R Morell

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. ncbi request reprint Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA)
    R Morell
    Department of Zoology, Michigan State University, East Lansing, USA
    Hum Mol Genet 6:659-64. 1997
  2. ncbi request reprint Effects of Pax3 modifier genes on craniofacial morphology, pigmentation, and viability: a murine model of Waardenburg syndrome variation
    J H Asher
    Department of Zoology, Michigan State University, East Lansing, Michigan, 48824, USA
    Genomics 34:285-98. 1996
  3. ncbi request reprint Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome
    J H Asher
    Department of Zoology, Michigan State University, East Lansing 48824, USA
    Hum Mutat 7:30-5. 1996
  4. ncbi request reprint A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family
    R Morell
    Department of Zoology, Michigan State University, East Lansing 48825 1115
    Hum Mol Genet 1:243-7. 1992
  5. ncbi request reprint Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans
    O Vahava
    Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
    Science 279:1950-4. 1998
  6. pmc Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2
    Y Liang
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, RockvilleMaryland 20850, USA
    Am J Hum Genet 62:904-15. 1998

Collaborators

  • R A Spritz
  • E Wilcox
  • A K Lalwani
  • K B Avraham
  • T B Friedman
  • J H Asher
  • O Vahava
  • Y Liang
  • X C Li
  • S A Camper
  • D F Dolan
  • J T Hinnant
  • E D Lynch
  • S Winata
  • S Weiss
  • S Moeljopawiro
  • M K Lee
  • T D Barber
  • A Blumenfeld
  • C C Morton
  • L E Carter
  • F J Probst
  • D Deshmukh
  • A B Skvorak
  • I N Arhya
  • M E Kagan
  • M C King
  • A Wang
  • N Ahituv
  • M Frydman
  • C Negrini
  • P K Jain
  • J R Lupski
  • J E Morrow
  • K S Chen
  • R W Harrison
  • M L Carey
  • A Sommer

Detail Information

Publications6

  1. ncbi request reprint Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA)
    R Morell
    Department of Zoology, Michigan State University, East Lansing, USA
    Hum Mol Genet 6:659-64. 1997
    ....
  2. ncbi request reprint Effects of Pax3 modifier genes on craniofacial morphology, pigmentation, and viability: a murine model of Waardenburg syndrome variation
    J H Asher
    Department of Zoology, Michigan State University, East Lansing, Michigan, 48824, USA
    Genomics 34:285-98. 1996
    ..These BC1 mice provide an opportunity to identify genes that interact with and modify the expression of Pax3 and serve as a model to identify the genes that modify the expression of human PAX3 mutations...
  3. ncbi request reprint Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome
    J H Asher
    Department of Zoology, Michigan State University, East Lansing 48824, USA
    Hum Mutat 7:30-5. 1996
    ....
  4. ncbi request reprint A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family
    R Morell
    Department of Zoology, Michigan State University, East Lansing 48825 1115
    Hum Mol Genet 1:243-7. 1992
    ..We propose that the WS1 phenotype in this family is due to loss of function of HuP2 and discuss two mechanisms for the dominant effect of this mutation...
  5. ncbi request reprint Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans
    O Vahava
    Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
    Science 279:1950-4. 1998
    ..A truncated protein presumably impairs high-affinity binding of this transcription factor in a dominant negative fashion, leading to progressive hearing loss...
  6. pmc Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2
    Y Liang
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, RockvilleMaryland 20850, USA
    Am J Hum Genet 62:904-15. 1998
    ..Genetic mapping has refined sh2 to a 0.6-cM interval of chromosome 11. Three homologous genes map within the sh2 and DFNB3 intervals, suggesting that sh2 is the homologue of DFNB3...