Volume 32; Issue 9

Journal of Medical Genetics

Volume 32; Issue 9

1

Twenty-four cases of the EEC syndrome: clinical presentation and management.

Buss, P W, Hughes, H E, Clarke, A

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 1.95 MB

english, 1995

2

Refinement of the localisation of the X linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22.13-p22.2.

Oosterwijk, J C, van der Wielen, M J, van de Vosse, E, Voorhoeve, E, Bakker, E

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 660 KB

english, 1995

3

Clinical features of nine males with molecularly defined deletions of the Y chromosome long arm.

Salo, P, Ignatius, J, Simola, K O, Tahvanainen, E, Kaariainen, H

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 1.51 MB

english, 1995

4

Prenatal diagnosis of X linked lymphoproliferative disease using multiplex polymerase chain reaction.

Schuster, V, Seidenspinner, S, Kreth, H W

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 533 KB

english, 1995

5

A variant of Wiskott-Aldrich syndrome with nephropathy is linked to DXS255.

Bennett, C P, Barnicoat, A J, Cotter, F, Wang, Q, Mathew, C G

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 430 KB

english, 1995

6

Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.

Chabas, A, Cormand, B, Grinberg, D, Burguera, J M, Balcells, S, Merino, J L, Mate, I, Sobrino, J A, Gonzalez-Duarte, R, Vilageliu, L

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 720 KB

english, 1995

7

Influence of the sex of the transmitting grandparent in congenital myotonic dystrophy.

Lopez de Munain, A, Cobo, A M, Poza, J J, Navarrete, D, Martorell, L, Palau, F, Emparanza, J I, Baiget, M

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 524 KB

english, 1995

8

Cell Biology: a Laboratory Handbook

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 326 KB

english, 1995

9

Use of type VII collagen gene (COL7A1) markers in prenatal diagnosis of recessive dystrophic epidermolysis bullosa.

Dunnill, M G, Rodeck, C H, Richards, A J, Atherton, D, Lake, B D, Petrou, M, Eady, R A, Pope, F M

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 407 KB

english, 1995

10

Mitochondrial DNA does not appear to influence the congenital onset type of myotonic dystrophy.

Poulton, J, Harley, H G, Dasmahapatra, J, Brown, G K, Potter, C G, Sykes, B

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 792 KB

english, 1995

11

Research in canine and human genetic disease.

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 841 KB

english, 1995

12

Medical genetics: advances in brief: KAI1, a metastasis suppressor gene for prostate cancer on human chromosome 11p11.2

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 214 KB

english, 1995

13

Monozygotic twins with chromosome 22q11 deletion and discordant phenotype.

Goodship, J, Cross, I, Scambler, P, Burn, J

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 607 KB

english, 1995

14

The molecular basis of ornithine transcarbamylase deficiency: modelling the human enzyme and the effects of mutations.

Tuchman, M, Morizono, H, Reish, O, Yuan, X, Allewell, N M

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 2.25 MB

english, 1995

15

Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene.

Upadhyaya, M, Maynard, J, Osborn, M, Huson, S M, Ponder, M, Ponder, B A, Harper, P S

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 1.73 MB

english, 1995

16

Genotype-phenotype correlations of new causative APC gene mutations in patients with familial adenomatous polyposis.

Bunyan, D J, Shea-Simonds, J, Reck, A C, Finnis, D, Eccles, D M

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 658 KB

english, 1995

17

Medical genetics: advances in brief: The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: implications for genetic counseling

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 214 KB

english, 1995

18

Direct marketing of cystic fibrosis carrier screening: commercial push or population need?

Cuckle, H, Lilford, R, Wilson, J, Sehmi, I

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 181 KB

english, 1995

19

Hereditary Hearing Loss and its Syndromes

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 139 KB

english, 1995

20

Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with osteogenesis imperfecta type I.

Willing, M C, Slayton, R L, Pitts, S H, Deschenes, S P

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 735 KB

english, 1995

21

Fetal valproate syndrome.

Clayton-Smith, J, Donnai, D

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 1.48 MB

english, 1995

22

Medical genetics: advances in brief: Rapid antibody test for fragile X syndrome

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 214 KB

english, 1995

23

Analysis of triplet repeats in the huntingtin gene in Japanese families affected with Huntington's disease.

Masuda, N, Goto, J, Murayama, N, Watanabe, M, Kondo, I, Kanazawa, I

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 953 KB

english, 1995

24

The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies.

Wallgren-Pettersson, C, Clarke, A, Samson, F, Fardeau, M, Dubowitz, V, Moser, H, Grimm, T, Barohn, R J, Barth, P G

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 2.09 MB

english, 1995

25

Vaginal rhabdomyosarcoma in a patient with Noonan syndrome.

Khan, S, McDowell, H, Upadhyaya, M, Fryer, A

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 778 KB

english, 1995