Basehore MJ - Search Results

1

A comprehensive evaluation of IL4 variants in ethnically diverse populations: association of total serum IgE levels and asthma in white subjects.

Basehore MJ, Howard TD, Lange LA, Moore WC, Hawkins GA, Marshik PL, Harkins MS, Meyers DA, Bleecker ER. Basehore MJ, et al. J Allergy Clin Immunol. 2004 Jul;114(1):80-7. doi: 10.1016/j.jaci.2004.05.035. J Allergy Clin Immunol. 2004. PMID: 15241348

2

Promoter polymorphisms in the nitric oxide synthase 3 gene are associated with ischemic stroke susceptibility in young black women.

Howard TD, Giles WH, Xu J, Wozniak MA, Malarcher AM, Lange LA, Macko RF, Basehore MJ, Meyers DA, Cole JW, Kittner SJ. Howard TD, et al. Among authors: basehore mj. Stroke. 2005 Sep;36(9):1848-51. doi: 10.1161/01.STR.0000177978.97428.53. Epub 2005 Aug 11. Stroke. 2005. PMID: 16100023 Free PMC article.

3

Cognitive correlates of a functional COMT polymorphism in children with 22q11.2 deletion syndrome.

Shashi V, Keshavan MS, Howard TD, Berry MN, Basehore MJ, Lewandowski E, Kwapil TR. Shashi V, et al. Among authors: basehore mj. Clin Genet. 2006 Mar;69(3):234-8. doi: 10.1111/j.1399-0004.2006.00569.x. Clin Genet. 2006. PMID: 16542388

4

Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia.

Giampietro PF, Baker MW, Basehore MJ, Jones JR, Seroogy CM. Giampietro PF, et al. Among authors: basehore mj. Am J Med Genet A. 2013 Jun;161A(6):1432-5. doi: 10.1002/ajmg.a.35885. Epub 2013 Apr 23. Am J Med Genet A. 2013. PMID: 23613309 Free PMC article.

5

Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).

Basehore MJ, Michaelson-Cohen R, Levy-Lahad E, Sismani C, Bird LM, Friez MJ, Walsh T, Abidi F, Holloway L, Skinner C, McGee S, Alexandrou A, Syrrou M, Patsalis PC, Raymond G, Wang T, Schwartz CE, King MC, Stevenson RE. Basehore MJ, et al. Clin Genet. 2015 May;87(5):461-6. doi: 10.1111/cge.12420. Epub 2014 May 30. Clin Genet. 2015. PMID: 24805811 Review.

6

Identification and characterization of a novel homozygous deletion in the alpha-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB).

Champion KJ, Basehore MJ, Wood T, Destrée A, Vannuffel P, Maystadt I. Champion KJ, et al. Among authors: basehore mj. Mol Genet Metab. 2010 May;100(1):51-6. doi: 10.1016/j.ymgme.2010.01.004. Epub 2010 Jan 15. Mol Genet Metab. 2010. PMID: 20138557

7

Classic phenotype of Coffin-Lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain.

Rojnueangnit K, Jones JR, Basehore MJ, Robin NH. Rojnueangnit K, et al. Among authors: basehore mj. Am J Med Genet A. 2014 Feb;164A(2):516-21. doi: 10.1002/ajmg.a.36299. Epub 2013 Dec 5. Am J Med Genet A. 2014. PMID: 24311527

8

Molecular analysis of Fragile X syndrome.

Basehore MJ, Friez MJ. Basehore MJ, et al. Curr Protoc Hum Genet. 2009 Oct;Chapter 9:Unit 9.5. doi: 10.1002/0471142905.hg0905s63. Curr Protoc Hum Genet. 2009. PMID: 19806593

9

Molecular analysis of fragile X syndrome.

Basehore MJ, Friez MJ. Basehore MJ, et al. Curr Protoc Hum Genet. 2014 Jan 21;80:9.5.1-9.5.19. doi: 10.1002/0471142905.hg0905s80. Curr Protoc Hum Genet. 2014. PMID: 24510684

10

Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani-Lenz syndrome.

Lindy AS, Bupp CP, McGee SJ, Steed E, Stevenson RE, Basehore MJ, Friez MJ. Lindy AS, et al. Among authors: basehore mj. Am J Med Genet A. 2014 Sep;164A(9):2391-7. doi: 10.1002/ajmg.a.36647. Epub 2014 Jun 12. Am J Med Genet A. 2014. PMID: 24924585

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

18 results

Search Page

Filters