Stolle CA - Search Results

1

Frataxin point mutations in two patients with Friedreich's ataxia and unusual clinical features.

McCormack ML, Guttmann RP, Schumann M, Farmer JM, Stolle CA, Campuzano V, Koenig M, Lynch DR. McCormack ML, et al. Among authors: stolle ca. J Neurol Neurosurg Psychiatry. 2000 May;68(5):661-4. doi: 10.1136/jnnp.68.5.661. J Neurol Neurosurg Psychiatry. 2000. PMID: 10766903 Free PMC article.

2

Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late-onset Friedreich ataxia.

Stolle CA, Frackelton EC, McCallum J, Farmer JM, Tsou A, Wilson RB, Lynch DR. Stolle CA, et al. Mov Disord. 2008 Jul 15;23(9):1303-6. doi: 10.1002/mds.22012. Mov Disord. 2008. PMID: 18464277

3

A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia.

Deutsch EC, Santani AB, Perlman SL, Farmer JM, Stolle CA, Marusich MF, Lynch DR. Deutsch EC, et al. Among authors: stolle ca. Mol Genet Metab. 2010 Oct-Nov;101(2-3):238-45. doi: 10.1016/j.ymgme.2010.07.001. Epub 2010 Jul 8. Mol Genet Metab. 2010. PMID: 20675166 Free PMC article.

4

Exclusion of mutations in the gene for type III collagen (COL3A1) as a common cause of intracranial aneurysms or cervical artery dissections: results from sequence analysis of the coding sequences of type III collagen from 55 unrelated patients.

Kuivaniemi H, Prockop DJ, Wu Y, Madhatheri SL, Kleinert C, Earley JJ, Jokinen A, Stolle C, Majamaa K, Myllylä VV, et al. Kuivaniemi H, et al. Neurology. 1993 Dec;43(12):2652-8. doi: 10.1212/wnl.43.12.2652. Neurology. 1993. PMID: 8255472

5

Mutations in the human TWIST gene.

Gripp KW, Zackai EH, Stolle CA. Gripp KW, et al. Among authors: stolle ca. Hum Mutat. 2000;15(2):150-5. doi: 10.1002/(SICI)1098-1004(200002)15:2<150::AID-HUMU3>3.0.CO;2-D. Hum Mutat. 2000. PMID: 10649491 Review.

6

Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III.

Gripp KW, Stolle CA, McDonald-McGinn DM, Markowitz RI, Bartlett SP, Katowitz JA, Muenke M, Zackai EH. Gripp KW, et al. Among authors: stolle ca. Am J Med Genet. 1998 Jul 24;78(4):356-60. doi: 10.1002/(sici)1096-8628(19980724)78:4<356::aid-ajmg10>3.0.co;2-h. Am J Med Genet. 1998. PMID: 9714439

7

Childhood cerebellar hemangioblastoma does not predict germline or somatic mutations in the von Hippel-Lindau tumor suppressor gene.

Fisher PG, Tontiplaphol A, Pearlman EM, Duffner PK, Hyder DJ, Stolle CA, Vortmeyer AO, Zhuang Z. Fisher PG, et al. Among authors: stolle ca. Ann Neurol. 2002 Feb;51(2):257-60. doi: 10.1002/ana.10107. Ann Neurol. 2002. PMID: 11835384

8

Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array.

Izumi K, Santani AB, Deardorff MA, Feret HA, Tischler T, Thiel BD, Mulchandani S, Stolle CA, Spinner NB, Zackai EH, Conlin LK. Izumi K, et al. Among authors: stolle ca. Am J Med Genet A. 2013 Jan;161A(1):166-71. doi: 10.1002/ajmg.a.35625. Epub 2012 Dec 7. Am J Med Genet A. 2013. PMID: 23225330

9

Mung bean nuclease treatment increases capture specificity of microdroplet-PCR based targeted DNA enrichment.

Yu Z, Cao K, Tischler T, Stolle CA, Santani AB. Yu Z, et al. Among authors: stolle ca. PLoS One. 2014 Jul 24;9(7):e103491. doi: 10.1371/journal.pone.0103491. eCollection 2014. PLoS One. 2014. PMID: 25058678 Free PMC article.

10

Outcomes of clinical examination and genetic testing of 500 individuals with hearing loss evaluated through a genetics of hearing loss clinic.

Yaeger D, McCallum J, Lewis K, Soslow L, Shah U, Potsic W, Stolle C, Krantz ID. Yaeger D, et al. Am J Med Genet A. 2006 Apr 15;140(8):827-36. doi: 10.1002/ajmg.a.31179. Am J Med Genet A. 2006. PMID: 16532460

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