Human Genetics

Search all Human Genetics articles

Volume 104, Issue 5

June 1999

16 articles in this issue

Allelic polymorphisms and RFLP in the human immunoglobulin lambda light chain locus
Marie-Paule Lefranc
Nathalie Pallarès
Jean-Pol Frippiat
Review article Pages: 361 - 369
Combined RxFISH/G-banding allows refined karyotyping of solid tumors
Francesca Micci
Manuel R. Teixeira
Sverre Heim
Original investigation Pages: 370 - 375
A high degree of aneuploidy in frozen-thawed human preimplantation embryos
E. Iwarsson
Monalill Lundqvist
Elisabeth Blennow
Original investigation Pages: 376 - 382
The mutation spectrum of the bestrophin protein – functional implications
B. Bakall
Towa Marknell
Claes Wadelius
Original investigation Pages: 383 - 389
Phenylketonuria mutations in Germany
J. Zschocke
Georg F. Hoffmann
Original investigation Pages: 390 - 398
Enrichment of fetal trophoblasts and nucleated erythrocytes from maternal blood by an immunomagnetic colloid system
Tse Hui Lim
Ann Tan
Victor Hng Hang Goh
Original investigation Pages: 399 - 404
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
Original Investigation Pages: 405 - 409
Exclusion of RAI2 as the causative gene for Nance-Horan syndrome
Susannah M. Walpole
Nathalie Ronce
Annick Toutain
Original investigation Pages: 410 - 411
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
Eleanor Feingold
Original investigation Pages: 412 - 417
A group of schwannomas with interstitial deletions on 22q located outside the NF2 locus shows no detectable mutations in the NF2 gene
Carl E. G. Bruder
Koichi Ichimura
J. P. Dumanski
Original investigation Pages: 418 - 424
Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome
Laura R. Cornejo-Roldan
Erich Roessler
M. Muenke
Original investigation Pages: 425 - 431
Association between coding variability in the LRP gene and the risk of late-onset Alzheimer’s disease
Fabienne Wavrant-DeVrièze
Jean-Charles Lambert
Fred Van Leuven
Short Report Pages: 432 - 434
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
Food for thought Pages: 435 - 437
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
Richard Hughes
Book review Pages: 438 - 438
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
Book review Pages: 439 - 440
Gene Symbol: AGXT Disease: Primary Hyperoxaluria type I
A. Amoroso
D. Pirulli
F. Florian
Human gene mutations Pages: 441 - 441

Volume 104, Issue 5

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

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

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

The mutation spectrum of the bestrophin protein – functional implications

Phenylketonuria mutations in Germany

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

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

Exclusion of RAI2 as the causative gene for Nance-Horan syndrome

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

A group of schwannomas with interstitial deletions on 22q located outside the NF2 locus shows no detectable mutations in the NF2 gene

Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome

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

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

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

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

Gene Symbol: AGXT Disease: Primary Hyperoxaluria type I

Journal navigation