Kutsche K - Search Results

1

Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia.

Dalal A, Bhavani G SL, Togarrati PP, Bierhals T, Nandineni MR, Danda S, Danda D, Shah H, Vijayan S, Gowrishankar K, Phadke SR, Bidchol AM, Rao AP, Nampoothiri S, Kutsche K, Girisha KM. Dalal A, et al. Among authors: kutsche k. Am J Med Genet A. 2012 Nov;158A(11):2820-8. doi: 10.1002/ajmg.a.35620. Epub 2012 Sep 17. Am J Med Genet A. 2012. PMID: 22987568

2

Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation.

Girisha KM, Lewis LE, Phadke SR, Kutsche K. Girisha KM, et al. Among authors: kutsche k. Am J Med Genet A. 2010 Nov;152A(11):2861-4. doi: 10.1002/ajmg.a.33687. Am J Med Genet A. 2010. PMID: 20979192

3

Expanding the phenotype associated with 17q12 duplication: case report and review of the literature.

Bierhals T, Maddukuri SB, Kutsche K, Girisha KM. Bierhals T, et al. Among authors: kutsche k. Am J Med Genet A. 2013 Feb;161A(2):352-9. doi: 10.1002/ajmg.a.35730. Epub 2013 Jan 10. Am J Med Genet A. 2013. PMID: 23307502 Review.

4

Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations.

Bierhals T, Korenke GC, Uyanik G, Kutsche K. Bierhals T, et al. Among authors: kutsche k. Eur J Med Genet. 2013 Jun;56(6):325-30. doi: 10.1016/j.ejmg.2013.03.009. Epub 2013 Apr 3. Eur J Med Genet. 2013. PMID: 23562994 Review.

5

A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis.

Girisha KM, Abdollahpour H, Shah H, Bhavani GS, Graham JM Jr, Boggula VR, Phadke SR, Kutsche K. Girisha KM, et al. Among authors: kutsche k. Am J Med Genet A. 2014 Apr;164A(4):1035-40. doi: 10.1002/ajmg.a.36381. Epub 2014 Jan 23. Am J Med Genet A. 2014. PMID: 24458843

6

Evidence of Germline Mosaicism for a Novel BCOR Mutation in Two Indian Sisters with Oculo-Facio-Cardio-Dental Syndrome.

Danda S, van Rahden VA, John D, Paul P, Raju R, Koshy S, Kutsche K. Danda S, et al. Among authors: kutsche k. Mol Syndromol. 2014 Aug;5(5):251-6. doi: 10.1159/000365768. Epub 2014 Aug 1. Mol Syndromol. 2014. PMID: 25337074 Free PMC article.

7

A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene.

Girisha KM, Kortüm F, Shah H, Alawi M, Dalal A, Bhavani GS, Kutsche K. Girisha KM, et al. Among authors: kutsche k. Eur J Hum Genet. 2016 Aug;24(8):1206-10. doi: 10.1038/ejhg.2015.261. Epub 2015 Dec 16. Eur J Hum Genet. 2016. PMID: 26669664 Free PMC article.

8

Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients.

Girisha KM, Bidchol AM, Graul-Neumann L, Gupta A, Hehr U, Lessel D, Nader S, Shah H, Wickert J, Kutsche K. Girisha KM, et al. Among authors: kutsche k. BMC Med Genet. 2016 Apr 6;17:27. doi: 10.1186/s12881-016-0290-6. BMC Med Genet. 2016. PMID: 27048506 Free PMC article.

9

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.

Kouz K, Lissewski C, Spranger S, Mitter D, Riess A, Lopez-Gonzalez V, Lüttgen S, Aydin H, von Deimling F, Evers C, Hahn A, Hempel M, Issa U, Kahlert AK, Lieb A, Villavicencio-Lorini P, Ballesta-Martinez MJ, Nampoothiri S, Ovens-Raeder A, Puchmajerová A, Satanovskij R, Seidel H, Unkelbach S, Zabel B, Kutsche K, Zenker M. Kouz K, et al. Among authors: kutsche k. Genet Med. 2016 Dec;18(12):1226-1234. doi: 10.1038/gim.2016.32. Epub 2016 Apr 21. Genet Med. 2016. PMID: 27101134 Free article.

10

Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome.

Shukla A, Hebbar M, Harms FL, Kadavigere R, Girisha KM, Kutsche K. Shukla A, et al. Among authors: kutsche k. Am J Med Genet A. 2016 Nov;170(11):2998-3003. doi: 10.1002/ajmg.a.37759. Epub 2016 May 18. Am J Med Genet A. 2016. PMID: 27191798

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