Bonin M - Search Results

1

Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplications.

Bartsch O, Gebauer K, Lechno S, van Esch H, Froyen G, Bonin M, Seidel J, Thamm-Mücke B, Horn D, Klopocki E, Hertzberg C, Zechner U, Haaf T. Bartsch O, et al. Among authors: bonin m. Am J Med Genet A. 2010 Feb;152A(2):305-12. doi: 10.1002/ajmg.a.33198. Am J Med Genet A. 2010. PMID: 20082459

2

Prenatal diagnosis of a recombinant chromosome 7 resulting in trisomy 7q11.22 --> qter.

Tchirikov M, Merinsky A, Strohner M, Bonin M, Beyer V, Haaf T, Bartsch O. Tchirikov M, et al. Among authors: bonin m. Am J Med Genet A. 2010 Mar;152A(3):721-5. doi: 10.1002/ajmg.a.33238. Am J Med Genet A. 2010. PMID: 20186810

3

Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits.

Horn D, Kapeller J, Rivera-Brugués N, Moog U, Lorenz-Depiereux B, Eck S, Hempel M, Wagenstaller J, Gawthrope A, Monaco AP, Bonin M, Riess O, Wohlleber E, Illig T, Bezzina CR, Franke A, Spranger S, Villavicencio-Lorini P, Seifert W, Rosenfeld J, Klopocki E, Rappold GA, Strom TM. Horn D, et al. Among authors: bonin m. Hum Mutat. 2010 Nov;31(11):E1851-60. doi: 10.1002/humu.21362. Hum Mutat. 2010. PMID: 20848658 Free PMC article.

4

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.

Jensen LR, Chen W, Moser B, Lipkowitz B, Schroeder C, Musante L, Tzschach A, Kalscheuer VM, Meloni I, Raynaud M, van Esch H, Chelly J, de Brouwer AP, Hackett A, van der Haar S, Henn W, Gecz J, Riess O, Bonin M, Reinhardt R, Ropers HH, Kuss AW. Jensen LR, et al. Among authors: bonin m. Eur J Hum Genet. 2011 Jun;19(6):717-20. doi: 10.1038/ejhg.2010.244. Epub 2011 Jan 26. Eur J Hum Genet. 2011. PMID: 21267006 Free PMC article.

5

De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation.

Grasshoff U, Bonin M, Goehring I, Ekici A, Dufke A, Cremer K, Wagner N, Rossier E, Jauch A, Walter M, Bauer C, Bauer P, Horber K, Beck-Woedl S, Wieczorek D. Grasshoff U, et al. Among authors: bonin m. Eur J Hum Genet. 2011 May;19(5):507-12. doi: 10.1038/ejhg.2010.226. Epub 2011 Feb 16. Eur J Hum Genet. 2011. PMID: 21326285 Free PMC article.

6

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.

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

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.

9

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.

10

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

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