J Med Genet 1996; 33: 52-55. doi:10.1136/jmg.33.1.52 [Abstract] [PDF] [Request Permissions]

The representation of ethnic minorities at genetic clinics in Birmingham.
A Roberts, R Cullen, and S Bundey
J Med Genet 1996; 33: 56-58. doi:10.1136/jmg.33.1.56 [Abstract] [PDF] [Request Permissions]

X linked hydrocephalus and MASA syndrome.
S Kenwrick, M Jouet, and D Donnai
J Med Genet 1996; 33: 59-65. doi:10.1136/jmg.33.1.59 [Abstract] [PDF] [Request Permissions]

FISH studies in a patient with sporadic aniridia and t(7;11) (q31.2;p13).
J A Crolla, I Cross, N Atkey, M Wright, and C A Oley
J Med Genet 1996; 33: 66-68. doi:10.1136/jmg.33.1.66 [Abstract] [PDF] [Request Permissions]

Miller-Dieker syndrome resulting from rearrangement of a familial chromosome 17 inversion detected by fluorescence in situ hybridisation.
H M Kingston, D H Ledbetter, P I Tomlin, and K L Gaunt
J Med Genet 1996; 33: 69-72. doi:10.1136/jmg.33.1.69 [Abstract] [PDF] [Request Permissions]

Clinical features of cystic fibrosis patients with rare genotypes.
G Castaldo, E Rippa, V Raia, D Salvatore, C Massa, G de Ritis, and F Salvatore
J Med Genet 1996; 33: 73-76. doi:10.1136/jmg.33.1.73 [Abstract] [PDF] [Request Permissions]

Evidence for a fourth locus in Usher syndrome type I.
S Gerber, D Larget-Piet, J M Rozet, D Bonneau, M Mathieu, V Der Kaloustian, A Munnich, and J Kaplan
J Med Genet 1996; 33: 77-79. doi:10.1136/jmg.33.1.77 [Abstract] [PDF] [Request Permissions]

Benign adult familial myoclonus epilepsy (BAFME): an autosomal dominant form not linked to the dentatorubral pallidoluysian atrophy (DRPLA) gene.
A Kuwano, F Takakubo, Y Morimoto, E Uyama, M Uchino, M Ando, T Yasuda, A Terao, T Hayama, R Kobayashi, and I Kondo
J Med Genet 1996; 33: 80-81. doi:10.1136/jmg.33.1.80 [Abstract] [PDF] [Request Permissions]

Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients.
J M McGaughran, L Gaunt, J Dore, F Petrij, H G Dauwerse, and D Donnai
J Med Genet 1996; 33: 82-83. doi:10.1136/jmg.33.1.82 [Abstract] [PDF] [Request Permissions]

Detection of a familial cryptic translocation by fluorescent in situ hybridisation.
D P Smith, M Floyd, and B Say
J Med Genet 1996; 33: 84. doi:10.1136/jmg.33.1.84 [PDF] [Request Permissions]

Chromosome fragments with alphoid sequences derived from a pseudoisodicentric Y chromosome.
J L Fernández, D Valverde, J Gosálvez, C Pineiro, S Pereira, and V Goyanes
J Med Genet 1996; 33: 84-86. doi:10.1136/jmg.33.1.84-a [PDF] [Request Permissions]

Familial predisposition to both male and female germ cell tumours?
R A Huddart, C Thompson, R Houlston, R A Huddart, E J Nicholls, and A Horwich
J Med Genet 1996; 33: 86. doi:10.1136/jmg.33.1.86 [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 >>

	Professor Anita Harding John Newsom-Davis J Med Genet 1996; 33: 1. doi:10.1136/jmg.33.1.1 [PDF] [Request Permissions]

	DNA Cloning 2: A Practical Approach. Expression Systems Steve Winder J Med Genet 1996; 33: 86. doi:10.1136/jmg.33.1.86-a [PDF] [Request Permissions]

	Developmental Mechanisms of Heart Disease Sally Davies J Med Genet 1996; 33: 86-87. doi:10.1136/jmg.33.1.86-b [PDF] [Request Permissions]

	Nonisotopic Probing, Blotting, and Sequencing Lucinda Reynolds J Med Genet 1996; 33: 87. doi:10.1136/jmg.33.1.87 [PDF] [Request Permissions]

	Color Atlas of Inherited Connective Tissue Disorders W G Cole J Med Genet 1996; 33: 87. doi:10.1136/jmg.33.1.87-a [PDF] [Request Permissions]

	Molecular genetics of neurofibromatosis type 1 (NF1). M H Shen, P S Harper, and M Upadhyaya J Med Genet 1996; 33: 2-17. doi:10.1136/jmg.33.1.2 [Abstract] [PDF] [Request Permissions]

	Diagnosis of malignant hyperthermia: a comparison of the in vitro contracture test with the molecular genetic diagnosis in a large pedigree. J M Healy, K A Quane, K E Keating, M Lehane, J J Heffron, and T V McCarthy J Med Genet 1996; 33: 18-24. doi:10.1136/jmg.33.1.18 [Abstract] [PDF] [Request Permissions]

	Variation of phenotype in patients with glucocorticoid remediable aldosteronism. L J Gates, A A MacConnachie, R P Lifton, N E Haites, and N Benjamin J Med Genet 1996; 33: 25-28. doi:10.1136/jmg.33.1.25 [Abstract] [PDF] [Request Permissions]

	Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases. E Bakker, M J Van der Wielen, E Voorhoeve, P F Ippel, G W Padberg, R R Frants, and C Wijmenga J Med Genet 1996; 33: 29-35. doi:10.1136/jmg.33.1.29 [Abstract] [PDF] [Request Permissions]

	Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease. J Schleutker, P Sistonen, and P Aula J Med Genet 1996; 33: 36-41. doi:10.1136/jmg.33.1.36 [Abstract] [PDF] [Request Permissions]

	Translocation between chromosomes 6 and 15 (45,XX,t(6;15)(q25;q11.2)) with further evidence for lack of imprinting of the insulin-like growth factor II/mannose-6-phosphate receptor in humans. E Treacy, C Polychronakos, M Vekemans, P Eydoux, S Blaichman, H Scarpelli, M Ross, Y Xu, and V M Der Kaloustian J Med Genet 1996; 33: 42-46. doi:10.1136/jmg.33.1.42 [Abstract] [PDF] [Request Permissions]

	Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex. R Vrtel, S Verhoef, K Bouman, M M Maheshwar, M Nellist, A J van Essen, P L Bakker, C J Hermans, M T Bink-Boelkens, R M van Elburg, M Hoff, D Lindhout, J Sampson, D J Halley, and A M van den Ouweland J Med Genet 1996; 33: 47-51. doi:10.1136/jmg.33.1.47 [Abstract] [PDF] [Request Permissions]

	Localisation of a new gene for non-specific mental retardation to Xq22-q26 (MRX35). X X Gu, R Decorte, P Marynen, J P Fryns, J J Cassiman, and P Raeymaekers J Med Genet 1996; 33: 52-55. doi:10.1136/jmg.33.1.52 [Abstract] [PDF] [Request Permissions]

	The representation of ethnic minorities at genetic clinics in Birmingham. A Roberts, R Cullen, and S Bundey J Med Genet 1996; 33: 56-58. doi:10.1136/jmg.33.1.56 [Abstract] [PDF] [Request Permissions]

	X linked hydrocephalus and MASA syndrome. S Kenwrick, M Jouet, and D Donnai J Med Genet 1996; 33: 59-65. doi:10.1136/jmg.33.1.59 [Abstract] [PDF] [Request Permissions]

	FISH studies in a patient with sporadic aniridia and t(7;11) (q31.2;p13). J A Crolla, I Cross, N Atkey, M Wright, and C A Oley J Med Genet 1996; 33: 66-68. doi:10.1136/jmg.33.1.66 [Abstract] [PDF] [Request Permissions]

	Miller-Dieker syndrome resulting from rearrangement of a familial chromosome 17 inversion detected by fluorescence in situ hybridisation. H M Kingston, D H Ledbetter, P I Tomlin, and K L Gaunt J Med Genet 1996; 33: 69-72. doi:10.1136/jmg.33.1.69 [Abstract] [PDF] [Request Permissions]

	Clinical features of cystic fibrosis patients with rare genotypes. G Castaldo, E Rippa, V Raia, D Salvatore, C Massa, G de Ritis, and F Salvatore J Med Genet 1996; 33: 73-76. doi:10.1136/jmg.33.1.73 [Abstract] [PDF] [Request Permissions]

	Evidence for a fourth locus in Usher syndrome type I. S Gerber, D Larget-Piet, J M Rozet, D Bonneau, M Mathieu, V Der Kaloustian, A Munnich, and J Kaplan J Med Genet 1996; 33: 77-79. doi:10.1136/jmg.33.1.77 [Abstract] [PDF] [Request Permissions]

	Benign adult familial myoclonus epilepsy (BAFME): an autosomal dominant form not linked to the dentatorubral pallidoluysian atrophy (DRPLA) gene. A Kuwano, F Takakubo, Y Morimoto, E Uyama, M Uchino, M Ando, T Yasuda, A Terao, T Hayama, R Kobayashi, and I Kondo J Med Genet 1996; 33: 80-81. doi:10.1136/jmg.33.1.80 [Abstract] [PDF] [Request Permissions]

	Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients. J M McGaughran, L Gaunt, J Dore, F Petrij, H G Dauwerse, and D Donnai J Med Genet 1996; 33: 82-83. doi:10.1136/jmg.33.1.82 [Abstract] [PDF] [Request Permissions]

	Detection of a familial cryptic translocation by fluorescent in situ hybridisation. D P Smith, M Floyd, and B Say J Med Genet 1996; 33: 84. doi:10.1136/jmg.33.1.84 [PDF] [Request Permissions]

	Chromosome fragments with alphoid sequences derived from a pseudoisodicentric Y chromosome. J L Fernández, D Valverde, J Gosálvez, C Pineiro, S Pereira, and V Goyanes J Med Genet 1996; 33: 84-86. doi:10.1136/jmg.33.1.84-a [PDF] [Request Permissions]

	Familial predisposition to both male and female germ cell tumours? R A Huddart, C Thompson, R Houlston, R A Huddart, E J Nicholls, and A Horwich J Med Genet 1996; 33: 86. doi:10.1136/jmg.33.1.86 [PDF] [Request Permissions]