Concepedia

Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf–Hirschhorn syndrome

Klara Flipsen-ten Berg, Peter M. van Hasselt, Marc J. Eleveld, Suzanne E van der Wijst, Frans A. Hol, Monique A M de Vroede, Frits A. Beemer, P F R Hochstenbach, Martin Poot

European Journal of Human Genetics · 2007 · 110 citations · 21 references

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References

21

Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein

Tim M. Strom · Human Molecular Genetics · 1998 · 482 citations · Full text

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Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities

Lisenka E.L.M. Vissers, Bert B.A. de Vries, Kazutoyo Osoegawa et al. · The American Journal of Human Genetics · 2003 · 473 citations · Full text

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Olfactory Receptor–Gene Clusters, Genomic-Inversion Polymorphisms, and Common Chromosome Rearrangements

Sabrina Giglio, Karl W. Broman, Naomichi Matsumoto et al. · The American Journal of Human Genetics · 2001 · 398 citations · Full text

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A truncated human chromosome 16 associated with α thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n

Andrew O.M. Wilkie, Janette Lamb, Peter C. Harris et al. · Nature · 1990 · 295 citations

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An Optimized Set of Human Telomere Clones for Studying Telomere Integrity and Architecture

Samantha J.L. Knight, Christa M. Lese, Kathrin S. Precht et al. · The American Journal of Human Genetics · 2000 · 292 citations · Full text

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