E A Lindsay

Summary

Affiliation: Baylor College of Medicine
Country: USA

Publications

  1. ncbi Chromosomal microdeletions: dissecting del22q11 syndrome
    E A Lindsay
    Division of Cardiology, Department of Pediatrics, Baylor College of Medicine, 1 Baylor Plaza, Houston, Texas 77030, USA
    Nat Rev Genet 2:858-68. 2001
  2. ncbi Functional analysis of Gscl in the pathogenesis of the DiGeorge and velocardiofacial syndromes
    M Wakamiya
    Department of Molecular Genetics, University of Texas M D Anderson Cancer Center, 1515 Holcombe Boulevard, Houston, TX 77030, USA
    Hum Mol Genet 7:1835-40. 1998
  3. ncbi A transcription map in the CATCH22 critical region: identification, mapping, and ordering of four novel transcripts expressed in heart
    E A Lindsay
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genomics 32:104-12. 1996
  4. ncbi Congenital heart disease in mice deficient for the DiGeorge syndrome region
    E A Lindsay
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nature 401:379-83. 1999
  5. ncbi 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 gene
    E A Lindsay
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Hum Mol Genet 7:629-35. 1998
  6. ncbi Mice deleted for the DiGeorge/velocardiofacial syndrome region show abnormal sensorimotor gating and learning and memory impairments
    R Paylor
    Department of Molecular and Human Genetics, Division of Neuroscience, Baylor College of Medicine, One Baylor Plaza, 325D, Houston, TX 77030, USA
    Hum Mol Genet 10:2645-50. 2001
  7. ncbi Recovery from arterial growth delay reduces penetrance of cardiovascular defects in mice deleted for the DiGeorge syndrome region
    E A Lindsay
    Department of Pediatrics Cardiology, Baylor College of Medicine, 1 Baylor Plaza, Houston, TX 77030, USA
    Hum Mol Genet 10:997-1002. 2001
  8. ncbi Genetic dissection of the DiGeorge syndrome phenotype
    F Vitelli
    Department of Pediatrics (Cardiology, Baylor College of Medicine, Houston, Texas 77030, USA
    Cold Spring Harb Symp Quant Biol 67:327-32. 2002
  9. ncbi Comparative mapping of the DiGeorge syndrome region in mouse shows inconsistent gene order and differential degree of gene conservation
    A Botta
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Mamm Genome 8:890-5. 1997
  10. ncbi Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice
    E A Lindsay
    Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nature 410:97-101. 2001

Collaborators

Detail Information

Publications16

  1. ncbi Chromosomal microdeletions: dissecting del22q11 syndrome
    E A Lindsay
    Division of Cardiology, Department of Pediatrics, Baylor College of Medicine, 1 Baylor Plaza, Houston, Texas 77030, USA
    Nat Rev Genet 2:858-68. 2001
    ..These mouse models have provided new insights into the pathogenesis of del22q11 syndrome and have established strategies for research into chromosomal-deletion and -duplication syndromes...
  2. ncbi Functional analysis of Gscl in the pathogenesis of the DiGeorge and velocardiofacial syndromes
    M Wakamiya
    Department of Molecular Genetics, University of Texas M D Anderson Cancer Center, 1515 Holcombe Boulevard, Houston, TX 77030, USA
    Hum Mol Genet 7:1835-40. 1998
    ..These studies represent the first functional analysis of a DGS/VCFS candidate gene in vivo. These Gscl null mice will be an important genetic resource for crosses with other mouse models of the DGS/VCFS...
  3. ncbi A transcription map in the CATCH22 critical region: identification, mapping, and ordering of four novel transcripts expressed in heart
    E A Lindsay
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genomics 32:104-12. 1996
    ..We show that the multimethod approach to search for expressed sequences is effective and indeed necessary for a comprehensive search and provides molecular tools for further characterization of the potential genes identified...
  4. ncbi Congenital heart disease in mice deficient for the DiGeorge syndrome region
    E A Lindsay
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nature 401:379-83. 1999
    ..These mutants represent a mouse model of a human deletion syndrome generated by chromosome engineering...
  5. ncbi 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 gene
    E A Lindsay
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Hum Mol Genet 7:629-35. 1998
    ..This finding suggests that different genes in the deleted region may be functionally related and might explain the occurrence of the characteristic phenotype in patients with non-overlapping genetic lesions...
  6. ncbi Mice deleted for the DiGeorge/velocardiofacial syndrome region show abnormal sensorimotor gating and learning and memory impairments
    R Paylor
    Department of Molecular and Human Genetics, Division of Neuroscience, Baylor College of Medicine, One Baylor Plaza, 325D, Houston, TX 77030, USA
    Hum Mol Genet 10:2645-50. 2001
    ..These findings not only open the way to pharmacological analyses that may lead to improved treatments, but also to the identification of gene/s that modulate these specific behaviors in humans...
  7. ncbi Recovery from arterial growth delay reduces penetrance of cardiovascular defects in mice deleted for the DiGeorge syndrome region
    E A Lindsay
    Department of Pediatrics Cardiology, Baylor College of Medicine, 1 Baylor Plaza, Houston, TX 77030, USA
    Hum Mol Genet 10:997-1002. 2001
    ..Our data indicate that Df1/+ embryos are able to overcome a localized arterial growth impairment and thereby reduce the penetrance of birth defects...
  8. ncbi Genetic dissection of the DiGeorge syndrome phenotype
    F Vitelli
    Department of Pediatrics (Cardiology, Baylor College of Medicine, Houston, Texas 77030, USA
    Cold Spring Harb Symp Quant Biol 67:327-32. 2002
  9. ncbi Comparative mapping of the DiGeorge syndrome region in mouse shows inconsistent gene order and differential degree of gene conservation
    A Botta
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Mamm Genome 8:890-5. 1997
    ..Our data provide a framework for the development of a mouse model for the 22q11 deletion with chromosome engineering technologies...
  10. ncbi Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice
    E A Lindsay
    Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nature 410:97-101. 2001
    ....
  11. ncbi Genetic factors are major determinants of phenotypic variability in a mouse model of the DiGeorge/del22q11 syndromes
    I Taddei
    Department of Pediatrics Cardiology, Baylor College of Medicine, 1 Baylor Plaza, Houston, TX 77030, USA
    Proc Natl Acad Sci U S A 98:11428-31. 2001
    ..These data provide a framework for our understanding of phenotypic variability in patients with del22q11 syndrome and the tools for its genetic dissection...
  12. ncbi Diagnosis of X-linked adrenal hypoplasia congenita by mutation analysis of the DAX1 gene
    W Guo
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex, USA
    JAMA 274:324-30. 1995
    ..Specific diagnosis of the cause of adrenal insufficiency in these boys permits anticipatory management of the HH and prenatal counseling for parents of the affected child and other members of their families...
  13. ncbi A mouse gene (Dgcr6) related to the Drosophila gonadal gene is expressed in early embryogenesis and is the homolog of a human gene deleted in DiGeorge syndrome
    E A Lindsay
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Cytogenet Cell Genet 79:243-7. 1997
    ..On adult tissues high expression was detected in testis. The function of Dgcr6 is to be determined, but its developmental expression suggests that this gene may play a role in the developmental defects associated with 22q11.2 deletions...
  14. ncbi Cloning and comparative mapping of a gene from the commonly deleted region of DiGeorge and Velocardiofacial syndromes conserved in C. elegans
    P Rizzu
    Department of Molecular and Human Genetics, Baylor College of Medicine, 1 Baylor Plaza, T936, Houston, Texas 77030, USA
    Mamm Genome 7:639-43. 1996
    ..Mutation analysis was performed in 16 patients without deletion, but no mutation has been found. The cDNA sequence is conserved in mouse and is localized on MMU16B1-B3, known to contain a syntenic group in common with HSA 22q11.2...
  15. ncbi Deletion of chromosome 22q11 and pseudohypoparathyroidism
    W J Craigen
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet 72:63-5. 1997
    ..This patient emphasizes the importance of determining the pathogenesis of the hypocalcemia in cases of DiGeorge anomaly...
  16. ncbi Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions
    E A Lindsay
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Med Genet 57:514-22. 1995
    ..In one patient we observed a smaller interstitial deletion than that defined by the three loci. The phenotype of this patient was not different from that observed in patients with larger deletions...