Back to Search

N. SCHANEN, MD

MD

Clinical Genetics (M.D.) Physician

NPI: 1235229972Individual

Specialties, Licenses & Credentials

Clinical Genetics (M.D.) PhysicianPrimary

Medical Genetics — Clinical Genetics (M.D.)

Code: 207SG0201X

C10006785(DE)

Research & Publications (20)

Epigenetics of autism spectrum disorders.
PMID 16987877·Hum Mol Genet·2006
6-review
The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13.
PMID 18840528·Neurobiol Dis·2010
6-review
Mecp2 deficiency decreases bone formation and reduces bone volume in a rodent model of Rett syndrome.
PMID 19414073·Bone·2009
7-preclinical
Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number.
PMID 18835857·J Med Genet·2009
5-case
Analysis of protein domains and Rett syndrome mutations indicate that multiple regions influence chromatin-binding dynamics of the chromatin-associated protein MECP2 in vivo.
PMID 18334558·J Cell Sci·2008
7-preclinical
Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15.
PMID 18177502·BMC Genet·2008
5-case
Atypical breakpoints generating mosaic interstitial duplication and triplication of chromosome 15q11-q13.
PMID 17853460·Am J Med Genet A·2007
5-case
Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways.
PMID 17519220·Hum Mol Genet·2007
7-preclinical
Differential distribution of the MeCP2 splice variants in the postnatal mouse brain.
PMID 17278130·J Comp Neurol·2007
7-preclinical
Genomic and functional profiling of duplicated chromosome 15 cell lines reveal regulatory alterations in UBE3A-associated ubiquitin-proteasome pathway processes.
PMID 16446308·Hum Mol Genet·2006
4-observational
Pathophysiological mechanisms for actions of the neurotrophins.
PMID 17107602·Brain Pathol·2006
6-review
PC12 cells regulate inducible cyclic AMP (cAMP) element repressor expression to differentially control cAMP response element-dependent transcription in response to nerve growth factor and cAMP.
PMID 17059558·J Neurochem·2006
7-preclinical
Does genotype predict phenotype in Rett syndrome?
PMID 16225834·J Child Neurol·2005
6-review
Rett syndrome: pathogenesis, diagnosis, strategies, therapies, and future research directions.
PMID 16225823·J Child Neurol·2005
8-other
Frasier syndrome comes full circle: genetic studies performed in an original patient.
PMID 15973330·J Pediatr·2005
5-case
High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage.
PMID 15197683·Am J Hum Genet·2004
8-other
Supernumerary tricentric derivative chromosome 15 in two boys with intractable epilepsy: another mechanism for partial hexasomy.
PMID 15141347·Hum Genet·2004
5-case
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome.
PMID 15034579·Nat Genet·2004
8-other
Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation.
PMID 12966522·Am J Med Genet A·2003
5-case
Persistent TrkA activity is necessary to maintain transcription in neuronally differentiated PC12 cells.
PMID 12909622·J Biol Chem·2003
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
1600 ROCKLAND RD
WILMINGTON, DE 19803

Location

Practice Location

1600 ROCKLAND RD, WILMINGTON, DE
(302) 651-4200

Quick Facts

NPI
1235229972
Entity Type
Individual
Gender
Female
Medicare
Not confirmed
Specialties
1
Locations
1
Publications
20

Are you this provider?

Claim Your Profile