Frasier Syndrome is Caused by Defective Alternative Splicing of WT1 Leading to an Altered Ratio of WT1 +/-KTS Splice Isoforms (English)
- New search for: Klamt, Barbara
- New search for: Koziell, Ania
- New search for: Poulat, Francis
- New search for: Wieacker, Peter
- New search for: Scambler, Peter
- New search for: Berta, Philippe
- New search for: Gessler, Manfred
- New search for: Klamt, Barbara
- New search for: Koziell, Ania
- New search for: Poulat, Francis
- New search for: Wieacker, Peter
- New search for: Scambler, Peter
- New search for: Berta, Philippe
- New search for: Gessler, Manfred
In:
Human molecular genetics
;
7
, 4
;
709-
;
1998
- Article (Journal) / Electronic Resource
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Title:Frasier Syndrome is Caused by Defective Alternative Splicing of WT1 Leading to an Altered Ratio of WT1 +/-KTS Splice Isoforms
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Contributors:Klamt, Barbara ( author ) / Koziell, Ania ( author ) / Poulat, Francis ( author ) / Wieacker, Peter ( author ) / Scambler, Peter ( author ) / Berta, Philippe ( author ) / Gessler, Manfred ( author )
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Published in:Human molecular genetics ; 7, 4 ; 709-
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Publisher:
- New search for: Oxford University Press
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Publication date:1998-04-01
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ISSN:
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DOI:
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Type of media:Article (Journal)
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Type of material:Electronic Resource
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Language:English
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Source:
Table of contents – Volume 7, Issue 4
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 581
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A Sea Urchin Gene Encoding Dystrophin-Related ProteinsWang, Jun / Pansky, Avi / Venuti, Judith M. / Yaffe, David / Nudel, Uri et al. | 1998
- 589
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Dystrophins in Vertebrates and InvertebratesRoberts, Roland G. / Bobrow, Martin et al. | 1998
- 597
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IMPT1, an Imprinted Gene Similar to Polyspecific Transporter and Multi-Drug Resistance GenesDao, Diem / Frank, Dale / Qian, Naifeng / O'Keefe, Denise / Vosatka, Robert J. / Walsh, Colum P. / Tycko, Benjamin et al. | 1998
- 609
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Metaphase Fragility of the Human RNU1 and RNU2 Loci is Induced by Actinomycin D through a p53-Dependent PathwayYu, Adong / Bailey, Arnold D. / Weiner, Alan M. et al. | 1998
- 619
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Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G->A, together conferring susceptibility to ethylmalonic aciduriaGregersen, N. / Winter, V. S. / Corydon, M. J. / Corydon, T. J. / Rinaldo, P. / Ribes, A. / Martinez, G. / Bennett, M. J. / Vianey-Saban, C. / Bhala, A. et al. | 1998
- 619
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Identification of Four New Mutations in the Short-Chain Acyl-CoA Dehydrogenase (SCAD) Gene in Two Patients: One of the Variant Alleles, 511C->T, is Present at an Unexpectedly High Frequency in the General Population, as Was the Case for 625G->A, Together Conferring Susceptibility to Ethylmalonic AciduriaGregersen, Niels / Winter, Vibeke S. / Corydon, Morten J. / Corydon, Thomas J. / Rinaldo, Piero / Ribes, Antonia / Bennett, Michael J. / Vianey-Saban, Christine / Bhala, Ajay / Hale, Daniel E. et al. | 1998
- 629
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ES2, a Gene Deleted in DiGeorge Syndrome, Encodes a Nuclear Protein and Is Expressed During Early Mouse Development, Where It Shares an Expression Domain with a Goosecoid-Like GeneLindsay, Elizabeth A. / Harvey, Emma L. / Scambler, Peter J. / Baldini, Antonio et al. | 1998
- 637
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The t(8;13)(p11;q11-12) Rearrangement Associated with an Atypical Myeloproliferative Disorder Fuses the Fibroblast Growth Factor Receptor 1 Gene to a Novel Gene RAMPSmedley, Damian / Hamoudi, Rifat / Clark, Jeremy / Warren, William / Abdul-Rauf, Munah / Somers, Gino / Venter, Deon / Fagan, Kerry / Cooper, Colin / Shipley, Janet et al. | 1998
- 643
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Hypervariable Digital DNA Codes for Human Paternal Lineages: MVR-PCR at the Y-specific Minisatellite, MSY1 (DYF155S1)Jobling, Mark A. / Bouzekri, Nourdine / Taylor, Paul G. et al. | 1998
- 655
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Novel Mutation Processes in the Evolution of a Haploid Minisatellite, MSY1: Array Homogenization Without HomogenizationBouzekri, Nourdine / Taylor, Paul G. / Hammer, Michael F. / Jobling, Mark A et al. | 1998
- 655
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Novel mutation processes in the evolution of a hapioid minisatellite, MSY1: array homogenization without homogenizationBouzekri, N. / Taylor, P. G. / Hammer, M. F. / Jobling, M. A. et al. | 1998
- 661
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Non-Disjunction of Chromosome 18Bugge, Merete / Collins, Andrew / Petersen, Michael B. / Fisher, Julia / Brandt, Carsten / Michael Hertz, Jens / Tranebjaerg, Lisbeth / de Lozier-Blanchet, Celia / Nicolaides, Peter / Brøndum-Nielsen, Karen et al. | 1998
- 671
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Localization of Motor-Related Proteins and Associated Complexes to Active, but Not Inactive, CentromeresFaulkner, Nicole E. / Vig, Baldev / Echeverri, Christophe J. / Wordeman, Linda / Vallee, Richard B. et al. | 1998
- 679
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Specific Interaction between the XNP ATR-X Gene Product and the SET Domain of the Human EZH2 ProteinCardoso, Carlos / Timsit, Serge / Villard, Laurent / Khrestchatisky, Michel / Fontès, Michel / Colleaux, Laurence et al. | 1998
- 685
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Conserved Use of a Non-Canonical 5' Splice Site (/GA) in Alternative Splicing by Fibroblast Growth Factor Receptors 1, 2 and 3Twigg, Stephen R. F. / Burns, Helen D. / Oldridge, Michael / Heath, John K. / Wilkie, Andrew O. M. et al. | 1998
- 693
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Cleavage, Aggregation and Toxicity of the Expanded Androgen Receptor in Spinal and Bulbar Muscular AtrophyMerry, D. E. / Kobayashi, Y. / Bailey, C. K. / Taye, A. A. / Fischbeck, K. H. et al. | 1998
- 703
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Mutation at the Anophthalmia White Locus in Syrian Hamsters: Hploinsufficiency in the Mitf Gene Mimics Human Waardenburg Syndrome Type 2Hodgkinson, Colin A. / Nakayama, Atsuo / Li, Hua / Swenson, Lori-Beth / Opdecamp, Karin / Asher, James H. / Arnheiter, Heinz / Glaser, Tom et al. | 1998
- 703
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Mutation at the anophthalmic white locus in Syrian hamsters: haploinsufficiency in the Mitf gene mimics human Waardenburg syndrome type 2Hodgkinson, C. A. / Nakayama, A. / Li, H. / Swenson, L.-B. / Opdecamp, K. / Asher, J. H. / Arnheiter, H. / Glaser, T. et al. | 1998
- 709
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Frasier Syndrome is Caused by Defective Alternative Splicing of WT1 Leading to an Altered Ratio of WT1 +/-KTS Splice IsoformsKlamt, Barbara / Koziell, Ania / Poulat, Francis / Wieacker, Peter / Scambler, Peter / Berta, Philippe / Gessler, Manfred et al. | 1998
- 715
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Mouse Homologues of the Human AZF Candidate Gene RBM Are Expressed in Spermatogonia and Spermatids, and Map to a Y Chromosome Deletion Interval Associated with a High Incidence of Sperm AbnormalitiesMahadevaiah, Shantha K. / Odorisio, Teresa / Elliott, David J. / Rattigan, Áine / Szot, Maria / Laval, Steven H. / Washburn, Linda L. / McCarrey, John R. / Cattanach, Bruce M. / Lovell-Badge, Robin et al. | 1998
- 729
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A Mutation in the Cystic Fibrosis Transmembrane Conductance Regulator Gene Associated with Elevated Sweat Chloride Concentrations in the Absence of Cystic FibrosisMickle, John E. / Macek, Milan / Fulmer-Smentek, Stephanie B. / Egan, Michelle M. / Schwiebert, Erik / Guggino, William / Moss, Richard / Cutting, Garry R. et al. | 1998
- 737
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The UTX Gene Escapes X Inactivation in Mice and HumansGreenfield, Andy / Carrel, Laura / Pennisi, David / Philippe, Christophe / Quaderi, Nandita / Siggers, Pamela / Steiner, Kirsten / Tam, Patrick P. L. / Monaco, Anthony P. / Willard, Huntington F. et al. | 1998
- 743
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Characterization of lpd (Lipid Defect): A Novel Mutation on Mouse Chromosome 16 Associated with a Defect in Triglyceride MetabolismWen, Xiao-Yan / Bryce, Dawn M. / Breitman, Martin L. et al. | 1998
- 751
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Sequencing of the -synuclein gene in a large series of cases of familial Parkinson's disease fails to reveal any further mutationsVaughan, J. R. / Farrer, M. J. / Wszolek, Z. K. / Gasser, T. / Durr, A. / Agid, Y. / Bonifati, V. / DeMichele, G. / Volpe, G. / Lincoln, S. et al. | 1998
- 751
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Sequencing of the {alpha}-Synuclein Gene in a Large Series of Cases of Familial Parkinson's Disease Fails to Reveal any Further MutationsVaughan, Jenny R. / Farrer, Matthew J. / Wszolek, Zbigniew K. / Gasser, Thomas / Durr, Alexandra / Agid, Yves / Bonifati, Vincenzo / DeMichele, Giuseppe / Volpe, Gianpiero / Lincoln, Sarah et al. | 1998
- 755
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Replication of a Common Fragile Site, FRA3B, Occurs Late in S Phase and is Delayed Further Upon Induction: Implications for the Mechanism of Fragile Site InductionLe Beau, Michelle M. / Rassool, Feyruz V. / Neilly, Mary E. / Espinosa, Rafael / Glover, Thomas W. / Smith, David I. / McKeithan, Timothy W. et al. | 1998