Luis F Escobar

Summary

Affiliation: St. Vincent Hospitals and Health Services
Country: USA

Publications

  1. doi request reprint Neonatal presentation of lethal neuromuscular glycogen storage disease type IV
    L F Escobar
    Medical Genetics and Neurodevelopmental Pediatric Center Peyton Manning Children Hospital, Indianapolis, IN 46260, USA
    J Perinatol 32:810-3. 2012
  2. pmc Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication
    Blake C Ballif
    Signature Genomic Laboratories, LLC, Spokane, WA, USA
    Mol Cytogenet 1:8. 2008
  3. ncbi request reprint Urorectal septum malformation sequence: prenatal progression, clinical report, and embryology review
    Luis F Escobar
    Medical Genetics and Neurodevelopment Center, St Vincent Children s Hospital, St Vincent Health Services of Indianapolis, IN 46260, USA
    Am J Med Genet A 143:2722-6. 2007
  4. doi request reprint Significant phenotypic variability of Muenke syndrome in identical twins
    Luis F Escobar
    Medical Genetics and Neurodevelopmental Center, St Vincent Children s Hospital, Indianapolis, Indiana, USA
    Am J Med Genet A 149:1273-6. 2009

Collaborators

  • Blake C Ballif
  • RAYMOND TERVO
  • Joseph H Hersh
  • Bassem A Bejjani
  • Jeffrey E Ming
  • Suneeta Madan-Khetarpal
  • Elaine H Zackai
  • Karen R Schmidt
  • Lisa G Shaffer
  • Gordon C Gowans
  • Marie McDonald
  • Aaron Theisen
  • Lindsey Campbell
  • Christopher A Friedrich
  • Justine Coppinger

Detail Information

Publications4

  1. doi request reprint Neonatal presentation of lethal neuromuscular glycogen storage disease type IV
    L F Escobar
    Medical Genetics and Neurodevelopmental Pediatric Center Peyton Manning Children Hospital, Indianapolis, IN 46260, USA
    J Perinatol 32:810-3. 2012
    ..We review recent information on early presentation of GSD IV with particular interest in the presentation of the neonatal lethal neuromuscular form of this rare disorder...
  2. pmc Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication
    Blake C Ballif
    Signature Genomic Laboratories, LLC, Spokane, WA, USA
    Mol Cytogenet 1:8. 2008
    ..6 Mb common-sized deletion. Given the molecular mechanism causing the deletion, the reciprocal duplication is anticipated to occur with equal frequency, although only one family with this duplication has been reported...
  3. ncbi request reprint Urorectal septum malformation sequence: prenatal progression, clinical report, and embryology review
    Luis F Escobar
    Medical Genetics and Neurodevelopment Center, St Vincent Children s Hospital, St Vincent Health Services of Indianapolis, IN 46260, USA
    Am J Med Genet A 143:2722-6. 2007
    ..Postnatal evaluation confirmed a URSMS diagnosis; the newborn had ambiguous genitalia, hypoplastic kidneys, absent uterus, imperforate anus, smooth perineum, and overall underdeveloped urogenital structures...
  4. doi request reprint Significant phenotypic variability of Muenke syndrome in identical twins
    Luis F Escobar
    Medical Genetics and Neurodevelopmental Center, St Vincent Children s Hospital, Indianapolis, Indiana, USA
    Am J Med Genet A 149:1273-6. 2009
    ..These patients illustrate the variable expressivity of MS in association with an identical gene mutation...