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65
results
for author:"Grzeschik K.-H."
in Literature Citations
| IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response. Oeffner F., Fischer G., Happle R., Konig A., Betz R.C., Bornholdt D., Neidel U., Boente M.d.e.l. C., Redler S., Romero-Gomez J. et al. Am. J. Hum. Genet. 84:459-467(2009) · Mapped (2) |
| PORCN mutations in focal dermal hypoplasia: coping with lethality. Bornholdt D., Oeffner F., Koenig A., Happle R., Alanay Y., Ascherman J., Benke P.J., Boente M.C., van der Burgt I., Chassaing N. et al. |
| Involvement of GTA protein NC2beta in neuroblastoma pathogenesis suggests that it physiologically participates in the regulation of cell proliferation. Di Pietro C., Ragusa M., Barbagallo D., Duro L.R., Guglielmino M.R., Majorana A., Giunta V., Rapisarda A., Tricarichi E., Miceli M. et al. Mol. Cancer 7:52-52(2008) · Mapped (3) |
| Congenital, low penetrance lymphedema of lower limbs maps to chromosome 6q16.2-q22.1 in an inbred Pakistani family. Malik S., Grzeschik K.H. Hum. Genet. 123:197-205(2008) · Mapped (4) |
| Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences. Malik S., Girisha K.M., Wajid M., Roy A.K., Phadke S.R., Haque S., Ahmad W., Koch M.C., Grzeschik K.H. BMC Med. Genet. 8:78-78(2007) · Mapped (1) |
| Genomics, evolution, and expression of TBPL2, a member of the TBP family. Di Pietro C., Ragusa M., Duro L., Guglielmino M.R., Barbagallo D., Carnemolla A., Lagana A., Buffa P., Angelica R., Rinaldi A. et al. DNA Cell Biol. 26:369-385(2007) · UniProtKB (14) |
| Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. Grzeschik K.-H., Bornholdt D., Oeffner F., Koenig A., del Carmen Boente M., Enders H., Fritz B., Hertl M., Grasshoff U., Hoefling K. et al. |
| Multiple familial trichoepithelioma caused by mutations in the cylindromatosis tumor suppressor gene. Salhi A., Bornholdt D., Oeffner F., Malik S., Heid E., Happle R., Grzeschik K.H. Cancer Res. 64:5113-5117(2004) · Mapped (4) |
| Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. Lehmann K., Seemann P., Stricker S., Sammar M., Meyer B., Suering K., Majewski F., Tinschert S., Grzeschik K.-H., Mueller D. et al. Proc. Natl. Acad. Sci. U.S.A. 100:12277-12282(2003) · UniProtKB (1) · Mapped (2) |
| Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations. Debeer P., Peeters H., Driess S., De Smet L., Freese K., Matthijs G., Bornholdt D., Devriendt K., Grzeschik K.-H., Fryns J.-P. et al. Am. J. Med. Genet. A 120:49-58(2003) · UniProtKB (1) |
| Human chromosome 7: DNA sequence and biology. Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R. et al. Science 300:767-772(2003) · UniProtKB (658) |
| Gene symbol: GLI3. Disease: Pallister-Hall syndrome. Freese K., Driess S., Bornholdt D., Shoenle E.J., Seidel H., Tinschert S., Grzeschik K.H., Kalff-Suske M. Hum. Genet. 112:103-103(2003) · Mapped (2) |
| Gene symbol: GLI3. Disease: Greig cephalopolysyndactyly syndrome. Driess S., Freese K., Bornholdt D., Kobelt A., Kress W., Mortier G., Radhakrishna U., Antonarakis S.E., Rauch A., Suri M. et al. Hum. Genet. 112:103-103(2003) · Mapped (2) |
| The LGI1 gene involved in lateral temporal lobe epilepsy belongs to a new subfamily of leucine-rich repeat proteins. Gu W., Wevers A., Schroder H., Grzeschik K.H., Derst C., Brodtkorb E., de Vos R., Steinlein O.K. |
| Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome. Doll A., Grzeschik K.-H. Cytogenet. Cell Genet. 95:20-27(2001) · UniProtKB (3) · Mapped (9) |
| 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. Karschin C., Wischmeyer E., Preisig-Mueller R., Rajan S., Derst C., Grzeschik K.-H., Daut J., Karschin A. Mol. Cell. Neurosci. 18:632-648(2001) · UniProtKB (3) |
| Primary gene structure and expression studies of rodent paracellin-1. Weber S., Schlingmann K.P., Peters M., Nejsum L.N., Nielsen S., Engel H., Grzeschik K.H., Seyberth H.W., Grone H.J., Nusing R. et al. J. Am. Soc. Nephrol. 12:2664-2672(2001) · UniProtKB (2) |
| Systematic screening for mutations in the human necdin gene (NDN): identification of two naturally occurring polymorphisms and association analysis in body weight regulation. Oeffner F., Korn T., Roth H., Ziegler A., Hinney A., Goldschmidt H., Siegfried W., Hebebrand J., Grzeschik K.H. Int. J. Obes. Relat. Metab. Disord. 25:767-769(2001) · Mapped (1) |
| Significant association between a silent polymorphism in the neuromedin B gene and body weight in German children and adolescents. Oeffner F., Bornholdt D., Ziegler A., Hinney A., Gorg T., Gerber G., Goldschmidt H.P., Siegfried W., Wright A., Hebebrand J. et al. Acta Diabetol 37:93-101(2000) · Mapped (1) |
| THIK-1 and THIK-2, a novel subfamily of tandem pore domain K+ channels. Rajan S., Wischmeyer E., Karschin C., Preisig-Mueller R., Grzeschik K.-H., Daut J., Karschin A., Derst C. J. Biol. Chem. 276:7302-7311(2001) · UniProtKB (4) |
| Cloning, structure and assignment to chromosome 19q13 of the human Kir2.4 inwardly rectifying potassium channel gene (KCNJ14). Toepert C., Doring F., Derst C., Daut J., Grzeschik K.H., Karschin A. Mamm. Genome 11:247-249(2000) · UniProtKB (1) |
| Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. Konig A., Happle R., Bornholdt D., Engel H., Grzeschik K.H. Am. J. Med. Genet. 90:339-346(2000) · UniProtKB (1) |
| 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. Sobetzko D., Eich G., Kalff-Suske M., Grzeschik K.-H., Superti-Furga A. Am. J. Med. Genet. 90:239-242(2000) · UniProtKB (1) |
| Isolation and characterization of novel CAG repeat containing genes expressed in human brain. Zuehlke C., Kiehl R., Johannsmeyer A., Grzeschik K.H., Schwinger E. DNA Seq. 10:1-6(1999) · UniProtKB (1) |
| The neurobeachin gene (Nbea) identifies a new region of homology between mouse central chromosome 3 and human chromosome 13q13. Gilbert D.J., Engel H., Wang X., Grzeschik K.H., Copeland N.G., Jenkins N.A., Kilimann M.W. Mamm. Genome 10:1030-1031(1999) · Mapped (8) |
