Kutsche K - Search Results

1

Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome.

Horn D, Chyrek M, Kleier S, Lüttgen S, Bolz H, Hinkel GK, Korenke GC, Riess A, Schell-Apacik C, Tinschert S, Wieczorek D, Gillessen-Kaesbach G, Kutsche K. Horn D, et al. Among authors: kutsche k. Eur J Hum Genet. 2005 May;13(5):563-9. doi: 10.1038/sj.ejhg.5201391. Eur J Hum Genet. 2005. PMID: 15770227

2

A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a.

Harms FL, Weiss D, Lisfeld J, Alawi M, Kutsche K. Harms FL, et al. Among authors: kutsche k. Neurogenetics. 2023 Jul;24(3):171-180. doi: 10.1007/s10048-023-00716-w. Epub 2023 Apr 11. Neurogenetics. 2023. PMID: 37039969

3

De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.

Harms FL, Dingemans AJM, Hempel M, Pfundt R, Bierhals T, Casar C, Müller C, Niermeijer JF, Fischer J, Jahn A, Hübner C, Majore S, Agolini E, Novelli A, van der Smagt J, Ernst R, van Binsbergen E, Mancini GMS, van Slegtenhorst M, Barakat TS, Wakeling EL, Kamath A, Downie L, Pais L, White SM, de Vries BBA, Kutsche K. Harms FL, et al. Among authors: kutsche k. Genet Med. 2023 Oct;25(10):100927. doi: 10.1016/j.gim.2023.100927. Epub 2023 Jul 6. Genet Med. 2023. PMID: 37422718 Free article.

4

Hecher L, Harms FL, Lisfeld J, Alawi M, Denecke J, Kutsche K. Hecher L, et al. Among authors: kutsche k. Neurogenetics. 2023 Apr;24(2):79-93. doi: 10.1007/s10048-023-00709-9. Epub 2023 Jan 19. Neurogenetics. 2023. PMID: 36653678

5

TMCO3, a Putative K⁺ :Proton Antiporter at the Golgi Apparatus, Is Important for Longitudinal Growth in Mice and Humans.

Holling T, Brylka L, Scholz T, Bierhals T, Herget T, Meinecke P, Schinke T, Oheim R, Kutsche K. Holling T, et al. Among authors: kutsche k. J Bone Miner Res. 2023 Sep;38(9):1334-1349. doi: 10.1002/jbmr.4827. Epub 2023 Aug 9. J Bone Miner Res. 2023. PMID: 37554015 Free article.

6

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.

Bolz H, von Brederlow B, Ramírez A, Bryda EC, Kutsche K, Nothwang HG, Seeliger M, del C-Salcedó Cabrera M, Vila MC, Molina OP, Gal A, Kubisch C. Bolz H, et al. Among authors: kutsche k. Nat Genet. 2001 Jan;27(1):108-12. doi: 10.1038/83667. Nat Genet. 2001. PMID: 11138009

7

Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genes.

Kutsche K, Ressler B, Katzera HG, Orth U, Gillessen-Kaesbach G, Morlot S, Schwinger E, Gal A. Kutsche K, et al. Hum Mutat. 2002 May;19(5):526-35. doi: 10.1002/humu.10072. Hum Mutat. 2002. PMID: 11968085

8

No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome.

Tröger B, Kutsche K, Bolz H, Lüttgen S, Gal A, Almassy Z, Caliebe A, Freisinger P, Hobbiebrunken E, Morlot M, Stefanova M, Streubel B, Wieczorek D, Meinecke P. Tröger B, et al. Among authors: kutsche k. Am J Med Genet A. 2003 Aug 15;121A(1):82-4. doi: 10.1002/ajmg.a.20122. Am J Med Genet A. 2003. PMID: 12900909 No abstract available.

9

A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.

Martínez-Garay I, Tomás M, Oltra S, Ramser J, Moltó MD, Prieto F, Meindl A, Kutsche K, Martínez F. Martínez-Garay I, et al. Among authors: kutsche k. Eur J Hum Genet. 2007 Jan;15(1):29-34. doi: 10.1038/sj.ejhg.5201717. Epub 2006 Oct 11. Eur J Hum Genet. 2007. PMID: 17033686

10

Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.

Wimplinger I, Morleo M, Rosenberger G, Iaconis D, Orth U, Meinecke P, Lerer I, Ballabio A, Gal A, Franco B, Kutsche K. Wimplinger I, et al. Among authors: kutsche k. Am J Hum Genet. 2006 Nov;79(5):878-89. doi: 10.1086/508474. Epub 2006 Sep 6. Am J Hum Genet. 2006. PMID: 17033964 Free PMC article.

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