Yoshino M - Search Results

1

P1148A in fibrillin-1 is not a mutation leading to Shprintzen-Goldberg syndrome.

Watanabe Y, Yano S, Koga Y, Yukizane S, Nishiyori A, Yoshino M, Kato H, Ogata T, Adachi M. Watanabe Y, et al. Among authors: yoshino m. Hum Mutat. 1997;10(4):326-7. doi: 10.1002/(SICI)1098-1004(1997)10:4<326::AID-HUMU10>3.0.CO;2-1. Hum Mutat. 1997. PMID: 9338588 No abstract available.

2

[Shprintzen syndrome].

Yano S, Watanabe Y, Yoshino M. Yano S, et al. Among authors: yoshino m. Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):250-1. Ryoikibetsu Shokogun Shirizu. 2000. PMID: 11057217 Review. Japanese. No abstract available.

3

Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male.

Nishiyori A, Yoshino M, Tananari Y, Matsuura T, Hoshide R, Mastuda I, Mori M, Kato H. Nishiyori A, et al. Among authors: yoshino m. Hum Mutat. 1998;Suppl 1:S131-3. doi: 10.1002/humu.1380110144. Hum Mutat. 1998. PMID: 9452065 No abstract available.

4

Townes-Brocks and Pendred syndrome in the same patient.

Yano S, Watanabe Y, Yoshino M, Aida K, Kato H. Yano S, et al. Among authors: yoshino m. Am J Med Genet. 1998 May 26;77(4):330-1. Am J Med Genet. 1998. PMID: 9600745 No abstract available.

5

MELAS exhibits dominant negative effects on mitochondrial RNA processing.

Koga Y, Yoshino M, Kato H. Koga Y, et al. Among authors: yoshino m. Ann Neurol. 1998 Jun;43(6):835. doi: 10.1002/ana.410430620. Ann Neurol. 1998. PMID: 9629855 No abstract available.

6

The R40H mutation in a late onset type of human ornithine transcarbamylase deficiency in male patients.

Nishiyori A, Yoshino M, Kato H, Matsuura T, Hoshide R, Matsuda I, Kuno T, Miyazaki S, Hirose S, Kuromaru R, Mori M. Nishiyori A, et al. Among authors: yoshino m. Hum Genet. 1997 Feb;99(2):171-6. doi: 10.1007/s004390050333. Hum Genet. 1997. PMID: 9048915

7

RFLP-patterns in Japanese PKU families: new polymorphisms for the mutant phenylalanine hydroxylase gene.

Trefz FK, Yoshino M, Nishiyori A, Aengeneyndt F, Schmidt-Mader B, Lichter-Konecki U, Konecki DS. Trefz FK, et al. Among authors: yoshino m. Hum Genet. 1990 Jun;85(1):121-2. doi: 10.1007/BF00276336. Hum Genet. 1990. PMID: 1972692 No abstract available.

8

Cerebellar and brainstem "atrophy" in a patient with Kabuki make-up syndrome.

Yano S, Matsuishi T, Yoshino M, Kato H, Kojima K. Yano S, et al. Among authors: yoshino m. Am J Med Genet. 1997 Sep 5;71(4):486-7. doi: 10.1002/(sici)1096-8628(19970905)71:4<486::aid-ajmg22>3.0.co;2-b. Am J Med Genet. 1997. PMID: 9286461 No abstract available.

9

Potential pitfall of prenatal enzymatic diagnosis of carbamoyl-phosphate synthetase I deficiency.

Yoshino M, Nishiyori A, Koga Y, Mizushima Y, Maeshiro H, Inoue T, Izumi S, Hatase T, Yakushiji M, Kato H. Yoshino M, et al. J Inherit Metab Dis. 1997 Sep;20(5):711-2. doi: 10.1023/a:1005338812965. J Inherit Metab Dis. 1997. PMID: 9323570 No abstract available.

10

Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD.

Watanabe Y, Benson DW, Yano S, Akagi T, Yoshino M, Murray JC. Watanabe Y, et al. Among authors: yoshino m. J Med Genet. 2002 Nov;39(11):807-11. doi: 10.1136/jmg.39.11.807. J Med Genet. 2002. PMID: 12414819 Free PMC article. No abstract available.

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