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JESS THOENE, MD
MD
Clinical Biochemical Genetics Physician
NPI: 1457439994Individual
Specialties, Licenses & Credentials
Pediatrics Physician
Pediatrics
Code: 208000000X
4301038295(MI)
Clinical Biochemical Genetics PhysicianPrimary
Medical Genetics — Clinical Biochemical Genetics
Code: 207SG0202X
4301038295(MI)
Research & Publications (16)
A review of the role of enhanced apoptosis in the pathophysiology of cystinosis.
PMID 17728168·Mol Genet Metab·2007
6-review
Emergency preparedness for newborn screening and genetic services.
PMID 19444127·Genet Med·2009
8-other
Increased apoptosis in cystinotic fibroblasts and renal proximal tubule epithelial cells results from cysteinylation of protein kinase Cdelta.
PMID 17021265·J Am Soc Nephrol·2006
8-other
Genetic/metabolic health care delivery during and after hurricanes Katrina and Rita.
PMID 16311054·Mol Genet Metab·2006
8-other
Potential role of apoptosis in development of the cystinotic phenotype.
PMID 15622500·Pediatr Nephrol·2005
6-review
First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future.
PMID 15747161·Pediatr Nephrol·2005
6-review
Lysosomal cystine augments apoptosis and causes the phenotype in cystinosis.
PMID 15719032·Beijing Da Xue Xue Bao Yi Xue Ban·2005
8-other
Sucrose-induced vacuolation results in increased expression of cholesterol biosynthesis and lysosomal genes.
PMID 14720509·Exp Cell Res·2004
8-other
A multicentre randomised double masked clinical trial of a new formulation of topical cysteamine for the treatment of corneal cystine crystals in cystinosis.
PMID 12488257·Br J Ophthalmol·2003
3-trial
Lysosomal cystine storage augments apoptosis in cultured human fibroblasts and renal tubular epithelial cells.
PMID 12444206·J Am Soc Nephrol·2002
8-other
Expression of CTNS alleles: subcellular localization and aminoglycoside correction in vitro.
PMID 11855931·Mol Genet Metab·2002
8-other
CTNS mutations in African American patients with cystinosis.
PMID 11708862·Mol Genet Metab·2001
5-case
Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations.
PMID 10625078·Pediatr Res·2000
8-other
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 1500 E MEDICAL CENTER DR
ANN ARBOR, MI 48109 - Phone
- (734) 936-4000
Quick Facts
- NPI
- 1457439994
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 2
- Locations
- 1
- Publications
- 16
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