Kelley Kneile

A slowly progressive form of limb‐girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics

Samiah Al-Zaidy, Vinod Malik, Kelley Kneile, Xiomara Q. Rosales et autres

Limb-girdle muscular dystrophy type 2C (LGMD2C) is considered one of the severe forms of childhood-onset muscular dystrophy. The geographical distribution of founder mutations in the SGCG gene has a prominent effect on the prevalence of LGMD2C in certain populations. The aim of …

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Founder Mutation In The γ-Sarcoglycan Gene Causes Milder Phenotype Of Limb-Girdle Muscular Dystrophy Type 2C (LGMD2C) in the Hispanic Population of Puerto Rico (S46.002)

Samiah Al-Zaidy, Vinod Malik, Kelley Kneile, Xiomara Q. Rosales et autres

OBJECTIVE: To ascertain a potential founder effect of the E263K mutation in the γ-sarcoglycan (SGCG) gene in Puerto Rican Hispanics by performing haplotype analysis on four unrelated families from this population. We also compared clinical and immunohistochemical analyses of the phenotype associated …

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Integrated genomic characterization of endometrial carcinoma

Gad Getz, Stacey Gabriel, Kristian Cibulskis, Eric S. Lander et autres

SummaryWe performed an integrated genomic, transcriptomic, and proteomic characterization of 373 endometrial carcinomas using array- and sequencing-based technologies. Uterine serous tumors and ~25% of high-grade endometrioid tumors have extensive copy number alterations, few DNA methylation changes, low ER/PR levels, and frequent TP53 …

D.P.4 Comparison of commercially-available exome capture kits in the diagnosis of neuromuscular disorders

Kevin M. Flanigan, Julie M. Gastier‐Foster, Robert E. Pyatt, Xiomara Q. Rosales et autres

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D.O.1 A two-tiered approach to newborn screening for Duchenne muscular dystrophy (DMD) using dried blood spots for sequential CK and DNA analysis

J. Mendell, Christopher Shilling, N. Leslie, Kevin M. Flanigan et autres

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Evidence‐based path to newborn screening for duchenne muscular dystrophy

Jerry R. Mendell, Chris Shilling, Nancy D. Leslie, Kevin M. Flanigan et autres

OBJECTIVE: Creatine kinase (CK) levels are increased on dried blood spots in newborns related to the birthing process. As a marker for newborn screening, CK in Duchenne muscular dystrophy (DMD) results in false-positive testing. In this report, we introduce a 2-tier system …

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Abstract 4350: Translating diagnostic gene expression profiles for pediatric solid tumors

Daniel Wai, Michele R. Wing, Kelley Kneile, Yvonne Moyer et autres

Abstract BACKGROUND: Features of cancer genomics including gene expression levels can be employed to create biomarker profiles that can predict prior to therapy the diagnosis and prognosis of an individual patient. We aim to translate robust and reproducible diagnostic and prognostic profiles …

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