Stolle CA - Search Results

1

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

2

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.

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

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

5

Interpretation of association signals and identification of causal variants from genome-wide association studies.

Wang K, Dickson SP, Stolle CA, Krantz ID, Goldstein DB, Hakonarson H. Wang K, et al. Among authors: stolle ca. Am J Hum Genet. 2010 May 14;86(5):730-42. doi: 10.1016/j.ajhg.2010.04.003. Epub 2010 Apr 29. Am J Hum Genet. 2010. PMID: 20434130 Free PMC article.

6

An Expanded Role for HLA Genes: HLA-B Encodes a microRNA that Regulates IgA and Other Immune Response Transcripts.

Chitnis N, Clark PM, Kamoun M, Stolle C, Brad Johnson F, Monos DS. Chitnis N, et al. Front Immunol. 2017 May 19;8:583. doi: 10.3389/fimmu.2017.00583. eCollection 2017. Front Immunol. 2017. PMID: 28579988 Free PMC article.

7

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.

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

Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome.

Benhammou JN, Vocke CD, Santani A, Schmidt LS, Baba M, Seyama K, Wu X, Korolevich S, Nathanson KL, Stolle CA, Linehan WM. Benhammou JN, et al. Among authors: stolle ca. Genes Chromosomes Cancer. 2011 Jun;50(6):466-77. doi: 10.1002/gcc.20872. Epub 2011 Mar 15. Genes Chromosomes Cancer. 2011. PMID: 21412933 Free PMC article.

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