Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene
Popovic, Maja, Goobie, Sharan, Morrison, Jodi, Ellis, Lynda, Ehtesham, Nadia, Richards, Nicole, Boocock, Graeme, Durie, Peter R, Rommens, Johanna M
Published in European journal of human genetics : EJHG (01.04.2002)
Published in European journal of human genetics : EJHG (01.04.2002)
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Journal Article
Shwachman-Diamond Syndrome with Exocrine Pancreatic Dysfunction and Bone Marrow Failure Maps to the Centromeric Region of Chromosome 7
Goobie, Sharan, Popovic, Maja, Morrison, Jodi, Ellis, Lynda, Ginzberg, Hedy, Boocock, Graeme R.B., Ehtesham, Nadia, Bétard, Christine, Brewer, Carl G., Roslin, Nicole M., Hudson, Thomas J., Morgan, Kenneth, Fujiwara, T. Mary, Durie, Peter R., Rommens, Johanna M.
Published in American journal of human genetics (01.04.2001)
Published in American journal of human genetics (01.04.2001)
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Mental Retardation and Abnormal Skeletal Development (Dyggve-Melchior-Clausen Dysplasia) Due to Mutations in a Novel, Evolutionarily Conserved Gene
Cohn, Daniel H., Ehtesham, Nadia, Krakow, Deborah, Unger, Sheila, Shanske, Alan, Reinker, Kent, Powell, Berkley R., Rimoin, David L.
Published in American journal of human genetics (01.02.2003)
Published in American journal of human genetics (01.02.2003)
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Journal Article
Evidence That Smith-McCort Dysplasia and Dyggve-Melchior-Clausen Dysplasia Are Allelic Disorders That Result from Mutations in a Gene on Chromosome 18q12
Ehtesham, Nadia, Cantor, Rita M., King, Lily M., Reinker, Kent, Powell, Berkley R., Shanske, Alan, Unger, Sheila, Rimoin, David L., Cohn, Daniel H.
Published in American journal of human genetics (01.10.2002)
Published in American journal of human genetics (01.10.2002)
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Probable identity-by-descent for a mutation in the Dyggve-Melchior-Clausen/Smith-McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain
Pogue, Robert, Ehtesham, Nadia, Repetto, Gabriela M., Carrero-Valenzuela, Roque, de Casella, Cristina Bazán, de Pons, Silvia Pintos, Martínez-Frías, Maria Luisa, Heuertz, Solange, Cormier-Daire, Valerie, Cohn, Daniel H.
Published in American journal of medical genetics. Part A (15.09.2005)
Published in American journal of medical genetics. Part A (15.09.2005)
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