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Hirofumi Ohashi Selected Research

Kabuki syndrome

9/2013MLL2 and KDM6A mutations in patients with Kabuki syndrome.
1/2013KDM6A point mutations cause Kabuki syndrome.
7/2011Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.
5/2009Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.
3/2002Patellar dislocation in Kabuki syndrome.

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Hirofumi Ohashi Research Topics

Disease

6Mental Retardation (Idiocy)
01/2014 - 05/2009
6Osteochondrodysplasias (Spondyloepiphyseal Dysplasia)
01/2008 - 12/2002
3Infection
08/2014 - 06/2010
3Dislocations
08/2011 - 03/2002
3Contracture
08/2011 - 10/2005
3Clubfoot (Talipes Equinovarus)
08/2011 - 10/2005
2Beckwith-Wiedemann Syndrome (Exomphalos Macroglossia Gigantism Syndrome)
12/2014 - 10/2003
2Noonan Syndrome (Female Pseudo-Turner Syndrome)
07/2013 - 03/2010
2Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos)
08/2011 - 06/2010
2Hematoma
08/2011 - 06/2010
2Congenital Abnormalities (Deformity)
08/2011 - 06/2010
2Exocrine Pancreatic Insufficiency
04/2007 - 03/2004
1Hepatitis B
12/2015
1Teratoma (Teratoid Tumor)
01/2015
1Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)
01/2014
1Microcephaly
01/2014
1Ectropion
09/2013
1Sebaceous of Jadassohn Nevus
07/2013
1Nevus (Nevi)
07/2013
1Connective Tissue Diseases (Connective Tissue Disease)
06/2013
1Sclerosis
06/2012
1Proteinuria
06/2012
1Wilms Tumor (Wilm's Tumor)
06/2012
1Hematologic Neoplasms (Hematological Malignancy)
12/2010
1Hypoplastic Left Heart Syndrome
09/2010
1Cleft Lip (Harelip)
09/2010
1Pneumothorax
06/2010
1Constipation
06/2010
1Fistula
06/2010
1Cicatrix (Scar)
06/2010
1Joint Instability (Joint Laxity)
06/2010
1Hypertelorism
06/2010
1Diverticulum
06/2010
1Strabismus (Squint)
06/2010
1Scoliosis
06/2010
1Refractive Errors (Refractive Error)
06/2010
1Glaucoma
06/2010
1Leiomyoma (Uterine Fibroids)
08/2008
1Synostosis
06/2008
1Legg-Perthes Disease (Perthes Disease)
06/2007
1Neutropenia
04/2007
1Craniosynostoses (Craniosynostosis)
08/2006
1Trisomy (Trisomies)
08/2006
1Pathologic Constriction (Stenosis)
10/2005
1Williams Syndrome (Williams-Beuren Syndrome)
07/2005
1Supravalvular Aortic Stenosis (Aortic Supravalvular Stenosis)
07/2005
1Cardiovascular Diseases (Cardiovascular Disease)
07/2005
1Sudden Death
07/2005
1Pulmonary Valve Stenosis (Pulmonary Stenosis)
07/2005
1Acrocephalosyndactylia (Apert Syndrome)
03/2005
1Leukemia
01/2005
1Angelman Syndrome (Syndrome, Angelman)
04/2004
1Hypopigmentation (Hypomelanosis)
04/2004
1Prader-Willi Syndrome (Syndrome, Prader-Willi)
04/2004

Drug/Important Bio-Agent (IBA)

5Kabuki syndromeIBA
09/2013 - 03/2002
3PseudoachondroplasiaIBA
08/2004 - 12/2002
2Collagen Type II (Type II Collagen)IBA
01/2015 - 06/2007
2Coffin-Siris syndromeIBA
01/2014 - 06/2013
22-Oxoglutarate 5-Dioxygenase Procollagen-Lysine (Lysyl Hydroxylase)IBA
08/2011 - 06/2010
2Congenital Talipes EquinovarusIBA
06/2010 - 10/2005
2Shwachman syndromeIBA
04/2007 - 03/2004
2cartilage matrix proteinIBA
08/2004 - 01/2003
1sodium-bile acid cotransporterIBA
12/2015
1hydrogen sulfite (bisulfite)IBA
12/2014
1Cyclophilins (Cyclophilin)IBA
08/2014
1Proteins (Proteins, Gene)IBA
08/2014
1Interleukin-1 (Interleukin 1)IBA
11/2013
1Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)IBA
11/2013
1Cytidine DeaminaseIBA
11/2013
1CytokinesIBA
11/2013
1ChemokinesIBA
11/2013
1LuciferasesIBA
07/2013
1Protein Kinases (Protein Kinase)IBA
07/2013
1progeroid form Ehlers-Danlos syndromeIBA
06/2013
1Sucrose (Saccharose)IBA
06/2013
1Nicolaides Baraitser syndromeIBA
06/2013
1CollagenIBA
08/2011
1Noonan like syndromeIBA
12/2010
1Krause-Kivlin syndromeIBA
09/2010
1Serine (L-Serine)FDA Link
03/2010
1HormonesIBA
06/2008
1Diastrophic dysplasiaIBA
01/2008
1AmylasesFDA Link
04/2007
1DiamondIBA
04/2007
1ElastinIBA
07/2005
1Kniest dysplasiaIBA
07/2005
1Hand foot uterus syndromeIBA
03/2005
1Antigen-Antibody Complex (Immune Complex)IBA
01/2005
1von Willebrand FactorIBA
11/2004
1Oculocutaneous albinism type 2IBA
04/2004
1Lysine (L-Lysine)FDA Link
10/2003
1ChromatinIBA
10/2003
1Histones (Histone)IBA
10/2003
1Ectrodactyly-cleft lip/palate syndromeIBA
07/2003

Therapy/Procedure

1Lasers (Laser)
12/2014
1Drug Therapy (Chemotherapy)
06/2012
1Radiotherapy
06/2012
1Nephrectomy
06/2012
1Aftercare (After-Treatment)
08/2008
1Sutures (Suture)
08/2006