Volume 34; Issue 10

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Journal of Medical Genetics
Volume 34; Issue 10

Journal of Medical Genetics

Volume 34; Issue 10

1

The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.

van Essen, A J, Kneppers, A L, van der Hout, A H, Scheffer, H, Ginjaar, I B, ten Kate, L P, van Ommen, G J, Buys, C H, Bakker, E

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 1.94 MB

english, 1997

2

Genetic heterogeneity of autosomal dominant polycystic kidney disease in Argentina.

Iglesias, D M, Martin, R S, Fraga, A, Virginillo, M, Kornblihtt, A R, Arrizurieta, E, Viribay, M, San Millan, J L, Herrera, M, Bernath, V

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 679 KB

english, 1997

3

Wolfram (DIDMOAD) syndrome.

Barrett, T G, Bundey, S E

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 736 KB

english, 1997

4

Gaucher disease plus.

Sidransky, E, Ginns, E I

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 629 KB

english, 1997

5

Spondylo-mesomelic-acrodysplasia with joint dislocations and severe combined immunodeficiency: a newly recognised immuno-osseous dysplasia.

Castriota-Scanderbeg, A, Mingarelli, R, Caramia, G, Osimani, P, Lachman, R S, Rimoin, D L, Wilcox, W R, Dallapiccola, B

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 883 KB

english, 1997

6

Severe manifestations in carrier females in X linked retinitis pigmentosa.

Souied, E, Segues, B, Ghazi, I, Rozet, J M, Chatelin, S, Gerber, S, Perrault, I, Michel-Awad, A, Briard, M L, Plessis, G, Dufier, J L, Munnich, A, Kaplan, J

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 946 KB

english, 1997

7

Persistence of Mediterranean anaemia in Sicily.

Romeo, M A, Di Gregorio, F, Russo, G

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 357 KB

english, 1997

8

Essential Medical Genetics

Niermeijer, M. F

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 269 KB

english, 1997

9

Gregor Mendel--The First Geneticist

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 603 KB

english, 1997

10

Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome).

Morris, A A, Sequeira, J S, Malone, M, Slaney, S F, Clayton, P T

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 510 KB

english, 1997

11

The Gene Bomb

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 303 KB

english, 1997

12

Isolated sacral agenesis in a fetus monosomic for 7q36.1-->qter.

Savage, N M, Maclachlan, N A, Joyce, C A, Moore, I E, Crolla, J A

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 742 KB

english, 1997

13

Correction

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 282 KB

english, 1997

14

The phenotypic effects of chromosome rearrangement involving bands 7q21.3 and 22q13.3.

Slavotinek, A, Maher, E, Gregory, P, Rowlandson, P, Huson, S M

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 1.86 MB

english, 1997

15

Interstitial deletion of bands 4q12-->q13.1: case report and review of proximal 4q deletions.

Slavotinek, A, Kingston, H

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 909 KB

english, 1997

16

Instability of normal (CTG)n alleles in the DM kinase gene.

Dow, D J, Rubinsztein, D C, Yates, J R, Barton, D E, Ferguson-Smith, M A

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 568 KB

english, 1997

17

Characterisation of a satellited non-fluorescent Y chromosome (Y[nfqs]) by FISH.

Verma, R S, Gogineni, S K, Kleyman, S M, Conte, R A

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 505 KB

english, 1997

18

Macrocephaly, epilepsy, autism, dysmorphic features, and mental retardation in two sisters: a new autosomal recessive syndrome?

Orstavik, K H, Stromme, P, Ek, J, Torvik, A, Skjeldal, O H

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 835 KB

english, 1997

19

Evaluation of a project to enhance knowledge of hereditary diseases and management.

Walpole, I R, Watson, C, Moore, D, Goldblatt, J, Bower, C

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 1.39 MB

english, 1997

20

Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome.

Slavotinek, A, Gaunt, L, Donnai, D

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 2.29 MB

english, 1997

21

Molecular characterisation of cystic fibrosis patients in the state of Sao Paulo (Brazil)

Parizotto, E A, Bertuzzo, C S

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 324 KB

english, 1997

22

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

Ryan, A K, Goodship, J A, Wilson, D I, Philip, N, Levy, A, Seidel, H, Schuffenhauer, S, Oechsler, H, Belohradsky, B, Prieur, M, Aurias, A, Raymond, F L, Clayton-Smith, J, Hatchwell, E, McKeown, C, Bee

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 1.65 MB

english, 1997

23

Marshall-Smith syndrome: the expanding phenotype.

Williams, D K, Carlton, D R, Green, S H, Pearman, K, Cole, T R

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 1.13 MB

english, 1997

24

A syndrome including thumb malformations, microcephaly, short stature, and hypogonadism.

Zlotogora, J, Dagan, J, Ganen, A, Abu-Libdeh, M, Ben-Neriah, Z, Cohen, T

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 589 KB

english, 1997

25

Renal tubular dysgenesis with calvarial hypoplasia: report of two additional cases and review.

McFadden, D E, Pantzar, J T, Van Allen, M I, Langlois, S

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 482 KB

english, 1997

26

Mutation in the 3' region of the alpha-1-antitrypsin gene and chronic obstructive pulmonary disease.

Sandford, A J, Spinelli, J J, Weir, T D, Pare, P D

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 333 KB

english, 1997