Volume 104; Issue 3

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Human Genetics
Volume 104; Issue 3

Human Genetics

Volume 104; Issue 3

1

Structural and mutational analysis ofKCNQ2, the major gene locus for benign familial neonatal convulsions

Christian Biervert, O. K. Steinlein

Journal:

Year:

1999

Language:

english

File:

PDF, 82 KB

english, 1999

2

Fine-resolution mapping by haplotype evaluation: the examples ofPFIC1andBRIC

Laura N. Bull, Jenneke A. Juijn, Mira Liao, Michiel J. T. van Eijk, Richard J. Sinke, Nicole L. Stricker, Joseph A. DeYoung, Victoria E. H. Carlton, Siamak Baharloo, L. W. J. Klomp, Daiki Abukawa, Dav

Journal:

Year:

1999

Language:

english

File:

PDF, 493 KB

english, 1999

3

Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan

Steven Shoei-Lung Li, H.-M. Tseng, Tsui-Ping Yang, Chia-Han Liu, Shiuh-Jen Teng, Hung-Wen Huang, L.-M. Chen, Hsiao-Wei Kao, Jimmy H. Chen, Jau-Neng Tseng, Angela Chen, Ming-Feng Hou, Tsung-Jen Huang,

Journal:

Year:

1999

Language:

english

File:

PDF, 69 KB

english, 1999

4

Functional analysis of the p57KIP2gene mutation in Beckwith-Wiedemann syndrome

Zahurul A. Bhuiyan, Hitomi Yatsuki, Toshiyuki Sasaguri, Keiichiro Joh, Hidenobu Soejima, Xike Zhu, Izuho Hatada, Hiroko Morisaki, Takayuki Morisaki, Tsunehiro Mukai

Journal:

Year:

1999

Language:

english

File:

PDF, 193 KB

english, 1999

5

Amplification of a pseudogene cassette underlies euchromatic variation of 16p at the cytogenetic level

J. C. K. Barber, Caroline J. Reed, CSophie P. Dahoun, Christine A. Joyce, S. P Dahoun

Journal:

Year:

1999

Language:

english

File:

PDF, 209 KB

english, 1999

6

Repositioning the hereditary paraganglioma critical region on chromosome band 11q23

B. E. Baysal, E. M. van Schothorst, Joan E. Farr, P. Grashof, David Myssiorek, Wendy S. Rubinstein, Peter Taschner, Cees J. Cornelisse, B. Devlin, Peter Devilee, C. W. Richard III.

Journal:

Year:

1999

Language:

english

File:

PDF, 77 KB

english, 1999

7

A genome-wide scan for loci linked to forearm bone mineral density

Tianhua Niu, Changzhong Chen, Heather Cordell, Jianhua Yang, Binyan Wang, Zhaoxi Wang, Zhian Fang, Nicholas J. Schork, Clifford J. Rosen, X. Xu

Journal:

Year:

1999

Language:

english

File:

PDF, 87 KB

english, 1999

8

Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother

S. M. Tanner, K. H. Ørstavik, M. Kristiansen, D. Lev, T. Lerman-Sagie, M. Sadeh, S. Liechti-Gallati

Journal:

Year:

1999

Language:

english

File:

PDF, 94 KB

english, 1999

9

Mapping of the kinesin-related gene ATSV to chromosome 2q37

Marcel P. Keller, Beth A. Seifried, Bruce A. Rabin, Phillip F. Chance

Journal:

Year:

1999

Language:

english

File:

PDF, 63 KB

english, 1999

10

Significance of the CAG repeat length in the androgen receptor gene (AR) for the transactivation function of an M780I mutant AR

Ingrid Knoke, Axel Allera, P. Wieacker

Journal:

Year:

1999

Language:

english

File:

PDF, 57 KB

english, 1999

11

Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy

Juliet A. Ellis, John R. W. Yates, John Kendrick-Jones, C. A. Brown

Journal:

Year:

1999

Language:

english

File:

PDF, 326 KB

english, 1999

12

Association of polymorphisms in the β2-adrenoreceptor gene with higher levels of parasitic infection

Claire E. Ramsay, Catherine M. Hayden, Katrina J. Tiller, Paul R. Burton, Isabel Hagel, Miguel Palenque, Neil R. Lynch, Jack Goldblatt, Peter N. LeSouëf

Journal:

Year:

1999

Language:

english

File:

PDF, 56 KB

english, 1999

13

Molecular diagnosis of type 1c glycogen storage disease

A. R. Janecke, Nils U. Bosshard, Ertan Mayatepek, Andreas Schulze, Richard Gitzelmann, Ann Burchell, Claus R. Bartram, Bart Janssen

Journal:

Year:

1999

Language:

english

File:

PDF, 72 KB

english, 1999

14

Mutation detection: R.G.H. Cotton Oxford University Press (198 pages), ISBN 0-19-85488-5, US $ 45.00, Paperback

Journal:

Year:

1999

Language:

english

File:

PDF, 14 KB

english, 1999

15

Congenital Anomalies of the Ear, Nose and Throat: Ted L. Tewfik and Vazken M. Der Kaloustian (Editors) Oxford University Press (596 pages), ISBN 0-19-507784-9, £ 130.00, Hardcover

Journal:

Year:

1999

Language:

english

File:

PDF, 18 KB

english, 1999

16

Epigenetics: Derek J Chadwick (Organiser) and Gail Cardew (Editors) John Wiley and Sons Ltd (305 pages), ISBN 0-471-97771-3, £57.50, Hardback

Journal:

Year:

1999

Language:

english

File:

PDF, 12 KB

english, 1999

17

Finding Mutations: J. Ross Hawkins BIOS Scientific Publishers Ltd (160 pages), ISBN 0-199-63611-7, £ 12.99, Paperback

David J. Bunyan

Journal:

Year:

1999

Language:

english

File:

PDF, 16 KB

english, 1999

18

DNA fingerprinting: M. Krawczak and J. Schmidtke BIOS Scientific Publishers (128 pages, second edition), ISBN 1-85996-062-6, £18.95, Paperback

Journal:

Year:

1999

Language:

english

File:

PDF, 11 KB

english, 1999

19

The person behind the syndrome: Peter Beighton and Greta Beighton Springer-Verlag (231 pages), ISBN 3-540-76044-X, US $ 59.00, Hardback

Michael Baraitser

Journal:

Year:

1999

Language:

english

File:

PDF, 13 KB

english, 1999

20

Inherited susceptibility to cancer. Clinical, predictive ethical prospectives: William D. Foulkes and Shirley V Hodgson (Editors) Cambridge University Press (470 pages), ISBN 0-521-56340-2, US $ 95.00, Hardcover

Journal:

Year:

1999

Language:

english

File:

PDF, 13 KB

english, 1999

21

DNA Damage and Repair. Volume II: DNA Repair in Higher Eukaryotes: Jac A. Nickoloff and Merl F. Hoekstra (Editors) Humana Press (672 pages), ISBN 0-896-03500-X, US $ 125.00, Hardcover

Journal:

Year:

1999

Language:

english

File:

PDF, 13 KB

english, 1999

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