Genomes and Genes
- Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1Anne Gregor
Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
BMC Med Genet 12:106. 2011..Recently, homozygous or compound heterozygous defects in either gene were reported as causative for severe intellectual disability...
- Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of FallotRalf Rauch
Institute of Medical Genetics, Schorenstrasse 16, CH 8603 Zurich Schwerzenbach, Switzerland
J Med Genet 47:321-31. 2010..In order to get further insight into genotype-phenotype correlation, a large cohort of 230 unselected patients with ToF was comprehensively investigated...
- The shortest of the short: pericentrin mutations and beyondAnita Rauch
Institute of Medical Genetics, Schorenstrasse 16, Schwerzenbach Zurich, Switzerland
Best Pract Res Clin Endocrinol Metab 25:125-30. 2011..There is clinical overlap with the so called Seckel syndrome, a heterogeneous group of entities with at least four different gene loci known to date...
- Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disabilityReza Asadollahi
Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
Eur J Hum Genet 21:1100-4. 2013..The clinical features suggesting a neurocristopathy may be explained by animal model studies indicating involvement of the Mediator complex subunit 13 in neural crest induction...
- Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuriaDeborah Bartholdi
Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland
Am J Med Genet A 161:1853-9. 2013..In conclusion, we report the first patients with a homozygous 2p21 deletion syndrome without cystinuria and further delineate the complex genotype-phenotype correlations of homozygous microdeletion syndromes of this region...