Gen Nishimura Selected Research

blomstrand type Chondrodysplasia

11/2022

Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosis.

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Gen Nishimura Research Topics

Disease

6	Osteochondrodysplasias (Spondyloepiphyseal Dysplasia) 01/2018 - 01/2003
4	Osteogenesis Imperfecta (Lobstein Disease) 05/2018 - 01/2012
4	Pseudoachondroplasia 01/2018 - 01/2003
4	Diastrophic dysplasia 04/2010 - 06/2006
3	Megalencephaly 08/2020 - 05/2014
3	Antley-Bixler Syndrome Phenotype 05/2009 - 01/2005
2	Hearing Loss (Hearing Impairment) 01/2021 - 01/2016
2	type 1 Stickler syndrome 01/2021 - 01/2016
2	Kniest dysplasia 01/2021 - 09/2011
2	Sensorineural Hearing Loss 08/2020 - 04/2017
2	Hyperparathyroidism 07/2020 - 01/2018
2	Cone-Rod Dystrophies 01/2020 - 10/2011
2	Hypophosphatasia 01/2018 - 05/2017
2	Cataract (Cataracts) 04/2017 - 01/2016
2	Retinal Degeneration 01/2016 - 10/2011
2	Neutropenia 07/2014 - 04/2007
2	Cartilage-hair hypoplasia 11/2007 - 12/2003
2	Tuberculosis (Tuberculoses) 05/2005 - 09/2004
1	Osteosclerosis 11/2022
1	Micrognathism 11/2022
1	blomstrand type Chondrodysplasia 11/2022
1	Osteomyelitis 08/2022
1	Lymphadenitis (Adenitis) 08/2022
1	Acromesomelic dysplasia 01/2022
1	Strudwick syndrome 01/2022
1	Ciliopathies 10/2021
1	Developmental Bone Diseases (Bone Dysplasia) 06/2021
1	Dysosteosclerosis 04/2021
1	Hemophagocytic Lymphohistiocytosis (Hemophagocytic Syndrome) 01/2021
1	Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome) 01/2021
1	Visceral Leishmaniasis (Kala Azar) 01/2021
1	Primrose syndrome 08/2020
1	Beckwith-Wiedemann Syndrome (Exomphalos Macroglossia Gigantism Syndrome) 01/2020
1	Pseudodiastrophic dysplasia 01/2020
1	Hereditary Sensory and Autonomic Neuropathies (HSAN) 01/2020
1	Self Mutilation 01/2020
1	Scoliosis 05/2019
1	Spondylocarpotarsal synostosis 05/2019
1	Tarsal Coalition 05/2019
1	Achondrogenesis 02/2019
1	Clubfoot (Talipes Equinovarus) 01/2019
1	Respiratory Insufficiency (Respiratory Failure) 01/2019
1	Desbuquois syndrome 01/2019
1	Birth Weight (Birth Weights) 05/2018
1	Robinow Syndrome 03/2018
1	Spontaneous Fractures (Pathological Fracture) 12/2017
1	Metabolic Bone Diseases (Osteopenia) 12/2017
1	Muscle Hypotonia (Hypotonia) 04/2017
1	Leigh Disease (Leigh's Disease) 04/2017
1	Spondyloenchondrodysplasia 01/2017

Drug/Important Bio-Agent (IBA)

7	Collagen Type II (Type II Collagen)IBA 01/2021 - 08/2003
6	Proteins (Proteins, Gene)FDA Link 10/2021 - 01/2006
4	Proteoglycans (Proteoglycan)IBA 01/2020 - 06/2006
4	Cartilage Oligomeric Matrix ProteinIBA 01/2018 - 01/2003
4	Sulfate TransportersIBA 04/2010 - 06/2006
3	Growth Hormone (Somatotropin)IBA 04/2017 - 01/2017
3	Cytochrome P-450 Enzyme System (Cytochrome P450)IBA 05/2009 - 01/2005
3	Oxidoreductases (Dehydrogenase)IBA 05/2009 - 01/2005
2	RNA (Ribonucleic Acid)IBA 10/2021 - 11/2007
2	Protein Isoforms (Isoforms)IBA 06/2021 - 11/2014
2	Nonsense Codon (Nonsense Mutation)IBA 03/2018 - 03/2010
2	N- (4'- fluorobutyrophenone)- 4- (4- chlorophenyl)pyridinium (HPP(+))IBA 01/2018 - 05/2017
2	Alkaline PhosphataseIBA 05/2017 - 01/2002
2	alpha2 Subunit Collagen Type IIBA 01/2016 - 07/2015
2	CollagenIBA 01/2016 - 01/2007
2	Hormones (Hormone)IBA 11/2014 - 02/2006
2	OligonucleotidesIBA 05/2014 - 01/2010
2	Aromatase deficiencyIBA 05/2009 - 02/2006
1	Lysergic Acid Diethylamide (LSD)IBA 11/2022
1	Parathyroid Hormone (Parathormone)IBA 11/2022
1	Acute-Phase Proteins (Acute-Phase Protein)IBA 08/2022
1	Natriuretic PeptidesIBA 01/2022
1	aminotris(methylenephosphonato)diamminoplatinum (II) (AMDP)IBA 01/2022
1	Lamin B ReceptorIBA 01/2022
1	Protein Kinases (Protein Kinase)IBA 01/2022
1	4-nitrophenylphosphorylcholine (NPPC)IBA 01/2022
1	NucleotidesIBA 10/2021
1	Complementary DNA (cDNA)IBA 10/2021
1	Collagen Type XIIBA 01/2021
1	Glucose (Dextrose)FDA LinkGeneric 08/2020
1	Transient Receptor Potential ChannelsIBA 07/2020
1	Cytokine Receptor gp130IBA 01/2020
1	3-(2-carboxyindol-3-yl)propionic acidIBA 01/2020
1	Transaminases (Aminotransferases)IBA 01/2020
1	Myosin Heavy Chains (Myosin Heavy Chain)IBA 05/2019
1	FilaminsIBA 05/2019
1	Carrier Proteins (Binding Protein)IBA 05/2019
1	Polysaccharides (Glycans)IBA 02/2019
1	GlycosaminoglycansIBA 01/2019
1	Pamidronate (Aredia)FDA LinkGeneric 05/2018
1	Messenger RNA (mRNA)IBA 01/2018
1	CalciumIBA 01/2018
1	Vitamin D FDA LinkGeneric 12/2017
1	Diphosphonates (Bisphosphonates)IBA 12/2017
1	Isoleucine (L-Isoleucine)FDA Link 04/2017
1	Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA 04/2017
1	Acid PhosphataseIBA 01/2017

Therapy/Procedure

2	Hematopoietic Stem Cell Transplantation 01/2021 - 07/2014
1	Transjugular Intrahepatic Portasystemic Shunt 08/2022
1	Artificial Respiration (Mechanical Ventilation) 01/2019