Genetic screening / counselling

De novo deletion (14)(q11.2q13) including PAX9: clinical and molecular findings
Simone Schuffenhauer, Hans-Jürgen Leifheit, Peter Lichtner, Heiko Peters, Jan Murken, P Emmerich

Journal of Medical Genetics Mar 1999, 36 (3) 233-236; DOI: 10.1136/jmg.36.3.233
A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region
Ben C J Hamel, Pieter Wesseling, Willy O Renier, Bellinda van den Helm, Hans-Hilger Ropers, Hannie Kremer, Edwin C M Mariman

Journal of Medical Genetics Feb 1999, 36 (2) 140-143; DOI: 10.1136/jmg.36.2.140
Homozygosity mapping to the USH2A locus in two isolated populations
T Fagerheim, P Raeymaekers, J Merren, K Mani, G K Jha, L Baumbach, V Brox, E Breines, B E Holdø, A Holdø, L Tranebjærg

Journal of Medical Genetics Feb 1999, 36 (2) 144-147; DOI: 10.1136/jmg.36.2.144
Cystic fibrosis carrier frequencies in populations of African origin
Carolyn Padoa, Andrea Goldman, Trefor Jenkins, Michele Ramsay

Journal of Medical Genetics Jan 1999, 36 (1) 41-44; DOI: 10.1136/jmg.36.1.41

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