Boerkoel CF - Search Results

1

Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.

Szafranski P, Coban-Akdemir ZH, Rupps R, Grazioli S, Wensley D, Jhangiani SN, Popek E, Lee AF, Lupski JR, Boerkoel CF, Stankiewicz P. Szafranski P, et al. Among authors: boerkoel cf. Am J Med Genet A. 2016 Sep;170(9):2440-4. doi: 10.1002/ajmg.a.37822. Epub 2016 Jul 4. Am J Med Genet A. 2016. PMID: 27374786

2

Schimke immunoosseous dysplasia complicated by moyamoya phenomenon.

Boerkoel CF, Nowaczyk MJ, Blaser SI, Meschino WS, Weksberg R. Boerkoel CF, et al. Am J Med Genet. 1998 Jun 30;78(2):118-22. doi: 10.1002/(sici)1096-8628(19980630)78:2<118::aid-ajmg4>3.0.co;2-k. Am J Med Genet. 1998. PMID: 9674900

3

Molecular mechanisms for CMT1A duplication and HNPP deletion.

Boerkoel CF, Inoue K, Reiter LT, Warner LE, Lupski JR. Boerkoel CF, et al. Ann N Y Acad Sci. 1999 Sep 14;883:22-35. Ann N Y Acad Sci. 1999. PMID: 10586226 Review.

4

Periaxin mutations cause recessive Dejerine-Sottas neuropathy.

Boerkoel CF, Takashima H, Stankiewicz P, Garcia CA, Leber SM, Rhee-Morris L, Lupski JR. Boerkoel CF, et al. Am J Hum Genet. 2001 Feb;68(2):325-33. doi: 10.1086/318208. Epub 2000 Dec 15. Am J Hum Genet. 2001. PMID: 11133365 Free PMC article.

5

Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy.

Bolino A, Lonie LJ, Zimmer M, Boerkoel CF, Takashima H, Monaco AP, Lupski JR. Bolino A, et al. Among authors: boerkoel cf. Neurogenetics. 2001 Mar;3(2):107-9. doi: 10.1007/s100480000101. Neurogenetics. 2001. PMID: 11354824

6

EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy.

Boerkoel CF, Takashima H, Bacino CA, Daentl D, Lupski JR. Boerkoel CF, et al. Neurogenetics. 2001 Jul;3(3):153-7. doi: 10.1007/s100480100107. Neurogenetics. 2001. PMID: 11523566

7

Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy.

Takashima H, Boerkoel CF, Lupski JR. Takashima H, et al. Among authors: boerkoel cf. Genet Med. 2001 Sep-Oct;3(5):335-42. doi: 10.1097/00125817-200109000-00002. Genet Med. 2001. PMID: 11545686 Free article.

8

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

Boerkoel CF, Takashima H, John J, Yan J, Stankiewicz P, Rosenbarker L, André JL, Bogdanovic R, Burguet A, Cockfield S, Cordeiro I, Fründ S, Illies F, Joseph M, Kaitila I, Lama G, Loirat C, McLeod DR, Milford DV, Petty EM, Rodrigo F, Saraiva JM, Schmidt B, Smith GC, Spranger J, Stein A, Thiele H, Tizard J, Weksberg R, Lupski JR, Stockton DW. Boerkoel CF, et al. Nat Genet. 2002 Feb;30(2):215-20. doi: 10.1038/ng821. Epub 2002 Jan 22. Nat Genet. 2002. PMID: 11799392

9

Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

Boerkoel CF, Takashima H, Garcia CA, Olney RK, Johnson J, Berry K, Russo P, Kennedy S, Teebi AS, Scavina M, Williams LL, Mancias P, Butler IJ, Krajewski K, Shy M, Lupski JR. Boerkoel CF, et al. Ann Neurol. 2002 Feb;51(2):190-201. doi: 10.1002/ana.10089. Ann Neurol. 2002. PMID: 11835375

10

The genetic convergence of Charcot-Marie-Tooth disease types 1 and 2 and the role of genetics in sporadic neuropathy.

Boerkoel CF, Takashima H, Lupski JR. Boerkoel CF, et al. Curr Neurol Neurosci Rep. 2002 Jan;2(1):70-7. doi: 10.1007/s11910-002-0056-8. Curr Neurol Neurosci Rep. 2002. PMID: 11898586 Review.

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