Karl-Heinz Grzeschik Selected Research

Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects

3/2013	A novel X-chromosomal microdeletion encompassing congenital hemidysplasia with ichthyosiform erythroderma and limb defects.
12/2010	Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.
9/2010	Left-sided CHILD syndrome caused by a nonsense mutation in exon 7 of the NSDHL gene.
9/2007	Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata.
4/2002	A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement.

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Karl-Heinz Grzeschik Research Topics

Disease

5	Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 03/2013 - 04/2002
1	X-Linked Keratosis Follicularis Spinulosa Decalvans 04/2013
1	Photophobia (Light Sensitivity) 04/2013
1	Ichthyosis (Xeroderma) 04/2013
1	Ichthyosis follicularis atrichia photophobia syndrome 04/2013
1	Acute Myeloid Leukemia (Acute Myelogenous Leukemia) 03/2010
1	Pallister-Hall Syndrome 10/2009
1	Greig cephalopolysyndactyly syndrome 10/2009
1	Chondrodysplasia Punctata (Stippled Epiphyses) 01/2008
1	type 2 Syndactyly 12/2007
1	Brachydactyly type A2 10/2003
1	Williams Syndrome (Williams-Beuren Syndrome) 06/2002
1	Epilepsy (Aura) 03/2002
1	Nephrocalcinosis 12/2001
1	Hypercalciuria 12/2001

Drug/Important Bio-Agent (IBA)

2	Transcription Factors (Transcription Factor)IBA 04/2013 - 10/2009
2	Oxidoreductases (Dehydrogenase)IBA 03/2013 - 04/2002
2	Proteins (Proteins, Gene)FDA Link 03/2013 - 04/2002
2	SteroidsIBA 03/2013 - 04/2002
2	SterolsIBA 12/2010 - 01/2008
2	Nonsense Codon (Nonsense Mutation)IBA 09/2010 - 09/2007
1	Peptide Hydrolases (Proteases)FDA Link 04/2013
1	DNA (Deoxyribonucleic Acid)IBA 03/2013
1	NADP (NADPH)IBA 03/2013
1	Intercellular Signaling Peptides and Proteins (Growth Factors)IBA 03/2010
1	Carrier Proteins (Binding Protein)IBA 01/2008
1	cholesta-5,8-dien-3 beta-olIBA 01/2008
1	zymostenolIBA 01/2008
1	emopamil (levemopamil)IBA 01/2008
1	polyalanineIBA 12/2007
1	Alanine (L-Alanine)FDA Link 12/2007
1	Bone Morphogenetic Proteins (Bone Morphogenetic Protein)IBA 10/2003
1	ElastinIBA 06/2002
1	NAD (NADH)IBA 04/2002
1	Ion Channels (Ion Channel)IBA 03/2002
1	MagnesiumIBA 12/2001
1	CalciumIBA 12/2001