Gregory M. Enns : rechercher sur Z-Library

Carol Enns, David Gregory

Année:

2010

Langue:

english

Fichier:

PDF, 58 KB

english, 2010

Lamentation and loss: expressions of caring by contemporary surgical nurses

Journal:

Journal of Advanced Nursing

Année:

2007

Langue:

english

Fichier:

PDF, 461 KB

english, 2007

Long-term outcome following pediatric liver transplantation for metabolic disorders

Terrell Stevenson, Maria T. Millan, Karen Wayman, William E. Berquist, Minnie Sarwal, Emily E. Johnston, Carlos O. Esquivel, Gregory M. Enns

Journal:

Pediatric Transplantation

Année:

2010

Langue:

english

Fichier:

PDF, 517 KB

english, 2010

46. Molecular Characterization of The Myopathic Form of Mitochondrial DNA Depletion Syndrome

Shao-Wen Weng, Daniel R. Boué, Brenda L. Wong, Lin-Ya Tang, Jerry R. Mendell, Deborah A. Perry, Zarife Sahenk, Gregory M. Enns, Lee-Jun C. Wong

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 48 KB

english, 2009

Leigh syndrome caused by a novel m.4296G > A mutation in mitochondrial tRNA isoleucine

Rachel Cox, Julia Platt, Li Chieh Chen, Sha Tang, Lee-Jun Wong, Gregory M. Enns

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 395 KB

english, 2012

Improved redox status after liver transplantation in a patient with MMA mut0 subtype; functional evidence for EPI-743 therapy

Anna-Kaisa Niemi, Tereza Moore, Tina Cowan, Viktoria Kheifets, Gregory M. Enns

Journal:

Parikh, Sumit, Goldstein, Amy, Koenig, Mary Kay, Scaglia, Fernando, Enns, Gregory M, Saneto, Russell

Année:

2012

Langue:

english

Fichier:

PDF, 60 KB

english, 2012

Practice patterns of mitochondrial disease physicians in North America. Part 1: Diagnostic and clinical challenges

Journal:

Khouzam, Amirah, Platt, Julia, Cox, Rachel, Enns, Gregory M.

Année:

2014

Langue:

english

Fichier:

PDF, 698 KB

english, 2014

Novel c.316G>C mutation in PDHA1 causes PDH deficiency

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 55 KB

english, 2013

Severe multi-systemic presentation of COX10 deficiency

Wilnai, Yael, Cox, Rachel, Bai, Renkui, Enns, Gregory M.

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 57 KB

english, 2013

Whole exome sequencing and whole mitochondrial genome sequencing for molecular diagnosis of mitochondrial disorders: Lessons from 865 Cases

Bai, Renkui, Balog, Amanda, Higgs, Jaimie, Retterer, Kyle, Arjona, Dolores, Juusola, Jane, Vitazka, Patrik, Suchy, Sharon, Enns, Gregory M., Haas, Richard, Goldstein, Amy, Tarnopolsky, Mark, Parikh, S

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 52 KB

english, 2015

Trial-ready drugs: What is in the pipeline for mitochondrial diseases?

Enns, Gregory M.

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 57 KB

english, 2015

Characterizing the human mitochondrial proteome using a genome-wide functional linkage network

Zarkoob, Hadi, Shen, Peidong, Enns, Gregory M., Sabatti, Chiara, Scharfe, Curt

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 45 KB

english, 2015

Degree of Glutathione Deficiency and Redox Imbalance Depend on Subtype of Mitochondrial Disease and Clinical Status

Enns, Gregory M., Moore, Tereza, Le, Anthony, Atkuri, Kondala, Shah, Monisha K., Cusmano-Ozog, Kristina, Niemi, Anna-Kaisa, Cowan, Tina M., Ling, Feng

Journal:

PLoS ONE

Année:

2014

Langue:

english

Fichier:

PDF, 393 KB

english, 2014

Assessing the strength of evidence for genes implicated in fatty acid oxidation disorders using the ClinGen clinical validity framework

McGlaughon, Jennifer L., Pasquali, Marzia, Wallace, Kathleen, Ross, Justyne, Senol-Cosar, Ozlem, Shen, Wei, Weaver, Meredith A., Feigenbaum, Annette, Lyon, Elaine, Enns, Gregory M., Mao, Rong, Baudet,

Journal:

International Journal of Neonatal Screening

Année:

2019

Langue:

english

Fichier:

PDF, 829 KB

english, 2019

Reducing False-Positive Results in Newborn Screening Using Machine Learning

Peng, Gang, Tang, Yishuo, Cowan, Tina M., Enns, Gregory M., Zhao, Hongyu, Scharfe, Curt

Journal:

Année:

2020

Langue:

english

Fichier:

PDF, 617 KB

english, 2020

Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: A retrospective study of 60 patients and literature review

Enns, Gregory M., Cox, Victoria A., Goldstein, Ruth B., Gibbs, David L., Harrison, Michael R., Golabi, Mahin

Journal:

Ewart-Toland, Amanda, Enns, Gregory M., Cox, Victoria A., Mohan, G. Chandra, Rosenthal, Philip, Golabi, Mahin

Année:

1998

Langue:

english

Fichier:

PDF, 95 KB

english, 1998

Severe congenital anomalies requiring transplantation in children with Kabuki syndrome

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 284 KB

english, 1998

Gastrointestinal tract anomalies in velocardiofacial syndrome

Enns, Gregory M., Cox, Victoria A., Golabi, Mahin, Immken, LaDonna, Fisher, Jamie, Curry, Cynthia

Journal:

Enns, Gregory M., Roeder, Elizabeth, Chan, Ruth T., Ali-Khan Catts, Zohra, Cox, Victoria A., Golabi, Mahin

Année:

1999

Langue:

english

Fichier:

PDF, 27 KB

english, 1999

Apparent cyclophosphamide (cytoxan) embryopathy: A distinct phenotype?

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 208 KB

english, 1999

Methotrexate/misoprostol embryopathy: Report of four cases resulting from failed medical abortion

Margaret P. Adam, Melanie A. Manning, Anita E. Beck, Andrea Kwan, Gregory M. Enns, Carol Clericuzio, H. Eugene Hoyme

Journal:

Kelly M. Chen, Athena M. Cherry, Jin S. Hahn, Gregory M. Enns

Année:

2003

Langue:

english

Fichier:

PDF, 243 KB

english, 2003

Mild developmental delay in terminal chromosome 6p deletion

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 151 KB

english, 2004

Genitopatellar syndrome: Expanding the phenotype and excluding mutations in LMX1B and TBX4

Omar A. Abdul-Rahman, Trang H. La, Andrea Kwan, Silke Schlaubitz, Greg S. Barsh, Gregory M. Enns, Louanne Hudgins

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 175 KB

english, 2006

Progressive cerebral vascular degeneration with mitochondrial encephalopathy

Nicola Longo, Iris Schrijver, Hannes Vogel, Lynn M. Pique, Tina M. Cowan, Marzia Pasquali, Gary K. Steinberg, Gary L. Hedlund, Sharon L. Ernst, Renata C. Gallagher, Gregory M. Enns

Journal:

Bioorganic & Medicinal Chemistry Letters

Année:

2008

Langue:

english

Fichier:

PDF, 297 KB

english, 2008

α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging

William D. Shrader, Akiko Amagata, Adam Barnes, Gregory M. Enns, Andrew Hinman, Orion Jankowski, Viktoria Kheifets, Ryo Komatsuzaki, Edgar Lee, Paul Mollard, Katsuyuki Murase, Alfredo A. Sadun, Martin

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 731 KB

english, 2011

Length of prenatal exposure to selective serotonin reuptake inhibitor (SSRI) antidepressants: effects on neonatal adaptation and psychomotor development

Regina C. Casper, Allyson A. Gilles, Barry E. Fleisher, Joan Baran, Gregory Enns, Laura C. Lazzeroni

Journal:

Psychopharmacology

Année:

2011

Langue:

english

Fichier:

PDF, 219 KB

english, 2011

Assignment of the gene for human melanoma-associated antigen p97 to chromosome 3

Plowman, Gregory D., Brown, Joseph P., Enns, Carolin A., Schröder, Jim, Nikinmaa, Barbro, Sussman, Howard H., Hellström, Karl Erik, Hellström, Ingegerd

Journal:

Nature

Année:

1983

Fichier:

PDF, 402 KB

1983

Polls and Elections Using Approval of the President's Handling of the Economy to Understand Who Polarizes and Why

GREGORY E. MCAVOY, PETER K. ENNS

Journal:

Presidential Studies Quarterly

Année:

2010

Langue:

english

Fichier:

PDF, 209 KB

english, 2010

Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome

Philippe M. Campeau, Jaeseung C. Kim, James T. Lu, Jeremy A. Schwartzentruber, Omar A. Abdul-Rahman, Silke Schlaubitz, David M. Murdock, Ming-Ming Jiang, Edward J. Lammer, Gregory M. Enns, William J.

Journal:

The American Journal of Human Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 1.10 MB

english, 2012

Selective adsorption of multivalent ions into TiC-derived nanoporous carbon

Sergey Sigalov, Mikhael D. Levi, Gregory Salitra, Doron Aurbach, Alar Jänes, Enn Lust, Ion C. Halalay

Journal:

Carbon

Année:

2012

Langue:

english

Fichier:

PDF, 1.79 MB

english, 2012

The relationship between migraine and mental disorders in a population-based sample

Gregory E. Ratcliffe, Murray W. Enns, Frank Jacobi, Shay-Lee Belik, Jitender Sareen

Journal:

General Hospital Psychiatry

Année:

2009

Langue:

english

Fichier:

PDF, 148 KB

english, 2009

Clinical and Molecular Heterogeneity in Patients with the CblD Inborn Error of Cobalamin Metabolism

Isabelle R. Miousse, David Watkins, David Coelho, Tony Rupar, Eric A. Crombez, Eric Vilain, Jonathan A. Bernstein, Tina Cowan, Christopher Lee-Messer, Gregory M. Enns, Brian Fowler, David S. Rosenblat

Journal:

The Journal of Pediatrics

Année:

2009

Langue:

english

Fichier:

PDF, 396 KB

english, 2009

Neurologic Damage and Neurocognitive Dysfunction in Urea Cycle Disorders

Gregory M. Enns

Journal:

Seminars in Pediatric Neurology

Année:

2008

Langue:

english

Fichier:

PDF, 164 KB

english, 2008

Propionic acidemia: To liver transplant or not to liver transplant?

Kimberly A. Chapman, Marshall L. Summar, Gregory M. Enns

Journal:

Pediatric Transplantation

Année:

2012

Langue:

english

Fichier:

PDF, 52 KB

english, 2012

Atypical amyoplasia congenita in an infant with Leigh syndrome: A mitochondrial cause of severe contractures?

Yael Wilnai, Laurie H. Seaver, Gregory M. Enns

Journal:

Vibeke Westphal, Gregory M. Enns, Marjorie F. McCracken, Hudson H. Freeze

Année:

2012

Langue:

english

Fichier:

PDF, 114 KB

english, 2012

Functional Analysis of Novel Mutations in a Congenital Disorder of Glycosylation Ia Patient with Mixed Asian Ancestry

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 130 KB

english, 2001

Early Neonatal Diagnosis of Long-Chain 3-Hydroxyacyl Coenzyme A Dehydrogenase and Mitochondrial Trifunctional Protein Deficiencies

Susan R. Hintz, Dietrich Matern, Arnold Strauss, Michael J. Bennett, H.Eugene Hoyme, Susan Schelley, Joyce Kobori, Christopher Colby, Norman L. Lehman, Gregory M. Enns

Journal:

Benjamin N.R. Cheyette, Sarah N.R. Cheyette, Kristina Cusmano-Ozog, Gregory M. Enns

Année:

2002

Langue:

english

Fichier:

PDF, 244 KB

english, 2002

Dopa-Responsive Dystonia Presenting as Delayed and Awkward Gait

Journal:

Pediatric Neurology

Année:

2008

Langue:

english

Fichier:

PDF, 248 KB

english, 2008

The contribution of mitochondria to common disorders

Gregory M Enns

Journal:

Renata C. Gallagher, Tina M. Cowan, Stephen I. Goodman, Gregory M. Enns

Année:

2003

Langue:

english

Fichier:

PDF, 218 KB

english, 2003

Glutaryl-CoA dehydrogenase deficiency and newborn screening: Retrospective analysis of a low excretor provides further evidence that some cases may be missed

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 155 KB

english, 2005

Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load

Gregory M. Enns, Ren-Kui Bai, Anita E. Beck, Lee-Jun Wong

Journal:

Kristina Cusmano-Ozog, Hannes Vogel, Tina Cowan, Gregory Enns

Année:

2006

Langue:

english

Fichier:

PDF, 192 KB

english, 2006

19. An unusual case of Pompe disease presenting as muscular dystrophy

Journal:

Gregory M. Enns, Maria T. Millan

Année:

2008

Langue:

english

Fichier:

PDF, 44 KB

english, 2008

Cell-based therapies for metabolic liver disease

Journal:

Francjan J. van Spronsen, Gregory M. Enns

Année:

2008

Langue:

english

Fichier:

PDF, 227 KB

english, 2008

Future treatment strategies in phenylketonuria

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 310 KB

english, 2010

Nitrogen sparing therapy revisited 2009

Gregory M. Enns

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 288 KB

english, 2010

Initial experience in the treatment of inherited mitochondrial disease with EPI-743

Gregory M. Enns, Stephen L. Kinsman, Susan L. Perlman, Kenneth M. Spicer, Jose E. Abdenur, Bruce H. Cohen, Akiko Amagata, Adam Barnes, Viktoria Kheifets, William D. Shrader, Martin Thoolen, Francis Bl

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 3.06 MB

english, 2012

Initial Human Experience with SBC-102, a Recombinant Enzyme Replacement Therapy in Adults with Lysosomal Acid Lipase Deficiency

Gregory Enns, Manisha Balwani, Patrick Deegan, V. ra Malinová, Tomá Honzík, Reena Sharma, Vassili Valayannopoulos, Ed Wraith, Eugene Schneider, Jennifer Burg, Anthony Quinn

Journal:

The Journal of Pediatrics

Année:

2012

Langue:

english

Fichier:

PDF, 60 KB

english, 2012

Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Gregory M. Enns, Michael J. Bennett, Charles L. Hoppel, Stephen I. Goodman, Kara Weisiger, Carol Ohnstad, Mahin Golabi, Seymour Packman

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 32 KB

english, 2000

Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins

Gregory M. Enns, Robert D. Steiner, Neil Buist, Charles Cowan, Kathleen A. Leppig, Marjorie F. McCracken, Vibeke Westphal, Hudson H. Freeze, John F. O'Brien, Jaak Jaeken, Gert Matthijs, Sarina Behera,

Journal:

The Journal of Pediatrics

Année:

2002

Langue:

english

Fichier:

PDF, 122 KB

english, 2002

Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders

Cui, Hong, Li, Fangyuan, Chen, David, Wang, Guoli, Truong, Cavatina K., Enns, Gregory M., Graham, Brett, Milone, Margherita, Landsverk, Megan L., Wang, Jing, Zhang, Wei, Wong, Lee-Jun C.

Journal:

Genetics in Medicine

Année:

2013

Langue:

english

Fichier:

PDF, 1.25 MB

english, 2013

Brain uptake of Tc99m-HMPAO correlates with clinical response to the novel redox modulating agent EPI-743 in patients with mitochondrial disease

Francis G. Blankenberg, Stephen L. Kinsman, Bruce H. Cohen, Michael L. Goris, Kenneth M. Spicer, Susan L. Perlman, Elliot J. Krane, Viktoria Kheifets, Martin Thoolen, Guy Miller, Gregory M. Enns

Journal: