Kohlhase, Jürgen

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

Endele, S., Rosenberger, G., Geider, K., Popp, B., Tamer, C., Stefanova, I., Milh, M., Kortüm, F., Fritsch, A., Pientka, F. K., et al. (2010) · Nature Genetics

Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology Research

Cited by 499

Okihiro syndrome is caused by SALL4 mutations

Kohlhase, J. (2002) · Human Molecular Genetics

Congenital limb and hand anomaliesGenomics and Rare Diseases

Cited by 320

Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy

Kohlhase, J., Schubert, L., Liebers, M., Rauch, A., Becker, K., Mohammed, S. N., Newbury-Ecob, R., & Reardon, W. (2003) · Journal of Medical Genetics

Genomics and Rare DiseasesCongenital limb and hand anomalies

Cited by 185

Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome

Kohlhase, J., Taschner, P. E. M., Burfeind, P., Pasche, B., Newman, B., Blanck, C., Breuning, M. H., ten Kate, L. P., Maaswinkel-Mooy, P., Mitulla, B., et al. (1999) · The American Journal of Human Genetics

Genomics and Rare DiseasesCongenital limb and hand anomalies

Cited by 152

Isolation, Characterization, and Organ-Specific Expression of Two Novel Human Zinc Finger Genes Related to theDrosophilaGenespalt

Kohlhase, J., Schuh, R., Dowe, G., Kühnlein, R. P., Jäckle, H., Schroeder, B., Schulz-Schaeffer, W., Kretzschmar, H. A., Köhler, A., Müller, U., et al. (1996) · Genomics

Developmental Biology and Gene RegulationGenomics and Chromatin Dynamics

Cited by 145

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

Gregor, A., Albrecht, B., Bader, I., Bijlsma, E. K., Ekici, A. B., Engels, H., Hackmann, K., Horn, D., Hoyer, J., Klapecki, J., et al. (2011) · BMC Medical Genetics

Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

Cited by 121

Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination

Vandewalle, J., Van Esch, H., Govaerts, K., Verbeeck, J., Zweier, C., Madrigal, I., Mila, M., Pijkels, E., Fernandez, I., Kohlhase, J., et al. (2009) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 86

Cloning and expression analysis of Sall4, the murine homologue of the gene mutated in Okihiro syndrome

Kohlhase, J., Heinrich, M., Liebers, M., Fröhlich Archangelo, L., Reardon, W., & Kispert, A. (2002) · Cytogenetic and Genome Research

Developmental Biology and Gene RegulationCongenital limb and hand anomalies

Cited by 82

A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome

Miertus, J., Borozdin, W., Frecer, V., Tonini, G., Bertok, S., Amoroso, A., Miertus, S., & Kohlhase, J. (2006) · Human Genetics

Genomics and Rare DiseasesCraniofacial Disorders and Treatments

Cited by 39