Ohishi A - Search Results

1

Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses.

Ohishi A, Nishimura G, Kato F, Ono H, Maruwaka K, Ago M, Suzumura H, Hirose E, Uchida Y, Fukami M, Ogata T. Ohishi A, et al. Am J Med Genet A. 2017 Jan;173(1):157-162. doi: 10.1002/ajmg.a.37992. Epub 2016 Sep 28. Am J Med Genet A. 2017. PMID: 27683237

2

Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients.

Fukami M, Nishimura G, Homma K, Nagai T, Hanaki K, Uematsu A, Ishii T, Numakura C, Sawada H, Nakacho M, Kowase T, Motomura K, Haruna H, Nakamura M, Ohishi A, Adachi M, Tajima T, Hasegawa Y, Hasegawa T, Horikawa R, Fujieda K, Ogata T. Fukami M, et al. Among authors: ohishi a. J Clin Endocrinol Metab. 2009 May;94(5):1723-31. doi: 10.1210/jc.2008-2816. Epub 2009 Mar 3. J Clin Endocrinol Metab. 2009. PMID: 19258400

3

Glucose-6-phosphate dehydrogenase deficiency and adrenal hemorrhage in a filipino neonate with hyperbilirubinemia.

Ohishi A, Ueno D, Ogata T. Ohishi A, et al. AJP Rep. 2013 May;3(1):5-8. doi: 10.1055/s-0032-1329125. Epub 2012 Nov 16. AJP Rep. 2013. PMID: 23943700 Free PMC article.

4

Early vitamin K deficiency bleeding in a neonate associated with maternal Crohn's disease.

Ohishi A, Nakashima S, Ogata T, Iijima S. Ohishi A, et al. J Perinatol. 2014 Aug;34(8):636-9. doi: 10.1038/jp.2014.64. J Perinatol. 2014. PMID: 25073494

5

Clinical and molecular studies in four patients with SRY-positive 46,XX testicular disorders of sex development: implications for variable sex development and genomic rearrangements.

Nakashima S, Ohishi A, Takada F, Kawamura H, Igarashi M, Fukami M, Ogata T. Nakashima S, et al. Among authors: ohishi a. J Hum Genet. 2014 Oct;59(10):549-53. doi: 10.1038/jhg.2014.70. Epub 2014 Aug 7. J Hum Genet. 2014. PMID: 25102093

6

De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions.

Ohishi A, Masunaga Y, Iijima S, Yamoto K, Kato F, Fukami M, Saitsu H, Ogata T. Ohishi A, et al. J Hum Genet. 2020 Jan;65(2):181-186. doi: 10.1038/s10038-019-0690-5. Epub 2019 Oct 23. J Hum Genet. 2020. PMID: 31645653

7

Trisomy 13 and Meckel diverticulum: challenges in management of infants with trisomy 13.

Iijima S, Ohishi A, Mochida Y, Ohzeki T. Iijima S, et al. Among authors: ohishi a. Am J Med Genet A. 2007 Aug 1;143A(15):1749-51. doi: 10.1002/ajmg.a.31817. Am J Med Genet A. 2007. PMID: 17593544 No abstract available.

8

Cytochrome P450 oxidoreductase deficiency with Antley-Bixler syndrome: steroidogenic capacities.

Iijima S, Ohishi A, Ohzeki T. Iijima S, et al. Among authors: ohishi a. J Pediatr Endocrinol Metab. 2009 May;22(5):469-75. doi: 10.1515/jpem.2009.22.5.469. J Pediatr Endocrinol Metab. 2009. PMID: 19618668

9

International normalized ratio testing with point-of-care coagulometer in healthy term neonates.

Iijima S, Baba T, Ueno D, Ohishi A. Iijima S, et al. Among authors: ohishi a. BMC Pediatr. 2014 Jul 9;14:179. doi: 10.1186/1471-2431-14-179. BMC Pediatr. 2014. PMID: 25008798 Free PMC article. Clinical Trial.

10

Seasonal variation in the international normalized ratio of neonates and its relationship with ambient temperature.

Iijima S, Sekii K, Baba T, Ueno D, Ohishi A. Iijima S, et al. Among authors: ohishi a. BMC Pediatr. 2016 Jul 19;16:97. doi: 10.1186/s12887-016-0639-1. BMC Pediatr. 2016. PMID: 27431237 Free PMC article.

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