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10,261 results

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Page 1
Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome.
Watanabe S, Shimizu K, Ohashi H, Kosaki R, Okamoto N, Shimojima K, Yamamoto T, Chinen Y, Mizuno S, Dowa Y, Shiomi N, Toda Y, Tashiro K, Shichijo K, Minatozaki K, Aso S, Minagawa K, Hiraki Y, Shimokawa O, Matsumoto T, Fukuda M, Moriuchi H, Yoshiura K, Kondoh T. Watanabe S, et al. Among authors: matsumoto t. Am J Med Genet A. 2016 Apr;170A(4):908-17. doi: 10.1002/ajmg.a.37496. Epub 2016 Jan 18. Am J Med Genet A. 2016. PMID: 26782913
Genotype-phenotype correlation of 5p-syndrome: pitfall of diagnosis.
Kondoh T, Shimokawa O, Harada N, Doi T, Yun C, Gohda Y, Kinoshita F, Matsumoto T, Moriuchi H. Kondoh T, et al. Among authors: matsumoto t. J Hum Genet. 2005;50(1):26-29. doi: 10.1007/s10038-004-0213-9. Epub 2004 Dec 16. J Hum Genet. 2005. PMID: 15602631
Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.
Kuniba H, Yoshiura K, Kondoh T, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Kaname T, Naritomi K, Matsumoto T, Moriuchi H, Kishino T, Kinoshita A, Miyake N, Matsumoto N, Niikawa N. Kuniba H, et al. Among authors: matsumoto n, matsumoto t. J Hum Genet. 2009 May;54(5):304-9. doi: 10.1038/jhg.2009.30. Epub 2009 Apr 3. J Hum Genet. 2009. PMID: 19343044
On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS.
Miyake N, Harada N, Shimokawa O, Ohashi H, Kurosawa K, Matsumoto T, Fukushima Y, Nagai T, Shotelersuk V, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. Miyake N, et al. Among authors: matsumoto n, matsumoto t. Am J Med Genet A. 2004 Jul 15;128A(2):170-2. doi: 10.1002/ajmg.a.30137. Am J Med Genet A. 2004. PMID: 15214010 No abstract available.
No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients.
Miyake N, Shimokawa O, Harada N, Sosonkina N, Okubo A, Kawara H, Okamoto N, Ohashi H, Kurosawa K, Naritomi K, Kaname T, Nagai T, Shotelersuk V, Hou JW, Fukushima Y, Kondoh T, Matsumoto T, Shinoki T, Kato M, Tonoki H, Nomura M, Yoshiura K, Kishino T, Ohta T, Niikawa N, Matsumoto N. Miyake N, et al. Among authors: matsumoto n, matsumoto t. Am J Med Genet A. 2006 Feb 1;140(3):291-3. doi: 10.1002/ajmg.a.31012. Am J Med Genet A. 2006. PMID: 16278908 No abstract available.
No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome.
Kuniba H, Sato D, Yoshiura K, Ohashi H, Kurosawa K, Miyake N, Kondoh T, Matsumoto T, Nagai T, Okamoto N, Fukushima Y, Naritomi K, Matsumoto N, Niikawa N. Kuniba H, et al. Among authors: matsumoto n, matsumoto t. Am J Med Genet A. 2008 Jul 15;146A(14):1893-6. doi: 10.1002/ajmg.a.32382. Am J Med Genet A. 2008. PMID: 18553519 No abstract available.
Genetic background of hyperphenylalaninemia in Nagasaki, Japan.
Dateki S, Watanabe S, Nakatomi A, Kinoshita E, Matsumoto T, Yoshiura K, Moriuchi H. Dateki S, et al. Among authors: matsumoto t. Pediatr Int. 2016 May;58(5):431-3. doi: 10.1111/ped.12924. Pediatr Int. 2016. PMID: 27173423
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