Volume 30; Issue 1

Journal of Medical Genetics

Volume 30; Issue 1

1

The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: report of a Bedouin patient and review.

Farag, T I, al-Awadi, S A, Marafie, M J, Bastaki, L, al-Othman, S A, Mohammed, F M, AlSuliman, I S, Murthy, D S

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 852 KB

english, 1993

2

Medical genetics: advances in brief: Deletion polymorphism in the gene for angiotensin-converting enzyme is a potent risk factor for myocardial infarction

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 253 KB

english, 1993

3

Medical genetics: advances in brief: Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 253 KB

english, 1993

4

Another example favouring the location of BPES at 3q2.

de Almeida, J C, Llerena Junior, J C, Goncalves Neto, J B, Jung, M, Martins, R R

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 329 KB

english, 1993

5

Mosaicism for duplication 12q (12q13-->q24.2) in a dysmorphic male infant.

Dixon, J W, Costa, T, Teshima, I E

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 900 KB

english, 1993

6

Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis.

Schrander-Stumpel, C T, Howeler, C J, Reekers, A D, De Smet, N M, Hall, J G, Fryns, J P

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 1.15 MB

english, 1993

7

Reproductive possibilities for balanced translocation (14) carriers in families with partial trisomy of proximal 14q.

Valkova, G, Stefanova, M

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 676 KB

english, 1993

8

Variability of expression in tuberous sclerosis.

Northrup, H, Wheless, J W, Bertin, T K, Lewis, R A

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 607 KB

english, 1993

9

The rapid analysis of dystrophin gene deletions shows variable electrophoretic mobility.

Neilan, B A, Leigh, D A, McDonald, B L

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 393 KB

english, 1993

10

Human Gene Mapping 11. The Eleventh International Workshop on Human Gene Mapping

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 299 KB

english, 1993

11

The morbid anatomy of the human genome: chromosomal location of mutations causing disease.

McKusick, V A, Amberger, J S

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 4.08 MB

english, 1993

12

Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance.

Camera, G, Ferraiolo, G, Leo, D, Spaziale, A, Pozzolo, S

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 1.70 MB

english, 1993

13

Correction

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 114 KB

english, 1993

14

Holoprosencephaly: a family showing dominant inheritance and variable expression.

Collins, A L, Lunt, P W, Garrett, C, Dennis, N R

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 1.49 MB

english, 1993

15

Parental age, genetic mutation, and cerebral palsy.

Fletcher, N A, Foley, J

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 556 KB

english, 1993

16

Polycystic Kidney Disease

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 299 KB

english, 1993

17

Incontinentia pigmenti (Bloch-Sulzberger syndrome).

Landy, S J, Donnai, D

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 2.27 MB

english, 1993

18

Medical genetics: advances in brief: Deletions within chromosome 22q11 in familial congenital heart disease

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 240 KB

english, 1993

19

The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagen.

Cole, W G, Hall, R K, Rogers, J G

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 3.43 MB

english, 1993

20

Medical genetics: advances in brief: Omission of exon 12 in cystic fibrosis transmembrane conductance regulator (CFTR) gene transcripts

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 253 KB

english, 1993

21

Humeroradioulnar synostosis in a patient with lambdoid synostosis.

Edwards, T J, Haan, E A, Humphrey, I J

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 514 KB

english, 1993

22

The Cystic Kidney

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 299 KB

english, 1993

23

Delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases: a new syndrome?

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 397 KB

english, 1993

24

Waardenburg syndrome and myelomeningocele in a family.

Chatkupt, S, Chatkupt, S, Johnson, W G

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 420 KB

english, 1993

25

Medical genetics: advances in brief

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 253 KB

english, 1993

26

Exclusion of familial dysautonomia from more than 60% of the genome.

Blumenfeld, A, Axelrod, F B, Trofatter, J A, Maayan, C, Lucente, D E, Slaugenhaupt, S A, Liebert, C B, Ozelius, L J, Haines, J L, Breakefield, X O

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 992 KB

english, 1993

27

A new approach to prenatal cystic fibrosis carrier screening.

Miedzybrodzka, Z, Haites, N, Dean, J

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 329 KB

english, 1993