Niikawa N - Search Results

1

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.

2

Congenital glaucoma and Silver-Russell phenotype associated with partial trisomy 7q and monosomy 15q.

Kato R, Kishibayashi J, Shimokawa O, Harada N, Niikawa N, Matsumoto N. Kato R, et al. Among authors: niikawa n. Am J Med Genet. 2001 Dec 15;104(4):319-22. Am J Med Genet. 2001. PMID: 11754068

3

Isolated congenital anosmia locus maps to 18p11.23-q12.2.

Ghadami M, Morovvati S, Majidzadeh-A K, Damavandi E, Nishimura G, Kinoshita A, Pasalar P, Komatsu K, Najafi MT, Niikawa N, Yoshiura K. Ghadami M, et al. Among authors: niikawa n. J Med Genet. 2004 Apr;41(4):299-303. doi: 10.1136/jmg.2003.015313. J Med Genet. 2004. PMID: 15060109 Free PMC article. No abstract available.

4

Three novel mutations of the RPGR gene exon ORF15 in three Japanese families with X-linked retinitis pigmentosa.

Yokoyama A, Maruiwa F, Hayakawa M, Kanai A, Vervoort R, Wright AF, Yamada K, Niikawa N, Naōi N. Yokoyama A, et al. Among authors: niikawa n. Am J Med Genet. 2001 Dec 1;104(3):232-8. Am J Med Genet. 2001. PMID: 11754050

5

Frequent loss of imprinting of the H19 and IGF-II genes in ovarian tumors.

Kim HT, Choi BH, Niikawa N, Lee TS, Chang SI. Kim HT, et al. Among authors: niikawa n. Am J Med Genet. 1998 Dec 4;80(4):391-5. doi: 10.1002/(sici)1096-8628(19981204)80:4<391::aid-ajmg16>3.0.co;2-h. Am J Med Genet. 1998. PMID: 9856569

6

Translocation t(X;21)(q13.3; p11.1) in a girl with Menkes disease.

Sugio Y, Sugio Y, Kuwano A, Miyoshi O, Yamada K, Niikawa N, Tsukahara M. Sugio Y, et al. Among authors: niikawa n. Am J Med Genet. 1998 Sep 23;79(3):191-4. doi: 10.1002/(sici)1096-8628(19980923)79:3<191::aid-ajmg7>3.0.co;2-q. Am J Med Genet. 1998. PMID: 9788559

7

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

8

Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41.

Makita Y, Yamada K, Miyamoto A, Okuno A, Niikawa N. Makita Y, et al. Among authors: niikawa n. Am J Med Genet. 1999 Sep 17;86(3):285-8. doi: 10.1002/(sici)1096-8628(19990917)86:3<285::aid-ajmg18>3.0.co;2-e. Am J Med Genet. 1999. PMID: 10482882

9

Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2.

Li M, Zackai EH, Niikawa N, Kaplan P, Driscoll DA. Li M, et al. Among authors: niikawa n. Am J Med Genet. 1996 Oct 16;65(2):101-3. doi: 10.1002/(SICI)1096-8628(19961016)65:2<101::AID-AJMG3>3.0.CO;2-V. Am J Med Genet. 1996. PMID: 8911598

10

Confirmation of Down syndrome critical region by FISH analysis in a patient with add(21) (p11).

Matsumoto N, Niikawa N, Mikawa M. Matsumoto N, et al. Among authors: niikawa n. Am J Med Genet. 1995 Dec 4;59(4):521-2. doi: 10.1002/ajmg.1320590422. Am J Med Genet. 1995. PMID: 8585576 No abstract available.

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