Publications by authors named "Kimihiko Oishi"

23Publications

Nutritional Management and Biochemical Outcomes during the Immediate Phase after Liver Transplant for Methylmalonic Acidemia.

Nutrients 2020 Sep 29;12(10). Epub 2020 Sep 29.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

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http://dx.doi.org/10.3390/nu12102976DOI Listing
September 2020

Clinical assessment of upper airway and its complications in Hunter Syndrome.

Pediatr Int 2020 Sep 15. Epub 2020 Sep 15.

Department of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan.

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http://dx.doi.org/10.1111/ped.14467DOI Listing
September 2020

Novel missense variants in PCK1 gene cause cytosolic PEPCK deficiency with growth failure from inadequate caloric intake.

J Hum Genet 2020 Sep 9. Epub 2020 Sep 9.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://dx.doi.org/10.1038/s10038-020-00823-8DOI Listing
September 2020

A novel missense variant in RBM10 can cause a mild form of TARP syndrome with developmental delay and dysmorphic features.

Clin Genet 2020 Aug 19. Epub 2020 Aug 19.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://dx.doi.org/10.1111/cge.13835DOI Listing
August 2020

A novel Romani microdeletion variant in the promoter sequence of causes citrullinemia type I.

Mol Genet Metab Rep 2020 Sep 29;24:100619. Epub 2020 Jun 29.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2020.100619DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7330059PMC
September 2020

Knowledge and attitudes on pharmacogenetics among pediatricians.

J Hum Genet 2020 May 27;65(5):437-444. Epub 2020 Jan 27.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.

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http://dx.doi.org/10.1038/s10038-020-0723-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7109006PMC
May 2020

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

J Hum Genet 2019 Dec 17;64(12):1173-1186. Epub 2019 Sep 17.

Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.

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http://dx.doi.org/10.1038/s10038-019-0667-4DOI Listing
December 2019

Protein-losing enteropathy and joint contractures caused by a novel homozygous ANTXR2 mutation.

Adv Genomics Genet 2018 27;8:17-21. Epub 2018 Jun 27.

Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://dx.doi.org/10.2147/AGG.S159077DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057141PMC
June 2018

Skin lesions in a patient with Cobalamin C disease in poor metabolic control.

J Inherit Metab Dis 2018 03 2;41(2):279-280. Epub 2017 Nov 2.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place - Box 1497, New York, NY, 10029, USA.

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http://link.springer.com/10.1007/s10545-017-0102-y
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http://dx.doi.org/10.1007/s10545-017-0102-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6039187PMC
March 2018

Liver transplantation for pediatric inherited metabolic disorders: Considerations for indications, complications, and perioperative management.

Pediatr Transplant 2016 Sep 21;20(6):756-69. Epub 2016 Jun 21.

Departments of Pediatrics, Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://dx.doi.org/10.1111/petr.12741DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142218PMC
September 2016

Efficacy of N-carbamoyl-L-glutamic acid for the treatment of inherited metabolic disorders.

Expert Rev Endocrinol Metab 2016 28;11(6):467-473. Epub 2016 Sep 28.

Department of Genetics and Genomic Sciences, Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://dx.doi.org/10.1080/17446651.2016.1239526DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6054484PMC
September 2016

Glycerol phenylbutyrate for the chronic management of urea cycle disorders.

Expert Rev Endocrinol Metab 2014 Sep 12;9(5):427-434. Epub 2014 Aug 12.

a Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1497, New York, NY 10029, USA.

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http://dx.doi.org/10.1586/17446651.2014.945908DOI Listing
September 2014

The phosphatase SHP2 regulates the spacing effect for long-term memory induction.

Cell 2009 Oct;139(1):186-98

Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA.

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http://dx.doi.org/10.1016/j.cell.2009.08.033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2770243PMC
October 2009

Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development.

Hum Mol Genet 2009 Jan 11;18(1):193-201. Epub 2008 Oct 11.

Department of Pediatrics and the Center for Molecular Cardiology, Mount Sinai School of Medicine, One Gustave L. Levy Place, New York, NY 10029, USA.

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http://dx.doi.org/10.1093/hmg/ddn336DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2644650PMC
January 2009

Transcription factor Ap2delta associates with Ash2l and ALR, a trithorax family histone methyltransferase, to activate Hoxc8 transcription.

Proc Natl Acad Sci U S A 2008 May 21;105(21):7472-7. Epub 2008 May 21.

Departments of Pediatrics, Center for Molecular Cardiology, Mount Sinai School of Medicine, One Gustave L. Levy Place, New York, NY 10029, USA.

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http://dx.doi.org/10.1073/pnas.0711896105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2396708PMC
May 2008

Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations.

Hum Mol Genet 2006 Feb 6;15(4):543-53. Epub 2006 Jan 6.

Departments of Pediatrics and Human Genetics, Mount Sinai School of Medicine, One Gustave L. Levy Place, Box 1498, New York, NY 10029, USA.

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http://dx.doi.org/10.1093/hmg/ddi471DOI Listing
February 2006

Inactivation of NPC1L1 causes multiple lipid transport defects and protects against diet-induced hypercholesterolemia.

J Biol Chem 2005 Apr 25;280(13):12710-20. Epub 2005 Jan 25.

Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA.

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http://dx.doi.org/10.1074/jbc.M409110200DOI Listing
April 2005

Male infertility due to germ cell apoptosis in mice lacking the thiamin carrier, Tht1. A new insight into the critical role of thiamin in spermatogenesis.

Dev Biol 2004 Feb;266(2):299-309

Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA.

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http://dx.doi.org/10.1016/j.ydbio.2003.10.026DOI Listing
February 2004