Klee, Eric: search on Z-Library

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51

A case of YY1 ‐associated syndromic learning disability or Gabriele‐de Vries syndrome with myasthenia gravis

Morales‐Rosado, Joel A., Kaiwar, Charu, Smith, Benn E., Klee, Eric W., Dhamija, Radhika

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 681 KB

english, 2018

52

Proposal for Modification of Cahan's Criteria Utilizing Molecular Genetic Analyses for Cases without Baseline Histopathology: A Unique Method Applicable to Primary Radiosurgery

Rusheen, Aaron, Smadbeck, James, Schimmenti, Lisa, Klee, Eric, Link, Michael, Vasmatzis, George, Carlson, Matthew

Journal:

Journal of Neurological Surgery Part B Skull Base

Year:

2019

File:

PDF, 442 KB

2019

53

Fetal glycosylation defect due to ALG3 and COG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotype

Ferrer, Alejandro, Starosta, Rodrigo Tzovenos, Ranatunga, Wasantha, Ungar, Dani, Kozicz, Tamas, Klee, Eric, Rust, Laura M., Wick, Myra, Morava, Eva

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 724 KB

2020

54

Novel Molecular Targets ofAzadirachta indicaAssociated with Inhibition of Tumor Growth in Prostate Cancer

Saswati Mahapatra, R. Jeffrey Karnes, Michael W. Holmes, Charles Y. F. Young, John C. Cheville, Manish Kohli, Eric W. Klee, Donald J. Tindall, Krishna Vanaja Donkena

Journal:

The AAPS Journal

Year:

2011

Language:

english

File:

PDF, 909 KB

english, 2011

55

Adrenomedullin is Up-regulated in Patients With Pancreatic Cancer and Causes Insulin Resistance in β Cells and Mice

Gaurav Aggarwal, Vijaya Ramachandran, Naureen Javeed, Thiruvengadam Arumugam, Shamit Dutta, George G. Klee, Eric W. Klee, Thomas C. Smyrk, William Bamlet, Jing Jing Han, Natalia B. Rumie Vittar, Mariz

Journal:

Gastroenterology

Year:

2012

Language:

english

File:

PDF, 1.51 MB

english, 2012

56

Serum Concentrations of Prostate-Specific Antigen Measured Using Immune Extraction, Trypsin Digestion, and Tandem Mass Spectrometry Quantification of LSEPAELTDAVK Peptide

Klee, Eric W., Bondar, Olga P., Goodmanson, Marcia K., Trushin, Sergey A., Bergstralh, Eric J., Singh, Ravinder J., Anderson, N. Leigh, Klee, George G.

Journal:

Archives of Pathology & Laboratory Medicine

Year:

2014

Language:

english

File:

PDF, 627 KB

english, 2014

57

Somatic STK11 and Concomitant STK11/KRAS Mutational Frequency in Stage IV Lung Adenocarcinoma Adrenal Metastases

Gleeson, Ferga C., Kipp, Benjamin R., Levy, Michael J., Voss, Jesse S., Campion, Michael B., Minot, Douglas M., Tu, Zheng J., Klee, Eric W., Lazaridis, Konstantinos N., Kerr, Sarah E.

Journal:

Journal of Thoracic Oncology

Year:

2015

Language:

english

File:

PDF, 76 KB

english, 2015

58

Familial Creutzfeldt-Jakob Disease: Case report and role of genetic counseling in post mortem testing

Clift, Kristin, Guthrie, Kimberly, Klee, Eric W., Boczek, Nicole, Cousin, Margot, Blackburn, Patrick, Atwal, Paldeep

Journal:

Year:

2016

Language:

english

File:

PDF, 735 KB

english, 2016

59

Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines

Roy, Somak, Coldren, Christopher, Karunamurthy, Arivarasan, Kip, Nefize S., Klee, Eric W., Lincoln, Stephen E., Leon, Annette, Pullambhatla, Mrudula, Temple-Smolkin, Robyn L., Voelkerding, Karl V., Wa

Journal:

The Journal of Molecular Diagnostics

Year:

2017

Language:

english

File:

PDF, 2.74 MB

english, 2017

60

Granzyme B PET imaging of immune-mediated tumor killing as a tool for understanding immunotherapy response

LaSalle, Thomas, Austin, Emily E, Rigney, Grant, Wehrenberg-Klee, Eric, Nesti, Sarah, Larimer, Benjamin, Mahmood, Umar

Journal:

Journal for ImmunoTherapy of Cancer

Year:

2020

File:

PDF, 1.16 MB

2020

61

Mo2036 Exome Sequencing in Patients With Diarrhea-Predominant Irritable Bowel Syndrome (IBS-D) and Relationship to Colonic Transit and Bile Acid (BA) Kinetics

Camilleri, Michael, Shin, Andrea, Carlson, Paula, Grover, Madhusudan, Li, Ying, Klee, Eric W., Zinsmeister, Alan R.

Journal:

Gastroenterology

Year:

2013

Language:

english

File:

PDF, 177 KB

english, 2013

62

The ACM java task force

Roberts, Eric, Yellin, Frank, Bruce, Kim, Cutler, Rob, Cross, James H., Grissom, Scott, Klee, Karl, Rodger, Susan, Trees, Fran, Utting, Ian

Journal:

ACM SIGCSE Bulletin

Year:

2005

Language:

english

File:

PDF, 81 KB

english, 2005

63

Clinical and Biochemical Phenotypes in a Family with ENPP1 Mutations

Kotwal, Anupam, Ferrer, Alejandro, Kumar, Rajiv, Singh, Ravinder J, Murthy, Vishakantha, Schultz‐Rogers, Laura, Zimmermann, Michael, Lanpher, Brandan, Zimmerman, Kristin, Stabach, Paul R., Klee, Eric,

Journal:

Journal of Bone and Mineral Research

Year:

2019

File:

PDF, 775 KB

2019

64

Expanding DNA diagnostic panel testing: is more better?

Klee, Eric W, Hoppman-Chaney, Nicole L, Ferber, Matthew J

Journal:

Expert Review of Molecular Diagnostics

Year:

2011

Language:

english

File:

PDF, 865 KB

english, 2011

65

Percutaneous Computed Tomography–guided Renal Mass Radiofrequency Ablation versus Cryoablation: Doses of Sedation Medication Used

Truesdale, Carl M., Soulen, Michael C., Clark, Timothy W.I., Mondschein, Jeffrey I., Wehrenberg-Klee, Eric, Bruce Malkowicz, S., Wein, Alan J., Guzzo, Thomas J., William Stavropoulos, S.

Journal:

Journal of Vascular and Interventional Radiology

Year:

2013

Language:

english

File:

PDF, 78 KB

english, 2013

66

Clinical Correlates and Treatment Outcomes for Patients With Short Telomere Syndromes

Mangaonkar, Abhishek A., Ferrer, Alejandro, Pinto e Vairo, Filippo, Cousin, Margot A., Kuisle, Ryan J., Klee, Eric W., Kennedy, Cassie C., Peters, Steve G., Scott, J.P., Utz, James P., Baqir, Misbah,

Journal:

Mayo Clinic Proceedings

Year:

2018

Language:

english

File:

PDF, 163 KB

english, 2018

67

Three Rare Disease Diagnoses in One Patient through Exome Sequencing

Ferrer, Alejandro, Schultz-Rogers, Laura, Kaiwar, Charu, Kemppainen, Jennifer L, Klee, Eric W, Gavrilova, Ralitza

Journal:

Molecular Case Studies

Year:

2019

Language:

english

File:

PDF, 1.49 MB

english, 2019

68

Interpretation challenges of novel dualâclass missense and spliceâimpacting variant in POLR3Aârelated lateâonset hereditary spastic ataxia

MoralesâRosado, Joel A., Macke, Erica L., Cousin, Margot A., Oliver, Gavin R., Dhamija, Radhika, Klee, Eric W.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2020

File:

PDF, 566 KB

2020

69

Confirming Variants in Next-Generation Sequencing Panel Testing by Sanger Sequencing

Baudhuin, Linnea M., Lagerstedt, Susan A., Klee, Eric W., Fadra, Numrah, Oglesbee, Devin, Ferber, Matthew J.

Journal:

The Journal of Molecular Diagnostics

Year:

2015

Language:

english

File:

PDF, 325 KB

english, 2015

70

Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype

Boczek, Nicole J., Kruisselbrink, Teresa, Cousin, Margot A., Blackburn, Patrick R., Klee, Eric W., Gavrilova, Ralitza H., Lanpher, Brendan C.

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 348 KB

english, 2017

71

Modeling Post‐Translational Modifications and Cancer‐Associated Mutations that Impact the Heterochromatin Protein 1α‐Importin Α Heterodimers

Zimmermann, Michael T., Williams, Monique M., Klee, Eric W., Lomberk, Gwen A., Urrutia, Raul

Journal:

Proteins: Structure, Function, and Bioinformatics

Year:

2019

File:

PDF, 4.44 MB

2019

72

Clinical Applications and Utility of a Precision Medicine Approach for Patients With Unexplained Cytopenias

Mangaonkar, Abhishek A., Ferrer, Alejandro, Pinto e Vairo, Filippo, Cousin, Margot A., Kuisle, Ryan J., Gangat, Naseema, Hogan, William J., Litzow, Mark R., McAllister, Tammy M., Klee, Eric W., Lazari

Journal:

Mayo Clinic Proceedings

Year:

2019

Language:

english

File:

PDF, 602 KB

english, 2019

73

Data Mining for Biomarker Development: A Review of Tissue Specificity Analysis

Journal:

Clinics in Laboratory Medicine

Year:

2008

Language:

english

File:

PDF, 219 KB

english, 2008

74

A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics

Blackburn, Patrick R., Zimmermann, Michael T., Gass, Jennifer M., Harris, Kimberly G., Cousin, Margot A., Boczek, Nicole J., Ross, Owen A., Klee, Eric W., Brazis, Paul W., Van Gerpen, Jay A., Atwal, P

Journal:

BMC Medical Genetics

Year:

2016

Language:

english

File:

PDF, 1.32 MB

english, 2016

75

The regulation of glycolysis in flying locusts ( Locusta migratoria )

MICHEL, ROMI, BEINHAUER, ILONA, KLEE, ANDREAS, WEGENER, GERHARD, NEWSHOLME, ERIC A.

Journal:

Biochemical Society Transactions

Year:

1986

Language:

english

File:

PDF, 338 KB

english, 1986

76

Pilot study of small bowel mucosal gene expression in patients with irritable bowel syndrome with diarrhea

Camilleri, Michael, Carlson, Paula, Valentin, Nelson, Acosta, Andres, O'Neill, Jessica, Eckert, Deborah, Dyer, Roy, Na, Jie, Klee, Eric W., Murray, Joseph A.

Journal:

American Journal of Physiology - Gastrointestinal and Liver Physiology

Year:

2016

Language:

english

File:

PDF, 941 KB

english, 2016

77

Patient Selection and Clinical Outcomes of Y90 in Hepatocellular Carcinoma

Wehrenberg-Klee, Eric, Gandhi, Ripal T., Ganguli, Suvranu

Journal:

Techniques in Vascular and Interventional Radiology

Year:

2019

Language:

english

File:

PDF, 273 KB

english, 2019

78

Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases

Blackburn, Patrick R., Zepeda-Mendoza, Cinthya J., Kruisselbrink, Teresa M., Schimmenti, Lisa A., García-Miñaur, Sixto, Palomares, María, Nevado, Julián, Mori, María A., Le Meur, Guylène, Klee, Eric W

Journal:

European Journal of Human Genetics

Year:

2019

Language:

english

File:

PDF, 1.78 MB

english, 2019

79

LeafCutterMD: an algorithm for outlier splicing detection in rare diseases

Jenkinson, Garrett, Li, Yang I, Basu, Shubham, Cousin, Margot A, Oliver, Gavin R, Klee, Eric W, Robinson, Peter

Journal:

Year:

2020

File:

PDF, 1.68 MB

2020

80

Transjugular Intrahepatic Portosystemic Shunt Placement for Portal Hypertension: Meta-Analysis of Safety and Efficacy of 8âmm vs. 10âmm Stents

Liu, Jiangtao, Wehrenberg-Klee, Eric Paul, Bethea, Emily D., Uppot, Raul N., Yamada, Kei, Ganguli, Suvranu, Qi, Xingshun

Journal:

Gastroenterology Research and Practice

Year:

2020

File:

PDF, 657 KB

2020

81

Impact of sample acquisition and linear amplification on gene expression profiling of lung adenocarcinoma: laser capture micro-dissection cell-sampling versus bulk tissue-sampling

Eric W Klee, Sibel Erdogan, Lori Tillmans, Farhad Kosari, Zhifu Sun, Dennis A Wigle, Ping Yang, Marie C Aubry, George Vasmatzis

Journal:

BMC Medical Genomics

Year:

2009

Language:

english

File:

PDF, 810 KB

english, 2009

82

Ethylene-Regulated Floral Volatile Synthesis in Petunia Corollas

Beverly A. Underwood, Denise M. Tieman, Kenichi Shibuya, Richard J. Dexter, Holly M. Loucas, Andrew J. Simkin, Charles A. Sims, Eric A. Schmelz, Harry J. Klee and David G. Clark

Journal:

PLANT PHYSIOLOGY

Year:

2005

Language:

english

File:

PDF, 1.89 MB

english, 2005

83

Genome-Wide Reverse Genetics Framework to Identify Novel Functions of the Vertebrate Secretome

Pickart, Michael A., Klee, Eric W., Nielsen, Aubrey L., Sivasubbu, Sridhar, Mendenhall, Eric M., Bill, Brent R., Chen, Eleanor, Eckfeldt, Craig E., Knowlton, Michelle, Robu, Mara E., Larson, Jon D., D

Journal:

Year:

2006

Language:

english

File:

PDF, 489 KB

english, 2006

84

Expansion of PURA -Related Phenotypes and Discovery of a Novel PURA Variant: A Case Report

Boczek, Nicole J., Macke, Erica L., Kemppainen, Jennifer, Klee, Eric W., Renaud, Deborah L., Gavrilova, Ralitza H.

Journal:

Child Neurology Open

Year:

2020

File:

PDF, 1.52 MB

2020

85

Susceptible to intolerance – a range of hormonal actions in a susceptible Arabidopsis pathogen response

Philip J. O'Donnell, Eric A. Schmelz, Patricia Moussatche, Steven T. Lund, Jeffery B. Jones, Harry J. Klee

Journal:

The Plant Journal

Year:

2003

Language:

english

File:

PDF, 357 KB

english, 2003

86

Involvement of gap junctional communication in secretion

Laetitia Michon, Rachel Nlend Nlend, Sabine Bavamian, Lorraine Bischoff, Nathalie Boucard, Dorothée Caille, José Cancela, Anne Charollais, Eric Charpantier, Philippe Klee, Manon Peyrou, Céline Populai

Journal:

Biochimica et Biophysica Acta (BBA) - Biomembranes

Year:

2005

Language:

english

File:

PDF, 714 KB

english, 2005

87

Connexin36 and pancreatic β-cell functions

Nlend, Rachel Nlend, Michon, Laetitia, Bavamian, Sabine, Boucard, Nathalie, Caille, Dorothée, Cancela, José, Charollais, Anne, Charpantier, Eric, Klee, Philippe, Peyrou, Manon, Populaire, Céline, Zuli

Journal:

Archives of Physiology and Biochemistry

Year:

2006

Language:

english

File:

PDF, 453 KB

english, 2006

88

A novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation

Blackburn, Patrick R., Williams, Monique, Cousin, Margot A., Boczek, Nicole J., Beek, Geoffrey J., Lomberk, Gwen A., Urrutia, Raul A., Babovic-Vuksanovic, Dusica, Klee, Eric W.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 835 KB

english, 2017

89

Pharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patients

Cousin, Margot A., Matey, Eric T., Blackburn, Patrick R., Boczek, Nicole J., McAllister, Tammy M., Kruisselbrink, Teresa M., Babovic-Vuksanovic, Dusica, Lazaridis, Konstantinos N., Klee, Eric W.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 1.17 MB

english, 2017

90

Clinical spectrum and genotype–phenotype associations of KCNA2-related encephalopathies

Masnada, Silvia, Hedrich, Ulrike B. S., Gardella, Elena, Schubert, Julian, Kaiwar, Charu, Klee, Eric W., Lanpher, Brendan C., Gavrilova, Ralitza H., Synofzik, Matthis, Bast, Thomas, Gorman, Kathleen,

Journal:

Year:

2017

Language:

english

File:

PDF, 1.66 MB

english, 2017

91

Co-occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a DNMT3A dosage effect?

Polonis, Katarzyna, Blackburn, Patrick R., Urrutia, Raul, Lomberk, Gwen A, Kruisselbrink, Teresa, Cousin, Margot A, Boczek, Nicole J, Hoppman, Nicole L, Babovic-Vuksanovic, Dusica, Klee, Eric W, Pichu

Journal:

Molecular Case Studies

Year:

2018

Language:

english

File:

PDF, 402 KB

english, 2018

92

Maple syrup urine disease: mechanisms and management

Blackburn, Patrick, Gass, Jennifer, Pinto e Vairo, Filippo, Farnham, Kristen, Atwal, Herjot, Macklin, Sarah, Klee, Eric, Atwal, Paldeep

Journal:

The Application of Clinical Genetics

Year:

2017

Language:

english

File:

PDF, 1.47 MB

english, 2017

93

Case-Based Learning in Translational Biomedical Research Education

Greenberg-Worisek, Alexandra J., Campbell, Katherine A., Klee, Eric W., Staff, Nathan P., Schimmenti, Lisa A., Weavers, Karen M., Ekker, Stephen C., Windebank, Anthony J.

Journal:

Academic Medicine

Year:

2019

File:

PDF, 75 KB

2019

94

Partial splenic embolization is superior to intravenous somatostatin for decreasing portal pressure in cirrhotic patients: a dynamic self-controlled cohort study

Liu, Jiangtao, Sun, Xuyang, Ganguli, Suvranu, Wehrenberg-Klee, Eric Paul, Bhan, Irun, Zhao, Yiming, Zhao, Li, Meng, Ke, Sun, Rui, Yu, Haotian, Sun, Gang

Journal:

Scandinavian Journal of Gastroenterology

Year:

2020

File:

PDF, 1.11 MB

2020

95

Coronatine and salicylic acid: the battle between Arabidopsis and Pseudomonas for phytohormone control

ANNA BLOCK, ERIC SCHMELZ, JEFFREY B. JONES, HARRY J. KLEE

Journal:

Molecular Plant Pathology

Year:

2005

Language:

english

File:

PDF, 184 KB

english, 2005

96

Properties of 6-phosphofructokinase from insect flight muscle

BEINHAUER, ILONA, KLEE, ANDREAS, SCHMIDT, HARALD, WEGENER, GERHARD, NEWSHOLME, ERIC A.

Journal:

Biochemical Society Transactions

Year:

1987

Language:

english

File:

PDF, 271 KB

english, 1987

97

Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals

Safarova, Maya S, Klee, Eric W, Baudhuin, Linnea M, Winkler, Erin M, Kluge, Michelle L, Bielinski, Suzette J, Olson, Janet E, Kullo, Iftikhar J

Journal:

European Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 326 KB

english, 2017

98

Molecular modeling of LDLR aids interpretation of genomic variants

Klee, Eric W., Zimmermann, Michael T.

Journal:

Journal of Molecular Medicine

Year:

2019

Language:

english

File:

PDF, 1.13 MB

english, 2019

99

Aetiology and outcomes of secondary myelofibrosis occurring in the context of inherited platelet disorders: A single institutional study of four patients

Saliba, Antoine N., Ferrer, Alejandro, Gangat, Naseema, Pruthi, Rajiv K., Tefferi, Ayalew, Higgins, Alexandra, Bezerra, Evandro D., Buglioni, Alessia, Salama, Mohamed E., Klee, Eric W., Pinto e Vairo,

Journal:

British Journal of Haematology

Year:

2020

File:

PDF, 602 KB

2020

100

Frequency of mitogen-activated protein kinase and phosphoinositide 3-kinase signaling pathway pathogenic alterations in EUS-FNA sampled malignant lymph nodes in rectal cancer with theranostic potential

Gleeson, Ferga C., Kipp, Benjamin R., Voss, Jesse S., Campion, Michael B., Minot, Douglas M., Tu, Zheng J., Klee, Eric W., Graham, Rondell P., Lazaridis, Konstantinos N., Henry, Michael R., Levy, Mich

Journal:

Gastrointestinal Endoscopy

Year:

2015

Language:

english

File:

PDF, 794 KB

english, 2015

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