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UTA FRANCKE, M.D.
M.D.
NPI: 1710052832Individual
Specialties, Licenses & Credentials
Clinical Cytogenetics Physician
Medical Genetics — Clinical Cytogenetics
Code: 207SC0300X
A25346(CA)
Pediatrics Physician
Pediatrics
Code: 208000000X
A25346(CA)
Clinical Genetics (M.D.) PhysicianPrimary
Medical Genetics — Clinical Genetics (M.D.)
Code: 207SG0201X
825346(CA)
Research & Publications (20)
Mechanisms of disease: neurogenetics of MeCP2 deficiency.
PMID 16932552·Nat Clin Pract Neurol·2006
6-review
The human genome project: implications for the endocrinologist.
PMID 11837493·J Pediatr Endocrinol Metab·2001
6-review
Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations.
PMID 19117906·Pediatrics·2009
4-observational
Widespread changes in dendritic and axonal morphology in Mecp2-mutant mouse models of Rett syndrome: evidence for disruption of neuronal networks.
PMID 19296534·J Comp Neurol·2009
7-preclinical
Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion.
PMID 19353630·Am J Med Genet A·2009
8-other
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.
PMID 19002209·Eur J Hum Genet·2009
8-other
The influence of different irradiation doses and desensitizer application on demineralization of human dentin.
PMID 19442566·Oral Oncol·2009
8-other
Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure.
PMID 18477000·Clin Genet·2008
5-case
Comparative study of brain morphology in Mecp2 mutant mouse models of Rett syndrome.
PMID 18306326·J Comp Neurol·2008
7-preclinical
Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands.
PMID 18310266·J Med Genet·2008
8-other
SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice.
PMID 18320030·PLoS One·2008
7-preclinical
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.
PMID 17701892·Am J Hum Genet·2007
4-observational
DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiency.
PMID 17701895·Am J Hum Genet·2007
7-preclinical
Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targets.
PMID 17584923·BMC Med Genet·2007
7-preclinical
An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism.
PMID 16971481·J Med Genet·2007
5-case
A Marfan syndrome gene expression phenotype in cultured skin fibroblasts.
PMID 17850668·BMC Genomics·2007
8-other
Identification of cis-regulatory elements for MECP2 expression.
PMID 16613900·Hum Mol Genet·2006
7-preclinical
NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21.
PMID 16554754·Nature·2006
7-preclinical
Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.
PMID 16380922·Am J Hum Genet·2005
4-observational
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
Via practice · 2 locations total
- Address
- 725 WELCH RD
PALO ALTO, CA 94304 - Phone
- (650) 497-8000
Quick Facts
- NPI
- 1710052832
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 3
- Locations
- 2
- Publications
- 20
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