S G Kaler

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. pmc Genomic organization of ATOX1, a human copper chaperone
    Po Ching Liu
    Unit on Pediatric Genetics, Laboratory of Clinical Genomics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA
    BMC Genet 4:4. 2003
  2. ncbi request reprint Diagnosis and therapy of Menkes syndrome, a genetic form of copper deficiency
    S G Kaler
    National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 1424, USA
    Am J Clin Nutr 67:1029S-1034S. 1998
  3. ncbi request reprint Early copper therapy in classic Menkes disease patients with a novel splicing mutation
    S G Kaler
    Section on Human Biochemical Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 1424, USA
    Ann Neurol 38:921-8. 1995
  4. ncbi request reprint Successful early copper therapy in Menkes disease associated with a mutant transcript containing a small In-frame deletion
    S G Kaler
    Section on Human Biochemical Genetics, NICHD, Bethesda, Maryland, 20892, USA
    Biochem Mol Med 57:37-46. 1996
  5. pmc Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease
    V Desai
    Unit on Human Copper Metabolism, Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 1832, USA
    Clin Genet 79:176-82. 2011
  6. ncbi request reprint Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus
    S G Kaler
    Section on Human Biochemical Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892
    Nat Genet 8:195-202. 1994
  7. ncbi request reprint Non-random maternal X-chromosome inactivation associated with PHACES
    J H Levin
    Unit on Pediatric Genetics, Laboratory of Clinical Genomics, National Institute of Child Health and Human Development, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA
    Clin Genet 72:345-50. 2007

Collaborators

Detail Information

Publications7

  1. pmc Genomic organization of ATOX1, a human copper chaperone
    Po Ching Liu
    Unit on Pediatric Genetics, Laboratory of Clinical Genomics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA
    BMC Genet 4:4. 2003
    ..The cDNA sequence for ATOX1 is known, and the genomic organization has not been reported...
  2. ncbi request reprint Diagnosis and therapy of Menkes syndrome, a genetic form of copper deficiency
    S G Kaler
    National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 1424, USA
    Am J Clin Nutr 67:1029S-1034S. 1998
    ..Consideration of additional therapeutic strategies seems necessary, therefore, for most patients and families facing this troublesome form of copper deficiency...
  3. ncbi request reprint Early copper therapy in classic Menkes disease patients with a novel splicing mutation
    S G Kaler
    Section on Human Biochemical Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 1424, USA
    Ann Neurol 38:921-8. 1995
    ....
  4. ncbi request reprint Successful early copper therapy in Menkes disease associated with a mutant transcript containing a small In-frame deletion
    S G Kaler
    Section on Human Biochemical Genetics, NICHD, Bethesda, Maryland, 20892, USA
    Biochem Mol Med 57:37-46. 1996
    ....
  5. pmc Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease
    V Desai
    Unit on Human Copper Metabolism, Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 1832, USA
    Clin Genet 79:176-82. 2011
    ....
  6. ncbi request reprint Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus
    S G Kaler
    Section on Human Biochemical Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892
    Nat Genet 8:195-202. 1994
    ..In both mutations, maintenance of some normal splicing is demonstrable by RT-PCR, cDNA sequencing and ribonuclease protection...
  7. ncbi request reprint Non-random maternal X-chromosome inactivation associated with PHACES
    J H Levin
    Unit on Pediatric Genetics, Laboratory of Clinical Genomics, National Institute of Child Health and Human Development, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA
    Clin Genet 72:345-50. 2007
    ..These findings are consistent with favorably skewed X-inactivation producing a normal maternal phenotype, a phenomenon documented in X-linked dominant Rett syndrome...