Search Results - (Author, Cooperation:B. D. Gelb)
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1Latest Papers from Table of Contents or Articles in PressS. Zaidi ; M. Choi ; H. Wakimoto ; L. Ma ; J. Jiang ; J. D. Overton ; A. Romano-Adesman ; R. D. Bjornson ; R. E. Breitbart ; K. K. Brown ; N. J. Carriero ; Y. H. Cheung ; J. Deanfield ; S. DePalma ; K. A. Fakhro ; J. Glessner ; H. Hakonarson ; M. J. Italia ; J. R. Kaltman ; J. Kaski ; R. Kim ; J. K. Kline ; T. Lee ; J. Leipzig ; A. Lopez ; S. M. Mane ; L. E. Mitchell ; J. W. Newburger ; M. Parfenov ; I. Pe'er ; G. Porter ; A. E. Roberts ; R. Sachidanandam ; S. J. Sanders ; H. S. Seiden ; M. W. State ; S. Subramanian ; I. R. Tikhonova ; W. Wang ; D. Warburton ; P. S. White ; I. A. Williams ; H. Zhao ; J. G. Seidman ; M. Brueckner ; W. K. Chung ; B. D. Gelb ; E. Goldmuntz ; C. E. Seidman ; R. P. Lifton
Nature Publishing Group (NPG)
Published 2013Staff ViewPublication Date: 2013-05-15Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Adult ; Case-Control Studies ; Child ; Chromatin/chemistry/metabolism ; DNA Mutational Analysis ; Enhancer Elements, Genetic/genetics ; Exome/genetics ; Female ; Genes, Developmental/genetics ; Heart Diseases/*congenital/*genetics/metabolism ; Histones/chemistry/*metabolism ; Humans ; Lysine/chemistry/metabolism ; Male ; Methylation ; Mutation ; Odds Ratio ; Promoter Regions, Genetic/geneticsPublished by: -
2Latest Papers from Table of Contents or Articles in PressDe novo mutations in congenital heart disease with neurodevelopmental and other congenital anomaliesJ. Homsy ; S. Zaidi ; Y. Shen ; J. S. Ware ; K. E. Samocha ; K. J. Karczewski ; S. R. DePalma ; D. McKean ; H. Wakimoto ; J. Gorham ; S. C. Jin ; J. Deanfield ; A. Giardini ; G. A. Porter, Jr. ; R. Kim ; K. Bilguvar ; F. Lopez-Giraldez ; I. Tikhonova ; S. Mane ; A. Romano-Adesman ; H. Qi ; B. Vardarajan ; L. Ma ; M. Daly ; A. E. Roberts ; M. W. Russell ; S. Mital ; J. W. Newburger ; J. W. Gaynor ; R. E. Breitbart ; I. Iossifov ; M. Ronemus ; S. J. Sanders ; J. R. Kaltman ; J. G. Seidman ; M. Brueckner ; B. D. Gelb ; E. Goldmuntz ; R. P. Lifton ; C. E. Seidman ; W. K. Chung
American Association for the Advancement of Science (AAAS)
Published 2016Staff ViewPublication Date: 2016-01-20Publisher: American Association for the Advancement of Science (AAAS)Print ISSN: 0036-8075Electronic ISSN: 1095-9203Topics: BiologyChemistry and PharmacologyComputer ScienceMedicineNatural Sciences in GeneralPhysicsKeywords: Brain/abnormalities/metabolism ; Child ; Congenital Abnormalities/genetics ; Exome/genetics ; Heart Defects, Congenital/*diagnosis/*genetics ; Humans ; Mutation ; Nervous System Malformations/*genetics ; Neurogenesis/*genetics ; Prognosis ; RNA Splicing/genetics ; RNA, Messenger/genetics ; RNA-Binding Proteins/genetics ; Repressor Proteins/genetics ; Transcription, GeneticPublished by: -
3Articles: DFG German National LicensesGelb, B. D. ; Spencer, Eric ; Obad, Suliman ; Edelson, Gordon J. ; Faure, Simon ; Weissenbach, Jean ; Desnick, Robert J.
Springer
Published 1996Staff ViewISSN: 1432-1203Source: Springer Online Journal Archives 1860-2000Topics: BiologyMedicineNotes: Abstract Pycnodysostosis (PKND) is a rare, autosomal recessive skeletal dysplasia, which has been mapped previously to a 4-cM interval between D1S442 to D1S305 at chromosome 1q21. Only D1S498 did not recombine with the disease locus in a large, consanguineous Arab family with PKND. In the present studies, five new Généthon markers (D1S2343, D1S2344, D1S2345, D1S2346, and D1S2347) were tested against DNA from this family and against the Stanford G3 diploid radiation hybrid panel. The results permitted ordering of some loci previously mapped at no recombinant distance: D1S442-D1S2344-(D1S498/ D1S2347)-(D1S2343/D1S2345)-D1S2346-D1S305. The PKND critical region was refined to the 2-cM interval from D1S2344 to D1S2343/D1S2347. In addition, sequence-tagged sites were developed for the two PKND candidate genes, IL6R and MCL1. Use of radiation hybrids revealed that IL6R was tightly linked to D1S305, excluding it from the PKND critical region. MCL1 was most tightly linked to D1S498 and D1S2347, placing it within the critical region.Type of Medium: Electronic ResourceURL: