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JOSEPH SILHAVY, M.D.
M.D.
Pediatrics Physician
NPI: 1366475303Individual
Specialties, Licenses & Credentials
Pediatrics PhysicianPrimary
Pediatrics
Code: 208000000X
MD106450(MO)
Research & Publications (9)
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
PMID 19668216·Nat Genet·2009
7-preclinical
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
PMID 18674751·Am J Hum Genet·2008
7-preclinical
The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families.
PMID 18268248·Neurology·2008
8-other
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
PMID 18565097·Clin Genet·2008
5-case
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.
PMID 17564967·Am J Hum Genet·2007
8-other
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
PMID 16453322·Ann Neurol·2006
4-observational
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.
PMID 16682970·Nat Genet·2006
7-preclinical
Complete genomic sequence of bacteriophage B3, a Mu-like phage of Pseudomonas aeruginosa.
PMID 15375138·J Bacteriol·2004
8-other
Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.
PMID 15467982·Am J Hum Genet·2004
4-observational
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 3 PARK PL
SWANSEA, IL 62226 - Phone
- (618) 222-9244
Quick Facts
- NPI
- 1366475303
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 2
- Locations
- 1
- Publications
- 9
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