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Gen Nishimura Selected Research

Dysostoses

7/2015Sclerosteosis (craniotubular hyperostosis-syndactyly) with complex hyperphalangy of the index finger.
6/2008Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.

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Gen Nishimura Research Topics

Disease

11Osteochondrodysplasias (Spondyloepiphyseal Dysplasia)
08/2012 - 12/2002
3Mental Retardation (Idiocy)
11/2014 - 05/2007
3Developmental Bone Diseases (Bone Dysplasia)
08/2012 - 06/2006
3Joint Instability (Joint Laxity)
12/2011 - 03/2003
3Contracture
06/2010 - 01/2002
2Neoplasms (Cancer)
10/2015 - 03/2002
2Osteogenesis Imperfecta (Lobstein Disease)
07/2015 - 01/2012
2Dysostoses
07/2015 - 06/2008
2Congenital Abnormalities (Deformity)
10/2014 - 06/2010
2Neutropenia
07/2014 - 04/2007
2Chondrodysplasia Punctata (Stippled Epiphyses)
12/2013 - 11/2007
2Chondromatosis
08/2012 - 11/2011
2Dislocations
06/2010 - 06/2008
2Scoliosis
06/2010 - 05/2007
2Infection
06/2010 - 12/2003
2Clubfoot (Talipes Equinovarus)
06/2010 - 10/2005
2Antley-Bixler Syndrome Phenotype
05/2009 - 02/2006
2Hypogonadism (Hypergonadotropic Hypogonadism)
05/2007 - 06/2004
2Exocrine Pancreatic Insufficiency
04/2007 - 03/2004
2Tuberculosis (Tuberculoses)
05/2005 - 09/2004
1X-Linked Dominant Hypophosphatemic Rickets (X-Linked Hypophosphatemia)
10/2015
1Osteolysis
10/2015
1Hyperostosis
07/2015
1Syndactyly (Polysyndactyly)
07/2015
1Teratoma (Teratoid Tumor)
01/2015
1Pseudohypoparathyroidism
10/2014
1Lymphopenia (Lymphocytopenia)
07/2014
1Microcephaly
04/2014
1Chromosome Aberrations (Chromosome Abnormalities)
04/2014
1Malformations of Cortical Development
04/2014
1Aortic Aneurysm (Aneurysm, Aortic)
01/2014
1Cardiomegaly (Heart Hypertrophy)
01/2014
1Hypertrichosis
01/2014
1Craniosynostoses (Craniosynostosis)
01/2014
1Spinal Cord Compression
12/2013
1Campomelic Dysplasia
10/2013
1Hypocalcemia
06/2013
1Connective Tissue Diseases (Connective Tissue Disease)
06/2013
1Hypoparathyroidism
06/2013
1Hajdu-Cheney Syndrome (Multicentric Osteolysis)
03/2013
1Enchondromatosis (Ollier Disease)
08/2012
1Peripheral Nervous System Diseases (PNS Diseases)
08/2012
1Oligomenorrhea
08/2012
1Diaphragmatic Hernia
03/2012
1Heart Diseases (Heart Disease)
03/2012
1Dwarfism
01/2012
1Arthralgia (Joint Pain)
01/2012
1Retinal Degeneration
10/2011
1Retinitis Pigmentosa (Pigmentary Retinopathy)
10/2011
1Autoimmune Diseases (Autoimmune Disease)
02/2011
1Amenorrhea
02/2011
1Primary Ovarian Insufficiency
02/2011
1Ellis-Van Creveld Syndrome (Chondroectodermal Dysplasia)
02/2011
1Chronic Obstructive Pulmonary Disease (COPD)
07/2010
1Channelopathies
07/2010
1Pneumothorax
06/2010
1Mucopolysaccharidosis IV (Morquio Syndrome)
06/2010
1Glaucoma
06/2010

Drug/Important Bio-Agent (IBA)

4Pyle diseaseIBA
10/2014 - 06/2006
4PseudoachondroplasiaIBA
01/2012 - 12/2002
3Collagen Type II (Type II Collagen)IBA
01/2015 - 08/2003
3Parastremmatic dwarfismIBA
08/2012 - 06/2010
3Congenital Talipes EquinovarusIBA
06/2010 - 10/2005
2SclerosteosisIBA
07/2015 - 05/2011
2Collagen Type I (Type I Collagen)IBA
07/2015 - 01/2012
2AcrodysostosisIBA
11/2014 - 10/2014
2SpondyloenchondrodysplasiaIBA
08/2012 - 02/2011
2BrachyolmiaIBA
08/2012 - 07/2010
2Cytochrome P-450 Enzyme System (Cytochrome P450)IBA
05/2009 - 02/2006
2Diastrophic dysplasiaIBA
01/2008 - 06/2006
2Shwachman syndromeIBA
04/2007 - 03/2004
2cartilage matrix proteinIBA
08/2004 - 01/2003
1NeopterinIBA
10/2015
1Octreotide (Sandostatin)FDA LinkGeneric
10/2015
1fibroblast growth factor 23IBA
10/2015
1CytokinesIBA
10/2015
1Glycine (Aminoacetic Acid)FDA LinkGeneric
07/2015
1alpha 2(I) collagenIBA
07/2015
1HormonesIBA
11/2014
1Chromosome 21 monosomyIBA
04/2014
1Cantu syndromeIBA
01/2014
1brachytelephalangic Chondrodysplasia punctataIBA
12/2013
1Ischiopatellar dysplasiaIBA
10/2013
1progeroid form Ehlers-Danlos syndromeIBA
06/2013
1Kenny Caffey syndromeIBA
06/2013
1Gracile bone dysplasiaIBA
06/2013
1Serpentine fibula polycystic kidney syndromeIBA
03/2013
1Calcium Channels (Calcium Channel)IBA
08/2012
1Kozlowski type Spondylometaphyseal dysplasiaIBA
08/2012
1Pallister Killian syndromeIBA
03/2012
1Anorectal atresiaIBA
03/2012
1KinesinIBA
12/2011
12-HydroxyglutaricaciduriaIBA
11/2011
1DNA (Deoxyribonucleic Acid)IBA
11/2011
1Retinaldehyde (Retinal)IBA
10/2011
1Jeune syndromeIBA
02/2011
1GonadotropinsIBA
02/2011
1SodiumIBA
07/2010

Therapy/Procedure

1Hematopoietic Stem Cell Transplantation
07/2014
1Hormone Replacement Therapy (Therapy, Hormone Replacement)
08/2012