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Maria Bitner-Glindzicz Selected Research

type 1 Usher syndrome

2/2014Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation.
12/2004Infantile hyperinsulinism associated with enteropathy, deafness and renal tubulopathy: clinical manifestations of a syndrome caused by a contiguous gene deletion located on chromosome 11p.

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Maria Bitner-Glindzicz Research Topics

Disease

10Deafness (Deaf Mutism)
02/2015 - 01/2002
5Hearing Loss (Hearing Impairment)
02/2015 - 01/2002
3Seizures (Seizure)
11/2014 - 05/2009
3Usher Syndromes (Usher Syndrome)
05/2014 - 12/2004
2Sensorineural Hearing Loss
11/2014 - 06/2006
2Atrophy
11/2014 - 02/2014
2Glaucoma
09/2011 - 03/2006
2Leigh Disease (Leigh's Disease)
02/2009 - 11/2006
1Hypothyroidism
02/2015
1Spinocerebellar Degenerations (Marinesco Sjogren Syndrome)
11/2014
1Mental Retardation (Idiocy)
11/2014
1Macrocephaly
11/2014
1Coloboma
05/2014
1Retinal Degeneration
02/2014
1Bacterial Infections (Bacterial Infection)
01/2014
1Epilepsy (Aura)
01/2013
1Ulcer
09/2011
1Corneal Opacity
09/2011
1Synostosis
07/2010
1Mitochondrial Diseases (Mitochondrial Disease)
05/2009
1Lactic Acidosis
05/2009
1Hypertrophic Cardiomyopathy (Asymmetric Septal Hypertrophy)
05/2009
1Diffuse Cerebral Sclerosis of Schilder (Alpers' Disease)
02/2009
1Hepatolenticular Degeneration (Wilson's Disease)
04/2008
1Blepharospasm
07/2007
1Tremor (Tremors)
07/2007
1Blindness (Hysterical Blindness)
07/2007
1Dystonia (Limb Dystonia)
07/2007
1Hypoparathyroidism
02/2007
1Primary Ovarian Insufficiency
10/2006
1Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia)
10/2006
1Parkinsonian Disorders (Parkinsonism)
10/2006
1Congenital Abnormalities (Deformity)
03/2006
1Chronic Kidney Failure (Chronic Renal Failure)
07/2005
1Renal Insufficiency (Renal Failure)
07/2005
1Retinal Dystrophies
12/2004

Drug/Important Bio-Agent (IBA)

4Mitochondrial DNA (mtDNA)IBA
02/2015 - 10/2006
3DNA (Deoxyribonucleic Acid)IBA
01/2013 - 02/2007
2Retinaldehyde (Retinal)IBA
05/2014 - 02/2014
2type 1 Usher syndromeIBA
02/2014 - 12/2004
2Anti-Bacterial Agents (Antibiotics)IBA
01/2014 - 01/2002
2connexin 26IBA
12/2005 - 01/2002
1Ribosomal RNAIBA
02/2015
11-phenyl-3,3-dimethyltriazene (PDT)IBA
02/2015
1Sorting NexinsIBA
11/2014
1RNA (Ribonucleic Acid)IBA
05/2014
1Gentamicins (Gentamicin)FDA LinkGeneric
01/2014
1Pendred syndromeIBA
01/2013
1A-Form DNA (A-DNA)IBA
01/2013
1Carbon MonoxideIBA
01/2013
1cytochrome P-450 CYP1B1 (CYP1B1)IBA
09/2011
1Mesomelia-synostoses syndromeIBA
07/2010
1UbiquinoneIBA
05/2009
1coenzyme Q10 (CoQ10)IBA
05/2009
1Nonsense Codon (Nonsense Mutation)IBA
05/2009
1ubiquinone 9IBA
05/2009
1ManganeseIBA
04/2008
1CopperIBA
04/2008
1RNA Splice SitesIBA
07/2007
1Mohr-Tranebjaerg syndromeIBA
07/2007
1OligonucleotidesIBA
02/2007
1Barakat syndromeIBA
02/2007
1GATA3 Transcription FactorIBA
02/2007
1Succinate Dehydrogenase (Fumarate Reductase)IBA
11/2006
1FlavoproteinsIBA
11/2006
1Axenfeld-Rieger syndromeIBA
03/2006

Therapy/Procedure

1Sign Language
08/2010
1Cochlear Implants (Cochlear Implant)
06/2006
1Renal Replacement Therapy (Therapies, Renal Replacement)
07/2005
1Transplantation (Transplant Recipients)
07/2005