Volume 42; Issue 1

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Clinical Genetics
Volume 42; Issue 1

Clinical Genetics

Volume 42; Issue 1

1

Wolman disease: morphological, clinical and genetic studies on the first Scandinavian cases

M. Röyttä, A. S. Fagerlund, S. Toikkanen, T. T. Salmi, L. B. Jorde, H. R. Forsius, A. W. Eriksson

Journal:

Clinical Genetics

Année:

1992

Langue:

english

Fichier:

PDF, 964 KB

english, 1992

2

Linkage analysis in properdin deficiency families: refined location in proximal Xp

Claes Wadelius, Maritta Pigg, Mats Sundvall, Anders G. Sjöholm, Ponmani Goonewardena, Ed J. Kuijper, Cees C. Tijssen, Anton Jansz, Peter J. Späth, Ulf B. Schaad, Lisbeth Tranebjaerg, Hans E. Nielsen,

Journal:

Clinical Genetics

Année:

1992

Langue:

english

Fichier:

PDF, 419 KB

english, 1992

3

Consanguineous marriages among parents of Down patients

Nurettin Başaran, A. Cenani, B. S. Şayli, C. Özkinay, S. Artan, H. Seven, A. Başaran, S. Dinçer

Journal:

Clinical Genetics

Année:

1992

Langue:

english

Fichier:

PDF, 282 KB

english, 1992

4

Congenital hypertrophy of retinal pigment epithelium in patients with colonic polyps associated with cancer family syndrome

R. S. Houlston, T. Fallon, C. Harocopos, C. B. Williams, C. Davey, J. Slack

Journal:

Clinical Genetics

Année:

1992

Langue:

english

Fichier:

PDF, 229 KB

english, 1992

5

Congenital heart defects, hamartomas of the tongue and polysyndactyly in a sister and brother

Karen Helene Örstavik, Ralf Lindemann, Lars Åge Solberg, Arnold Foerster, Svein Jan Sørland

Journal:

Clinical Genetics

Année:

1992

Langue:

english

Fichier:

PDF, 359 KB

english, 1992

6

A fragile X family with high penetrance in females: risk heterogeneity?

Francisco Martínez, Lourdes Badía, Félix Prieto

Journal:

Clinical Genetics

Année:

1992

Langue:

english

Fichier:

PDF, 558 KB

english, 1992

7

Amyloidogenic and non-amyloidogenic transthyretin Asn 90 variants

I. L. Alves, M. R. Almeida, J. Skare, M. Skinner, K. Kurose, Y. Sakaki, P. P. Costa, M. J. M. Saraiva

Journal:

Clinical Genetics

Année:

1992

Langue:

english

Fichier:

PDF, 432 KB

english, 1992

8

Time of pubertal onset, testosterone levels and intelligence in 47,XXY males

Journal:

Clinical Genetics

Année:

1992

Langue:

english

Fichier:

PDF, 317 KB

english, 1992

9

Variable dystrophin expression in different muscles of a Duchenne muscular dystrophy carrier

Francesco Muntoni, Anna Mateddu, Maria Giovanna Marrosu, Miiena Cau, Rita Congiu, Maria Antonietta Melis, Antonio Cao, Carlo Cianchetti

Journal:

Clinical Genetics

Année:

1992

Langue:

english

Fichier:

PDF, 339 KB

english, 1992

10

Elevated serum levels of creatine kinase BB in autosomal dominant osteopetrosis Type II — a family study

Tatsuo Yoneyama, Hilton L. Fowler, John W. Pendleton, Peter P. Sforza, Roy D. Gerard, Charles Y. Lui, Thomas H. Eldridge, All Iranmanesh

Journal:

Clinical Genetics

Année:

1992

Langue:

english

Fichier:

PDF, 472 KB

english, 1992

11

DNA screening of hyperlipidemic Afrikaners for familial hypercholesterolemia

M. J. Kotze, E. Langenhoven, J. A. Kriek, C. J. J. Oosthuizen, A. E. Retief

Journal:

Clinical Genetics

Année:

1992

Langue:

english

Fichier:

PDF, 413 KB

english, 1992

12

Confirmation of true mosaic trisomy 20 in a phenotypically normal liveborn male

Arthur R. Brothman, Kimberly Rehberg, Patrick D. Storto, Susan E. Phillips, Robert T. Mosby

Journal:

Clinical Genetics

Année:

1992

Langue:

english

Fichier:

PDF, 267 KB

english, 1992

13

Pitted enamel hypoplasia in tuberous sclerosis

J. R. Sampson, D. Attwood, A. S. Al Mughery, J. S. Reid

Journal:

Clinical Genetics

Année:

1992

Langue:

english

Fichier:

PDF, 250 KB

english, 1992

14

DNA deletion in patients with von Recklinghausen neurofibromatosis

T. Kamei, Y. Fukushima, A. Shibata, Y. Hayashi, N. Tachibana, I. Takeda, N. Niikawa, F. S. Collins, K. Takahashi, S. Masumura

Journal:

Clinical Genetics

Année:

1992

Langue:

english

Fichier:

PDF, 163 KB

english, 1992

15

Autism and ring chromosome 18 mosaicism

Jean-Pierre Fryns, Alice Kleczkowska

Journal:

Clinical Genetics

Année:

1992

Langue:

english

Fichier:

PDF, 72 KB

english, 1992