Physician

Pediatrics

Dr. Stuart K. Shapira, MD

Dr. Stuart K. Shapira is an expert in the field of Pediatrics. Stuart Shapira is a published doctor. He published 38 publications, including: 'DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome.'

Publications

Single newborn screen or routine second screening for primary congenital hypothyroidism.
Expanding diagnostic testing beyond cytogenetics: Implications for birth defects research and surveillance.
Birth Prevalence Rates of Newborn Screening Disorders in Relation to Screening Practices in the United States.
Evaluation of immunization rates and safety among children with inborn errors of metabolism.
Use of special education services among children with and without congenital gastrointestinal anomalies.
Future research directions to identify causes of the increasing incidence rate of congenital hypothyroidism in the United States.
Prevalence of developmental disabilities and receipt of special education services among children with an inborn error of metabolism.
Long-term speech and language developmental issues among children with Duarte galactosemia.
Genetic risks to the mother and the infant: assessment, counseling, and management.
Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up.
Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome.
Familial complex chromosomal rearrangement resulting in a recombinant chromosome.
Effect of epidural analgesia on duration and outcome of induced labor.
Unknown syndrome in sibs: pili torti, growth delay, developmental delay, and mild neurological abnormalities.
A urea cycle defect presenting as acute cerebellar ataxia in a 3-year-old girl.
Ketoacidotic crisis as a presentation of mild ("benign") methylmalonic acidemia.
DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression.
An update on chromosome deletion and microdeletion syndromes.
Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3.
A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO).
Arginase deficiency presenting as cerebral palsy.
Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria.
Inherited duplication Xq27-qter at Xp22.3 in severely affected males: molecular cytogenetic evaluation and clinical description in three unrelated families.
DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome.
Monosomy 1p36.
Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease.
De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations.
Loss of the potassium channel beta-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome.
Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two patients with Seckel syndrome.
Constitutional mosaicism for a chromosome 9 inversion resulting in recombinant aneusomy in an offspring.
Submicroscopic deletions at 22q11.2: variability of the clinical picture and delineation of a commonly deleted region.
Molecular and clinical characterization of a patient with duplication of 1p36.3 and metopic synostosis.
Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions.
Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome.
Association of paternal age and risk for major congenital anomalies from the National Birth Defects Prevention Study, 1997 to 2004.
Letter to the editor: Ventricular septal defects and the National Birth Defects Prevention Study.
Maternal vasoactive exposures, amniotic bands, and terminal transverse limb defects.

Schools

U Of Chgo Div Of Bio Sci Pritzker Sch Of Med

Doctors Specialties

Clinical Biochemical Genetics
Clinical Genetics
Pediatrics

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