Endo F - Search Results

1

Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency.

Ishibashi F, Nunoi H, Endo F, Matsuda I, Kanegasaki S. Ishibashi F, et al. Among authors: endo f. Hum Genet. 2000 May;106(5):473-81. doi: 10.1007/s004390000288. Hum Genet. 2000. PMID: 10914676

2

Improved superoxide-generating ability by interferon gamma due to splicing pattern change of transcripts in neutrophils from patients with a splice site mutation in CYBB gene.

Ishibashi F, Mizukami T, Kanegasaki S, Motoda L, Kakinuma R, Endo F, Nunoi H. Ishibashi F, et al. Among authors: endo f. Blood. 2001 Jul 15;98(2):436-41. doi: 10.1182/blood.v98.2.436. Blood. 2001. PMID: 11435314 Free article.

3

Maple syrup urine disease: a possible biochemical basis for the clinical heterogeneity.

Indo Y, Akaboshi I, Nobukuni Y, Endo F, Matsuda I. Indo Y, et al. Among authors: endo f. Hum Genet. 1988 Sep;80(1):6-10. doi: 10.1007/BF00451447. Hum Genet. 1988. PMID: 3417306

4

Screening method for prolidase deficiency.

Endo F, Matsuda I. Endo F, et al. Hum Genet. 1981;56(3):349-51. doi: 10.1007/BF00274691. Hum Genet. 1981. PMID: 7239517 No abstract available.

5

Expression of four mutant human ornithine transcarbamylase genes in cultured Cos 1 cells relates to clinical phenotypes.

Matsuura T, Hoshide R, Setoyama C, Komaki S, Kiwaki K, Endo F, Nishikawa S, Matsuda I. Matsuura T, et al. Among authors: endo f. Hum Genet. 1994 Feb;93(2):129-34. doi: 10.1007/BF00210596. Hum Genet. 1994. PMID: 8112735

6

Prenatal monitoring in a family at high risk for ornithine transcarbamylase (OTC) deficiency: a new mutation of an A-to-C transversion in position +4 of intron 1 of the OTC gene that is likely to abolish enzyme activity.

Hoshide R, Matsuura T, Sagara Y, Kubo T, Shimadzu M, Endo F, Matsuda I. Hoshide R, et al. Among authors: endo f. Am J Med Genet. 1996 Aug 23;64(3):459-64. doi: 10.1002/(SICI)1096-8628(19960823)64:3<459::AID-AJMG3>3.0.CO;2-K. Am J Med Genet. 1996. PMID: 8862622

7

Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomatic older adult.

Matsuda I, Matsuura T, Nishiyori A, Komaki S, Hoshide R, Matsumoto T, Funakoshi M, Kiwaki K, Endo F, Hata A, Shimadzu M, Yoshino M. Matsuda I, et al. Among authors: endo f. J Med Genet. 1996 Aug;33(8):645-8. doi: 10.1136/jmg.33.8.645. J Med Genet. 1996. PMID: 8863155 Free PMC article.

8

Familial lethal inheritance of a mutated paternal gene in females causing X-linked ornithine transcarbamylase (OTC) deficiency.

Komaki S, Matsuura T, Oyanagi K, Hoshide R, Kiwaki K, Endo F, Shimadzu M, Matsuda I. Komaki S, et al. Among authors: endo f. Am J Med Genet. 1997 Mar 17;69(2):177-81. doi: 10.1002/(sici)1096-8628(19970317)69:2<177::aid-ajmg12>3.0.co;2-i. Am J Med Genet. 1997. PMID: 9056557

9

Chloride channel CLCN5 mutations in Japanese children with familial idiopathic low molecular weight proteinuria.

Nakazato H, Yoshimuta J, Karashima S, Matsumoto S, Endo F, Matsuda I, Hattori S. Nakazato H, et al. Among authors: endo f. Kidney Int. 1999 Jan;55(1):63-70. doi: 10.1046/j.1523-1755.1999.00231.x. Kidney Int. 1999. PMID: 9893114 Free article.

10

Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.

Mardy S, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y. Mardy S, et al. Among authors: endo f. Am J Hum Genet. 1999 Jun;64(6):1570-9. doi: 10.1086/302422. Am J Hum Genet. 1999. PMID: 10330344 Free PMC article.

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