Kuwano A - Search Results

1

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. Hum Mol Genet. 1992 Sep;1(6):417-25. doi: 10.1093/hmg/1.6.417. Hum Mol Genet. 1992. PMID: 1363801

2

Dinucleotide repeat polymorphism at the D15S11 locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15.

Mutirangura A, Kuwano A, Ledbetter SA, Chinault AC, Ledbetter DH. Mutirangura A, et al. Among authors: kuwano a. Hum Mol Genet. 1992 May;1(2):139. doi: 10.1093/hmg/1.2.139-a. Hum Mol Genet. 1992. PMID: 1301155 No abstract available.

3

Dinucleotide repeat polymorphism at the GABAA receptor beta 3 (GABRB3) locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15.

Mutirangura A, Ledbetter SA, Kuwano A, Chinault AC, Ledbetter DH. Mutirangura A, et al. Among authors: kuwano a. Hum Mol Genet. 1992 Apr;1(1):67. doi: 10.1093/hmg/1.1.67. Hum Mol Genet. 1992. PMID: 1338690 No abstract available.

4

Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly.

Ledbetter SA, Kuwano A, Dobyns WB, Ledbetter DH. Ledbetter SA, et al. Among authors: kuwano a. Am J Hum Genet. 1992 Jan;50(1):182-9. Am J Hum Genet. 1992. PMID: 1346078 Free PMC article.

5

Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization.

Kuwano A, Ledbetter SA, Dobyns WB, Emanuel BS, Ledbetter DH. Kuwano A, et al. Am J Hum Genet. 1991 Oct;49(4):707-14. Am J Hum Genet. 1991. PMID: 1897521 Free PMC article.

6

Isochromosome 15q of maternal origin in two Prader-Willi syndrome patients previously diagnosed erroneously as cytogenetic deletions.

Saitoh S, Mutirangura A, Kuwano A, Ledbetter DH, Niikawa N. Saitoh S, et al. Among authors: kuwano a. Am J Med Genet. 1994 Mar 1;50(1):64-7. doi: 10.1002/ajmg.1320500114. Am J Med Genet. 1994. PMID: 7909198

7

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A.

Lupski JR, Wise CA, Kuwano A, Pentao L, Parke JT, Glaze DG, Ledbetter DH, Greenberg F, Patel PI. Lupski JR, et al. Among authors: kuwano a. Nat Genet. 1992 Apr;1(1):29-33. doi: 10.1038/ng0492-29. Nat Genet. 1992. PMID: 1301995

8

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: kuwano a. 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

9

Mosaicism for del(17)(p11.2p11.2) underlying the Smith-Magenis syndrome.

Juyal RC, Kuwano A, Kondo I, Zara F, Baldini A, Patel PI. Juyal RC, et al. Among authors: kuwano a. Am J Med Genet. 1996 Dec 11;66(2):193-6. doi: 10.1002/(SICI)1096-8628(19961211)66:2<193::AID-AJMG13>3.0.CO;2-O. Am J Med Genet. 1996. PMID: 8958329

10

Precise chromosomal locations of the genes for dentatorubral-pallidoluysian atrophy (DRPLA), von Willebrand factor (F8vWF) and parathyroid hormone-like hormone (PTHLH) in human chromosome 12p by deletion mapping.

Kuwano A, Morimoto Y, Nagai T, Fukushima Y, Ohashi H, Hasegawa T, Kondo I. Kuwano A, et al. Hum Genet. 1996 Jan;97(1):95-8. doi: 10.1007/BF00218841. Hum Genet. 1996. PMID: 8557270

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