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FRIEDHELM HILDEBRANDT, MD

MD

Pediatric Nephrology Physician

NPI: 1912911173Individual

Specialties, Licenses & Credentials

Pediatrics Physician

Pediatrics

Code: 208000000X

4301079140(MI)
Pediatric Nephrology PhysicianPrimary

Pediatrics — Pediatric Nephrology

Code: 2080P0210X

4301079140(MI)

Research & Publications (20)

Specific podocin mutations determine age of onset of nephrotic syndrome all the way into adult life.
PMID 19282856·Kidney Int·2009
6-review
A systematic approach to mapping recessive disease genes in individuals from outbred populations.
PMID 19165332·PLoS Genet·2009
8-other
Nephronophthisis: disease mechanisms of a ciliopathy.
PMID 19118152·J Am Soc Nephrol·2009
6-review
Nephronophthisis-associated ciliopathies.
PMID 17513324·J Am Soc Nephrol·2007
6-review
Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?
PMID 16341073·Nat Rev Genet·2005
6-review
HomozygosityMapper--an interactive approach to homozygosity mapping.
PMID 19465395·Nucleic Acids Res·2009
8-other
Molecular cloning and expression of phospholipase C epsilon 1 in zebrafish.
PMID 19332147·Gene Expr Patterns·2009
7-preclinical
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
PMID 19430481·Nat Genet·2009
7-preclinical
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
PMID 19508969·J Med Genet·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
Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT).
PMID 18846391·Pediatr Nephrol·2009
8-other
Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome.
PMID 18543005·Pediatr Nephrol·2008
8-other
Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.
PMID 18503012·Nephrol Dial Transplant·2008
8-other
Cyclosporin A is superior to cyclophosphamide in children with steroid-resistant nephrotic syndrome-a randomized controlled multicentre trial by the Arbeitsgemeinschaft für Pädiatrische Nephrologie.
PMID 18481113·Pediatr Nephrol·2008
4-observational
Nephrocystin-1 interacts directly with Ack1 and is expressed in human collecting duct.
PMID 18477472·Biochem Biophys Res Commun·2008
8-other
Mutations in FN1 cause glomerulopathy with fibronectin deposits.
PMID 18268355·Proc Natl Acad Sci U S A·2008
8-other
Jouberin localizes to collecting ducts and interacts with nephrocystin-1.
PMID 18633336·Kidney Int·2008
7-preclinical
Genetic and physical interaction between the NPHP5 and NPHP6 gene products.
PMID 18723859·Hum Mol Genet·2008
7-preclinical
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
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
PMID 18674751·Am J Hum Genet·2008
7-preclinical

Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.

Contact & Hours

Address
1500 EAST MEDICAL CENTER DR, 8TH FLOOR C.S. MOTT CHILDREN'S HOSPITAL
ANN ARBOR, MI 48109

Location

Practice Location

1500 EAST MEDICAL CENTER DR, ANN ARBOR, MI
(734) 936-4185

Quick Facts

NPI
1912911173
Entity Type
Individual
Gender
Male
Medicare
Not confirmed
Specialties
2
Locations
1
Publications
20

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