Volume 37; Issue 3

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Clinical Genetics
Volume 37; Issue 3

Clinical Genetics

Volume 37; Issue 3

1

Proximal 15q variant as possible pitfall in the cytogenetic diagnosis of Prader-Willi syndrome

Joe-Jie Hoo, Margaret C. Chao, Iris P. Samuel, Andrew M. Morgan

Journal:

Clinical Genetics

Année:

1990

Langue:

english

Fichier:

PDF, 498 KB

english, 1990

2

The common fragile site in band q27 of the human X chromosome is not coincident with the fragile X

Grant R. Sutherland, Elizabeth Baker

Journal:

Clinical Genetics

Année:

1990

Langue:

english

Fichier:

PDF, 418 KB

english, 1990

3

Genetic counselling in Duchenne and Becker muscular dystrophy is problematic when carrier studies give controversial results

H. Kääriäinen, M. Lindlöf, H. Somer, A. de la Chapelle

Journal:

Clinical Genetics

Année:

1990

Langue:

english

Fichier:

PDF, 569 KB

english, 1990

4

Comparison of anatomical location of squamous cell carcinoma within the oral cavity and oropharynx with the incidence of in vitro hyperdiploidy

B. Shannon Danes, Paula De Angelis, Frank Traganos, Ulrik Ringborg, Lars Holme Nielsen, Myron R. Melamed

Journal:

Clinical Genetics

Année:

1990

Langue:

english

Fichier:

PDF, 396 KB

english, 1990

5

Apolipoprotein A-l/C-lll gene cluster polymorphism in Saudi Arabians, Filipinos and Caucasians

Klaus Johansen, Antoni Skotnicki, Jenny C. Y. Tan, Aaron A. A. Kwaasi, Mary Skotnicki

Journal:

Clinical Genetics

Année:

1990

Langue:

english

Fichier:

PDF, 300 KB

english, 1990

6

A child with cystic fibrosis: I. Parental knowledge about the genetic transmission of CF and about DNA-diagnostic procedures

Lieve Denayer, Gerry Evers-Kiebooms, Herman Van den Berghe

Journal:

Clinical Genetics

Année:

1990

Langue:

english

Fichier:

PDF, 592 KB

english, 1990

7

A child with cystic fibrosis: II. Subsequent family planning decisions, reproduction and use of prenatal diagnosis

Gerry Evers-Kiebooms, Lieve Denayer, Herman Van den Berghe

Journal:

Clinical Genetics

Année:

1990

Langue:

english

Fichier:

PDF, 596 KB

english, 1990

8

A case of 46,XX,r(X) (p1q1) diagnosed by in situ hybridization

J. Koch, S. Kølvraa, N. Hobolt, G. B. Petersen, H. F. Willard, J. S. Waye, N. Gregersen, L. Bolund

Journal:

Clinical Genetics

Année:

1990

Langue:

english

Fichier:

PDF, 345 KB

english, 1990

9

A linkage study of malignant hyperthermia (MH)

K. Bender, H. Senff, T. F. Wienker, C. Spiess-Kiefer, F. Lehmann-Horn

Journal:

Clinical Genetics

Année:

1990

Langue:

english

Fichier:

PDF, 246 KB

english, 1990

10

Sotos syndrome and de novo balanced autosomal translocation (t(3;6)(p21;p21))

C. T. R. M. Schrander-Stumpel, J. P. Fryns, G. G. Hamers

Journal:

Clinical Genetics

Année:

1990

Langue:

english

Fichier:

PDF, 293 KB

english, 1990

11

High resolution banding of an unusual reciprocal translocation in recurrent abortions

P. M. Kroisel, W. Rosenkranz

Journal:

Clinical Genetics

Année:

1990

Langue:

english

Fichier:

PDF, 281 KB

english, 1990

12

Three-generation transmission of Hirschsprung's disease

A. H. Lipson, J. Harvey, C. A. Oley

Journal:

Clinical Genetics

Année:

1990

Langue:

english

Fichier:

PDF, 47 KB

english, 1990

13

Monosomy X found at first trimester CVS: a diagnostic and counselling dilemma

N. J. Leschot, H. Wolf, M. Verjaal, A. C. van Prooijen-Knegt K. Boer

Journal:

Clinical Genetics

Année:

1990

Langue:

english

Fichier:

PDF, 147 KB

english, 1990

14

Terminal 7q deletion as a cause of holoprosencephaly

Mitsuo Masuno, Tadao Orii

Journal:

Clinical Genetics

Année:

1990

Langue:

english

Fichier:

PDF, 55 KB

english, 1990

15

Announcements

Journal:

Clinical Genetics

Année:

1990

Langue:

english

Fichier:

PDF, 75 KB

english, 1990

16

CSF and urine biogenic amine metabolites in Rett syndrome

Annika Lekman, Ingegerd Witt-Engerström, Berit Holmberg, Alan Percy, Lars Svennerholm, Bengt Hagberg

Journal:

Clinical Genetics

Année:

1990

Langue:

english

Fichier:

PDF, 370 KB

english, 1990