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CATHERINE STOLLE, PH.D.
PH.D.
Specialist
NPI: 1942352976Individual
Specialties, Licenses & Credentials
SpecialistPrimary
Specialist
Code: 174400000X
Research & Publications (20)
Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late-onset Friedreich ataxia.
PMID 18464277·Mov Disord·2008
5-case
Hypogonadotrophic hypogonadism due to intrasellar hemangioblastoma in von Hippel-Lindau syndrome.
PMID 19215058·Am J Med Genet A·2009
5-case
Diagnostic value of ex-vivo three-dimensional micro-computed tomography imaging of primary nonhematopoietic human bone tumors: osteosarcoma versus chondrosarcoma.
PMID 18618347·Acta Radiol·2008
4-observational
A novel von Hippel-Lindau point mutation presents as apparently sporadic pheochromocytoma.
PMID 18584357·Cancer Invest·2008
5-case
A possible way out of poor healthcare resulting from demographic problems: need-orientated home-based-nursing-care and nursing-home-care.
PMID 16919123·J Nurs Manag·2006
8-other
Detection of germline deletions using real-time quantitative polymerase chain reaction in Japanese patients with von Hippel-Lindau disease.
PMID 16630138·Cancer Sci·2006
8-other
Outcomes of clinical examination and genetic testing of 500 individuals with hearing loss evaluated through a genetics of hearing loss clinic.
PMID 16532460·Am J Med Genet A·2006
8-other
Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer.
PMID 15937070·J Med Genet·2006
8-other
[Overview of evidence-based nursing: connecting research and general practice].
PMID 17140019·Pflege Z·2006
8-other
A novel Indian beta-thalassemia mutation in the CACCC box of the promoter region.
PMID 17042767·Eur J Haematol·2006
5-case
Limb-girdle muscular dystrophy in the United States.
PMID 17021404·J Neuropathol Exp Neurol·2006
4-observational
Genetically characterized positive control cell lines derived from residual clinical blood samples.
PMID 16166172·Clin Chem·2005
4-observational
Early onset hereditary papillary renal carcinoma: germline missense mutations in the tyrosine kinase domain of the met proto-oncogene.
PMID 15371818·J Urol·2004
8-other
Molecular analysis of patients with synostotic frontal plagiocephaly (unilateral coronal synostosis).
PMID 15253176·Plast Reconstr Surg·2004
8-other
Craniosynostosis with tracheal sleeve: a patient with Pfeiffer syndrome, tracheal sleeve and additional malformations in whom an FGFR2 mutation was found.
PMID 14564165·Clin Dysmorphol·2003
5-case
Childhood cerebellar hemangioblastoma does not predict germline or somatic mutations in the von Hippel-Lindau tumor suppressor gene.
PMID 11835384·Ann Neurol·2002
8-other
Somatic VHL gene deletion and point mutation in MEN 2A-associated pheochromocytoma.
PMID 11821960·Oncogene·2002
8-other
Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex.
PMID 10993904·J Biol Chem·2000
7-preclinical
Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions.
PMID 10942431·Hum Mol Genet·2000
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
- 3400 CIVIC CENTER BLVD
PHILADELPHIA, PA 19104 - Phone
- (215) 590-2266
Quick Facts
- NPI
- 1942352976
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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