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UBE3A/E6-AP mutations cause Angelman syndrome.
Kishino T, Lalande M, Wagstaff J. Kishino T, et al. Nat Genet. 1997 Jan;15(1):70-3. doi: 10.1038/ng0197-70. Nat Genet. 1997. PMID: 8988171
Neuron-specific relaxation of Igf2r imprinting is associated with neuron-specific histone modifications and lack of its antisense transcript Air.
Yamasaki Y, Kayashima T, Soejima H, Kinoshita A, Yoshiura K, Matsumoto N, Ohta T, Urano T, Masuzaki H, Ishimaru T, Mukai T, Niikawa N, Kishino T. Yamasaki Y, et al. Hum Mol Genet. 2005 Sep 1;14(17):2511-20. doi: 10.1093/hmg/ddi255. Epub 2005 Jul 21. Hum Mol Genet. 2005. PMID: 16037066
The novel imprinted carboxypeptidase A4 gene ( CPA4) in the 7q32 imprinting domain.
Kayashima T, Yamasaki K, Yamada T, Sakai H, Miwa N, Ohta T, Yoshiura K, Matsumoto N, Nakane Y, Kanetake H, Ishino F, Niikawa N, Kishino T. Kayashima T, et al. Hum Genet. 2003 Mar;112(3):220-6. doi: 10.1007/s00439-002-0891-3. Epub 2003 Jan 28. Hum Genet. 2003. PMID: 12552318
A type of familial cleft of the soft palate maps to 2p24.2-p24.1 or 2p21-p12.
Tsuda M, Yamada T, Mikoya T, Sogabe I, Nakashima M, Minakami H, Kishino T, Kinoshita A, Niikawa N, Hirano A, Yoshiura K. Tsuda M, et al. J Hum Genet. 2010 Feb;55(2):124-6. doi: 10.1038/jhg.2009.131. Epub 2010 Jan 15. J Hum Genet. 2010. PMID: 20075946
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. 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
Congenital arhinia: molecular-genetic analysis of five patients.
Sato D, Shimokawa O, Harada N, Olsen OE, Hou JW, Muhlbauer W, Blinkenberg E, Okamoto N, Kinoshita A, Matsumoto N, Kondo S, Kishino T, Miwa N, Ariga T, Niikawa N, Yoshiura K. Sato D, et al. Am J Med Genet A. 2007 Mar 15;143A(6):546-52. doi: 10.1002/ajmg.a.31613. Am J Med Genet A. 2007. PMID: 17304554
We encountered a sporadic case of congenital arhinia associated with a de novo chromosomal translocation, t(3;12)(q13.2;p11.2). ...
We encountered a sporadic case of congenital arhinia associated with a de novo chromosomal translocation, t(3;12)(q13.2;p11.2). ...
Expression of the Snurf-Snrpn IC transcript in the oocyte and its putative role in the imprinting establishment of the mouse 7C imprinting domain.
Mapendano CK, Kishino T, Miyazaki K, Kondo S, Yoshiura KI, Hishikawa Y, Koji T, Niikawa N, Ohta T. Mapendano CK, et al. J Hum Genet. 2006;51(3):236-243. doi: 10.1007/s10038-005-0351-8. Epub 2006 Jan 21. J Hum Genet. 2006. PMID: 16429232
BAC array CGH reveals genomic aberrations in idiopathic mental retardation.
Miyake N, Shimokawa O, Harada N, Sosonkina N, Okubo A, Kawara H, Okamoto N, Kurosawa K, Kawame H, Iwakoshi M, Kosho T, Fukushima Y, Makita Y, Yokoyama Y, Yamagata T, Kato M, Hiraki Y, Nomura M, Yoshiura K, Kishino T, Ohta T, Mizuguchi T, Niikawa N, Matsumoto N. Miyake N, et al. Am J Med Genet A. 2006 Feb 1;140(3):205-11. doi: 10.1002/ajmg.a.31098. Am J Med Genet A. 2006. PMID: 16419101
A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome.
Harada N, Visser R, Dawson A, Fukamachi M, Iwakoshi M, Okamoto N, Kishino T, Niikawa N, Matsumoto N. Harada N, et al. J Hum Genet. 2004;49(8):440-444. doi: 10.1007/s10038-004-0166-z. Epub 2004 Jul 16. J Hum Genet. 2004. PMID: 15258833
Heterozygous TGFBR2 mutations in Marfan syndrome.
Mizuguchi T, Collod-Beroud G, Akiyama T, Abifadel M, Harada N, Morisaki T, Allard D, Varret M, Claustres M, Morisaki H, Ihara M, Kinoshita A, Yoshiura K, Junien C, Kajii T, Jondeau G, Ohta T, Kishino T, Furukawa Y, Nakamura Y, Niikawa N, Boileau C, Matsumoto N. Mizuguchi T, et al. Nat Genet. 2004 Aug;36(8):855-60. doi: 10.1038/ng1392. Epub 2004 Jul 4. Nat Genet. 2004. PMID: 15235604 Free PMC article.
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