Volume 104; Issue 5

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Human Genetics
Volume 104; Issue 5

Human Genetics

Volume 104; Issue 5

1

Allelic polymorphisms and RFLP in the human immunoglobulin lambda light chain locus

Marie-Paule Lefranc, Nathalie Pallarès, Jean-Pol Frippiat

Journal:

Year:

1999

Language:

english

File:

PDF, 160 KB

english, 1999

2

Combined RxFISH/G-banding allows refined karyotyping of solid tumors

Francesca Micci, Manuel R. Teixeira, Claudia U. Dietrich, Gunnar Sæter, Bodil Bjerkehagen, Sverre Heim

Journal:

Year:

1999

Language:

english

File:

PDF, 159 KB

english, 1999

3

A high degree of aneuploidy in frozen-thawed human preimplantation embryos

E. Iwarsson, Monalill Lundqvist, José Inzunza, Lars Ährlund-Richter, Peter Sjöblom, Örjan Lundkvist, Niklas Simberg, Magnus Nordenskjöld, Elisabeth Blennow

Journal:

Year:

1999

Language:

english

File:

PDF, 151 KB

english, 1999

4

The mutation spectrum of the bestrophin protein – functional implications

B. Bakall, Towa Marknell, Sofie Ingvast, Markus J. Koisti, Ola Sandgren, Wen Li, Arthur A. B. Bergen, Sten Andreasson, Tomas Rosenberg, Konstantin Petrukhin, Claes Wadelius

Journal:

Year:

1999

Language:

english

File:

PDF, 185 KB

english, 1999

5

Phenylketonuria mutations in Germany

J. Zschocke, Georg F. Hoffmann

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Year:

1999

Language:

english

File:

PDF, 80 KB

english, 1999

6

Enrichment of fetal trophoblasts and nucleated erythrocytes from maternal blood by an immunomagnetic colloid system

Tse Hui Lim, Ann Tan, Victor Hng Hang Goh

Journal:

Year:

1999

Language:

english

File:

PDF, 49 KB

english, 1999

7

Estimates of sperm sex chromosome disomy and diploidy rates in a 47,XXY/46,XY mosaic Klinefelter patient

Alvin Soon Tiong Lim, Yang Fong, Su Ling Yu

Journal:

Year:

1999

Language:

english

File:

PDF, 43 KB

english, 1999

8

Exclusion ofRAI2as the causative gene for Nance-Horan syndrome

Susannah M. Walpole, Nathalie Ronce, Celene Grayson, Benoît Dessay, John R. W. Yates, D. Trump, Annick Toutain

Journal:

Year:

1999

Language:

english

File:

PDF, 28 KB

english, 1999

9

Multicolor fluorescence in situ hybridization analysis of the spermatozoa of a male heterozygous for a reciprocal translocation t(11;22)(q23;q11)

Anna M. Estop, Kathy M. Cieply, Santiago Munne, Eleanor Feingold

Journal:

Year:

1999

Language:

english

File:

PDF, 110 KB

english, 1999

10

A group of schwannomas with interstitial deletions on 22q located outside theNF2locus shows no detectable mutations in theNF2gene

Carl E. G. Bruder, Koichi Ichimura, O. Tingby, Kimiyoshi Hirakawa, Atsushi Komatsuzaki, Akira Tamura, Yasuhito Yuasa, V. Peter Collins, J. P. Dumanski

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Year:

1999

Language:

english

File:

PDF, 120 KB

english, 1999

11

Analysis of the mutational spectrum of theFGFR2gene in Pfeiffer syndrome

Laura R. Cornejo-Roldan, Erich Roessler, M. Muenke

Journal:

Year:

1999

Language:

english

File:

PDF, 91 KB

english, 1999

12

Association between coding variability in the LRP gene and the risk of late-onset Alzheimer’s disease

Fabienne Wavrant-DeVrièze, Jean-Charles Lambert, L. Stas, Richard Crook, Dominique Cottel, Florence Pasquier, Bernard Frigard, Martine Lambrechts, E. Thiry, Philippe Amouyel, J. Pérez-Tur, M. C. Chart

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Year:

1999

Language:

english

File:

PDF, 30 KB

english, 1999

13

A deletion/insertion leading to the generation of a direct repeat as a result of slipped mispairing and intragenic recombination in the factor VIII gene

Kamiab Tavassoli, Antonin Eigel, Jürgen Horst

Journal:

Year:

1999

Language:

english

File:

PDF, 56 KB

english, 1999

14

Neurofibromatosis type 1 from genotype to phenotype: M. Upadhyaya and D. N. Cooper BIOS Scientific Publishers (230 pages), ISBN 1-859-961 91-6, £67.50, Hardback

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Year:

1999

Language:

english

File:

PDF, 14 KB

english, 1999

15

Genetics and tuberculosis. Novartis Foundation Symposium 217: D. J. Chadwick, G. Cardew (Editors) John Wiley and Sons (269 pages), ISBN 0-471-98261-X, £ 57.50, Hardcover

Melanie Newport

Journal:

Year:

1999

Language:

english

File:

PDF, 18 KB

english, 1999

16

Gene Symbol: AGXT Disease: Primary Hyperoxaluria type I

A. Amoroso, D. Pirulli, D. Puzzer, L. Ferri, S. Crovella, C. Ferrettini, M. Marangella, G. Mazzola, F. Florian

Journal:

Year:

1999

File:

PDF, 11 KB

1999