Volume 103; Issue 5

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Human Genetics
Volume 103; Issue 5

Human Genetics

Volume 103; Issue 5

1

Confirmation ofFWT1as a Wilms’ tumour susceptibility gene and phenotypic characteristics of Wilms’ tumour attributable toFWT1

N. Rahman, Fatima Abidi, Deborah Ford, Laura Arbour, Elizabeth Rapley, Patricia Tonin, David Barton, Gillian Batcup, J. Berry, Finbarr Cotter, Val Davison, Mary Gerrard, Elizabeth Gray, Richard Grundy

Journal:

Year:

1998

Language:

english

File:

PDF, 119 KB

english, 1998

2

Evaluation of methylation analysis for diagnostic testing in 258 referrals suspected of Prader-Willi or Angelman syndromes

Tina Buchholz, Julianne Jackson, Lisa Robson, A. Smith

Journal:

Year:

1998

Language:

english

File:

PDF, 35 KB

english, 1998

3

Transmission disequilibrium and sequence variants at the leptin receptor gene in extremely obese German children and adolescents

H. Roth, Tina Korn, Karen Rosenkranz, Anke Hinney, Andreas Ziegler, Jürgen Kunz, Wolfgang Siegfried, Hermann Mayer, Johannes Hebebrand, Karl-Heinz Grzeschik

Journal:

Year:

1998

Language:

english

File:

PDF, 84 KB

english, 1998

4

The nuclear-encoded human NADH:ubiquinone oxidoreductase NDUFA8 subunit: cDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patients

Ralf Triepels, L. van den Heuvel, J. Loeffen, Roel Smeets, Frans Trijbels, Jan Smeitink

Journal:

Year:

1998

Language:

english

File:

PDF, 170 KB

english, 1998

5

Mitotic and meiotic instability of the CAG trinucleotide repeat in spinocerebellar ataxia type 1

Pernille Koefoed, L. Hasholt, Kirsten Fenger, Jørgen E. Nielsen, Hans Eiberg, Karsten Buschard, Sven Asger Sørensen

Journal:

Year:

1998

Language:

english

File:

PDF, 64 KB

english, 1998

6

Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in the non-erythroid variant form of acute intermittent porphyria

Hervé Puy, Ulrich Groß, Jean Charles Deybach, Anne Marie Robréau, Margareta Frank, Yves Nordmann, Manfred Doss

Journal:

Year:

1998

Language:

english

File:

PDF, 83 KB

english, 1998

7

Change of bone mass in postmenopausal Caucasian women with and without hormone replacement therapy is associated with vitamin D receptor and estrogen receptor genotypes

H.-W. Deng, Jian Li, Jin-Long Li, Mark Johnson, Gordon Gong, K. Michael Davis, Robert R. Recker

Journal:

Year:

1998

Language:

english

File:

PDF, 62 KB

english, 1998

8

Alteration of theLIS1gene in Japanese patients with isolated lissencephaly sequence or Miller-Dieker syndrome

M. Sakamoto, Jiro Ono, Shintaro Okada, Mitsuo Masuno, Yusuke Nakamura, Hiroki Kurahashi

Journal:

Year:

1998

Language:

english

File:

PDF, 89 KB

english, 1998

9

Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes

X. Meng, Xiaojun Lu, Zhizhong Li, Eric D. Green, Hillary Massa, Barbara J. Trask, Colleen A. Morris, Mark T. Keating

Journal:

Year:

1998

Language:

english

File:

PDF, 409 KB

english, 1998

10

Neurofibromatosis pseudogene amplification underlies euchromatic cytogenetic duplications and triplications of proximal 15q

J. C. K. Barber, I. E. Cross, Fiona Douglas, James C. Nicholson, Kirk J. Moore, Caroline E. Browne

Journal:

Year:

1998

Language:

english

File:

PDF, 220 KB

english, 1998

11

Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): confirmation of linkage to human chromosome 16p12-q12 in a Chinese family

Wei-Ling Lee, A. Tay, Hian-Tat Ong, Li-Meng Goh, Anthony P. Monaco, Pierre Szepetowski

Journal:

Year:

1998

Language:

english

File:

PDF, 54 KB

english, 1998

12

Molecular characterization of phenylketonuria in Japanese patients

Y. Okano, Minoru Asada, Youngbo Kang, Yasuaki Nishi, Yutaka Hase, Toshiaki Oura, Gen Isshiki

Journal:

Year:

1998

Language:

english

File:

PDF, 45 KB

english, 1998

13

Identification of de novo chromosomal markers and derivatives by spectral karyotyping

B. R. Haddad, Evelin Schröck, Jeanne Meck, Janet Cowan, Hannah Young, Malcolm A. Ferguson-Smith, Stanislas du Manoir, Thomas Ried

Journal:

Year:

1998

Language:

english

File:

PDF, 223 KB

english, 1998

14

FRAXE : theHindIII/OXE20 restriction polymorphism is not a rare variant

M. Blayau, Sylvie Odent, Christèle Dubourg, Véronique David

Journal:

Year:

1998

Language:

english

File:

PDF, 26 KB

english, 1998

15

The origins of Native Americans: evidence from anthropological genetics: Michael H. Crawford Cambridge University Press (308 pages), ISBN 0-521-59280-1, US $ 64.95, Hardcover

Derek F. Roberts

Journal:

Year:

1998

Language:

english

File:

PDF, 18 KB

english, 1998

16

Principles of molecular medicine: J. Larry Jameson (Editor) Humana Press (1156 pages), ISBN 0-896-03529-8, US $175, Hardcover

Journal:

Year:

1998

Language:

english

File:

PDF, 13 KB

english, 1998

17

Mental disorders and genetics: the ethical context. Nuffield Council on Bioethics – 1998 Nuffield Council on Bioethics, 28 Bedford Square, London WC 1 3EG, UK (http:/www.nuffield.org),(117 pages), ISBN 0-9522701-3-7, GB £20 plus postage, from publisher

Journal:

Year:

1998

Language:

english

File:

PDF, 15 KB

english, 1998

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