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ELIZABETH OTTO, M.D.
M.D.
Internal Medicine Physician
NPI: 1932528221IndividualAccepts Medicare
Specialties, Licenses & Credentials
Student in an Organized Health Care Education/Training Program
Student in an Organized Health Care Education/Training Program
Code: 390200000X
Internal Medicine PhysicianPrimary
Internal Medicine
Code: 207R00000X
D0083117(MD)
Education
OTHER
Class of 2013
Research & Publications (20)
A systematic approach to mapping recessive disease genes in individuals from outbred populations.
PMID 19165332·PLoS Genet·2009
8-other
Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT).
PMID 18846391·Pediatr Nephrol·2009
8-other
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
PMID 19508969·J Med Genet·2009
8-other
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
PMID 19430481·Nat Genet·2009
7-preclinical
New insights into the phylogeny of Pleopeltis and related Neotropical genera (Polypodiaceae, Polypodiopsida).
PMID 19435610·Mol Phylogenet Evol·2009
8-other
A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies.
PMID 19215039·Am J Med Genet A·2009
5-case
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
PMID 18950740·Am J Hum Genet·2008
8-other
Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing.
PMID 18076122·Hum Mutat·2008
8-other
NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis.
PMID 18199800·J Am Soc Nephrol·2008
7-preclinical
Mutations in FN1 cause glomerulopathy with fibronectin deposits.
PMID 18268355·Proc Natl Acad Sci U S A·2008
8-other
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
PMID 18674751·Am J Hum Genet·2008
7-preclinical
Genetic and physical interaction between the NPHP5 and NPHP6 gene products.
PMID 18723859·Hum Mol Genet·2008
7-preclinical
Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis.
PMID 17618285·Nat Genet·2007
7-preclinical
The Uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effect.
PMID 17245395·Kidney Int·2007
5-case
Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.
PMID 17357085·Am J Hum Genet·2007
8-other
Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome.
PMID 17617513·J Med Genet·2007
8-other
Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis.
PMID 17960139·Kidney Int·2007
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
- 200 MEMORIAL AVE, DEPARTMENT OF HOSPITALIST MEDICINE
WESTMINSTER, MD 21157 - Phone
- (410) 871-6899
Quick Facts
- NPI
- 1932528221
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Accepted
- Specialties
- 2
- Locations
- 1
- Years in Practice
- 13
- Publications
- 20
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