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Niels Tommerup Selected Research

Nail-Patella Syndrome (Syndrome, Nail-Patella)

12/2020Paroxysmal Cranial Dyskinesia and Nail-Patella Syndrome Caused by a Novel Variant in the LMX1B Gene.
1/2004Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome.

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Niels Tommerup Research Topics

Disease

4Epilepsy (Aura)
12/2016 - 05/2008
3Neoplasms (Cancer)
12/2020 - 07/2003
3Intellectual Disability (Idiocy)
04/2013 - 06/2003
2Nail-Patella Syndrome (Syndrome, Nail-Patella)
12/2020 - 01/2004
2Hypersensitivity (Allergy)
01/2019 - 01/2018
2Cataract (Cataracts)
01/2019 - 11/2014
2Chromothripsis
01/2018 - 03/2014
2Microcephaly
12/2017 - 05/2008
2Neurodegenerative Diseases (Neurodegenerative Disease)
12/2014 - 07/2003
2Congenital Heart Defects (Congenital Heart Defect)
08/2012 - 04/2012
2Inflammatory Bowel Diseases (Inflammatory Bowel Disease)
03/2007 - 04/2002
1Grebe type Chondrodysplasia
07/2021
1Brachydactyly type C
07/2021
1Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis)
09/2019
1Mobius Syndrome (Moebius Syndrome)
01/2019
1Mental Disorders (Mental Disorder)
01/2016
1Brain Diseases (Brain Disorder)
12/2015
1Nonsyndromic Deafness
07/2015
1Seizures (Absence Seizure)
02/2015
1Spasm (Spasms)
02/2015
1Progressive Myoclonic Epilepsies (Progressive Myoclonic Epilepsy)
02/2014
1Sickle Cell Anemia (Hemoglobin S Disease)
11/2013
1Absence Epilepsy (Childhood Absence Epilepsy)
04/2013
1Autism Spectrum Disorder
01/2013
1Autistic Disorder (Autism)
01/2013
1Idiopathic Generalized Epilepsy
01/2013
1Rolandic Epilepsy (Centrotemporal Epilepsy)
01/2013
1Benign Neonatal Epilepsy (Benign Familial Neonatal Convulsions)
01/2013
1Communicable Diseases (Infectious Diseases)
09/2012
1Infections
09/2012
1Craniofacial Abnormalities
07/2012
1Intervertebral Disc Degeneration
01/2012
1Teratocarcinoma
01/2012
1Leukemia
07/2011
1Polydactyly (Polydactylism)
06/2010
1Triphalangeal Thumb
06/2010
1X-Linked Mental Retardation (Mental Retardation, X Linked)
04/2010
1Aphakia
03/2010
1Acute Myeloid Leukemia (Acute Myelogenous Leukemia)
08/2009
1Cleft Palate (Palate, Cleft)
02/2009
1Cleft Lip (Harelip)
02/2009
1Sleep Initiation and Maintenance Disorders (Insomnia)
01/2009
1Van der Woude syndrome
06/2008
1Popliteal Pterygium Syndrome
06/2008
1Myoclonic Epilepsies (Myoclonic Encephalopathy)
06/2008
1Febrile Seizures (Febrile Seizure)
05/2008
1Glioma (Gliomas)
05/2008
1Fetal Growth Retardation (Intrauterine Growth Retardation)
05/2008
1Embryonal Carcinoma
05/2008
1Tics (Tic)
06/2007
1Tourette Syndrome (Tourette's Syndrome)
06/2007
1Nervous System Diseases (Neurological Disorders)
06/2007
1Coronary Disease (Coronary Heart Disease)
03/2007
1Ovarian Epithelial Carcinoma
03/2007

Drug/Important Bio-Agent (IBA)

13Proteins (Proteins, Gene)FDA Link
09/2019 - 06/2003
5Transcription Factors (Transcription Factor)IBA
12/2020 - 01/2004
4DNA (Deoxyribonucleic Acid)IBA
12/2020 - 04/2002
3MicroRNAs (MicroRNA)IBA
12/2014 - 01/2007
2Nonsense Codon (Nonsense Mutation)IBA
07/2015 - 03/2010
2NucleotidesIBA
03/2014 - 01/2013
2Tyrosine (L-Tyrosine)FDA Link
05/2008 - 01/2002
1Growth Differentiation Factor 5IBA
07/2021
1Long Noncoding RNAIBA
01/2019
1plexinIBA
01/2019
1Semaphorins (Semaphorin)IBA
01/2019
1Deoxyribonuclease I (Nickase)IBA
01/2019
1Histones (Histone)IBA
01/2019
1Deoxyribonucleases (DNase)FDA Link
01/2018
1RetinoidsIBA
12/2016
1Cytoplasmic and Nuclear Receptors (Nuclear Receptors)IBA
12/2016
1Protein Isoforms (Isoforms)IBA
01/2016
1ChromatinIBA
01/2016
1Glucose Transporter Type 1IBA
12/2015
1Anticonvulsants (Antiepileptic Drugs)IBA
02/2015
1Myosins (Myosin)IBA
11/2014
1dihydroceramide desaturaseIBA
02/2014
1Messenger RNA (mRNA)IBA
02/2014
1Blood Group Antigens (Blood Groups)IBA
11/2013
1Alkaline PhosphataseIBA
04/2013
1Guanosine Triphosphate (GTP)IBA
02/2013
1Immunoglobulin E (IgE)IBA
01/2013
1Voltage-Gated Potassium Channels (Voltage-Gated Potassium Channel)IBA
01/2013
1Potassium Channels (Potassium Channel)IBA
01/2013
1Genetic Markers (Genetic Marker)IBA
01/2012
1RE1-silencing transcription factorIBA
01/2012
1Cadherins (E-Cadherin)IBA
07/2011
1ElementsIBA
06/2010
1Histone DemethylasesIBA
04/2010
1Cysteine (L-Cysteine)FDA Link
03/2010
1EnzymesIBA
03/2010
1Codon (Codons)IBA
03/2010
1Biological ProductsIBA
02/2009
1OsteopontinIBA
02/2009
1GABA-A Receptors (GABA(A) Receptor)IBA
01/2009
1gephyrinIBA
01/2009
1Interferon Regulatory FactorsIBA
06/2008
1Sodium Channels (Sodium Channel)IBA
06/2008
1Phosphotransferases (Kinase)IBA
05/2008

Therapy/Procedure

1Therapeutics
02/2015
1Ligation
04/2012