Search  -  prev / next

virtual library in human genetics and molecular biology

Commentary

247 Mapping by Sequence Homology
Antonarakis, S.E. (Geneva)

Original Papers

250 A 10-cM YAC Contig Spanning GLC1A, the Primary Open-Angle Glaucoma Locus at 1q23-q25
Clépet, C.; Dauwerse, H.J.G.; Desmaze, C.; van Ommen, G.-J.B.; Weissenbach, J.; Morissette, J. (Evry/Leiden/Québec)

260 Pure Familial Spastic Paraplegia: Clinical and Genetic Analysis of Nine Belgian Pedigrees
De Jonghe, P.; Krols, L.; Michalik, A.; Hazan, J.; Smeyers, G.; Löfgren, A.; Weissenbach, J.; Martin, J.-J.; Van Broeckhoven, C. (Antwerp/Paris/Evry)

267 Confinement of PGL, an Imprinted Gene Causing Hereditary Paragangliomas, to a 2-cM Interval on 11q22-q23 and Exclusion of DRD2 and NCAM as Candidate Genes
van Schothorst, E.M.; Jansen, J.C.; Bardoel, A.F.J.; van der Mey, A.G.L.; James, M.J.; Sobol, H.; Weissenbach, J.; van Ommen, G.-J.B.; Cornelisse, C.J.; Devilee, P. (Leiden/Oxford/Evry)

274 A Systematic Analysis of the Mutations of the Uroporphyrinogen III Synthase Gene in Congenital Erythropoietic Porphyria
Fontanellas, A.; Bensidhoum, M.; Enriquez de Salamanca, R.; Moruno Tirado, A.; de Verneuil, H.; Ged, C. (Madrid/Bordeaux/Huelva)

283 Spectrum of Craniosynostosis Phenotypes Associated with Novel Mutations at the Fibroblast Growth Factor Receptor 2 Locus
Pulleyn, L.J.; Reardon, W.; Wilkes, D.; Rutland, P.; Jones, B.M.; Hayward, R.; Hall, C.M.; Brueton, L.; Chun, N.; Lammer, E.; Malcolm, S.; Winter, R.M. (London/Harrow/Stanford, Calif.)

Erratum

291 Tetrasomy 18p de novo: Parental Origin and Different Mechanisms of Formation
Bugge, M.; Blennow, E.; Friedrich, U.; Petersen, M.B.; Pedeutour, F.; Tsezou, A.; Ørum, A.; Hermann, S.; Lyngbye, T.; Sarri, C.; Avramopoulos, D.; Kitsiou, S.; Lambert, J.C.; Guzda, M.; Tommerup, N.; Brøndum-Nielsen, K. (Glostrup/Stockholm/Aarhus/Søborg/Gentofte/Athens/Nice)

Short Reports

292 Fibulin-2: Genetic Mapping and Exclusion as a Candidate Gene in Marfan Syndrome Type 2
Collod, G.; Chu, M.-L.; Sasaki, T.; Coulon, M.; Timpl, R.; Renkart, L.; Weissenbach, J.; Jondeau, G.; Bourdarias, J.-P.; Junien, C.; Boileau, C. (Paris/Philadelphia, Pa./Munich/Evry/Boulogne)

296 Phenylalanine Hydroxylase Gene Mutation R408W Is Present on 84% of Estonian Phenylketonuria Chromosomes
Lilleväli, H.; Õunap, K.; Metspalu, A. (Tartu)

301 Arylsulfatase A Pseudodeficiency – Incidence in Poland
Czartoryska, B.; Zimowski, J.G.; Bisko, M.; Górska, D. (Warsaw)

304 Announcement

Generated by documents 5.0 by Kai Garlipp
WWW: Kai Garlipp, Frank S. Zollmann.
7.0 © 1995-2023 HUM-MOLGEN. All rights reserved. Liability and Copyright.