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LETM1, a novel gene encoding a putative EF-hand Ca(2+)-binding protein, flanks the Wolf-Hirschhorn syndrome (WHS) critical region and is deleted in most WHS patients.
Endele S, Fuhry M, Pak SJ, Zabel BU, Winterpacht A. Endele S, et al. Genomics. 1999 Sep 1;60(2):218-25. doi: 10.1006/geno.1999.5881. Genomics. 1999. PMID: 10486213
We have cloned and characterized a novel gene (LETM1) that is deleted in nearly all WHS patients. LETM1 encodes a putative member of the EF-hand family of Ca(2+)-binding proteins. The protein contains two EF-hands, a transmembrane domain, a leucine zip …
We have cloned and characterized a novel gene (LETM1) that is deleted in nearly all WHS patients. LETM1 encodes a putative mem …
Grebe dysplasia and the spectrum of CDMP1 mutations.
Stelzer C, Winterpacht A, Spranger J, Zabel B. Stelzer C, et al. Pediatr Pathol Mol Med. 2003 Jan-Feb;22(1):77-85. doi: 10.1080/pdp.22.1.77.85. Pediatr Pathol Mol Med. 2003. PMID: 12687891
PCR amplification and sequencing of the cartilage-derived morphogenetic protein 1 (CDMP1) gene of the parents led to the identification of a heterozygous insertion of a single G at nucleotide 206. ...A dominant negative action on other bone morphogenetic prot …
PCR amplification and sequencing of the cartilage-derived morphogenetic protein 1 (CDMP1) gene of the parents led to the identification of …
LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein.
Schlickum S, Moghekar A, Simpson JC, Steglich C, O'Brien RJ, Winterpacht A, Endele SU. Schlickum S, et al. Genomics. 2004 Feb;83(2):254-61. doi: 10.1016/j.ygeno.2003.08.013. Genomics. 2004. PMID: 14706454
We have shown that LETM1 is evolutionarily conserved throughout the eukaryotic kingdom and exhibits homology to MDM38, a putative yeast protein involved in mitochondrial morphology. ...The present study presents information about a possible function for LETM1 and su …
We have shown that LETM1 is evolutionarily conserved throughout the eukaryotic kingdom and exhibits homology to MDM38, a putative yea …
LMX1B transactivation and expression in nail-patella syndrome.
Dreyer SD, Morello R, German MS, Zabel B, Winterpacht A, Lunstrum GP, Horton WA, Oberg KC, Lee B. Dreyer SD, et al. Hum Mol Genet. 2000 Apr 12;9(7):1067-74. doi: 10.1093/hmg/9.7.1067. Hum Mol Genet. 2000. PMID: 10767331
Lmx1b, a member of the LIM homeodomain protein family, is essential for the specification of dorsal limb fates at the zeugopodal and autopodal level in vertebrates. We and others have shown that a skeletal dysplasia, nail-patella syndrome (NPS), results from mutatio …
Lmx1b, a member of the LIM homeodomain protein family, is essential for the specification of dorsal limb fates at the zeugopodal and …
Isolation, characterization, and mapping of a zinc finger gene, ZFP95, containing both a SCAN box and an alternatively spliced KRAB A domain.
Dreyer SD, Zheng Q, Zabel B, Winterpacht A, Lee B. Dreyer SD, et al. Genomics. 1999 Nov 15;62(1):119-22. doi: 10.1006/geno.1999.5981. Genomics. 1999. PMID: 10585779
Sequence analysis indicates that ZFP95 contains 12 highly conserved zinc finger motifs at the C-terminus and a SCAN box as well as a KRAB A domain at the N-terminus of the protein. ZFP95 represents a member of a new subclass of Krüppel zinc fing …
Sequence analysis indicates that ZFP95 contains 12 highly conserved zinc finger motifs at the C-terminus and a SCAN box as well as …
Ten novel mutations found in Aniridia.
Wolf MT, Lorenz B, Winterpacht A, Drechsler M, Schumacher V, Royer-Pokora B, Blankenagel A, Zabel B, Wildhardt G. Wolf MT, et al. Hum Mutat. 1998;12(5):304-13. doi: 10.1002/(SICI)1098-1004(1998)12:5<304::AID-HUMU3>3.0.CO;2-D. Hum Mutat. 1998. PMID: 9792406
Aniridia (AN) is a sight-threatening congenital ocular disorder characterized by iris hypoplasia, corneal pannus, foveal and optic nerve hypoplasia, cataract formation, and glaucoma. ...They result most probably in haploinsufficiency and consequently in a reduced pr …
Aniridia (AN) is a sight-threatening congenital ocular disorder characterized by iris hypoplasia, corneal pannus, foveal and optic ne …
Human fibroblast growth factor receptor 3 gene (FGFR3): genomic sequence and primer set information for gene analysis.
Wüchner C, Hilbert K, Zabel B, Winterpacht A. Wüchner C, et al. Hum Genet. 1997 Aug;100(2):215-9. doi: 10.1007/s004390050493. Hum Genet. 1997. PMID: 9254852
We used the intron sequences to design a set of primers that allow amplification of the 17 exons (2-18) that encode the complete open reading frame. ...
We used the intron sequences to design a set of primers that allow amplification of the 17 exons (2-18) that encode the complete open …
Molecular cloning and chromosomal assignment of the human homologue of the rat cGMP-inhibited phosphodiesterase 1 (PDE3A)--a gene involved in fat metabolism located at 11p 15.1.
Löbbert RW, Winterpacht A, Seipel B, Zabel BU. Löbbert RW, et al. Genomics. 1996 Oct 15;37(2):211-8. doi: 10.1006/geno.1996.0544. Genomics. 1996. PMID: 8921398
In addition, weaker expression is seen in pancreas, skeletal muscle, liver, placenta, and heart. cDNA clones from the homologue mouse gene were isolated and sequenced spanning a highly conserved region coding for a C-terminal located catalytic core region of this en …
In addition, weaker expression is seen in pancreas, skeletal muscle, liver, placenta, and heart. cDNA clones from the homologue mouse gene w …
A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia.
Zabel B, Hilbert K, Stöss H, Superti-Furga A, Spranger J, Winterpacht A. Zabel B, et al. Am J Med Genet. 1996 May 3;63(1):123-8. doi: 10.1002/(SICI)1096-8628(19960503)63:1<123::AID-AJMG22>3.0.CO;2-P. Am J Med Genet. 1996. PMID: 8723097
We report on a patient with a skeletal dysplasia characterized by short stature, spondylo-epiphyseal involvement, and brachydactyly E-like changes. ...A frameshift as consequence of a 5 bp duplication in exon 51 leads to a stop codon. The result …
We report on a patient with a skeletal dysplasia characterized by short stature, spondylo-epiphyseal involvement, and brachyda …
New point mutation (R243W) in the hormone binding domain of the c-erbA beta 1 gene in a family with generalized resistance to thyroid hormone.
Pohlenz J, Schönberger W, Wemme H, Winterpacht A, Wirth S, Zabel B. Pohlenz J, et al. Hum Mutat. 1996;7(1):79-81. doi: 10.1002/(SICI)1098-1004(1996)7:1<79::AID-HUMU15>3.0.CO;2-P. Hum Mutat. 1996. PMID: 8664910
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