Physician

Medical Genetics

Dr. Elizabeth K. Schorry practices Medical Genetics. She graduated from University of Michigan Medical School. Dr. Elizabeth K. Schorry is also a published MD. She has 46 paper published. The most recent paper is: Partial trisomy 1q with growth hormone deficiency and normal intelligence. She accepts Medicare.

Publications

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• High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phen...
• A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia.
• Sirolimus for progressive neurofibromatosis type 1-associated plexiform neurofibromas: a Neurofibromatosis Clinical Trials Consortium phase II study.
• Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5.
• CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies.
• Patient-reported outcomes in neurofibromatosis and schwannomatosis clinical trials.
• Does the Presence of Dystrophic Features in Neurofibromatosis Type 1 Patients With Spinal Deformities Increase the Risk of Surgery?
• Approaches to Treating NF1 Tibial Pseudarthrosis: Consensus From the Children's Tumor Foundation NF1 Bone Abnormalities Consortium.
• Fractures in children with neurofibromatosis type 1 from two NF clinics.
• Pediatric Plexiform Neurofibromas: Impact on Morbidity and Mortality in Neurofibromatosis Type 1.
• Lethal presentation of neurofibromatosis and Noonan syndrome.
• Variable expression of neurofibromatosis 1 in monozygotic twins.
• Back to the future: proceedings from the 2010 NF Conference.
• Gene expression analysis identifies potential biomarkers of neurofibromatosis type 1 including adrenomedullin.
• Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options.
• Parental distress, family functioning, and social support in families with and without a child with neurofibromatosis 1.
• Social, emotional, and behavioral functioning of children with NF1.
• The use of anterolateral bowing of the lower leg in the diagnostic criteria for neurofibromatosis type 1.
• A new case of de novo 11q duplication in a patient with normal development and intelligence and review of the literature.
• The immature spine in type-1 neurofibromatosis.
• Neurofibromatosis update.
• Epidemiology of hemimegalencephaly: a case series and review.
• A girl with partial trisomy 12q24.31 inherited from her father and a possible novel syndrome transmitted from her mother.
• Valproate embryopathy: clinical and cognitive profile in 5 siblings.
• Blood expression profiles for tuberous sclerosis complex 2, neurofibromatosis type 1, and Down's syndrome.
• Long-term survival in a patient with del(18)(q12.2q21.1).
• Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.
• Tibial geometry in individuals with neurofibromatosis type 1 without anterolateral bowing of the lower leg using peripheral quantitative computed tomography.
• Genotype-phenotype correlations in Rubinstein-Taybi syndrome.
• Perception of disease severity in adolescents diagnosed with neurofibromatosis type 1.
• Human blood genomics: distinct profiles for gender, age and neurofibromatosis type 1.
• Gene symbol: COL1A2. Disease: osteogenesis imperfecta type II.
• Skeletal demineralization and fractures caused by fetal magnesium toxicity.
• Summary of patient data from a multidisciplinary neurofibromatosis clinic.
• A refined genetic map of the region of chromosome 17 surrounding the von Recklinghausen neurofibromatosis (NF1) gene.
• Ullrich-Turner syndrome and neurofibromatosis-1.
• Familial partial duplication (1)(p21p31).
• Increased need for medical interventions in infants with velocardiofacial (deletion 22q11) syndrome.
• Neurofibromatosis in children: the role of the orthopaedist.
• Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1.
• Social and emotional problems in children with neurofibromatosis type 1: evidence and proposed interventions.
• Partial trisomy 1q with growth hormone deficiency and normal intelligence.
• Thoracic tumors in children with neurofibromatosis-1.
• New insights into the phenotypes of 6q deletions.
• Insulin binding and insulin action in fibroblasts from patients with maturity-onset diabetes of the young.

Schools

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• University Of Michigan Medical School

• Childrens Hospital Med Center

Doctors Specialties

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• Clinical Genetics
• Pediatrics
• Medical Genetics

Accepted Insurances

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Education

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• Cincinnati Children's Hospital Medical Center
• University of Michigan Medical School

Hospital

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• Cincinnati Children's Hospital Medical Center

Drug Facts

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NPI NUMBER		1861423204
NPPES Provider LastName		SCHORRY
NPPES Provider FirstName		ELIZABETH
NPPES Provider ZIPCode		452293039
NPPES Provider State		OH
Specialty Description		Pediatric Medicine
Total Claim Count		36.0
Distinct Opioid Count		0.0
Opioid Claim Count		0.0
Percent Opioid Claims		0.0

Helpful Reviews

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Medicare Facts

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National Provider Identifier [NPI]	1861423204
Last Name Of The Provider	SCHORRY
First Name Of The Provider	ELIZABETH
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