Majed Dasouki

Summary

Affiliation: University of Kansas Medical Center
Country: USA

Publications

  1. doi request reprint Recurrent agnathia-otocephaly caused by DNA replication slippage in PRRX1
    Majed Dasouki
    Department of Pediatrics, University of Kansas Medical Center, Kansas City, KS 66160, USA
    Am J Med Genet A 161:803-8. 2013
  2. ncbi request reprint Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa
    Majed Dasouki
    Division of Genetics, Endocrinology and Metabolism, Department of Pediatrics, The University of Kansas Medical Center, Kansas City, Kansas 66160, USA
    Am J Med Genet A 143:2635-41. 2007
  3. ncbi request reprint Gene symbol: DMD. Disease: Muscular dystrophy, Duchenne
    Majed Dasouki
    Kansas Medical Center, Pediatrics, 3901 Rainbow Blvd, MS 4004, 66160 Kansas City, KS, USA
    Hum Genet 124:321. 2008
  4. pmc The 3q29 microdeletion syndrome: report of three new unrelated patients and in silico "RNA binding" analysis of the 3q29 region
    Majed J Dasouki
    Department of Pediatrics, University of Kansas Medical Center, Kansas City, USA
    Am J Med Genet A 155:1654-60. 2011
  5. doi request reprint Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening
    Majed Dasouki
    Department of Pediatrics, University of Kansas Medical Center, Kansas City, USA
    Clin Immunol 141:128-32. 2011
  6. ncbi request reprint Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene
    Tarak Srivastava
    Section of Pediatric Nephrology, Children s Mercy Hospital, and University of Missouri Kansas City School of Medicine, Kansas City, Missouri 64108, USA
    Am J Med Genet 108:219-22. 2002
  7. ncbi request reprint Fryns syndrome: report of eight new cases
    Anne M Slavotinek
    Genet Med 7:74-6. 2005
  8. ncbi request reprint Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities
    Shoko Horita
    Department of Internal Medicine, Faculty of Medicine, Tokyo University, 7 3 1 Hongo, Bunkyo ku, Tokyo 113 0033, Japan
    J Am Soc Nephrol 16:2270-8. 2005

Collaborators

Detail Information

Publications8

  1. doi request reprint Recurrent agnathia-otocephaly caused by DNA replication slippage in PRRX1
    Majed Dasouki
    Department of Pediatrics, University of Kansas Medical Center, Kansas City, KS 66160, USA
    Am J Med Genet A 161:803-8. 2013
    ..Severe retrognathia (bilateral Pruzansky III) and agnathia-otocephaly represent a spectrum of craniofacial malformations in this family...
  2. ncbi request reprint Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa
    Majed Dasouki
    Division of Genetics, Endocrinology and Metabolism, Department of Pediatrics, The University of Kansas Medical Center, Kansas City, Kansas 66160, USA
    Am J Med Genet A 143:2635-41. 2007
    ..Our studies provide evidence that deficiency in fibulin-4 leads to a perinatal lethal condition associated with elastic tissue abnormalities...
  3. ncbi request reprint Gene symbol: DMD. Disease: Muscular dystrophy, Duchenne
    Majed Dasouki
    Kansas Medical Center, Pediatrics, 3901 Rainbow Blvd, MS 4004, 66160 Kansas City, KS, USA
    Hum Genet 124:321. 2008
  4. pmc The 3q29 microdeletion syndrome: report of three new unrelated patients and in silico "RNA binding" analysis of the 3q29 region
    Majed J Dasouki
    Department of Pediatrics, University of Kansas Medical Center, Kansas City, USA
    Am J Med Genet A 155:1654-60. 2011
    ..While recessive mutations in RNF168 cause RIDDLE syndrome, an immune deficiency and radiosensitivity disorder, the potential impact of heterozygous deletion of RNF168 on patients with the 3q29 deletion syndrome is still unknown...
  5. doi request reprint Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening
    Majed Dasouki
    Department of Pediatrics, University of Kansas Medical Center, Kansas City, USA
    Clin Immunol 141:128-32. 2011
    ..These findings suggest that AR-HIES may be detected by TREC newborn screening, and this diagnosis should be considered in the evaluation of newborns with abnormal TRECs who do not have typical SCID...
  6. ncbi request reprint Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene
    Tarak Srivastava
    Section of Pediatric Nephrology, Children s Mercy Hospital, and University of Missouri Kansas City School of Medicine, Kansas City, Missouri 64108, USA
    Am J Med Genet 108:219-22. 2002
    ..Atypical HPRT mutations should also be considered in cases of unusual renal failure, because correct diagnosis can allow appropriate treatment, as well as informed genetic counseling...
  7. ncbi request reprint Fryns syndrome: report of eight new cases
    Anne M Slavotinek
    Genet Med 7:74-6. 2005
  8. ncbi request reprint Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities
    Shoko Horita
    Department of Internal Medicine, Faculty of Medicine, Tokyo University, 7 3 1 Hongo, Bunkyo ku, Tokyo 113 0033, Japan
    J Am Soc Nephrol 16:2270-8. 2005
    ..These results, together with the presence of nonfunctional mutants (Q29X and DeltaA) in other patients, suggest that at least approximately 50% reduction of NBC1 activity would be required to cause severe pRTA...