Volume 30; Issue 4

Journal of Medical Genetics

Volume 30; Issue 4

1

Coarctation of the aorta, interrupted aortic arch, and hypoplastic left heart syndrome in three generations.

Gerboni, S, Sabatino, G, Mingarelli, R, Dallapiccola, B

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 319 KB

english, 1993

2

Genetics

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 295 KB

english, 1993

3

Suicide risk in Huntington's disease.

Di Maio, L, Squitieri, F, Napolitano, G, Campanella, G, Trofatter, J A, Conneally, P M

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 446 KB

english, 1993

4

Micromanipulation of Human Gametes and Embryos

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 518 KB

english, 1993

5

Otopalatodigital syndrome type II.

Holder, S E, Winter, R M

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 1.06 MB

english, 1993

6

Neurofibromatosis: Phenotype, Natural History and Pathogenesis

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 307 KB

english, 1993

7

Six DNA polymorphisms in the low density lipoprotein receptor gene: their genetic relationship and an example of their use for identifying affected relatives of patients with familial hypercholesterolaemia.

Humphries, S, King-Underwood, L, Gudnason, V, Seed, M, Delattre, S, Clavey, V, Fruchart, J C

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 1.30 MB

english, 1993

8

Genetic Diversity Among Jews: Diseases and Markers at the DNA Level

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 222 KB

english, 1993

9

Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers.

Hastbacka, J, Salonen, R, Laurila, P, de la Chapelle, A, Kaitila, I

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 722 KB

english, 1993

10

Phenylketonuria: variable phenotypic outcomes of the R261Q mutation and maternal PKU in the offspring of a healthy homozygote.

Kleiman, S, Vanagaite, L, Bernstein, J, Schwartz, G, Brand, N, Elitzur, A, Woo, S L, Shiloh, Y

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 934 KB

english, 1993

11

Simultaneous de novo interstitial deletion of 16q21 and intercalary duplication of 19q in a retarded infant with minor dysmorphic features.

Trautmann, U, Pfeiffer, R A, Seufert-Satomi, U, Tietze, H U

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 516 KB

english, 1993

12

Characterisation of a highly polymorphic microsatellite at the DXS207 locus: confirmation of very close linkage to the retinoschisis disease gene.

Oudet, C, Weber, C, Kaplan, J, Segues, B, Croquette, M F, Roman, E O, Hanauer, A

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 642 KB

english, 1993

13

Possible X linked congenital mitochondrial cardiomyopathy in three families.

Orstavik, K H, Skjorten, F, Hellebostad, M, Haga, P, Langslet, A

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 808 KB

english, 1993

14

Medical genetics: advances in brief

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 255 KB

english, 1993

15

Onset symptoms in 510 patients with Huntington's disease.

Di Maio, L, Squitieri, F, Napolitano, G, Campanella, G, Trofatter, J A, Conneally, P M

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 575 KB

english, 1993

16

Genetic Disorders and the Fetus. Diagnosis, Prevention and Treatment

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 293 KB

english, 1993

17

A cytogenetic survey in Menkes disease: implications for the detection of chromosomal rearrangements in X linked disorders.

Tommerup, N, Tumer, Z, Tonnesen, T, Horn, N

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 383 KB

english, 1993

18

Prevalence of cystic fibrosis mutations in the Grampian region of Scotland.

Miedzybrodzka, Z H, Dean, J C, Russell, G, Friend, J A, Kelly, K F, Haites, N E

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 268 KB

english, 1993

19

Gaucher's disease in the United Kingdom: screening non-Jewish patients for the two common mutations.

Walley, A J, Barth, M L, Ellis, I, Fensom, A H, Harris, A

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 691 KB

english, 1993

20

The dopamine D3 receptor gene: no association with bipolar affective disorder.

Shaikh, S, Ball, D, Craddock, N, Castle, D, Hunt, N, Mant, R, Owen, M, Collier, D, Gill, M

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 238 KB

english, 1993

21

Profound mental retardation, characteristic facies with midfacial hypoplasia and premature frontotemporal balding, muscular hypotrophy, and small patellae in two unrelated male patients.

Fryns, J P, Thiry, P, Geutjens, J, Smeets, E, Vinken, L, Van den Berghe, H

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 668 KB

english, 1993

22

Short limbed dwarfism, genital hypoplasia, sparse hair, and vertebral anomalies: a variant of Ellis-van Creveld syndrome?

Fryns, J P, Moerman, P

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 855 KB

english, 1993

23

Consanguinity, cardiac arrest, hearing impairment, and ECG abnormalities: counselling pitfalls in the Romano-Ward syndrome.

Reardon, W, Lewis, N, Hughes, H E

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 452 KB

english, 1993

24

Medical genetics: advances in brief: Prevention of the first occurrence of neural-tube defects by periconceptual vitamin supplementation

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 269 KB

english, 1993

25

Medical genetics: advances in brief: A mammalian cell cycle checkpoint utilizing p53 and GADD45 is defective in ataxia-telangiectasia

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 269 KB

english, 1993

26

Medical genetics: advances in brief: Genetic determinants of airways' colonisation with Pseudomonas aeruginosa in cystic fibrosis

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 269 KB

english, 1993

27

The Code of Codes. Scientific and Social Issues in the Human Genome Project

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 295 KB

english, 1993

28

Polydactyly: a study of a five generation Indian family.

Radhakrishna, U, Multani, A S, Solanki, J V, Shah, V C, Chinoy, N J

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 1.02 MB

english, 1993

29

Prader Willi Syndrome and Other Chromosome 15q Deletion Disorders

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 295 KB

english, 1993

30

The Atlas of Mouse Development

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 591 KB

english, 1993

31

Mendelian Inheritance in Man

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 222 KB

english, 1993

32

Absence of linkage between chromosome 21 loci and familial amyotrophic lateral sclerosis.

King, A, Houlden, H, Hardy, J, Lane, R, Chancellor, A, de Belleroche, J

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 189 KB

english, 1993

33

An improved, non-isotopic method of screening cells from patients with abnormalities of sexual differentiation for Y chromosomal DNA content.

Witt, M, Michalczak, K, Latos-Bielenska, A, Jaruzelska, J, Kuczora, I, Lopez, M

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 736 KB

english, 1993

34

Medical genetics: advances in brief: Identification of a second pseudo-autosomal region near the Xq and Yq telomeres

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 255 KB

english, 1993

35

Abstracts of the British Medical Genetics Conference. Nottingham, 23-25 September 1992.

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 4.35 MB

english, 1993