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Genomes and Genes | Jurgen KohlhaseSummaryCountry: Germany Publications
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Publications
Cloning and expression analysis of SALL4, the murine homologue of the gene mutated in Okihiro syndromeJ Kohlhase
Institut fur Humangenetik, Georg August Universitat Gottingen, Heinrich Düker Weg 12, 37073 Gottingen, Germany
Cytogenet Genome Res 98:274-7. 2002..Prominent expression in the developing midbrain, branchial arches and the limbs suggests an important function of SALL4 during development of these structures as expected from the observation in Okihiro syndrome patients...- Okihiro syndrome is caused by SALL4 mutationsJurgen Kohlhase
Institut fur Humangenetik, Universitat Gottingen, Heinrich Düker Weg 12, 37073 Gottingen, Germany
Hum Mol Genet 11:2979-87. 2002..We here present evidence in 5 of 8 affected families that mutation at this locus results in the Okihiro syndrome phenotype... 
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 embryopathyJ Kohlhase
Institute for Human Genetics, University of Gottingen, Heinrich Düker Weg 12, 37073 Gottingen, Germany
J Med Genet 40:473-8. 2003..Furthermore we confirm the overlap of acro-renal-ocular syndrome with Okihiro syndrome at the molecular level and expand the phenotype of SALL4 mutations...- First confirmed case with paternal uniparental disomy of chromosome 16J Kohlhase
Institut fur Humangenetik, Universitat Gottingen, Gottingen, Germany
Am J Med Genet 91:190-1. 2000..Our results indicate that isodisomic upd(16)pat is associated with a normal outcome if no recessive mutation is reduced to homozygosity... - SALL3, a new member of the human spalt-like gene family, maps to 18q23J Kohlhase
Institut fur Humangenetik, Universitat Gottingen, Germany
Genomics 62:216-22. 1999..The chromosomal localization of SALL3 at 18q23 suggests that haploinsufficiency of this gene might contribute to the phenotype of patients with 18q deletion syndrome... - Molecular cloning of a SALL1-related pseudogene and mapping to chromosome Xp11.2J Kohlhase
Institut fur Humangenetik, Universitat Gottingen, Gottingen, Germany
Cytogenet Cell Genet 84:31-4. 1999..The high similarity of SALL1P to SALL1 is of considerable importance for mutation analysis of SALL1 in TBS... - Molecular analysis of SALL1 mutations in Townes-Brocks syndromeJ Kohlhase
Institute for Human Genetics, University of Gottingen, Gosslerstr 12d, D 37073Göttingen, Germany
Am J Hum Genet 64:435-45. 1999..We also present evidence that in rare cases SALL1 mutations can lead to phenotypes similar to Goldenhar syndrome. However, phenotypic differences in TBS do not seem to depend on the site of mutation... - Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndromeJ Kohlhase
Institut für Humangenetik der Universität Göttingen, Germany
Nat Genet 18:81-3. 1998..TBS therefore represents another human developmental disorder caused by mutations in a putative C2H2 zinc-finger transcription factor... - Molecular cloning, chromosomal localization, and expression of the murine SALL1 ortholog Sall1A Buck
Institut fur Humangenetik, Universitat Gottingen, Gottingen, Germany
Cytogenet Cell Genet 89:150-3. 2000..Sequence comparison, Northern blot hybridization as well as the conserved chromosome location on the homologous mouse chromosome indicate that we have indeed isolated the murine homolog of SALL1... 
Two adults with Rubinstein-Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingersDagmar Wieczorek
Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstr 55, 45122 Essen, Germany
Am J Med Genet A 149:2849-54. 2009..In addition, they have both congenital camptodactyly of third (and fourth) fingers, which has not reported in RTS previously. We suggest that they represent a clinical subtype of RTS...- Isolation, characterization, and organ-specific expression of two novel human zinc finger genes related to the Drosophila gene spaltJ Kohlhase
Abteilung Molekulare Entwicklungsbiologie, Max Planck Institut fur biophysikalische Chemie, Am Fassberg, Gottingen, D 37077, Germany
Genomics 38:291-8. 1996.... - Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother?Dagmar Wieczorek
Institut fur Humangenetik, Universitatsklinikum Essen, Germany, and Department of Medical Genetics, Addenbrooke s Hospital, Cambridge, UK
Am J Med Genet A 143:1135-42. 2007..We discuss autosomal dominant inheritance with variable expressivity or mosaicism in the mother as the likely genetic mechanism in this new multiple congenital anomaly/mental retardation (MCA/MR) syndrome... - Interaction of the developmental regulator SALL1 with UBE2I and SUMO-1Christian Netzer
Institute of Human Genetics, University of Gottingen, Heinrich Düker Weg 12, 37073 Gottingen, Germany
Biochem Biophys Res Commun 296:870-6. 2002..Mutation of lysine 1086 of SALL1 to arginine abrogates SALL1 sumoylation, suggesting the presence of a polymeric SUMO-1 chain in the wild type state... - SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatinC Netzer
Institute of Human Genetics, University of Gottingen, Heinrich Düker Weg 12, 37073 Gottingen, Germany
Hum Mol Genet 10:3017-24. 2001..We have also provided new evidence that there is a close functional link between the centromeric and telomeric heterochromatin domains not only in Drosophila and yeast, but also in mammalian cells... - Embryonic expression of the murine homologue of SALL1, the gene mutated in Townes--Brocks syndromeA Buck
Institut fur Humangenetik, Georg August Universitat Gottingen, Heinrich Düker Weg 12, 37073 Gottingen, Germany
Mech Dev 104:143-6. 2001..Other sites of expression include the meso- and metanephros, lens, olfactory bulbs, heart, primitive streak and the genital tubercle. Hence, Sall1 expression to a large degree reflects the structures affected in human TBS... - Genomic cloning, chromosomal mapping, and expression analysis of msal-2J Kohlhase
Institut für Humangenetik der Universität Göttingen, Heinrich Düker Weg 12, D 37073 Gottingen, Germany
Mamm Genome 11:64-8. 2000..Msal-2 is expressed throughout embryonic development but also in adult tissues, predominantly in brain. However, the function of SALL2/Msal-2 still needs to be determined... - Five patients with novel overlapping interstitial deletions in 8q22.2q22.3Alma Kuechler
Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
Am J Med Genet A 155:1857-64. 2011..3 may represent a clinically recognizable condition characterized particularly by the facial phenotype and developmental delay. More patients have to be evaluated to establish a phenotype-genotype correlation. © 2011 Wiley-Liss, Inc... - Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1Diana Mitter
Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
Am J Med Genet A 152:1213-24. 2010..This should help to link particular phenotypes to specific genes, and add to our understanding of the underlying developmental processes... - Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndromeNicole Zimmermann
Institute for Human Genetics, Johannes Gutenberg University, Mainz, Germany
Eur J Hum Genet 15:837-42. 2007....