Volume 49; Issue 6

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Clinical Genetics
Volume 49; Issue 6

Clinical Genetics

Volume 49; Issue 6

1

Deletion or triplication of the α3(VI) collagen gene in three patients with 2q37 chromosome aberrations and symptoms of collagen-related disorders

A. Rauch, R. A. Pfeiffer, U. Trautmann

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 1.56 MB

english, 1996

2

Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Glyl003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmation

Katrina Mackay, Michael Raghunath, Andrea Superti-Furga, Beat Steinmann, Raymond Dalgleish

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 1.21 MB

english, 1996

3

Four siblings with achalasia, alacrimia and neurological abnormalities in a consanguineous family

Erhun Kasirga, Ferda Özkinay, Sarenur Tütüncuoğlu, Sema Aydoğdu, Zafer Çolakoğlu, Ahmet Musoğlu, Ayşe Yağci, Baha Taneli, Raşit V. Yağci

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 302 KB

english, 1996

4

Branchio-oto (BO) syndrome and oculoauriculo-vertebral phenotype: overlapping clinical findings in a child from a BO family

A. Sensi, G. Cocchi, A. Martini, G. Garani, P. Trevisi, E. Calzolari

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 589 KB

english, 1996

5

A de novo interstitial deletion of chromosome 15 band q25 as revealed by FISH-technique

Ram S. Verma, Svetlana M. Kleyman, Radha Giridharan, K. H. Ramesh

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 343 KB

english, 1996

6

Interstitial 6q deletion and Prader-Willi-like phenotype

Constance K. Stein, Susan E. Stred, Laura L. Thomson, Frank C. Smith, Joe J. Hoo

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 552 KB

english, 1996

7

Fibular dimelia and mirror foot without associated anomalies

Hüseyin Bayram, Mustafa Herdem, A. Kübra Temoçin

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 886 KB

english, 1996

8

Bloom's syndrome in a Turkish individual

Ertan Yilmaz, Erkan Alpsoy, Güven Lüleci, Gülseren Bağci, Gülsün Gülay Yilmaz, Lütfiye Çetin, Erdal Başaran

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 438 KB

english, 1996

9

Partial trisomy 6p due to maternal t(1;6) translocation

Minghao Song, Luyun Li

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 232 KB

english, 1996

10

A female with monosomy 18 mosaicism: a previously undescribed chromosome abnormality

Mohamed M. Khalifa, Hirotaka Yamashiro, Alessandra M. V. Duncan, Michael Hefferon, Aryn E. Martin

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 694 KB

english, 1996

11

Four frequently observed polymorphisms in the 3‘-UTR of human peripheral myelin protein 22 (PMP22): identification of different haplotypes

Peter Young, Heiko Wiebusch, Florian Stögbauer, Bernd Ringelstein, Gerd Assmann, Harald Funke

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 210 KB

english, 1996

12

A Stu I polymorphism in the human androgen receptor gene (AR)

Jianming Lu, Mark Danielsen

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 103 KB

english, 1996

13

Homozygous deletion of exon 18 leads to degradation of the lysosomal α-glucosidase precursor and to the infantile form of glycogen storage disease type II

Margreet G. E. M. Ausems, Marian A. Kroos, Magna Van der Kraan, Jan A. M. Smeitink, Wim J. Kleijer, Hans Kristian Ploos van Amstel, Arnold J. J. Reuser

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 488 KB

english, 1996

14

Duodenal web in the syndrome of osteopathia striata with cranial sclerosis

Benjamin Bar-Oz, Paul Mogle, Ziva Ben-Neriah, Ruth Sheffer, Ilan Arad

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 245 KB

english, 1996

15

Ataxia telangiectasia syndrome with B cell lymphoma

Hideo Kaneko, Ryousuke Inoue, Yukiji Yamada, Kimiko Kasahara, Tsuyoshi Takami, Naomi Kondo

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 133 KB

english, 1996

16

Synpolydactyly (Syndactyly Type II)

Dr. F. R. Goodman

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 59 KB

english, 1996

17

Erratum

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 2.78 MB

english, 1996

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