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Karl-Heinz Grzeschik

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Dorothea Bornholdt; Bakar Bouadjar; Benoit Catteau; Helen Cox; Deepthi De Silva; Judith Fischer; T Prescott Atkinson; Chalukya N Gunasekera; Smaïl Hadj-Rabia; Rudolf Happle; Muriel Holder-Espinasse; Elke Kaminski; Arne König; André Mégarbané; Hala Mégarbané; Ulrike Neidel; Frank Oeffner; Vinzenz Oji; Amy Theos; Heiko Traupe; Anders Vahlquist; Bregje W van Bon; Marie Virtanen; Karl-Heinz Grzeschik
Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2.
Tanumay Raychaudhury; Vivi M Srivastava; Meera Thomas; Kausik Mandal; Dorothea Bornholdt; Renu George; Karl-Heinz Grzeschik; Angelika Koehler
A novel X-chromosomal microdeletion encompassing congenital hemidysplasia with ichthyosiform erythroderma and limb defects.
Memnune Yuksel-Apak; Selcuk Apak; Nina Bögershausen; Karl-Heinz Grzeschik; Ayan Gülgören; Birsen Karaman; Hulya Kayserili; Yun Li; Esther Milz; Gudrun Nürnberg; Peter Nürnberg; Barbara Pawlik; Oya Uyguner; Bernd Wollnik
A large duplication involving the IHH locus mimics acrocallosal syndrome.

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All Publications

2013: Dorothea Bornholdt; Bakar Bouadjar; Benoit Catteau; Helen Cox; Deepthi De Silva; Judith Fischer; T Prescott Atkinson; Chalukya N Gunasekera; Smaïl Hadj-Rabia; Rudolf Happle; Muriel Holder-Espinasse; Elke Kaminski; Arne König; André Mégarbané; Hala Mégarbané; Ulrike Neidel; Frank Oeffner; Vinzenz Oji; Amy Theos; Heiko Traupe; Anders Vahlquist; Bregje W van Bon; Marie Virtanen; Karl-Heinz Grzeschik
Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2.
Human mutation 2013;34(4):587-94.
2013: Tanumay Raychaudhury; Vivi M Srivastava; Meera Thomas; Kausik Mandal; Dorothea Bornholdt; Renu George; Karl-Heinz Grzeschik; Angelika Koehler
A novel X-chromosomal microdeletion encompassing congenital hemidysplasia with ichthyosiform erythroderma and limb defects.
Pediatric dermatology 2013;30(2):250-2.
2012: Memnune Yuksel-Apak; Selcuk Apak; Nina Bögershausen; Karl-Heinz Grzeschik; Ayan Gülgören; Birsen Karaman; Hulya Kayserili; Yun Li; Esther Milz; Gudrun Nürnberg; Peter Nürnberg; Barbara Pawlik; Oya Uyguner; Bernd Wollnik
A large duplication involving the IHH locus mimics acrocallosal syndrome.
European journal of human genetics : EJHG 2012;20(6):639-44.
2012: Annalisa Patrizi; Michela Tabanelli; Karl-Heinz Grzeschik; Cosimo Misciali; Iria Neri; Rudolf Happle
Multiple basal cell carcinomas in a 38-year-old woman with Goltz syndrome.
Dermatology (Basel, Switzerland) 2012;224(2):97-100.
2012: Diane Maalouf; Hala Mégarbané; Joanna Nasr; Catherine Badens; Eliane Chouery; Karl-Heinz Grzeschik; Caroline Lacoste; André Mégarbané
A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia.
Archives of dermatology 2012;148(1):85-8.
2011: Frank Oeffner; Francisco Martinez; Julie Schaffer; Aïcha Salhi; Sandra Monfort; Silvestre Oltra; Ulrike Neidel; Dorothea Bornholdt; Bregje van Bon; Arne König; Rudolf Happle; Karl-Heinz Grzeschik
Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome.
Experimental dermatology 2011;20(5):447-9.
2010: Emmelien Aten; Lisa C Brasz; Dorothea Bornholdt; Ingeborg B Hooijkaas; Mary E Porteous; Virginia P Sybert; Maarten H Vermeer; Rolf H A M Vossen; Michiel J R van der Wielen; Egbert Bakker; Martijn H Breuning; Karl-Heinz Grzeschik; Jan C Oosterwijk; Johan T den Dunnen
Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2.
Human mutation 2010;31(10):1125-33.
2010: Retno Danarti; Karl-Heinz Grzeschik; Sunardi Radiono; Arne König; Rudolf Happle
Left-sided CHILD syndrome caused by a nonsense mutation in exon 7 of the NSDHL gene.
European journal of dermatology : EJD 2010;20(5):634-5.
2010: Cyrus Khandanpour; Christian Thiede; Peter J M Valk; Ehssan Sharif-Askari; Holger Nückel; Dietmar Lohmann; Bernhard Horsthemke; Winfried Siffert; Andreas Neubauer; Karl-Heinz Grzeschik; Clara D Bloomfield; Guido Marcucci; Kati Maharry; Marilyn L Slovak; Bert A van der Reijden; Joop H Jansen; Hans K Schackert; Khashayar Afshar; Susanne Schnittger; Justine K Peeters; Frank Kroschinsky; Gerhard Ehninger; Bob Lowenberg; Ulrich Dührsen; Tarik Möröy
A variant allele of Growth Factor Independence 1 (GFI1) is associated with acute myeloid leukemia.
Blood 2010;115(12):2462-72.
2010: Cristina Dias; Jorge Basto; Odilia Pinho; Carla Barbêdo; Marcia Mártins; Dorothea Bornholdt; Ana Fortuna; Karl-Heinz Grzeschik; Margarida Lima
A nonsense porcn mutation in severe focal dermal hypoplasia with natal teeth.
Fetal and pediatric pathology 2010;29(5):305-13.
2010: Amir A Abbasi; Zissis Paparidis; Sajid Malik; Fiona Bangs; Ansgar Schmidt; Sabine Koch; Javier Lopez-Rios; Karl-Heinz Grzeschik
Human intronic enhancers control distinct sub-domains of Gli3 expression during mouse CNS and limb development.
BMC developmental biology 2010;10():44.
2010: Arne König; Jan Skrzypek; Harald Löffler; Frank Oeffner; Karl-Heinz Grzeschik; Rudolf Happle
Donor dominance cures CHILD nevus.
Dermatology (Basel, Switzerland) 2010;220(4):340-5.
2009: Andrew Ming; Rudolf Happle; Karl-Heinz Grzeschik; Gayle Fischer
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome due to mutation of the gene MBTPS2 in a large Australian kindred.
Pediatric dermatology 2009;26(4):427-31.
2009: Frank Oeffner; Gayle Fischer; Rudolf Happle; Arne König; Regina C Betz; Dorothea Bornholdt; Ulrike Neidel; María del Carmen Boente; Silke Redler; Javier Romero-Gomez; Aïcha Salhi; Angel Vera-Casaño; Christian Weirich; Karl-Heinz Grzeschik
IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response.
American journal of human genetics 2009;84(4):459-67.
2009: Sybille Krauss; Joyce So; Melanie Hambrock; Andrea Köhler; Melanie Kunath; Constance Scharff; Martina Wessling; Karl-Heinz Grzeschik; Rainer Schneider; Susann Schweiger
Point mutations in GLI3 lead to misregulation of its subcellular localization.
PloS one 2009;4(10):e7471.
2009: Amir Ali Abbasi; Debbie K Goode; Saneela Amir; Karl-Heinz Grzeschik
Evolution and functional diversification of the GLI family of transcription factors in vertebrates.
Evolutionary bioinformatics online 2009;5():5-13.
2008: Gunnar Houge; Frank Oeffner; Karl-Heinz Grzeschik
An Xp11.23 deletion containing PORCN may also cause angioma serpiginosum, a cosmetic skin disease associated with extreme skewing of X-inactivation.
European journal of human genetics : EJHG 2008;16(9):1027-8.
2008: Sajid Malik; Karl-Heinz Grzeschik
Congenital, low penetrance lymphedema of lower limbs maps to chromosome 6q16.2-q22.1 in an inbred Pakistani family.
Human genetics 2008;123(2):197-205.
2008: Sajid Malik; Karl-Heinz Grzeschik
Synpolydactyly: clinical and molecular advances.
Clinical genetics 2008;73(2):113-20.
2008: Frank Oeffner; C Moch; A Neundorf; J Hofmann; M Koch; Karl-Heinz Grzeschik
Novel interaction partners of Bardet-Biedl syndrome proteins.
Cell motility and the cytoskeleton 2008;65(2):143-55.
2008: Cinzia Di Pietro; Marco Ragusa; Davide Barbagallo; Laura R Duro; Maria R Guglielmino; Alessandra Majorana; Veronica Giunta; Antonella Rapisarda; Elisa Tricarichi; Marco Miceli; Rosario Angelica; Agata Grillo; Barbara Banelli; Isabella Defferari; Stefano Forte; Alessandro Laganà; Camillo Bosco; Rosalba Giugno; Alfredo Pulvirenti; Alfredo Ferro; Karl-Heinz Grzeschik; Andrea Di Cataldo; Gian P Tonini; Massimo Romani; Michele Purrello
Involvement of GTA protein NC2beta in neuroblastoma pathogenesis suggests that it physiologically participates in the regulation of cell proliferation.
Molecular cancer 2008;7():52.
2008: Annette Kolb-Mäurer; Karl-Heinz Grzeschik; Dorothea Haas; Eva-Bettina Bröcker; Henning Hamm
Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysis.
Acta dermato-venereologica 2008;88(1):47-51.
2007: Yorck Hellenbroich; Karl-Heinz Grzeschik; Martin Krapp; Tiantom Jarutat; Christa Lehrmann-Petersen; Karin Buiting; Gabriele Gillessen-Kaesbach
Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata.
European journal of medical genetics 2007;50(5):392-8.
2007: Zissis Paparidis; Amir Ali Abbasi; Sajid Malik; Debbie K Goode; Heather Callaway; greg elgar; Esther deGraaff; Javier Lopez-Rios; Rolf Zeller; Karl-Heinz Grzeschik
Ultraconserved non-coding sequence element controls a subset of spatiotemporal GLI3 expression.
Development, growth & differentiation 2007;49(6):543-53.
2007: Philippe Debeer; koenraad devriendt; Luc De Smet; Thomy Deravel; Antonio Gonzalez-Meneses; Karl-Heinz Grzeschik; Jean-Pierre Fryns
The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly.
Journal of children's orthopaedics 2007;1(2):143-50.
2007: Karl-Heinz Grzeschik; Dorothea Bornholdt; Frank Oeffner; Arne König; María del Carmen Boente; Herbert Enders; Barbara Fritz; Michael Hertl; Ute Grasshoff; Katja Höfling; Vinzenz Oji; Mauro Paradisi; Christian Schuchardt; Zsuzsanna Szalai; Gianluca Tadini; Heiko Traupe; Rudolf Happle
Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.
Nature genetics 2007;39(7):833-5.
2007: Cinzia Di Pietro; Marco Ragusa; Laura Duro; Maria Rosa Guglielmino; Davide Barbagallo; Alisia Carnemolla; Alessandro Laganà; Pietro Buffa; Rosario Angelica; Antonella Rinaldi; Maria Stella Calafato; Ionella Milicia; Cinzia Caserta; Rosalba Giugno; Alfredo Pulvirenti; Veronica Giunta; Antonella Rapisarda; Valentina Di Pietro; Agata Grillo; Angelo Messina; Alfredo Ferro; Karl-Heinz Grzeschik; Michele Purrello
Genomics, evolution, and expression of TBPL2, a member of the TBP family.
DNA and cell biology 2007;26(6):369-85.
2007: Sajid Malik; Katta M Girisha; Muhammad Wajid; Akhilesh K Roy; Shubha R Phadke; Sayedul Haque; Wasim Ahmad; Manuela C Koch; Karl-Heinz Grzeschik
Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences.
BMC medical genetics 2007;8():78.
2007: Amir Ali Abbasi; Karl-Heinz Grzeschik
An insight into the phylogenetic history of HOX linked gene families in vertebrates.
BMC evolutionary biology 2007;7():239.
2007: Amir Ali Abbasi; Zissis Paparidis; Sajid Malik; Debbie K Goode; Heather Callaway; greg elgar; Karl-Heinz Grzeschik
Human GLI3 intragenic conserved non-coding sequences are tissue-specific enhancers.
PloS one 2007;2(4):e366.
2006: Sajid Malik; A A Abbasi; Muhammad Ansar; Wasim Ahmad; Manuela C Koch; Karl-Heinz Grzeschik
Genetic heterogeneity of synpolydactyly: a novel locus SPD3 maps to chromosome 14q11.2-q12.
Clinical genetics 2006;69(6):518-24.
2006: Mario Bittar; Rudolf Happle; Karl-Heinz Grzeschik; Leonora Leveleki; Michael Hertl; Dorothea Bornholdt; Arne König
CHILD syndrome in 3 generations: the importance of mild or minimal skin lesions.
Archives of dermatology 2006;142(3):348-51.
2005: Sajid Malik; Jörg Schott; Syed Wajahat Ali; Frank Oeffner; Muhammad Amin-Ud-Din; Wasim Ahmad; Karl-Heinz Grzeschik; Manuela C Koch
Evidence for clinical and genetic heterogeneity of syndactyly type I: the phenotype of second and third toe syndactyly maps to chromosome 3p21.31.
European journal of human genetics : EJHG 2005;13(12):1268-74.
2005: Sajid Malik; Ferda E Percin; Wasim Ahmad; Sitki Percin; Nurten A Akarsu; Manuela C Koch; Karl-Heinz Grzeschik
Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3.
American journal of medical genetics. Part A 2005;134(4):404-8.
2005: Dorothea Bornholdt; Arne König; Rudolf Happle; Leonora Leveleki; Mario Bittar; Retno Danarti; A Vahlquist; W Tilgen; U Reinhold; A Poiares Baptista; E Grosshans; Pierre VABRES; Shiro Niiyama; K Sasaoka; T Tanaka; A L Meiss; P A Treadwell; D Lambert; F Camacho; Karl-Heinz Grzeschik
Mutational spectrum of NSDHL in CHILD syndrome.
Journal of medical genetics 2005;42(2):e17.
2005: Sajid Malik; Wasim Ahmad; Karl-Heinz Grzeschik; Manuela C Koch
A simple method for characterising syndactyly in clinical practice.
Genetic counseling (Geneva, Switzerland) 2005;16(3):229-38.
2005: Chong A Kim; A Konig; Débora R Bertola; Lilian Maria José Albano; G J F Gattás; Dorothea Bornholdt; Leonora Leveleki; Rudolf Happle; Karl-Heinz Grzeschik
CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene.
Dermatology (Basel, Switzerland) 2005;211(2):155-8.
2004: Aicha Salhi; Dorothea Bornholdt; Frank Oeffner; Sajid Malik; Ernest Heid; Rudolf Happle; Karl-Heinz Grzeschik
Multiple familial trichoepithelioma caused by mutations in the cylindromatosis tumor suppressor gene.
Cancer research 2004;64(15):5113-7.
2004: Sajid Malik; Muhammad Arshad; Muhammad Amin-Ud-Din; Frank Oeffner; Astrid Dempfle; Sayedul Haque; Manuela C Koch; Wasim Ahmad; Karl-Heinz Grzeschik
A novel type of autosomal recessive syndactyly: clinical and molecular studies in a family of Pakistani origin.
American journal of medical genetics. Part A 2004;126A(1):61-7.
2004: M Kalff-Suske; Zissis Paparidis; Dorothea Bornholdt; T Cole; M Kalff-Suske; Karl-Heinz Grzeschik
Gene symbol: GLI3. Disease: Pallister-Hall syndrome.
Human genetics 2004;114(4):403.
2003: Katarina Lehmann; Petra Seemann; Sigmar Stricker; Marei Sammar; Birgit Meyer; Kathrin Süring; Frank Majewski; Sigrid Tinschert; Karl-Heinz Grzeschik; Dietmar Müller; Petra Knaus; Peter Nürnberg; Stefan Mundlos
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.
Proceedings of the National Academy of Sciences of the United States of America 2003;100(21):12277-82.
2003: Philippe Debeer; Hilde Peeters; S Driess; L De Smet; K Freese; G Matthijs; Dorothea Bornholdt; koenraad devriendt; Karl-Heinz Grzeschik; Jean-Pierre Fryns; M Kalff-Suske
Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations.
American journal of medical genetics. Part A 2003;120A(1):49-58.
2003: K Freese; S Driess; Dorothea Bornholdt; E J Shoenle; H Seidel; Sigrid Tinschert; Karl-Heinz Grzeschik; M Kalff-Suske
Gene symbol: GLI3. Disease: Pallister-Hall syndrome.
Human genetics 2003;112(1):103.
2003: S Driess; K Freese; Dorothea Bornholdt; A Kobelt; W Kress; Geert R Mortier; Uppala Radhakrishna; Stylianos E Antonarakis; A Rauch; Mohnish Suri; Joke B G M Verheij; H Woerle; Karl-Heinz Grzeschik; M Kalff-Suske
Gene symbol: GLI3. Disease: Greig cephalopolysyndactyly syndrome.
Human genetics 2003;112(1):103.
2002: Hans-Christoph Duba; Andreas Doll; Michael Neyer; Martin Erdel; Christian Mann; Ignaz Hammerer; Gerd Utermann; Karl-Heinz Grzeschik
The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndrome.
European journal of human genetics : EJHG 2002;10(6):351-61.
2002: Wenli Gu; Andrea Wevers; Hannsjörg Schröder; Karl-Heinz Grzeschik; Christian Derst; Eylert Brodtkorb; Rob A I de Vos; Ortrud K Steinlein
The LGI1 gene involved in lateral temporal lobe epilepsy belongs to a new subfamily of leucine-rich repeat proteins.
FEBS letters 2002;519(1-3):71-6.
2002: Arne König; Rudolf Happle; Regina Fink-Puches; Hans Peter Soyer; Dorothea Bornholdt; Hartmut Engel; Karl-Heinz Grzeschik
A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement.
Journal of the American Academy of Dermatology 2002;46(4):594-6.
2002: Colette Kananura; Thomas Sander; Sindhu Rajan; Regina Preisig-Müller; Karl-Heinz Grzeschik; Jürgen Daut; Christian Derst; Ortrud K Steinlein
Tandem pore domain K(+)-channel TASK-3 (KCNK9) and idiopathic absence epilepsies.
American journal of medical genetics 2002;114(2):227-9.
2002: Rainer Koenig; Alexia Bach; Ulrike Woelki; Karl-Heinz Grzeschik; Sigrun Fuchs
Spectrum of the acrocallosal syndrome.
American journal of medical genetics 2002;108(1):7-11.
2002: Karl-Heinz Grzeschik
Human limb malformations; an approach to the molecular basis of development.
The International journal of developmental biology 2002;46(7):983-91.
2001: Christine Karschin; Erhard Wischmeyer; Regina Preisig-Müller; Sindhu Rajan; Christian Derst; Karl-Heinz Grzeschik; Jürgen Daut; Andreas Karschin
Expression pattern in brain of TASK-1, TASK-3, and a tandem pore domain K(+) channel subunit, TASK-5, associated with the central auditory nervous system.
Molecular and cellular neurosciences 2001;18(6):632-48.
2001: Michele Purrello; Cinzia Di Pietro; Antonella Rapisarda; V Amico; V Giunta; H Engel; S Stevens; Y Hsieh ; M Teichman; Z Wang; Giovanni Sichel; R Roeder; Karl-Heinz Grzeschik
Genes for human general transcription initiation factors TFIIIB, TFIIIB-associated proteins, TFIIIC2 and PTF/SNAPC: functional and positional candidates for tumour predisposition or inherited genetic diseases?
Oncogene 2001;20(35):4877-83.
2001: EV Nadezhdin; Yuri Lebedev; DV Glazkova; Dorothea Bornholdt; IP Arman; Karl-Heinz Grzeschik; Gerhard Hunsmann; Eugene D Sverdlov
Identification of paralogous HERV-K LTRs on human chromosomes 3, 4, 7 and 11 in regions containing clusters of olfactory receptor genes.
Molecular genetics and genomics : MGG 2001;265(5):820-5.
2001: Frank Oeffner; Tina Korn; H Roth; Andreas Ziegler; Anke Hinney; Hanspeter Goldschmidt; Wolfgang Siegfried; Johannes Hebebrand; Karl-Heinz Grzeschik
Systematic screening for mutations in the human necdin gene (NDN): identification of two naturally occurring polymorphisms and association analysis in body weight regulation.
International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity 2001;25(6):767-9.
2001: Sindhu Rajan; Erhard Wischmeyer; Christine Karschin; Regina Preisig-Müller; Karl-Heinz Grzeschik; Jürgen Daut; Andreas Karschin; Christian Derst
THIK-1 and THIK-2, a novel subfamily of tandem pore domain K+ channels.
The Journal of biological chemistry 2001;276(10):7302-11.
2001: Christian Derst; Christine Karschin; Erhard Wischmeyer; Jochen R Hirsch; Regina Preisig-Müller; Sindhu Rajan; Hartmut Engel; Karl-Heinz Grzeschik; Jürgen Daut; Andreas Karschin
Genetic and functional linkage of Kir5.1 and Kir2.1 channel subunits.
FEBS letters 2001;491(3):305-11.
2001: Andreas Doll; Karl-Heinz Grzeschik
Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome.
Cytogenetics and cell genetics 2001;95(1-2):20-7.
2000: W Lisch; A Büttner; F Oeffner; I Böddeker; H Engel; C Lisch; A Ziegler; Karl-Heinz Grzeschik
Lisch corneal dystrophy is genetically distinct from Meesmann corneal dystrophy and maps to xp22.3.
American journal of ophthalmology 2000;130(4):461-8.
2000: C Töpert; Frank Döring; Christian Derst; Jürgen Daut; Karl-Heinz Grzeschik; Andreas Karschin
Cloning, structure and assignment to chromosome 19q13 of the human Kir2.4 inwardly rectifying potassium channel gene (KCNJ14).
Mammalian genome : official journal of the International Mammalian Genome Society 2000;11(3):247-9.
2000: Arne König; Rudolf Happle; Dorothea Bornholdt; Hartmut Engel; Karl-Heinz Grzeschik
Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.
American journal of medical genetics 2000;90(4):339-46.
2000: D Sobetzko; G Eich; M Kalff-Suske; Karl-Heinz Grzeschik; andrea superti-furga
Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual.
American journal of medical genetics 2000;90(3):239-42.
2000: Frank Oeffner; Dorothea Bornholdt; Andreas Ziegler; Anke Hinney; Tilman Görg; G Gerber; Hanspeter Goldschmidt; Wolfgang Siegfried; A Wright; Johannes Hebebrand; Karl-Heinz Grzeschik
Significant association between a silent polymorphism in the neuromedin B gene and body weight in German children and adolescents.
Acta diabetologica 2000;37(2):93-101.
2000: Christian Derst; Hartmut Engel; Karl-Heinz Grzeschik; Jürgen Daut
Genomic structure and chromosome mapping of human and mouse RAMP genes.
Cytogenetics and cell genetics 2000;90(1-2):115-8.
2000: Cinzia Di Pietro; Antonella Rapisarda; V Amico; C Bonaiuto; A Viola; Marina Scalia; Salvatore Motta; A Amato; H Engel; Angelo Messina; Giovanni Sichel; Karl-Heinz Grzeschik; Michele Purrello
Genomic localization of the human genes TAF1A, TAF1B and TAF1C, encoding TAF(I)48, TAF(I)63 and TAF(I)110 subunits of class I general transcription initiation factor SL1.
Cytogenetics and cell genetics 2000;89(1-2):133-6.
1999: Uppala Radhakrishna; Dorothea Bornholdt; Hamish Scott; Uday C Patel; Colette Rossier; Hartmut Engel; Armand Bottani; D Chandal; Jean-Louis Blouin; Jitendra V Solanki; Karl-Heinz Grzeschik; Stylianos E Antonarakis
The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.
American journal of human genetics 1999;65(3):645-55.
1999: M Kalff-Suske; A Wild; J Topp; M Wessling; E M Jacobsen; Dorothea Bornholdt; Hartmut Engel; H Heuer; Cora M Aalfs; Margreet G E M Ausems; R Barone; A Herzog; Peter Heutink; T Homfray; Gabriele Gillessen-Kaesbach; Rainer König; Jürgen Kunze; Peter Meinecke; D Müller; R Rizzo; S Strenge; andrea superti-furga; Karl-Heinz Grzeschik
Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.
Human molecular genetics 1999;8(9):1769-77.
1999: Cinzia Di Pietro; Antonella Rapisarda; C Bonaiuto; Maria Natalia Lizzio; H Engel; V Amico; Marina Scalia; A Amato; Karl-Heinz Grzeschik; Giovanni Sichel; Michele Purrello
Genomics of the human genes encoding four TAFII subunits of TFIID, the three subunits of TFIIA, as well as CDK8 and SURB7.
Somatic cell and molecular genetics 1999;25(3):185-9.
1999: Christine Zühlke; R Kiehl; A Johannsmeyer; Karl-Heinz Grzeschik; Eberhard Schwinger
Isolation and characterization of novel CAG repeat containing genes expressed in human brain.
DNA sequence : the journal of DNA sequencing and mapping 1999;10(1):1-6.
1998: Christian Derst; Frank Döring; Regina Preisig-Müller; Jürgen Daut; Andreas Karschin; Nikola Jeck; Stefanie Weber; Hartmut Engel; Karl-Heinz Grzeschik
Partial gene structure and assignment to chromosome 2q37 of the human inwardly rectifying K+ channel (Kir7.1) gene (KCNJ13).
Genomics 1998;54(3):560-3.
1998: H Roth; Tina Korn; K Rosenkranz; Anke Hinney; Andreas Ziegler; Juergen Kunz; Wolfgang Siegfried; H Mayer; Johannes Hebebrand; Karl-Heinz Grzeschik
Transmission disequilibrium and sequence variants at the leptin receptor gene in extremely obese German children and adolescents.
Human genetics 1998;103(5):540-6.
1998: L Károlyi; Manuela C Koch; Karl-Heinz Grzeschik; Hannsjörg W Seyberth
The molecular genetic approach to "Bartter's syndrome".
Journal of molecular medicine (Berlin, Germany) 1998;76(5):317-25.
1998: Michele Purrello; Cinzia Di Pietro; A Viola; Antonella Rapisarda; S Stevens; M Guermah; Y Tao; C Bonaiuto; A Arcidiacono; Angelo Messina; Giovanni Sichel; Karl-Heinz Grzeschik; R Roeder
Genomics and transcription analysis of human TFIID.
Oncogene 1998;16(12):1633-8.
1997: Uppala Radhakrishna; A Wild; Karl-Heinz Grzeschik; Stylianos Antonarakis
Mutation in GLI3 in postaxial polydactyly type A.
Nature genetics 1997;17(3):269-71.
1997: A Wild; M Kalff-Suske; A Vortkamp; Dorothea Bornholdt; Rainer König; Karl-Heinz Grzeschik
Point mutations in human GLI3 cause Greig syndrome.
Human molecular genetics 1997;6(11):1979-84.
1997: Anke Hinney; KU Lentes; K Rosenkranz; Nikolaus Barth; H Roth; Andreas Ziegler; Klaus Hennighausen; H Coners; Harald Wurmser; K Jacob; G Römer; U Winnikes; H Mayer; Wolfgang Herzog; Gerd Lehmkuhl; Fritz Poustka; Martin H Schmidt; Werner F Blum; Karl-Martin Pirke; Helmut Schäfer; Karl-Heinz Grzeschik; Helmut Remschmidt; Johannes Hebebrand
Beta 3-adrenergic-receptor allele distributions in children, adolescents and young adults with obesity, underweight or anorexia nervosa.
International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity 1997;21(3):224-30.
1997: H Roth; Anke Hinney; Andreas Ziegler; Nikolaus Barth; G Gerber; K Stein; Torsten Brömel; H Mayer; Wolfgang Siegfried; Helmut Schäfer; Helmut Remschmidt; Karl-Heinz Grzeschik; Johannes Hebebrand
Further support for linkage of extreme obesity to the obese gene in a study group of obese children and adolescents.
Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association 1997;105(6):341-4.
1997: Anke Hinney; Nikolaus Barth; Andreas Ziegler; S von Prittwitz; A Hamann; Klaus Hennighausen; Karl-Martin Pirke; A Heils; K Rosenkranz; H Roth; H Coners; H Mayer; Wolfgang Herzog; A Siegfried; Gerd Lehmkuhl; Fritz Poustka; Martin H Schmidt; Helmut Schäfer; Karl-Heinz Grzeschik; Klaus-Peter Lesch; KU Lentes; Helmut Remschmidt; Johannes Hebebrand
Serotonin transporter gene-linked polymorphic region: allele distributions in relationship to body weight and in anorexia nervosa.
Life sciences 1997;61(21):PL 295-303.
1997: KU Lentes; Anke Hinney; Andreas Ziegler; K Rosenkranz; Harald Wurmser; Nikolaus Barth; K Jacob; H Coners; H Mayer; Karl-Heinz Grzeschik; Helmut Schäfer; Helmut Remschmidt; Karl-Martin Pirke; Johannes Hebebrand
Evaluation of a Cys23Ser mutation within the human 5-HT2C receptor gene: no evidence for an association of the mutant allele with obesity or underweight in children, adolescents and young adults.
Life sciences 1997;61(1):PL9-16.
1996: M Kalff-Suske; Juergen Kunz; Karl-Heinz Grzeschik; Guntram Suske
Human Sp3 transcriptional regulator gene (SP3) maps to chromosome 2q31.
Genomics 1996;37(3):410-2.
1996: L Károlyi; A Ziegler; M Pollak; M Fischbach; Karl-Heinz Grzeschik; Manuela C Koch; Hannsjörg W Seyberth
Gitelman's syndrome is genetically distinct from other forms of Bartter's syndrome.
Pediatric nephrology (Berlin, Germany) 1996;10(5):551-4.
1996: S Beck; F Badbanchi; M Otto; N Grzeschik; Juergen Kunz; N Speich; Manfred Gessler; Karl-Heinz Grzeschik
Six new polymorphic microsatellite markers used for the integration of genetic and physical maps of human chromosome 7.
Human genetics 1996;97(6):842-4.
1996: Michele Purrello; Cinzia Di Pietro; Antonella Rapisarda; A Viola; C Corsaro; S Motta; Karl-Heinz Grzeschik; Giovanni Sichel
Genomic localization of the human gene encoding Dr1, a negative modulator of transcription of class II and class III genes.
Cytogenetics and cell genetics 1996;75(2-3):186-9.
1995: A Vortkamp; Manfred Gessler; Karl-Heinz Grzeschik
Identification of optimized target sequences for the GLI3 zinc finger protein.
DNA and cell biology 1995;14(7):629-34.
1995: M Kalff-Suske; Juergen Kunz; Karl-Heinz Grzeschik; Guntram Suske
Human Sp4 transcription factor gene (SP4) maps to chromosome 7p15.
Genomics 1995;26(3):631-3.
1995: Michele Purrello; Cinzia Di Pietro; Antonella Rapisarda; E Mirabile; S Motta; Giovanni Sichel; Karl-Heinz Grzeschik
Genetic characterization of general transcription factors TFIIF and TFIIB of Homo sapiens sapiens.
Cytogenetics and cell genetics 1995;69(1-2):75-80.
1995: A Vortkamp; C Heid; Manfred Gessler; Karl-Heinz Grzeschik
Isolation and characterization of a cosmid contig for the GCPS gene region.
Human genetics 1995;95(1):82-8.
1994: Michele Purrello; Cinzia Di Pietro; Antonella Rapisarda; S Motta; Lorenzo Pavone; Karl-Heinz Grzeschik; Giovanni Sichel
Localization of the human genes encoding the two subunits of general transcription factor TFIIE.
Genomics 1994;23(1):253-5.
1994: A Vortkamp; Manfred Gessler; D Le Paslier; R Elaswarapu; S Smith; Karl-Heinz Grzeschik
Isolation of a yeast artificial chromosome contig spanning the Greig cephalopolysyndactyly syndrome (GCPS) gene region.
Genomics 1994;22(3):563-8.
1994: Juergen Kunz; Stephen W Scherer; I Klawitz; S Soder; Y Z Du; N Speich; M Kalff-Suske; Hong-Qiang Heng; Lap-Chee Tsui; Karl-Heinz Grzeschik
Regional localization of 725 human chromosome 7-specific yeast artificial chromosome clones.
Genomics 1994;22(2):439-48.
1994: Michele Purrello; Cinzia Di Pietro; E Mirabile; Antonella Rapisarda; R Rimini; A Tinè; Lorenzo Pavone; S Motta; Karl-Heinz Grzeschik; Giovanni Sichel
Physical mapping at 6q27 of the locus for the TATA box-binding protein, the DNA-binding subunit of TFIID and a component of SL1 and TFIIIB, strongly suggests that it is single copy in the human genome.
Genomics 1994;22(1):94-100.
1994: Karl-Heinz Grzeschik; Lap-Chee Tsui; Eric Green
Report and abstracts of the First International Workshop on Human Chromosome 7 Mapping 1993.
Cytogenetics and cell genetics 1994;65(1-2):52-73.
1992: Manfred Gessler; A Grupe; Karl-Heinz Grzeschik; O Pongs
The potassium channel gene HK1 maps to human chromosome 11p14.1, close to the FSHB gene.
Human genetics 1992;90(3):319-21.
1992: M Wolf; J Klug; R Hackenberg; Manfred Gessler; Karl-Heinz Grzeschik; Miguel Beato; Guntram Suske
Human CC10, the homologue of rabbit uteroglobin: genomic cloning, chromosomal localization and expression in endometrial cell lines.
Human molecular genetics 1992;1(6):371-8.
1992: Manuela C Koch; Klaus Steinmeyer; C Lorenz; Kenneth Ricker; F Wolf; M Otto; B Zoll; F Lehmann-Horn; Karl-Heinz Grzeschik; Thomas J Jentsch
The skeletal muscle chloride channel in dominant and recessive human myotonia.
Science (New York, N.Y.) 1992;257(5071):797-800.
1992: H Sartor; F Ehlert; Karl-Heinz Grzeschik; Rolf Mueller; S Adolph
Assignment of two human cell cycle genes, CDC25C and CCNB1, to 5q31 and 5q12, respectively.
Genomics 1992;13(3):911-2.
1992: I Giannakudis; K W von Gudenberg; C Heid; Karl-Heinz Grzeschik
A series of hypervariable minisatellites at the D7S464 locus.
Human molecular genetics 1992;1(2):140.
1992: A Vortkamp; T Franz; Manfred Gessler; Karl-Heinz Grzeschik
Deletion of GLI3 supports the homology of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutant extra toes (Xt).
Mammalian genome : official journal of the International Mammalian Genome Society 1992;3(8):461-3.
1991: A Vortkamp; U Thias; Manfred Gessler; W Rosenkranz; Peter M Kroisel; Niels Tommerup; G Krüger; J Götz; L Pelz; Karl-Heinz Grzeschik
A somatic cell hybrid panel and DNA probes for physical mapping of human chromosome 7p.
Genomics 1991;11(3):737-43.
1991: A Vortkamp; Manfred Gessler; Karl-Heinz Grzeschik
GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families.
Nature 1991;352(6335):539-40.
1991: Michele Purrello; Saverio Bettuzzi; Cinzia Di Pietro; E Mirabile; M Di Blasi; R Rimini; Karl-Heinz Grzeschik; C Ingletti; Arnaldo Corti; Giovanni Sichel
The gene for SP-40,40, human homolog of rat sulfated glycoprotein 2, rat clusterin, and rat testosterone-repressed prostate message 2, maps to chromosome 8.
Genomics 1991;10(1):151-6.
1990: A Jobs; D Klein-Bölting; A S Jandel; A Driesel; K Olek; Karl-Heinz Grzeschik
Regional assignment of 41 human DNA fragments on chromosome 7 by means of a somatic cell hybrid panel.
Human genetics 1990;84(2):147-50.