Nadia Ehtesham
Last active: 6/26/2013

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Nadia Ehtesham

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Publications

The following timeline graph is generated from all co-authored publications.

Featured publications are shown below:

  1. 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 R, Ehtesham N, Repetto GM, Carrero-Valenzuela R, de Casella CB, de Pons SP, Martínez-Frías ML, Heuertz S, Cormier-Daire V, Cohn DH (2005) Am J Med Genet A 138(1): 75-8
    › Primary publication · 16097008 (PubMed)
  2. A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14. Steiner C, Ehtesham N, Taylor KD, Sebald E, Cantor R, King LM, Guo X, Hang T, Hu MS, Cui JR, Friedman B, Norato D, Allanson J, Honeywell C, Mettler G, Field F, Lachman R, Cohn DH, Krakow D (2004) J Med Genet 41(4): 266-9
    › Primary publication · 15060099 (PubMed) · PMC1735744 (PubMed Central)
  3. Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene. Cohn DH, Ehtesham N, Krakow D, Unger S, Shanske A, Reinker K, Powell BR, Rimoin DL (2003) Am J Hum Genet 72(2): 419-28
    › Primary publication · 12491225 (PubMed) · PMC420018 (PubMed Central)
  4. Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12. Ehtesham N, Cantor RM, King LM, Reinker K, Powell BR, Shanske A, Unger S, Rimoin DL, Cohn DH (2002) Am J Hum Genet 71(4): 947-51
    › Primary publication · 12161821 (PubMed) · PMC378548 (PubMed Central)
  5. 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 M, Goobie S, Morrison J, Ellis L, Ehtesham N, Richards N, Boocock G, Durie PR, Rommens JM (2002) Eur J Hum Genet 10(4): 250-8
    › Primary publication · 12032733 (PubMed)
  6. Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7. Goobie S, Popovic M, Morrison J, Ellis L, Ginzberg H, Boocock GR, Ehtesham N, Bétard C, Brewer CG, Roslin NM, Hudson TJ, Morgan K, Fujiwara TM, Durie PR, Rommens JM (2001) Am J Hum Genet 68(4): 1048-54
    › Primary publication · 11254457 (PubMed) · PMC1275624 (PubMed Central)

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    615-322-8727 (p)
    615-343-0749 (f)
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    Keywords & MeSH Terms

    MeSH terms are retrieved from PubMed records. Learn more.

    Key: MeSH Term Keyword

    Abnormalities, Multiple Alleles Argentina Base Sequence Bone Marrow Diseases Child Chromosomes, Human, Pair 7 Chromosomes, Human, Pair 18 Consanguinity Developmental Disabilities Exocrine Pancreatic Insufficiency Gene Frequency Genes, Recessive Genetic Linkage Growth Disorders Humans Intellectual Disability Linkage Disequilibrium Magnetic Resonance Imaging Models, Genetic Molecular Sequence Data Musculoskeletal Abnormalities Mutation Osteochondrodysplasias Phenotype Phylogeny Polymorphism, Single Nucleotide Radiography Software Spine