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Norio Niikawa Selected Research

Laurin-Sandrow syndrome

1/2002A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet.

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Norio Niikawa Research Topics

Disease

2Acrodysostosis
11/2014 - 09/2007
2Intellectual Disability (Idiocy)
11/2014 - 06/2013
2Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
04/2011 - 12/2004
2Placenta Previa
09/2008 - 05/2005
1Brachydactyly
11/2014
1Nicolaides Baraitser syndrome
06/2013
1Coffin-Siris syndrome
06/2013
1Inflammation (Inflammations)
09/2011
1Fever (Fevers)
09/2011
1Kabuki syndrome
07/2011
1Inborn Genetic Diseases (Disease, Hereditary)
04/2011
1Spontaneous Abortion (Miscarriage)
04/2011
1Hypertension (High Blood Pressure)
09/2010
1Popliteal Pterygium Syndrome
09/2010
1Arteriovenous Malformations (Arteriovenous Malformation)
09/2010
1Van der Woude syndrome
09/2010
1Anosmia
04/2010
1Hypogonadism (Hypergonadotropic Hypogonadism)
04/2010
1Kallmann Syndrome (Kallmann's Syndrome)
04/2010
1Breast Neoplasms (Breast Cancer)
06/2009
1Placenta Accreta
09/2008
1Tuberculosis (Tuberculoses)
12/2007
1Pulmonary Tuberculosis
12/2007
1Genetic Translocation (Chromosomal Translocation)
10/2007
1Opitz trigonocephaly syndrome
10/2007
1Cataract (Cataracts)
09/2007
1Fetofetal Transfusion (Twin Transfusion Syndrome)
06/2007
1Hemorrhage
11/2006
1Cleft Palate (Palate, Cleft)
01/2006
1Cleft Lip (Harelip)
01/2006
1Chromosome Aberrations (Chromosome Abnormalities)
01/2006
1Azoospermia
01/2006
1Ulcerative Colitis
07/2005
1Inflammatory Bowel Diseases (Inflammatory Bowel Disease)
07/2005
1Crohn Disease (Crohn's Disease)
07/2005
1Congenital Diaphragmatic Hernias
07/2005
1Gestational Trophoblastic Disease (Trophoblastic Neoplasms, Gestational)
07/2005
1Hereditary Spastic Paraplegia
02/2005
1Confusion (Bewilderment)
01/2005
1Neoplasms (Cancer)
08/2004
1Marfan Syndrome (Marfan's Syndrome)
08/2004
1Osteoporosis
01/2004
1Beckwith-Wiedemann Syndrome (Exomphalos Macroglossia Gigantism Syndrome)
10/2003
1Pelizaeus-Merzbacher Disease
08/2003
1Prostatic Neoplasms (Prostate Cancer)
03/2003
17 Hereditary Prostate Cancer
03/2003
1Choriocarcinoma
01/2003
1Type 1 Diabetes Mellitus (Autoimmune Diabetes)
09/2002
1Glucose Intolerance
09/2002
1Virilism (Virilization)
08/2002
1Nonaka type Distal myopathy
01/2002
1Laurin-Sandrow syndrome
01/2002

Drug/Important Bio-Agent (IBA)

5Messenger RNA (mRNA)IBA
09/2008 - 05/2005
4Proteins (Proteins, Gene)FDA Link
07/2011 - 01/2002
3DNA (Deoxyribonucleic Acid)IBA
04/2011 - 01/2006
2Hormones (Hormone)IBA
11/2014 - 01/2003
2ChromatinIBA
07/2011 - 10/2003
2Complementary DNA (cDNA)IBA
09/2010 - 01/2006
2Lysine (L-Lysine)FDA Link
09/2007 - 10/2003
2Transforming Growth Factor-beta Type II ReceptorIBA
08/2004 - 01/2004
1Protein Isoforms (Isoforms)IBA
11/2014
1Cyclic AMP Response Element-Binding Protein (Cyclic AMP-Responsive DNA-Binding Protein)IBA
11/2014
1Cyclic AMP-Dependent Protein Kinases (cAMP-Dependent Protein Kinase)IBA
11/2014
1Cyclic AMP (AMP, Cyclic)IBA
11/2014
1Sucrose (Saccharose)IBA
06/2013
1Interleukin-6 (Interleukin 6)IBA
09/2011
1Proteasome Endopeptidase Complex (Proteasome)IBA
09/2011
1Histone MethyltransferasesIBA
07/2011
1Interferon Regulatory FactorsIBA
09/2010
1Type 1 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 1)IBA
04/2010
1ATP-Binding Cassette Transporters (ABC Transporters)IBA
06/2009
1AcetyltransferasesIBA
12/2007
1Antitubercular AgentsIBA
12/2007
1Biomarkers (Surrogate Marker)IBA
12/2007
1Immunoglobulins (Immunoglobulin)IBA
10/2007
1iridalIBA
09/2007
1Codon (Codons)IBA
09/2007
1Glutamic Acid (Glutamate)FDA Link
09/2007
1Cell-Free Nucleic AcidsIBA
11/2006
1Transforming Growth Factor beta3 (TGF beta 3)IBA
01/2006
1CTLA-4 AntigenIBA
07/2005
1Pyridinolcarbamate (P23)IBA
07/2005
1SpastinIBA
02/2005
1Blood Group Antigens (Blood Groups)IBA
01/2005
1DystrophinIBA
12/2004
1FibrillinsIBA
08/2004
1Transforming Growth Factor beta Receptors (TGF beta Receptors)IBA
08/2004
1Histones (Histone)IBA
10/2003
1Histone Deacetylase InhibitorsIBA
03/2003
1Placental Lactogen (Human Placental Lactogen)IBA
01/2003
1AntibodiesIBA
09/2002
1Glucose (Dextrose)FDA LinkGeneric
09/2002
1C-PeptideIBA
09/2002
1Glycated Hemoglobin (Glycosylated Hemoglobin)IBA
09/2002
1Testosterone (Sustanon)FDA Link
08/2002
1Hepatocyte Nuclear Factor 3-alphaIBA
01/2002
1SugarsIBA
01/2002

Therapy/Procedure

1Hysterectomy
09/2008
1Cesarean Section (Caesarean Section)
09/2008
1Blood Transfusion (Blood Transfusions)
01/2005