M Zenker Selected Research

Encephalocraniocutaneous lipomatosis

10/2016

Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis.

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M Zenker Research Topics

Disease

1	Intellectual Disability (Idiocy) 12/2020
1	Microcephaly 10/2020
1	Encephalocraniocutaneous lipomatosis 10/2016
1	Aplasia Cutis Congenita with Epibulbar Dermoids 10/2016
1	Diarrhea 06/2014
1	Failure to Thrive 06/2014
1	Anorectal Malformations 09/2012
1	Squamous Cell Carcinoma of Head and Neck 09/2012
1	Hypertelorism 09/2012
1	Neoplasms (Cancer) 09/2012
1	Infantile Hypophosphatasia 01/2009
1	Nephrocalcinosis 01/2009
1	Pierson syndrome 09/2006
1	Frasier Syndrome 01/2006
1	Renal Insufficiency (Renal Failure) 10/2005
1	Wilms Tumor (Wilm's Tumor) 10/2005
1	Thrombosis (Thrombus) 07/2002
1	Superior Vena Cava Syndrome (Superior Vena Cava Obstruction) 07/2002
1	Wounds and Injuries (Trauma) 05/2002
1	Hydrophthalmos 08/2001
1	Glaucoma 08/2001
1	Quadriplegia (Spastic Quadriplegia) 06/2000

Drug/Important Bio-Agent (IBA)

3	Codon (Codons)IBA 10/2016 - 08/2001
1	NFI Transcription FactorsIBA 12/2020
1	sphingosine 1-phosphate lyase (aldolase)IBA 10/2020
1	EnzymesIBA 06/2014
1	Cetuximab (Erbitux)FDA Link 09/2012
1	Pentetic Acid (DTPA)FDA LinkGeneric 09/2012
1	CalciumIBA 01/2009
1	Alkaline PhosphataseIBA 01/2009
1	Proteins (Proteins, Gene)FDA Link 08/2001
1	Amino Acids FDA Link 08/2001
1	Nonsense Codon (Nonsense Mutation)IBA 08/2001
1	Cytochrome P-450 Enzyme System (Cytochrome P450)IBA 08/2001

Therapy/Procedure

2	Catheters 07/2002 - 06/2000
1	Aftercare (After-Treatment) 09/2012
1	Colostomy 09/2012
1	Radiotherapy 09/2012
1	Castration 01/2006
1	Nephrectomy 10/2005
1	Transplantation 10/2005
1	Drug Therapy (Chemotherapy) 10/2005
1	Thrombolytic Therapy 07/2002
1	Thrombectomy 07/2002
1	Conservative Treatment 05/2002