|  | | |  | | 2008
Schumann H, Has C, Kohlhase J, Bruckner-Tuderman L (2008). Dystrophic epidermolysis bullosa pruriginosa is not associated with frequent FLG gene mutations. Br J Dermatol 159:464-469.
Has C, Ludwig RJ, Herz C, Kern JS, Ussar S, Ochsendorf FR, Kaufmann R, Schumann H, Kohlhase J, Bruckner-Tuderman L (2008). C-terminally truncated kindlin-1 leads to abnormal adhesion and migration of keratinocytes. Br J Dermatol 2008 Jul 22. [Epub ahead of print]
Fischer S, Kohlhase J, Böhm D, Heitmann M, Schweiger B, Hoffmann D, Horsthemke B, Wieczorek D (2008). Biallelic Loss of Function of the Promyelocytic Leukemia Zinc Finger (PLZF) Gene Causes Severe Skeletal Defects and Genital Hypoplasia. J Med Genet. 2008 Jul 8. [Epub ahead of print]
Blaumeiser B, Oehl-Jaschkowitz B, Borozdin W, Kohlhase J (2008) Feingold syndrome associated with two novel MYCN mutations in sporadic and
familial cases including monozygotic twins. Am J Med Genet 146A:2304-2307.
Haus AH, Kohlhase J, Käsmann B, Seitz B (2008) [Okihiro syndrome: Duane's syndrome and radial malformations of the limbs.] Ophthalmologe 105:588-591.
Unger S*, Böhm D*, Kaiser FJ, Kaulfuß S, Borozdin W, Buiting K, Burfeind P, Böhm J, Barrionuevo F, Craig A, Borowski K, Keppler-Noreuil K, Schmitt-Mechelke T, Steiner B, Bartholdi D, Lemke J, Mortier G, Sandford R, Zabel B, Superti-Furga A, Kohlhase J. Mutations in the Cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus, anogenital and renal malformations. Nature Genetics 40:287-289.
Note: Sheila Unger and Detlef Böhm are equal contributors.
Holak H, Kohlhase J, Holak S, Holak N (2008) New recognized ophthalmic morphologic anomalies in CHARGE syndrome caused by the R2319C Mutation in the CHD7 gene. Ophthalm Genet 29:79-84
2007
Vuorela P, Ala-Mello S, Saloranta C, Penttinen M, Pöyhönen M, Huoponen K, Borozdin W, Bausch B, Botzenhart EM, Wilhelm C, Kääriäinen H, Kohlhase J (2007) Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions. Genetics in Medicine, in press (2007)
Wieczorek D, Shaw-Smith C, Kohlhase J, Schmitt W, Buiting K, Coffey A, Howard E, Hehr U, Gillessen-Kaesbach G. 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?
Am J Med Genet A. 2007 May 11; [Epub ahead of print]
Borozdin W, Graham JM Jr., Boehm D, Bamshad MJ, Spranger S, Burke L, Leipoldt M, Kohlhase J. Multigene Deletions on Chromosome 20q13.13-q13.2 Including SALL4 Result in an Expanded Phenotype of Okihiro Syndrome Plus Developmental Delay. Hum Mutat 2007, in press.
Böhm J, Kaiser FJ, Borozdin W, Depping R, Kohlhase J. Synergistic cooperation of Sall4 and Cyclin D1 in transcriptional repression. Biochem Biophys Res Commun. 2007 Mar 19; [Epub ahead of print]
Baba Y, Baker MC, Le Ber I, Brice A, Maeck L, Kohlhase J, Yasuda M, Stoppe G, Bugiani O, Sperfeld AD, Tsuboi Y, Uitti RJ, Farrer MJ, Ghetti B, Hutton ML, Wszolek ZK. Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutation. J Neural Transm. 2007 Feb 23; [Epub ahead of print]
Zimmermann N, Acosta AM, Kohlhase J, Bartsch O. Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome.
Eur J Hum Genet. 2007 Feb 14; [Epub ahead of print]
Botzenhart EM, Bartalini G, Blair E, Brady AF, Elmslie F, Chong KL, Christy K, Torres-Martinez W, Danesino C, Deardorff MA, Fryns JP, Marlin S, Garcia-Minaur S, Hellenbroich Y, Hay BN, Penttinen M, Shashi V, Terhal P, Van Maldergem L, Whiteford ML, Zackai E, Kohlhase J. Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. Hum Mutat. 2007 Jan 12;28(2):204-205
Kohlhase J. 2007. Townes-Brocks syndrome. in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2007.
Kohlhase J. 2004, updated 2007. SALL4-related disorders in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle. 1997-2007.
2006
Broekaert SM, Knauss-Scherwitz E, Biedermann T, Metzler G, Has C, Kohlhase J, Rocken M, Schaller M. Epidermolysis Bullosa Pruriginosa due to a Glycine Substitution Mutation in the COL7A1-gene. Acta Derm Venereol. 2006;86(6):556-7.
Borozdin W, Bravo Ferrer Acosta AM, Bamshad MJ, Botzenhart EM, Froster UG, Lemke J, Schinzel A, Spranger S, McGaughran J, Wand D, Chrzanowska KH, Kohlhase J. Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations. Hum Mutat. 2006 Aug 17;27(9):975-976
Böhm J, Sustmann C, Wilhelm C, Kohlhase J. SALL4 is directly activated by TCF/LEF in the canonical Wnt signaling pathway. Biochem Biophys Res Commun. 2006 Jul 31; [Epub ahead of print]
Böhm J, Munk-Schulenburg S, Felscher S, Kohlhase J. SALL1 mutations in sporadic Townes-Brocks syndrome are of predominantly paternal origin without obvious paternal age effect. Am J Med Genet A. 2006 Aug 4; [Epub ahead of print]
Borozdin W, Bravo-Ferrer Acosta AM, Seemanova E, Leipoldt M, Bamshad MJ, Unger S, Kohlhase J. Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes. Am J Med Genet A. 2006 Aug 4; [Epub ahead of print]
Has C, Wessagowit V, Pascucci M, Baer C, Didona B, Wilhelm C, Pedicelli C, Locatelli A, Kohlhase J, Ashton GH, Tadini G, Zambruno G, Bruckner-Tuderman L, McGrath JA, Castiglia D. Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene. J Invest Dermatol. 2006 Aug;126(8):1776-83.
Has C, Chang YR, Volz A, Hoeping D, Kohlhase J, Bruckner-Tuderman L. Novel keratin 14 mutations in patients with severe recessive epidermolysis bullosa simplex. J Invest Dermatol. 2006 Aug;126(8):1912-4. Epub 2006 Apr 13.
Kern JS, Kohlhase J, Bruckner-Tuderman L, Has C. Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa. J Invest Dermatol. 2006 May;126(5):1006-12.
Walter KN, Greenhalgh KL, Newbury-Ecob RA, Kohlhase J. Mosaic trisomy 8 and Townes-Brocks syndrome due to a novel SALL1 mutation in the same patient. Am J Med Genet A. 2006 Mar 15;140(6):649-51.
Netzer C, Bohlander SK, Hinzke M, Chen Y, Kohlhase J. Defining the heterochromatin localization and repression domains of SALL1. Biochim Biophys Acta. 2006 Mar;1762(3):386-91.
Borozdin W, Steinmann K, Albrecht B, Bottani A, Devriendt K, Leipoldt M, Kohlhase J. Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome. Hum Mutat. 2006 Feb;27(2):211-2.
Terhal P, Rosler B, Kohlhase J. A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation. Am J Med Genet A. 2006 Feb 1;140(3):222-6.
Miertus J, Borozdin W, Frecer V, Tonini G, Bertok S, Amoroso A, Miertus S, Kohlhase J. 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. Hum Genet. 2006 Mar;119(1-2):154-61.
2005
Tasse C, Bohringer S, Fischer S, Ludecke HJ, Albrecht B, Horn D, Janecke A, Kling R, Konig R, Lorenz B, Majewski F, Maeyens E, Meinecke P, Mitulla B, Mohr C, Preischl M, Umstadt H, Kohlhase J, Gillessen-Kaesbach G, Wieczorek D. Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification. Eur J Med Genet. 2005 Oct-Dec;48(4):397-411.
McCann E, Fryer AE, Newman W, Appleton RE, Kohlhase J. A family with Duane anomaly and distal limb abnormalities: a further family with the arthrogryposis-ophthalmoplegia syndrome. Am J Med Genet A. 2005 Dec 1;139(2):123-6.
Botzenhart EM, Green A, Ilyina H, Konig R, Lowry RB, Lo IF, Shohat M, Burke L, McGaughran J, Chafai R, Pierquin G, Michaelis RC, Whiteford ML, Simola KO, Rosler B, Kohlhase J. SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype. Hum Mutat. 2005;26(3):282.
Kohlhase J, Chitayat D, Kotzot D, Ceylaner S, Froster UG, Fuchs S, Montgomery T, Rosler B. SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders. Hum Mutat. 2005;26(3):176-83.
Baba Y, Tsuboi Y, Baker MC, Uitti RJ, Hutton ML, Dickson DW, Farrer M, Putzke JD, Woodruff BK, Ghetti B, Murrell JR, Boeve BF, Petersen RC, Verpillat P, Brice A, Delisle MB, Rascol O, Arima K, Dysken MW, Yasuda M, Kobayashi T, Sunohara N, Komure O, Kuno S, Sperfeld AD, Stoppe G, Kohlhase J, Pickering-Brown S, Neary D, Bugiani O, Wszolek ZK. The effect of tau genotype on clinical features in FTDP-17. Parkinsonism Relat Disord. 2005 Jun;11(4):205-8.
Thiel CT, Rosanowski F, Kohlhase J, Reis A, Rauch A. Exclusion of TCOF1 mutations in a case of bilateral Goldenhar syndrome and one familial case of microtia with meatal atresia. Clin Dysmorphol. 2005 Apr;14(2):67-71.
2004
Wabbels BK, Kohlhase J, Lorenz B. [Clinical and molecular genetic findings in isolated sporadic Duane syndrome] Klin Monatsbl Augenheilkd. 2004 Oct;221(10):849-53. German.
Wabbels BK, Lorenz B, Kohlhase J. No evidence of SALL4-mutations in isolated sporadic duane retraction "syndrome" (DURS). Am J Med Genet A. 2004 Dec 1;131(2):216-8.
Borozdin W, Boehm D, Leipoldt M, Wilhelm C, Reardon W, Clayton-Smith J, Becker K, Muhlendyck H, Winter R, Giray O, Silan F, Kohlhase J. SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism. J Med Genet. 2004 Sep;41(9):e113.
Kohlhase J, Holmes LB. Mutations in SALL4 in malformed father and daughter postulated previously due to reflect mutagenesis by thalidomide. Birth Defects Res A Clin Mol Teratol. 2004 Aug;70(8):550-1.
Borozdin W, Wright MJ, Hennekam RC, Hannibal MC, Crow YJ, Neumann TE, Kohlhase J. Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum. J Med Genet. 2004 Aug;41(8):e102.
Albrecht B, Liebers M, Kohlhase J. Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation. Am J Med Genet A. 2004 Feb 15;125(1):102-4.
2003
Kohlhase J, Liebers M, Backe J, Baumann-Muller A, Bembea M, Destree A, Gattas M, Grussner S, Muller T, Mortier G, Skrypnyk C, Yano S, Wirbelauer J, Michaelis RC. High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case. J Med Genet. 2003 Nov;40(11):e127. Erratum in: J Med Genet. 2004 Jan;41(1):74.
Kiefer SM, Ohlemiller KK, Yang J, McDill BW, Kohlhase J, Rauchman M. Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects. Hum Mol Genet. 2003 Sep 1;12(17):2221-7. Epub 2003 Jul 15.
Kohlhase J, Schubert L, Liebers M, Rauch A, Becker K, Mohammed SN, Newbury-Ecob R, Reardon W. 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. J Med Genet. 2003 Jul;40(7):473-8.
2002
Kohlhase J, Heinrich M, Liebers M, Frohlich Archangelo L, Reardon W, Kispert A. Cloning and expression analysis of SALL4, the murine homologue of the gene mutated in Okihiro syndrome. Cytogenet Genome Res. 2002;98(4):274-7.
Trappe R, Bohm D, Kohlhase J, Weise A, Liehr T, Essers G, Meins M, Zoll B, Bartels I, Burfeind P. A novel family-specific translocation t(2;20)(p24.1;q13.1) associated with recurrent abortions: molecular characterization and segregation analysis in male meiosis. Cytogenet Genome Res. 2002;98(1):1-8.
Kohlhase J, Heinrich M, Schubert L, Liebers M, Kispert A, Laccone F, Turnpenny P, Winter RM, Reardon W. Okihiro syndrome is caused by SALL4 mutations. Hum Mol Genet. 2002 Nov 1;11(23):2979-87.
Devriendt K, Fryns JP, Lemmens F, Kohlhase J, Liebers M. Somatic mosaicism and variable expression of Townes-Brocks syndrome. Am J Med Genet. 2002 Aug 1;111(2):230-1.
Netzer C, Bohlander SK, Rieger L, Muller S, Kohlhase J. Interaction of the developmental regulator SALL1 with UBE2I and SUMO-1. Biochem Biophys Res Commun. 2002 Aug 30;296(4):870-6.
2001
Netzer C, Rieger L, Brero A, Zhang CD, Hinzke M, Kohlhase J, Bohlander SK. SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin. Hum Mol Genet. 2001 Dec 15;10(26):3017-24.
Surka WS, Kohlhase J, Neunert CE, Schneider DS, Proud VK. Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects. Am J Med Genet. 2001 Aug 15;102(3):250-7.
Buck A, Kispert A, Kohlhase J. Embryonic expression of the murine homologue of SALL1, the gene mutated in Townes--Brocks syndrome. Mech Dev. 2001 Jun;104(1-2):143-6.
2000
Buck A, Archangelo L, Dixkens C, Kohlhase J. Molecular cloning, chromosomal localization, and expression of the murine SALL1 ortholog Sall1. Cytogenet Cell Genet. 2000;89(3-4):150-3.
Engels S, Kohlhase J, McGaughran J. A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype.J Med Genet. 2000 Jun;37(6):458-60.
Knoblauch H, Thiel G, Tinschert S, Korner H, Tennstedt C, Chaoui R, Kohlhase J, Dixkens C, Blanck C. Clinical and molecular cytogenetic studies of a large de novo interstitial deletion 16q11.2-16q21 including the putative transcription factor gene SALL1. J Med Genet. 2000 May;37(5):389-92.
Blanck C, Kohlhase J, Engels S, Burfeind P, Engel W, Bottani A, Patel MS, Kroes HY, Cobben JM. Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome. J Med Genet. 2000 Apr;37(4):303-7.
Kohlhase J, Janssen B, Weidenauer K, Harms K, Bartels I. First confirmed case with paternal uniparental disomy of chromosome 16. Am J Med Genet. 2000 Mar 20;91(3):190-1.
Salerno A, Kohlhase J, Kaplan BS. Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene. Pediatr Nephrol. 2000 Jan;14(1):25-8.
Kohlhase J. SALL1 mutations in Townes-Brocks syndrome and related disorders. Hum Mutat. 2000 Dec;16(6):460-6.
1999
Kohlhase J, Hausmann S, Stojmenovic G, Dixkens C, Bink K, Schulz-Schaeffer W, Altmann M, Engel W. SALL3, a new member of the human spalt-like gene family, maps to 18q23. Genomics. 1999 Dec 1;62(2):216-22.
Kohlhase J, Altmann M, Archangelo L, Dixkens C, Engel W. Genomic cloning, chromosomal mapping, and expression analysis of msal-2. Mamm Genome. 2000 Jan;11(1):64-8.
Kohlhase J, Kohler A, Jackle H, Engel W, Stick R. Molecular cloning of a SALL1-related pseudogene and mapping to chromosome Xp11.2. Cytogenet Cell Genet. 1999;84(1-2):31-4.
Kohlhase J, Taschner PE, Burfeind P, Pasche B, Newman B, Blanck C, Breuning MH, ten Kate LP, Maaswinkel-Mooy P, Mitulla B, Seidel J, Kirkpatrick SJ, Pauli RM, Wargowski DS, Devriendt K, Proesmans W, Gabrielli O, Coppa GV, Wesby-van Swaay E, Trembath RC, Schinzel AA, Reardon W, Seemanova E, Engel W. Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. Am J Hum Genet. 1999 Feb;64(2):435-45.
1998
Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W. Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. Nat Genet. 1998 Jan;18(1):81-3.
1996
Kohlhase J, Schuh R, Dowe G, Kuhnlein RP, Jackle H, Schroeder B, Schulz-Schaeffer W, Kretzschmar HA, Kohler A, Muller U, Raab-Vetter M, Burkhardt E, Engel W, Stick R. Isolation, characterization, and organ-specific expression of two novel human zinc finger genes related to the Drosophila gene spalt. Genomics. 1996 Dec 15;38(3):291-8.
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| Praxis für Humangenetik Freiburg - Prof. Kohlhase
jkohlhase@humangenetik-freiburg.de |  |
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