Kenji Naritomi

Kenji Naritomi

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Kenji Naritomi

Kenji Naritomi

Publications by authors named "Kenji Naritomi"

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28Publications

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A novel nonsense mutation in a patient with intractable epilepsy and cardiac malformation.

Hum Genome Var 2019 13;6:23. Epub 2019 May 13.

1Department of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of the Ryukyus, Nishihara, Japan.

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http://dx.doi.org/10.1038/s41439-019-0053-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6513828PMC
May 2019

Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism.

J Hum Genet 2015 Jan 13;60(1):27-34. Epub 2014 Nov 13.

Department of Otorhinolaryngology-Head and Neck Surgery, University of the Ryukyus, Okinawa, Japan.

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http://dx.doi.org/10.1038/jhg.2014.97DOI Listing
January 2015

A commentary on the promise of whole-exome sequencing in medical genetics.

J Hum Genet 2014 Mar 6;59(3):117-8. Epub 2014 Feb 6.

Department of Medical Genetics, University of the Ryukyus Graduate School of Medicine, Okinawa, Japan.

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http://dx.doi.org/10.1038/jhg.2014.7DOI Listing
March 2014

Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome.

J Obstet Gynaecol Res 2013 Nov 2;39(11):1545-7. Epub 2013 Jul 2.

Departments of Obstetrics and Gynecology, Nagoya City University Graduate School of Medical Sciences, Nagoya; Division of Clinical and Molecular Genetics, Nagoya City University Graduate School of Medical Sciences, Nagoya.

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http://dx.doi.org/10.1111/jog.12081DOI Listing
November 2013

A commentary on the diagnostic utility of exome sequencing in Joubert syndrome and related disorders.

J Hum Genet 2013 Feb 29;58(2):57. Epub 2012 Nov 29.

Department of Medical Genetics, University of the Ryukyus Graduate School of Medicine, Okinawa, Japan.

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http://dx.doi.org/10.1038/jhg.2012.138DOI Listing
February 2013

Identification of Four Novel Synonymous Substitutions in the X-Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum Disorder.

Autism Res Treat 2012 16;2012:724072. Epub 2012 Jul 16.

Department of Medical Genetics, Graduate School of Medicine, University of The Ryukyus, 207 Uehara, Nishihara, Okinawa 903-0215, Japan.

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http://dx.doi.org/10.1155/2012/724072DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3420546PMC
August 2012

Mapping human genetic diversity in Asia.

Science 2009 Dec;326(5959):1541-5

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http://dx.doi.org/10.1126/science.1177074DOI Listing
December 2009

No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome.

Am J Med Genet A 2008 Jul;146A(14):1893-6

Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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http://dx.doi.org/10.1002/ajmg.a.32382DOI Listing
July 2008

Midkine as a novel target for antibody therapy in osteosarcoma.

Biochem Biophys Res Commun 2007 Jul 7;358(3):757-62. Epub 2007 May 7.

Department of Orthopedics, University of the Ryukyus Faculty of Medicine, 207 Uehara, Nishihara, Okinawa 903-0215, Japan.

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http://dx.doi.org/10.1016/j.bbrc.2007.04.183DOI Listing
July 2007

Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1).

Am J Med Genet A 2006 Aug;140(15):1655-7

Department of Pediatrics, University of the Ryukyus School of Medicine, Okinawa, Japan.

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http://dx.doi.org/10.1002/ajmg.a.31341DOI Listing
August 2006

Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations.

Am J Med Genet A 2006 Jun;140(12):1331-2

Department of Medical Genetics, University of the Ryukyus Faculty of Medicine, Okinawa, Japan.

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http://dx.doi.org/10.1002/ajmg.a.31253DOI Listing
June 2006

Trigonocephaly in a boy with paternally inherited deletion 22q11.2 syndrome.

Am J Med Genet A 2006 Jun;140(12):1302-4

Department of Medical Genetics, Kanagawa Children's Medical Center (KCMC), Yokohama, Japan.

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http://dx.doi.org/10.1002/ajmg.a.31297DOI Listing
June 2006

Novel alternative splicing of human faciogenital dysplasia 1 gene.

Congenit Anom (Kyoto) 2004 Sep;44(3):137-41

Department of Medical Genetics, University of Ryukyus Graduate School of Medicine, Okinawa, Japan.

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http://doi.wiley.com/10.1111/j.1741-4520.2004.00026.x
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http://dx.doi.org/10.1111/j.1741-4520.2004.00026.xDOI Listing
September 2004

[Aicardi syndrome].

Authors:
Kenji Naritomi

Ryoikibetsu Shokogun Shirizu 2002 (37 Pt 6):118-21

Department of Medical Genetics, University of the Ryukyus School of Medicine.

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February 2003