Bonin M - Search Results

1

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: bonin m. 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.

2

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.

Berkel S, Marshall CR, Weiss B, Howe J, Roeth R, Moog U, Endris V, Roberts W, Szatmari P, Pinto D, Bonin M, Riess A, Engels H, Sprengel R, Scherer SW, Rappold GA. Berkel S, et al. Among authors: bonin m. Nat Genet. 2010 Jun;42(6):489-91. doi: 10.1038/ng.589. Epub 2010 May 16. Nat Genet. 2010. PMID: 20473310

3

A small terminal deletion 11q in a boy without Jacobsen syndrome: narrowing the critical region for the 11q Jacobsen syndrome phenotype.

Evers C, Janssen JW, Jauch A, Bonin M, Moog U. Evers C, et al. Among authors: bonin m. Am J Med Genet A. 2012 Mar;158A(3):680-4. doi: 10.1002/ajmg.a.34433. Epub 2012 Feb 2. Am J Med Genet A. 2012. PMID: 22302716 No abstract available.

4

Interstitial 9q34.11-q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palate.

Tzschach A, Grasshoff U, Schäferhoff K, Bonin M, Dufke A, Wolff M, Haas-Lude K, Bevot A, Riess O. Tzschach A, et al. Among authors: bonin m. Am J Med Genet A. 2012 Jul;158A(7):1709-12. doi: 10.1002/ajmg.a.35398. Epub 2012 May 25. Am J Med Genet A. 2012. PMID: 22639460

5

Interstitial 3p25.3-p26.1 deletion in a patient with intellectual disability.

Riess A, Grasshoff U, Schäferhoff K, Bonin M, Riess O, Horber V, Tzschach A. Riess A, et al. Among authors: bonin m. Am J Med Genet A. 2012 Oct;158A(10):2587-90. doi: 10.1002/ajmg.a.35562. Epub 2012 Sep 10. Am J Med Genet A. 2012. PMID: 22965684

6

12q24.33 deletion: report of a patient with intellectual disability and review of the literature.

Kehrer M, Singer S, Grasshoff U, Schäferhoff K, Bonin M, Riess O, Schöning M, Tzschach A. Kehrer M, et al. Among authors: bonin m. Am J Med Genet A. 2013 Jun;161A(6):1409-13. doi: 10.1002/ajmg.a.35877. Epub 2013 Apr 23. Am J Med Genet A. 2013. PMID: 23613162 Review.

7

Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature.

Begemann M, Spengler S, Gogiel M, Grasshoff U, Bonin M, Betz RC, Dufke A, Spier I, Eggermann T. Begemann M, et al. Among authors: bonin m. J Med Genet. 2012 Sep;49(9):547-53. doi: 10.1136/jmedgenet-2012-100967. Epub 2012 Jul 26. J Med Genet. 2012. PMID: 22844132 Free PMC article. Review.

8

Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability.

Gazou A, Riess A, Grasshoff U, Schäferhoff K, Bonin M, Jauch A, Riess O, Tzschach A. Gazou A, et al. Among authors: bonin m. Am J Med Genet A. 2013 Apr;161A(4):860-4. doi: 10.1002/ajmg.a.35778. Epub 2013 Mar 12. Am J Med Genet A. 2013. PMID: 23520119

9

Genome-wide UPD screening in patients with intellectual disability.

Schroeder C, Ekici AB, Moog U, Grasshoff U, Mau-Holzmann U, Sturm M, Vosseler V, Poths S, Rappold G, Riess A, Riess O, Dufke A, Bonin M. Schroeder C, et al. Among authors: bonin m. Eur J Hum Genet. 2014 Oct;22(10):1233-5. doi: 10.1038/ejhg.2014.63. Epub 2014 May 7. Eur J Hum Genet. 2014. PMID: 24801762 Free PMC article.

10

Interstitial duplication of chromosome region 1q25.1q25.3: report of a patient with mild cognitive deficits, tall stature and facial dysmorphisms.

Kehrer M, Liehr T, Benkert T, Singer S, Grasshoff U, Schaeferhoff K, Bonin M, Weichselbaum A, Tzschach A. Kehrer M, et al. Among authors: bonin m. Am J Med Genet A. 2015 Mar;167A(3):653-6. doi: 10.1002/ajmg.a.36943. Am J Med Genet A. 2015. PMID: 25691419

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