Volume 29; Issue 1

Journal of Medical Genetics

Volume 29; Issue 1

1

Comments on important genetic topics from papers in other journals: Disease and evolution

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 263 KB

english, 1992

2

Comments on important genetic topics from papers in other journals: Becker's model and prenatal diagnosis in proximal spinal muscular atrophy (SMA): a note of caution

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 263 KB

english, 1992

3

The human genome project and medical genetics.

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 306 KB

english, 1992

4

Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome?

Lyonnet, S, Schwartz, G, Gatin, G, de Prost, Y, Munnich, A, Le Merrer, M

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 465 KB

english, 1992

5

Comments on important topics from papers in other journals: Haemophilia A diagnosis by analysis of a hypervariable dinucleotide repeat within the factor VIII gene

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 263 KB

english, 1992

6

Effects of genetic screening on perceptions of health: a pilot study.

Marteau, T M, van Duijn, M, Ellis, I

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 586 KB

english, 1992

7

Genes for intelligence on the X chromosome.

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 289 KB

english, 1992

8

Comments on important genetic topics from papers in other journals: Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 263 KB

english, 1992

9

Comments on important genetic topics from papers in other journals: X linked recessive nephrolithiasis with renal failure

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 263 KB

english, 1992

10

UK clinicians' knowledge of and attitudes to the prenatal diagnosis of single gene disorders.

Firth, H V, Lindenbaum, R H

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 612 KB

english, 1992

11

What is Pi (proteinase inhibitor) null or PiQO?: a problem highlighted by the alpha 1 antitrypsin Mheerlen mutation.

Kalsheker, N, Hayes, K, Weidinger, S, Graham, A

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 606 KB

english, 1992

12

Pericentric inversion of chromosome 7 (inv(7) (p22q11.2)) and ring chromosome 8 (r(8) (p23q24.3)) in a girl with minor anomalies.

Verma, R S, Conte, R A, Pitter, J H, Luke, S

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 315 KB

english, 1992

13

Autosomal dominant palmoplantar hyperkeratosis and sensorineural deafness in three generations.

Sharland, M, Bleach, N R, Goberdhan, P D, Patton, M A

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 482 KB

english, 1992

14

Unbalanced 13;18 translocation and Williams syndrome.

Colley, A, Thakker, Y, Ward, H, Donnai, D

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 716 KB

english, 1992

15

The cyclops and the mermaid: an epidemiological study of two types of rare malformation.

Kallen, B, Castilla, E E, Lancaster, P A, Mutchinick, O, Knudsen, L B, Martinez-Frias, M L, Mastroiacovo, P, Robert, E

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 1.16 MB

english, 1992

16

A TaqI map of the dystrophin gene useful for deletion and carrier status analysis.

Walker, A P, Laing, N G, Yamada, T, Chandler, D C, Kakulas, B A, Bartlett, R J

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 1.15 MB

english, 1992

17

Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families.

MacMillan, J C, Upadhyaya, M, Harper, P S

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 348 KB

english, 1992

18

Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers.

van Osch, L D, Oranje, A P, Keukens, F M, van Voorst Vader, P C, Veldman, E

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 1.41 MB

english, 1992

19

Familial Scheuermann disease: a genetic and linkage study.

McKenzie, L, Sillence, D

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 1.07 MB

english, 1992

20

Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group.

Raeymaekers, P, Timmerman, V, Nelis, E, Van Hul, W, De Jonghe, P, Martin, J J, Van Broeckhoven, C

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 1.57 MB

english, 1992

21

Schwartz-Jampel syndrome (chondrodystrophic myotonia).

Viljoen, D, Beighton, P

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 1.86 MB

english, 1992

22

Reply

Turner, G., Partington, M. W

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 289 KB

english, 1992

23

Another human homologue for the mouse mutant disorganisation.

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 289 KB

english, 1992

24

Charcot-Marie-Tooth disease type 1.

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 427 KB

english, 1992

25

Correlation of skeletal muscle biopsy with phenotype in the familial macrocephaly syndromes.

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 699 KB

english, 1992

26

Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome.

Tupler, R, Bortotto, L, Buhler, E M, Alkan, M, Malik, N J, Bosch-Al Jadooa, N, Memo, L, Maraschio, P

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 685 KB

english, 1992

27

Exclusion of calcitonin/alpha-CGRP gene defect in a family with autosomal dominant supravalvular aortic stenosis.

Pastores, G M, Michels, V V, Schaid, D J, Driscoll, D J, Feldt, R H, Thibodeau, S N

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 252 KB

english, 1992

28

Book reviews

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 281 KB

english, 1992

29

Annual Review of Genetics

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 281 KB

english, 1992

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