Kutsche K - Search Results

1

HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations?

Wimplinger I, Shaw GM, Kutsche K. Wimplinger I, et al. Among authors: kutsche k. Mol Vis. 2007 Aug 27;13:1475-82. Mol Vis. 2007. PMID: 17893649

2

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

3

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.

4

Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome.

Wimplinger I, Rauch A, Orth U, Schwarzer U, Trautmann U, Kutsche K. Wimplinger I, et al. Among authors: kutsche k. Eur J Med Genet. 2007 Nov-Dec;50(6):421-31. doi: 10.1016/j.ejmg.2007.07.004. Epub 2007 Aug 6. Eur J Med Genet. 2007. PMID: 17845869

5

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.

Najm J, Horn D, Wimplinger I, Golden JA, Chizhikov VV, Sudi J, Christian SL, Ullmann R, Kuechler A, Haas CA, Flubacher A, Charnas LR, Uyanik G, Frank U, Klopocki E, Dobyns WB, Kutsche K. Najm J, et al. Among authors: kutsche k. Nat Genet. 2008 Sep;40(9):1065-7. doi: 10.1038/ng.194. Nat Genet. 2008. PMID: 19165920

6

A severe form of the X-linked microphthalmia with linear skin defects syndrome in a female newborn.

Steichen-Gersdorf E, Griesmaier E, Pientka FK, Kotzot D, Kutsche K. Steichen-Gersdorf E, et al. Among authors: kutsche k. Clin Dysmorphol. 2010 Apr;19(2):82-84. doi: 10.1097/MCD.0b013e32833593b7. Clin Dysmorphol. 2010. PMID: 20179582 No abstract available.

7

Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome.

van Rahden VA, Rau I, Fuchs S, Kosyna FK, de Almeida HL Jr, Fryssira H, Isidor B, Jauch A, Joubert M, Lachmeijer AM, Zweier C, Moog U, Kutsche K. van Rahden VA, et al. Among authors: kutsche k. Orphanet J Rare Dis. 2014 Apr 15;9:53. doi: 10.1186/1750-1172-9-53. Orphanet J Rare Dis. 2014. PMID: 24735900 Free PMC article.

8

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

9

The mouse Arhgef6 gene: cDNA sequence, expression analysis, and chromosome assignment.

Kutsche K, Gal A. Kutsche K, et al. Cytogenet Cell Genet. 2001;95(3-4):196-201. doi: 10.1159/000059346. Cytogenet Cell Genet. 2001. PMID: 12063400

10

Microphthalmia with linear skin defects syndrome (MLS): a male with a mosaic paracentric inversion of Xp.

Kutsche K, Werner W, Bartsch O, von der Wense A, Meinecke P, Gal A. Kutsche K, et al. Cytogenet Genome Res. 2002;99(1-4):297-302. doi: 10.1159/000071607. Cytogenet Genome Res. 2002. PMID: 12900578

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