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Volume 32; Issue 10

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Journal of Medical Genetics
Volume 32; Issue 10

Journal of Medical Genetics

Volume 32; Issue 10

1

Haldane's Daedalus Revisited

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 248 KB

english, 1995

2

WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2)

McGaughran, J M, Ward, H B, Evans, D G R

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 364 KB

english, 1995

3

An unusual pedigree with microcornea-cataract syndrome

Stefaniak, E, Zaremba, J, Cieslinska, I, Kropinska, E

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 700 KB

english, 1995

4

Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s)

Ogata, T., Yoshizawa, A., Muroya, K., Matsuo, N., Fukushima, Y., Rappold, G., Yokoya, S.

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 772 KB

english, 1995

5

Treacher Collins syndrome.

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 1015 KB

english, 1995

6

Medical genetics: advances in brief: Evidence for a distinct region causing a cat-like cry in patients with 5p deletions

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 310 KB

english, 1995

7

Clinical and Genetic Aspects of the X Linked Hydrocephalus/MASA Spectrum

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 248 KB

english, 1995

8

Reply

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 227 KB

english, 1995

9

A new autosomal recessive syndrome of characteristic facies, joint contractures, skeletal abnormalities, and normal development: second report with further clinical delineation

Gupta, A., Hall, C. M, Ransley, Y. F, Murday, V. A

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 1.66 MB

english, 1995

10

Medical genetics: advances in brief: Specification of the neurobehavioural phenotype in males with fragile X syndrome

Clayton-Smith, J.

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 296 KB

english, 1995

11

From Genotype to Phenotype

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 248 KB

english, 1995

12

Metachromatic leucodystrophy (MLD) in a patient with a constitutional ring chromosome 22

Coulter-Mackie, M B, Rip, J, Ludman, M D, Beis, J, Cole, D E C

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 1.50 MB

english, 1995

13

Current issues of personnel and laboratory practices in genetic testing

Mark, H. F. L., Kelly, T., Watson, M. S, Hoeltge, G., Miller, W. A, Beauregard, L.

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 1.50 MB

english, 1995

14

Bilateral cataract and high serum ferritin: a new dominant genetic disorder?

Bonneau, D., Winter-Fuseau, I., Loiseau, M.-N., Amati, P., Berthier, M., Oriot, D., Beaumont, C.

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 403 KB

english, 1995

15

Medical genetics: advances in brief: Inactivation of the type II TGF- receptor in colon cancer cells with microsatellite instability

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 310 KB

english, 1995

16

Identification of an unbalanced cryptic translocation t(9;17)(q34.3;p13.3) in a child with dysmorphic features

Estop, A M, Mowery-Rushton, P A, Cieply, K M, Kochmar, S J, Sherer, C R, Clemens, M, Surti, U, McPherson, E

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 1.05 MB

english, 1995

17

Familial partial trisomy 8p without dysmorphic features and only mild mental retardation

Engelen, J J M, Die-Smulders, C E M d., Sijstermans, J M J, Meers, L E C, Albrechts, J C M, Hamers, A J H

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 861 KB

english, 1995

18

Response to GIG's response to the UK Clinical Genetics Society report "the genetic testing of children".

Michie, S, Marteau, T M

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 227 KB

english, 1995

19

FMR1 triplet arrays: paying the price for perfection

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 570 KB

english, 1995

20

General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation

Vries, B. B A d., Robinson, H., Stolte-Dijkstra, I., Gi, C. V T. P., Dijkstra, P. F, Doorn, J. v., Halley, D. J J, Oostra, B. A, Turner, G., Niermeijer, M. F

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 1.47 MB

english, 1995

21

Exclusion mapping of chromosomal regions which cross hybridise to FSHD1A associated markers in FSHD1B

Gilbert, J R, Speer, M C, Stajich, J, Clancy, R, Lewis, K, Qiu, H, Yamaoka, L, Kumar, A, Vance, J, Stewart, C, Rozear, M, Roses, A D, Pericak-Vance, M A

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 691 KB

english, 1995

22

Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24

Harrar, H S, Jeffery, S, Patton, M A

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 1.07 MB

english, 1995

23

Adolescents' opinions about genetic risk information, prenatal diagnosis, and pregnancy termination

Decruyenaere, M., Evers-Kiebooms, G., Welkenhuysen, M., Bande-Knops, J., Gerven, V. V., Berghe, H. V. d.

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 1.13 MB

english, 1995

24

Duplication 2 (q11.2-q21): a previously unreported abnormality

Cooke, L B, Richards, H, Lunt, P W, Burvill-Holmes, L, Howell, R T, McDermott, A

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 500 KB

english, 1995

25

Medical genetics: advances in brief

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 309 KB

english, 1995

26

Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.

Kroos, M A, Van der Kraan, M, Van Diggelen, O P, Kleijer, W J, Reuser, A J, Van den Boogaard, M J, Ausems, M G, Ploos van Amstel, H K, Poenaru, L, Nicolino, M

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 609 KB

english, 1995

27

Public attitudes towards the selection of desirable characteristics in children

Marteau, T., Michie, S., Drake, H., Bobrow, M.

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 449 KB

english, 1995

28

Comment: Decruyenaere et al., "Adolescents' opinions about genetic risk information, prenatal diagnosis, and termination of pregnancy.

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 204 KB

english, 1995

29

Reply to the commentary on Decruyenaere et al "adolescents' opinions about genetic risk information, prenatal diagnosis, and pregnancy termination".

Evers-Kiebooms, G, Decruyenaere, M, Welkenhuysen, M

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 286 KB

english, 1995

30

Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome

Dallapiccola, B., Mingarelli, R.

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 1.12 MB

english, 1995

31

Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease

Stevanin, G., Cassa, E., Cancel, G., Abbas, N., Durr, A., Jardim, E., Agid, Y., Sousa, P. S, Brice, A.

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 768 KB

english, 1995

32

Partial trisomy 3q and the mild Cornelia de Lange syndrome phenotype.

Ireland, M, English, C, Cross, I, Lindsay, S, Strachan, T

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 540 KB

english, 1995