Professor, Pediatrics, University Kansas School of Medicine

Pediatrics

Dr. Majed J. Dasouki is an expert in the field of Pediatrics. Majed Dasouki is also a published doctor. He has 54 paper published. The most recent paper is: Lack of chromosome 15q11-q13 region involvement in a family with Cowden disease/Bannayan-Zonana syndrome.

Publications

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• Pompe Disease: Literature Review and Case Series.
• Flow cytometry biomarkers distinguish DOCK8 deficiency from severe atopic dermatitis.
• Confirmation and further delineation of the 3q26.33-3q27.2 microdeletion syndrome.
• Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for Genetic services.
• Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia.
• Recurrent agnathia-otocephaly caused by DNA replication slippage in PRRX1.
• The 3q29 microdeletion syndrome: Report of three new unrelated patients and in silico "RNA binding" analysis of the 3q29 region.
• A 9-month-old baby with subdural hematomas, retinal hemorrhages, and developmental delay.
• Clinical report of a 17q12 microdeletion with additionally unreported clinical features.
• Congenital Arthrogryposis: An Extension of the 15q11.2 BP1-BP2 Microdeletion Syndrome?
• 14q32 deletion syndrome: a clinical report.
• Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: Implications for pathogenesis and potential dete...
• Coenzyme Q10 levels in Prader-Willi syndrome: comparison with obese and non-obese subjects.
• Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene.
• Fryns syndrome: report of eight new cases.
• Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-k...
• Gene symbol: ARX. Disease: Mental retardation.
• Gene symbol: MEN1. Disease: Multiple endocrine neoplasia 1.
• Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy.
• Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency.
• Novel human pathological mutations. Gene symbol: DMD. Disease: Muscular Dystrophy, Duchenne.
• DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy.
• Gene symbol: DMD. Disease: Muscular dystrophy, Duchenne.
• Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa.
• Expanded newborn screening of inherited metabolic disorders by tandem mass spectrometry: clinical and laboratory aspects.
• A 9-year-old male with a duplication of chromosome 3p25.3p26.2: clinical report and gene expression analysis.
• Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities.
• Translocation (1;22) in a child with bilateral oblique facial clefts.
• Occurrence of holoprosencephaly in chromosome 13 disorders cannot be explained by duplication/deficiency of a single locus.
• Trisomy 18 and hepatic neoplasia.
• Cell-specific ribosomal DNA spacer variability in human urothelial carcinoma cultures.
• Clarification of chromosomal abnormalities associated with sexual ambiguity by studies with Y-chromosomal DNA sequences.
• 3-Hydroxy-3-methylglutaric aciduria: response to carnitine therapy and fat and leucine restriction.
• Use of a probe for the putative sex determining gene, zinc finger Y, in the study of patients with ambiguous genitalia and XY gonadal dysgenesis.
• DiGeorge anomaly and chromosome 10p deletions: one or two loci?
• Assignment of the human gene (GLCLR) that encodes the regulatory subunit of gamma-glutamylcysteine synthetase to chromosome 1p21.
• Human selenoprotein P gene maps to 5q31.
• Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome.
• Autosomal recessive ataxia, slow eye movements and psychomotor retardation.
• Assignment of the gene (GLCLC) that encodes the heavy subunit of gamma-glutamylcysteine synthetase to human chromosome 6.
• PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.
• Further delineation of the dup(3q) syndrome.
• Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency.
• Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.
• Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis a...
• Cerebral atrophy, macrosomia, and cutaneous telangiectasia in GM1 gangliosidosis.
• Multiple inositol polyphosphate phosphatase: evolution as a distinct group within the histidine phosphatase family and chromosomal localization of the human and mouse ...
• Lack of chromosome 15q11-q13 region involvement in a family with Cowden disease/Bannayan-Zonana syndrome.
• Heterogeneity in hereditary pancreatitis.
• Physical and linkage mapping of human carbamyl phosphate synthetase I (CPS1) and reassignment from 2p to 2q35.
• Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.
• Five new subjects with ring chromosome 22.
• Podocyte proteins in Galloway-Mowat syndrome.

Schools

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• University Of Jordan Faculty Of Medicine

• University Of Minnesota Medical School

• University Of Oklahoma College Of Med

• University Of Michigan Hospitals

• University Of Missouri School Of Med

Conditions Treated

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• Genetic Diseases

Doctors Specialties

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• Clinical Biochemical Genetics
• Clinical Cytogenetics
• Clinical Genetics
• Pediatrics

Accepted Insurances

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Education

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• University of Minnesota at Fairview
• University of Oklahoma Health Sciences Center
• University of Michigan Hospitals and Health Centers
• University of Jordan Faculty of Medicine

Hospital

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• The University of Kansas Hospital

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