Hackmann K - Search Results

1

Expanding the clinical and neuroradiological phenotype of 6q27 microdeletion: olfactory bulb aplasia and anosmia.

Gerber JC, Neuhann TM, Tyshchenko N, Smitka M, Hackmann K. Gerber JC, et al. Among authors: hackmann k. Am J Med Genet A. 2011 Aug;155A(8):1981-6. doi: 10.1002/ajmg.a.34079. Epub 2011 Jul 8. Am J Med Genet A. 2011. PMID: 21744487

2

1.6Mb deletion in chromosome band 3q29 associated with eye abnormalities.

Tyshchenko N, Hackmann K, Gerlach EM, Neuhann T, Schrock E, Tinschert S. Tyshchenko N, et al. Among authors: hackmann k. Eur J Med Genet. 2009 Mar-Jun;52(2-3):128-30. doi: 10.1016/j.ejmg.2009.03.002. Epub 2009 Mar 17. Eur J Med Genet. 2009. PMID: 19298871

3

Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia.

Endris V, Hackmann K, Neuhann TM, Grasshoff U, Bonin M, Haug U, Hahn G, Schallner JC, Schröck E, Tinschert S, Rappold G, Moog U. Endris V, et al. Among authors: hackmann k. Am J Med Genet A. 2010 Nov;152A(11):2908-11. doi: 10.1002/ajmg.a.33692. Am J Med Genet A. 2010. PMID: 20979196 No abstract available.

4

A new autosomal dominant syndrome of distinctive face showing ptosis and prominent eyes associated with cleft palate, ear anomalies, and learning disability.

Tyshchenko N, Neuhann TM, Gerlach E, Hahn G, Heisch K, Rump A, Schrock E, Tinschert S, Hackmann K. Tyshchenko N, et al. Among authors: hackmann k. Am J Med Genet A. 2011 Sep;155A(9):2060-5. doi: 10.1002/ajmg.a.34159. Epub 2011 Aug 10. Am J Med Genet A. 2011. PMID: 21834043

5

A further patient with van Maldergem syndrome.

Neuhann TM, Müller D, Hackmann K, Holzinger S, Schrock E, Di Donato N. Neuhann TM, et al. Among authors: hackmann k. Eur J Med Genet. 2012 Jun;55(6-7):423-8. doi: 10.1016/j.ejmg.2012.02.012. Epub 2012 Mar 13. Eur J Med Genet. 2012. PMID: 22469822

6

De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.

Becker K, Di Donato N, Holder-Espinasse M, Andrieux J, Cuisset JM, Vallée L, Plessis G, Jean N, Delobel B, Thuresson AC, Annerén G, Ravn K, Tümer Z, Tinschert S, Schrock E, Jønch AE, Hackmann K. Becker K, et al. Among authors: hackmann k. Eur J Med Genet. 2012 Aug-Sep;55(8-9):490-7. doi: 10.1016/j.ejmg.2012.03.003. Epub 2012 Apr 12. Eur J Med Genet. 2012. PMID: 22561202 Review.

7

Severe intellectual disability, West syndrome, Dandy-Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3.

Hackmann K, Stadler A, Schallner J, Franke K, Gerlach EM, Schrock E, Rump A, Fauth C, Tinschert S, Oexle K. Hackmann K, et al. Am J Med Genet A. 2013 Dec;161A(12):3144-9. doi: 10.1002/ajmg.a.36155. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 24039006

8

Distinct phenotype of PHF6 deletions in females.

Di Donato N, Isidor B, Lopez Cazaux S, Le Caignec C, Klink B, Kraus C, Schrock E, Hackmann K. Di Donato N, et al. Among authors: hackmann k. Eur J Med Genet. 2014 Feb;57(2-3):85-9. doi: 10.1016/j.ejmg.2013.12.003. Epub 2013 Dec 28. Eur J Med Genet. 2014. PMID: 24380767

9

Interstitial deletion 1p36.32 in two brothers with a distinct phenotype--overgrowth, macrocephaly and nearly normal intellectual function.

Di Donato N, Klink B, Hahn G, Schrock E, Hackmann K. Di Donato N, et al. Among authors: hackmann k. Eur J Med Genet. 2014 Sep;57(9):494-7. doi: 10.1016/j.ejmg.2014.05.004. Epub 2014 May 23. Eur J Med Genet. 2014. PMID: 24862882

10

6q22.33 microdeletion in a family with intellectual disability, variable major anomalies, and behavioral abnormalities.

Mackenroth L, Hackmann K, Beyer A, Schallner J, Novotna B, Klink B, Schröck E, Di Donato N. Mackenroth L, et al. Among authors: hackmann k. Am J Med Genet A. 2015 Nov;167A(11):2800-7. doi: 10.1002/ajmg.a.37266. Epub 2015 Sep 3. Am J Med Genet A. 2015. PMID: 26334553

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