Publications by authors named "Tatsuro Kondoh"

55Publications

Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver-Russell syndrome.

J Hum Genet 2017 Oct 8;62(10):919-922. Epub 2017 Jun 8.

Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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http://dx.doi.org/10.1038/jhg.2017.62DOI Listing
October 2017

Three brothers with a nonsense mutation in caused by parental germline mosaicism.

Hum Genome Var 2017 9;4:17045. Epub 2017 Nov 9.

2Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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http://dx.doi.org/10.1038/hgv.2017.45DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6863403PMC
November 2017

Effects of donepezil and serotonin reuptake inhibitor on acute regression during adolescence in Down syndrome.

Brain Dev 2016 Jan 3;38(1):113-7. Epub 2015 Jul 3.

Division of Child Neurology, Institute of Neurological Science, Faculty of Medicine, Tottori University, Yonago, Japan.

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https://linkinghub.elsevier.com/retrieve/pii/S03877604150012
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http://dx.doi.org/10.1016/j.braindev.2015.06.006DOI Listing
January 2016

Neonatal case of novel KMT2D mutation in Kabuki syndrome with severe hypoglycemia.

Pediatr Int 2015 Aug 5;57(4):726-8. Epub 2015 May 5.

Division of Developmental Disability, Misakaenosono Mutsumi Developmental, Medical, and Welfare Center, Isahaya, Japan.

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http://dx.doi.org/10.1111/ped.12574DOI Listing
August 2015

Assessment of lower urinary tract function in children with Down syndrome.

Pediatr Int 2014 Dec 15;56(6):902-908. Epub 2014 Oct 15.

Department of Pediatrics, Nagasaki University Graduate School of Biomedical Science, Nagasaki, Japan.

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http://dx.doi.org/10.1111/ped.12367DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4311436PMC
December 2014

Familial brain arteriovenous malformation maps to 5p13-q14, 15q11-q13 or 18p11: linkage analysis with clipped fingernail DNA on high-density SNP array.

Eur J Med Genet 2010 Sep-Oct;53(5):244-9. Epub 2010 Jun 22.

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

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http://dx.doi.org/10.1016/j.ejmg.2010.06.007DOI Listing
January 2011

Transcriptional dysregulation in NIPBL and cohesin mutant human cells.

PLoS Biol 2009 May 26;7(5):e1000119. Epub 2009 May 26.

Division of Human Genetics, Abramson Research Institute, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America.

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http://dx.doi.org/10.1371/journal.pbio.1000119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2680332PMC
May 2009

Probable Noonan syndrome in a boy without PTPN11 mutation, manifesting unusual complications.

Pediatr Int 2009 Feb;51(1):138-40

Department of Pediatrics, Nagasaki University School of Medicine, Nagasaki, Japan.

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http://doi.wiley.com/10.1111/j.1442-200X.2008.02774.x
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http://dx.doi.org/10.1111/j.1442-200X.2008.02774.xDOI Listing
February 2009

Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D.

Am J Med Genet A 2009 Feb;149A(4):785-7

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.32335DOI Listing
February 2009

A Japanese patient with a mild Lenz-Majewski syndrome.

J Hum Genet 2007 26;52(8):686-689. Epub 2007 Jun 26.

Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, 1-7-1, Sakamoto, Nagasaki, 852-8501, Japan.

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http://dx.doi.org/10.1007/s10038-007-0165-yDOI Listing
September 2007

[Hall syndrome (Pallister-Hall syndrome)].

Nihon Rinsho 2006 Sep;Suppl 3:591-3

Department of Pediatrics, Nagasaki University School of Medicine.

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September 2006

[Rud syndrome].

Nihon Rinsho 2006 Sep;Suppl 3:485-7

Department of Pediatrics, Nagasaki University School of Medicine.

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September 2006

[Rothmund-Thomson syndrome].

Nihon Rinsho 2006 Sep;Suppl 3:481-4

Department of Pediatrics, Nagasaki University School of Medicine.

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September 2006

Spine and rib abnormalities and stature in spondylocostal dysostosis.

Spine (Phila Pa 1976) 2006 Apr;31(7):E192-7

Department of Pediatric Orthopedics, Shizuoka Children's Hospital, Shizuoka-City, Japan.

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http://dx.doi.org/10.1097/01.brs.0000208166.61618.8fDOI Listing
April 2006

The Jewish-type Cohen syndrome complicated with refractory bronchial asthma and depression.

Pediatr Int 2005 Dec;47(6):691-3

Department of Pediatrics, Nagasaki University School of Medicine, Nagasaki, Japan.

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http://dx.doi.org/10.1111/j.1442-200x.2005.02127.xDOI Listing
December 2005

Two infantile cases of congenital myotonic dystrophy with cholelithiasis/cholestasis.

Pediatr Int 2005 Oct;47(5):586-8

Department of Pediatrics, Nagasaki University School of Medicine, Sagamoto, Nagasaki, Japan.

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http://dx.doi.org/10.1111/j.1442-200x.2005.02104.xDOI Listing
October 2005

Dramatic improvement in Down syndrome-associated cognitive impairment with donepezil.

Ann Pharmacother 2005 Mar 8;39(3):563-6. Epub 2005 Feb 8.

Department of Pediatrics, Nagasaki University Hospital, Sakamoto 1-7-1, Nagasaki 852-8501, Japan.

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http://dx.doi.org/10.1345/aph.1E427DOI Listing
March 2005

Pharmacokinetics of donepezil in Down syndrome.

Ann Pharmacother 2005 Mar 8;39(3):572-3. Epub 2005 Feb 8.

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http://journals.sagepub.com/doi/10.1345/aph.1E512
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http://dx.doi.org/10.1345/aph.1E512DOI Listing
March 2005

Genotype-phenotype correlation of 5p-syndrome: pitfall of diagnosis.

J Hum Genet 2005 16;50(1):26-29. Epub 2004 Dec 16.

Department of Pediatrics, Nagasaki University School of Medicine, 1-7-1 Sakamoto, Nagasaki, 852-8501, Japan.

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http://dx.doi.org/10.1007/s10038-004-0213-9DOI Listing
March 2005

Abnormal folic acid-homocysteine metabolism as maternal risk factors for Down syndrome in Japan.

Eur J Nutr 2004 Oct 6;43(5):285-7. Epub 2004 Jan 6.

Dept. of Public Health, Nagasaki University, Graduate School of Biomedical Sciences, 1-12-4 Sakamoto, Nagasaki 852-8523, Japan.

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http://link.springer.com/10.1007/s00394-004-0472-4
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http://dx.doi.org/10.1007/s00394-004-0472-4DOI Listing
October 2004

Noonan syndrome with leukaemoid reaction and overproduction of catecholamines: a case report.

Eur J Pediatr 2003 Jul 9;162(7-8):548-549. Epub 2003 May 9.

Department of Paediatrics, Nagasaki University School of Medicine, 1-7-1 Sakamoto, 852-8501, Nagasaki, Japan.

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http://dx.doi.org/10.1007/s00431-003-1227-6DOI Listing
July 2003

[Present situation of the genetic medical treatment].

Authors:
Tatsuro Kondoh

Rinsho Byori 2002 Dec;50(12):1107-16

Department of Pediatrics, Genetic Counseling Unit, Nagasaki University School of Medicine, 852-8501.

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December 2002

Mutation analysis of the ALD gene in seven Japanese families with X-linked adrenoleukodystrophy.

J Hum Genet 2003 ;48(3):125-9

Department of Nursing, Nagasaki University School of Medicine, 1-7-1 Sakamoto, Nagasaki 852-8520, Japan.

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http://link.springer.de/link/service/journals/10038/bibs/304
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http://dx.doi.org/10.1007/s100380300019DOI Listing
May 2003

Duplication of 8p23.2: a benign cytogenetic variant?

Am J Med Genet 2002 Aug;111(3):285-8

Department of Human Genetics, Nagasaki University School of Medicine, Nagasaki, Japan.

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http://dx.doi.org/10.1002/ajmg.10584DOI Listing
August 2002

Identification of de novo chromosome rearrangements: five cases analyzed with differential chromosome painting.

Am J Med Genet 2002 Mar;108(3):182-6

Kyushu Medical Science Nagasaki Laboratory, Nagasaki, Japan.

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http://dx.doi.org/10.1002/ajmg.10257DOI Listing
March 2002