Scholl T - Search Results

1

Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa.

Sangaré M, Hendrickson B, Sango HA, Chen K, Nofziger J, Amara A, Dutra A, Schindler AB, Guindo A, Traoré M, Harmison G, Pak E, Yaro FN, Bricceno K, Grunseich C, Chen G, Boehm M, Zukosky K, Bocoum N, Meilleur KG, Daou F, Bagayogo K, Coulibaly YI, Diakité M, Fay MP, Lee HS, Saad A, Gribaa M, Singleton AB, Maiga Y, Auh S, Landouré G, Fairhurst RM, Burnett BG, Scholl T, Fischbeck KH. Sangaré M, et al. Among authors: scholl t. Ann Neurol. 2014 Apr;75(4):525-32. doi: 10.1002/ana.24114. Epub 2014 Apr 2. Ann Neurol. 2014. PMID: 24515897 Free PMC article.

2

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens.

Sugarman EA, Nagan N, Zhu H, Akmaev VR, Zhou Z, Rohlfs EM, Flynn K, Hendrickson BC, Scholl T, Sirko-Osadsa DA, Allitto BA. Sugarman EA, et al. Among authors: scholl t. Eur J Hum Genet. 2012 Jan;20(1):27-32. doi: 10.1038/ejhg.2011.134. Epub 2011 Aug 3. Eur J Hum Genet. 2012. PMID: 21811307 Free PMC article.

3

A GC-wave correction algorithm that improves the analytical performance of aCGH.

Leo A, Walker AM, Lebo MS, Hendrickson B, Scholl T, Akmaev VR. Leo A, et al. Among authors: scholl t. J Mol Diagn. 2012 Nov;14(6):550-9. doi: 10.1016/j.jmoldx.2012.06.002. Epub 2012 Aug 23. J Mol Diagn. 2012. PMID: 22922130 Free article.

4

Differences in SMN1 allele frequencies among ethnic groups within North America.

Hendrickson BC, Donohoe C, Akmaev VR, Sugarman EA, Labrousse P, Boguslavskiy L, Flynn K, Rohlfs EM, Walker A, Allitto B, Sears C, Scholl T. Hendrickson BC, et al. Among authors: scholl t. J Med Genet. 2009 Sep;46(9):641-4. doi: 10.1136/jmg.2009.066969. Epub 2009 Jul 21. J Med Genet. 2009. PMID: 19625283 Free PMC article.

5

Single nucleotide polymorphisms in clinical genetic testing: the characterization of the clinical significance of genetic variants and their application in clinical research for BRCA1.

Judkins T, Hendrickson BC, Deffenbaugh AM, Scholl T. Judkins T, et al. Among authors: scholl t. Mutat Res. 2005 Jun 3;573(1-2):168-79. doi: 10.1016/j.mrfmmm.2004.07.024. Mutat Res. 2005. PMID: 15829246 Review.

6

Application of haplotype pair analysis for the identification of hemizygous loci.

Hendrickson BC, Pruss D, Lyon E, Scholl T. Hendrickson BC, et al. Among authors: scholl t. J Med Genet. 2003 May;40(5):346-7. doi: 10.1136/jmg.40.5.346. J Med Genet. 2003. PMID: 12746396 Free PMC article.

7

A biochemical analysis demonstrates that the BRCA1 intronic variant IVS10-2A--> C is a mutation.

Keaton JC, Nielsen DR, Hendrickson BC, Pyne MT, Scheuer L, Ward BE, Brothman AR, Scholl T. Keaton JC, et al. Among authors: scholl t. J Hum Genet. 2003;48(8):399-403. doi: 10.1007/s10038-003-0044-0. J Hum Genet. 2003. PMID: 14513821

8

Two rare novel polymorphisms in the D8S1179 and D13S317 markers and method to mitigate their impact on human identification.

Forrest SW, Kupferschmid TD, Hendrickson BC, Judkins T, Petersen DJ, Scholl T. Forrest SW, et al. Among authors: scholl t. Croat Med J. 2004 Aug;45(4):457-60. Croat Med J. 2004. PMID: 15311419 Free article.

9

The BRCA2 genetic variant IVS7 + 2T-->G is a mutation.

Pyne MT, Brothman AR, Ward B, Pruss D, Hendrickson BC, Scholl T. Pyne MT, et al. Among authors: scholl t. J Hum Genet. 2000;45(6):351-7. doi: 10.1007/s100380070007. J Hum Genet. 2000. PMID: 11185744

10

A multi-exonic BRCA1 deletion identified in multiple families through single nucleotide polymorphism haplotype pair analysis and gene amplification with widely dispersed primer sets.

Ward BD, Hendrickson BC, Judkins T, Deffenbaugh AM, Leclair B, Ward BE, Scholl T. Ward BD, et al. Among authors: scholl t. J Mol Diagn. 2005 Feb;7(1):139-42. doi: 10.1016/S1525-1578(10)60020-7. J Mol Diagn. 2005. PMID: 15681486 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

280 results

Search Page