Volume 35; Issue 7

Journal of Medical Genetics

Volume 35; Issue 7

1

Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVD.

de Meeus, A, Guittard, C, Desgeorges, M, Carles, S, Demaille, J, Claustres, M

Journal:

Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 462 KB

english, 1998

2

Extensive form of aplasia cutis congenita: a new syndrome?

Park, M S, Hahn, S H, Hong, C H, Kim, J S, Kim, H S

Journal:

Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 1.20 MB

english, 1998

3

Gene Therapy for Neurological Disorders and Brain Tumours

Journal:

Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 160 KB

english, 1998

4

Analysis of a familial three way translocation involving chromosomes 3q, 6q, and 15q by high resolution banding and fluorescent in situ hybridisation (FISH) shows two different unbalanced karyotypes in sibs.

Wieczorek, D, Engels, H, Viersbach, R, Henke, B, Schwanitz, G, Passarge, E

Journal:

Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 2.42 MB

english, 1998

5

No evidence for heterogeneity in oculopharyngeal muscular dystrophy.

Kress, W, Halliger-Keller, B, Grimm, T, Porschke, H, Engelhardt, A, Goebel, H H, Muller-Mysok, B

Journal:

Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 598 KB

english, 1998

6

Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland.

Lee, W K, Haddad, L, Macleod, M J, Dorrance, A M, Wilson, D J, Gaffney, D, Dominiczak, M H, Packard, C J, Day, I N, Humphries, S E, Dominiczak, A F

Journal:

Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 1.36 MB

english, 1998

7

Molecular screening for proximal 15q abnormalities in a mentally retarded population.

Jacobsen, J, King, B H, Leventhal, B L, Christian, S L, Ledbetter, D H, Cook, E H

Journal:

Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 1010 KB

english, 1998

8

Mosaicism for a tandem duplication dup(1)(q12q22) in an 18 year old female.

de Silva, D, Massie, D, Drummond, J, Couzin, D, Dean, J C

Journal:

Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 1.05 MB

english, 1998

9

Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype.

Savarirayan, R, Bankier, A

Journal:

Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 831 KB

english, 1998

10

Holoprosencephaly in deletions of proximal chromosome 14q.

Devriendt, K, Fryns, J P, Chen, C P

Journal:

Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 368 KB

english, 1998

11

Mutation databases on the Web.

Wacey, A I, Tuddenham, E G

Journal:

Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 866 KB

english, 1998

12

Another holoprosencephaly locus at 7q21.2?

Journal:

Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 403 KB

english, 1998

13

A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations.

Hall, C M, Elcioglu, N H, Shaw, D G

Journal:

Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 3.09 MB

english, 1998

14

Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3).

Plomp, A S, Engelen, J J, Albrechts, J C, de Die-Smulders, C E, Hamers, A J

Journal:

Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 1.22 MB

english, 1998

15

Uniparental and functional X disomy in Turner syndrome patients with unexplained mental retardation and X derived marker chromosomes.

Yorifuji, T, Muroi, J, Kawai, M, Uematsu, A, Sasaki, H, Momoi, T, Kaji, M, Yamanaka, C, Furusho, K

Journal:

Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 1.14 MB

english, 1998

16

Choroid plexus cysts and aneuploidy.

Peleg, D, Yankowitz, J

Journal:

Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 786 KB

english, 1998

17

The fragile X syndrome.

de Vries, B B, Halley, D J, Oostra, B A, Niermeijer, M F

Journal:

Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 2.90 MB

english, 1998

18

Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP.

Nelis, E, De Jonghe, P, De Vriendt, E, Patel, P I, Martin, J J, Van Broeckhoven, C

Journal:

Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 600 KB

english, 1998

19

Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype.

Ryan, A K, Bartlett, K, Clayton, P, Eaton, S, Mills, L, Donnai, D, Winter, R M, Burn, J

Journal:

Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 2.20 MB

english, 1998

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