Physician

Medical Genetics

Dr. N C. Schanen, MD

Schanen is an expert in the field of Medical Genetics. Doctor N C. Schanen, MD is also a published doctor. She has 42 paper published. The most recent paper is: Exclusion of the gastrin-releasing peptide receptor (GRPR) locus as a candidate gene for Rett syndrome.

Publications

Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene.
Mice with an isoform-ablating Mecp2-exon 1 mutation recapitulate the neurologic deficits of Rett syndrome.
The Interstitial Duplication 15q11.2-q13 Syndrome Includes Autism, Mild Facial Anomalies and a Characteristic EEG Signature.
Axonal Localization of transgene mRNA in mature PNS and CNS neurons.
Limited availability of ZBP1 restricts axonal mRNA localization and nerve regeneration capacity.
Rett syndrome: revised diagnostic criteria and nomenclature.
A single-tube quantitative high-resolution melting curve method for parent-of-origin determination of 15q duplications.
Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report.
Mecp2 deficiency decreases bone formation and reduces bone volume in a rodent model of Rett syndrome.
The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13.
Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number.
Analysis of protein domains and Rett syndrome mutations indicate that multiple regions influence chromatin-binding dynamics of the chromatin-associated protein MECP2 i...
Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15.
Atypical breakpoints generating mosaic interstitial duplication and triplication of chromosome 15q11-q13.
Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways.
Differential distribution of the MeCP2 splice variants in the postnatal mouse brain.
Pathophysiological mechanisms for actions of the neurotrophins.
PC12 cells regulate inducible cyclic AMP (cAMP) element repressor expression to differentially control cAMP response element-dependent transcription in response to ner...
Epigenetics of autism spectrum disorders.
Genomic and functional profiling of duplicated chromosome 15 cell lines reveal regulatory alterations in UBE3A-associated ubiquitin-proteasome pathway processes.
Does genotype predict phenotype in Rett syndrome?
Rett syndrome: pathogenesis, diagnosis, strategies, therapies, and future research directions.
Frasier syndrome comes full circle: genetic studies performed in an original patient.
High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage.
Supernumerary tricentric derivative chromosome 15 in two boys with intractable epilepsy: another mechanism for partial hexasomy.
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome.
Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation.
Persistent TrkA activity is necessary to maintain transcription in neuronally differentiated PC12 cells.
Rett syndrome: clinical manifestations in males with MECP2 mutations.
Congenital thrombocytopenia and radio-ulnar synostosis: a new familial syndrome.
Branchial cleft anomaly, congenital heart disease, and biliary atresia: Goldenhar complex or Lambert syndrome?
Molecular approaches to the Rett syndrome gene.
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.
Identification of a new polymorphism in the 3'-untranslated region of the human serotonin receptor 2C (5-HT2C) gene.
Exclusion of the gastrin-releasing peptide receptor (GRPR) locus as a candidate gene for Rett syndrome.
Neonatal encephalopathy in two boys in families with recurrent Rett syndrome.
A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map.
Is Rett syndrome caused by a triplet repeat expansion?
Trinucleotide repeats in the human genome: size distributions for all possible triplets and detection of expanded disease alleles in a group of Huntington disease indi...
Assignment of the 5-hydroxytryptamine (serotonin) receptor 5A gene (HTR5A) to human chromosome band 7q36.1.
Isolation and characterization of microtubule-associated protein 2 (MAP2) kinase from rat brain.

Doctors Specialties

Clinical Genetics
Medical Genetics

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