Niikawa N - Search Results

1

Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor beta 3-subunit gene.

Saitoh S, Kubota T, Ohta T, Jinno Y, Niikawa N, Sugimoto T, Wagstaff J, Lalande M. Saitoh S, et al. Among authors: niikawa n. Lancet. 1992 Feb 8;339(8789):366-7. doi: 10.1016/0140-6736(92)91686-3. Lancet. 1992. PMID: 1346439 No abstract available.

2

GABAA receptor beta 3 subunit gene is possibly paternally imprinted in humans.

Kubota T, Niikawa N, Jinno Y, Ishimaru T. Kubota T, et al. Among authors: niikawa n. Am J Med Genet. 1994 Feb 15;49(4):452-3. doi: 10.1002/ajmg.1320490422. Am J Med Genet. 1994. PMID: 8160743 No abstract available.

3

[The GABAA receptor beta 3-subunit gene (GABRB3) as a candidate responsible for central nerve disturbances in Angelman syndrome (AS)].

Saitoh S, Niikawa N. Saitoh S, et al. Among authors: niikawa n. Nihon Rinsho. 1993 Sep;51(9):2409-13. Nihon Rinsho. 1993. PMID: 8411721 Review. Japanese.

4

Angelman syndrome in three siblings: characteristic epileptic seizures and EEG abnormalities.

Sugimoto T, Yasuhara A, Ohta T, Nishida N, Saitoh S, Hamabe J, Niikawa N. Sugimoto T, et al. Among authors: niikawa n. Epilepsia. 1992 Nov-Dec;33(6):1078-82. doi: 10.1111/j.1528-1157.1992.tb01762.x. Epilepsia. 1992. PMID: 1464267

5

Angelman syndrome caused by an identical familial 1,487-kb deletion.

Sato K, Iwakoshi M, Shimokawa O, Sakai H, Ohta T, Saitoh S, Miyake N, Niikawa N, Harada N, Saitsu H, Mizuguchi T, Matsumoto N. Sato K, et al. Among authors: niikawa n. Am J Med Genet A. 2007 Jan 1;143A(1):98-101. doi: 10.1002/ajmg.a.31550. Am J Med Genet A. 2007. PMID: 17152063 No abstract available.

6

Excess functional copy of allele at chromosomal region 11p15 may cause Wiedemann-Beckwith (EMG) syndrome.

Kubota T, Saitoh S, Matsumoto T, Narahara K, Fukushima Y, Jinno Y, Niikawa N. Kubota T, et al. Among authors: niikawa n. Am J Med Genet. 1994 Feb 15;49(4):378-83. doi: 10.1002/ajmg.1320490405. Am J Med Genet. 1994. PMID: 7909196

7

DNA deletion and its parental origin in Angelman syndrome patients.

Hamabe J, Kuroki Y, Imaizumi K, Sugimoto T, Fukushima Y, Yamaguchi A, Izumikawa Y, Niikawa N. Hamabe J, et al. Among authors: niikawa n. Am J Med Genet. 1991 Oct 1;41(1):64-8. doi: 10.1002/ajmg.1320410117. Am J Med Genet. 1991. PMID: 1683160

8

A BsaBI RFLP detected for probe pML34 [D15S9] on chromosome 15q.

Hamabe J, Saitoh S, Niikawa N. Hamabe J, et al. Among authors: niikawa n. Nucleic Acids Res. 1991 Sep 11;19(17):4789. doi: 10.1093/nar/19.17.4789. Nucleic Acids Res. 1991. PMID: 1679924 Free PMC article.

9

Ring chromosome 11 [46,XX,r(11) (p15q25)] associated with clinical features of the 11q- syndrome.

Niikawa N, Jinno Y, Tomiyasu T, Fukushima Y, Kudo K. Niikawa N, et al. Ann Genet. 1981;24(3):172-5. Ann Genet. 1981. PMID: 6974530

10

Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis.

Kuwano A, Mutirangura A, Dittrich B, Buiting K, Horsthemke B, Saitoh S, Niikawa N, Ledbetter SA, Greenberg F, Chinault AC, et al. Kuwano A, et al. Among authors: niikawa n. Hum Mol Genet. 1992 Sep;1(6):417-25. doi: 10.1093/hmg/1.6.417. Hum Mol Genet. 1992. PMID: 1363801

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