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Manuscripts from 2021

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Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development, Matthew E R Butchbach

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A Diagnostic Dilemma of Antiglutamic Acid Decarboxylase 65 (Anti-GAD 65) and Mycoplasma Pneumoniae Antibodies in a Girl Presenting with Acute-Onset Obsessive-Compulsive Disorder., Cecilia Freeman, Antanoid J Langeveldt, and Robyn R Miller

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Phenotype Expression Variability in Children with GABRB3 Heterozygous Mutations., Abdulhafeez M. Khair and Alana E. Salvucci

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Targeted provider education and pre-visit planning increase rates of formal depression screening in childhood-onset SLE., Evan Mulvihill, Rebecca Furru, Alana Goldstein-Leever, Kyla Driest, Stephanie Lemle, Darby MacDonald, Emily Frost, and Vidya Sivaraman

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Automated Assessment of Thoracic-Abdominal Asynchrony in Patients with Morquio Syndrome., Madhavi V Ratnagiri, Yan Zhu, Tariq Rahman, Mary Theroux, Shunji Tomatsu, and Thomas H Shaffer

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Long-Term Safety of Growth Hormone Treatment in Childhood: Two Large Observational Studies: NordiNet IOS and ANSWER., Lars Sävendahl, Michel Polak, Philippe Backeljauw, Joanne C Blair, Bradley S Miller, Tilman R Rohrer, Anita Hokken-Koelega, Alberto Pietropoli, Nicky Kelepouris, and Judith L. Ross

Manuscripts from 2020

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Peripubertal serum concentrations of organochlorine pesticides and semen parameters in Russian young men., Ramy Abou Ghayda, Oleg Sergeyev, Jane S Burns, Paige L Williams, Mary M Lee, Susan A Korrick, Luidmila Smigulina, Yury Dikov, Russ Hauser, and Lidia Mínguez-Alarcón

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Pediatric resident knowledge, experience, comfort, and perceived competency in providing sibling psychosocial support., David Buchbinder, Sonam Sidhu, Melissa A. Alderfer, Anne Lown, Russ C. Kolarik, and Tommy Wang

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Consensus Parameter: Research Methodologies to Evaluate Neurodevelopmental Effects of Pubertal Suppression in Transgender Youth., Diane Chen, John F Strang, Victoria D Kolbuck, Stephen M Rosenthal, Kim Wallen, Deborah P Waber, Laurence Steinberg, Cheryl L Sisk, Judith Ross, Tomas Paus, Sven C Mueller, Margaret M McCarthy, Paul E Micevych, Carol L Martin, Baudewijntje P C Kreukels, Lauren Kenworthy, Megan M Herting, Agneta Herlitz, Ira R J Hebold Haraldsen, Ronald Dahl, Eveline A Crone, Gordon J Chelune, Sarah M Burke, Sheri A Berenbaum, Adriene M Beltz, Julie Bakker, Lise Eliot, Eric Vilain, Gregory L Wallace, Eric E Nelson, and Robert Garofalo

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Implementation of family psychosocial risk assessment in pediatric cancer with the Psychosocial Assessment Tool (PAT): study protocol for a cluster-randomized comparative effectiveness trial, Anne E Kazak, Janet A Deatrick, Michele A Scialla, Eric Sandler, Rebecca E Madden, and Lamia P Barakat

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Variation in early number skills and mathematics achievement: Implications from cognitive profiles of children with or without Turner syndrome, Sarah L Lukowski, Emily R Padrutt, Kyriakie Sarafoglou, Judith L. Ross, Jennifer R Law, Rachel E Olson, and Michèle M M Mazzocco

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Long-Term Follow-up Posthematopoietic Stem Cell Transplantation in a Japanese Patient with Type-VII Mucopolysaccharidosis, Kenji Orii, Yasuyuki Suzuki, Shunji Tomatsu, Tadao Orii, and Toshiyuki Fukao

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Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management., Kazuki Sawamoto, José Víctor Álvarez González, Matthew Piechnik, Francisco J. Otero, Maria L. Couce, Yasuyuki Suzuki, and Shunji Tomatsu

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Assessment of Activity of Daily Life in Mucopolysaccharidosis Type II Patients with Hematopoietic Stem Cell Transplantation., Yasuyuki Suzuki, Madeleine Taylor, Kenji Orii, Toshiyuki Fukao, Tadao Orii, and Shunji Tomatsu

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Hearing Loss in Mucopolysaccharidoses: Current Knowledge and Future Directions., Jeremy Wolfberg, Keerthana Chintalapati, Shunji Tomatsu, and Kyoko Nagao

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A novel noninvasive approach for evaluating work of breathing indices in a developmental rat model using respiratory inductance plethysmography., Yan Zhu, Zubair H. Aghai, Suhita G. Betal, Michael Favara, Gina Fong, Tariq Rahman, and Thomas H. Shaffer

Manuscripts from 2019

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Whole genome metagenomic analysis of the gut microbiome of differently fed infants identifies differences in microbial composition and functional genes, including an absent CRISPR/Cas9 gene in the formula-fed cohort, Matthew D. Di Guglielmo, Karl Franke, Courtney Cox, and Erin L. Crowgey

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Biomarkers in patients with mucopolysaccharidosis type II and IV., Honoka Fujitsuka, Kazuki Sawamoto, Hira Peracha, Robert W. Mason, William Mackenzie, Hironori Kobayashi, Seiji Yamaguchi, Yasuyuki Suzuki, Kenji Orii, Tadao Orii, Toshiyuki Fukao, and Shunji Tomatsu

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Histological Chorioamnionitis Induces Differential Gene Expression in Human Cord Blood Mononuclear Leukocytes from Term Neonates., Suhita Gayen Nee’ Betal, Swati Murthy, Michael Favara, Gina Fong, Joanna Chan, Sankar Addya, Thomas H. Shaffer, Jay S. Greenspan, Vineet Bhandari, Irfan Rahman, and Zubair H. Aghai

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Development of Substrate Degradation Enzyme Therapy for Mucopolysaccharidosis IVA Murine Model., Kazuki Sawamoto and Shunji Tomatsu

Manuscripts from 2018

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Early gestational mesenchymal stem cell secretome attenuates experimental bronchopulmonary dysplasia in part via exosome-associated factor TSG-6., Sushma Chaubey, Sam Thueson, Devasena Ponnalagu, Mohammad Afaque Alam, Ciprian P. Gheorghe, Zubair Aghai, Harpreet Singh, and Vineet Bhandari

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Fasoracetam in adolescents with ADHD and glutamatergic gene network variants disrupting mGluR neurotransmitter signaling., Josephine Elia, Grace Ungal, Charlly Kao, Alexander Ambrosini, Nilsa De Jesus-Rosario, Lene Larsen, Rosetta Chiavacci, Tiancheng Wang, Christine Kurian, Kanani Titchen, Brian Sykes, Sharon Hwang, Bhumi Kumar, Jacqueline Potts, Joshua Davis, Jeffrey Malatack, Emma Slattery, Ganesh Moorthy, Athena Zuppa, Andrew Weller, Enda Byrne, Yun R. Li, Walter K. Kraft, and Hakon Hakonarson

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Prenatal exposure to methadone or buprenorphine: Early childhood developmental outcomes., Karol Kaltenbach, Kevin E O'Grady, Sarah H. Heil, Amy L. Salisbury, Mara G. Coyle, Gabriele Fischer, Peter R. Martin, Susan Stine, and Hendrée E. Jones

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Feasibility of Using a Commercial Fitness Tracker as an Adjunct to Family-Based Weight Management Treatment: Pilot Randomized Trial., Thao-Ly Tam Phan, Nadia Barnini, Sherlly Xie, Angelica Martinez, Lauren Falini, Atiera Abatemarco, Maura Waldron, Jane M. Benton, Steve Frankenberry, Cassandra Coleman, Linhda Nguyen, Cindy Bo, George A. Datto, and Lloyd N. Werk

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Three years of growth hormone therapy in children born small for gestational age: results from the ANSWER Program, Robert Rapaport, Peter Lee, Judith L. Ross, Paul Saenger, Vlady Ostrow, and Giuseppe Piccoli

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An Inpatient Patient Safety Curriculum for Pediatric Residents., John Szymusiak, Michael D Fox, Catherine Polak, Kwonho Jeong, Doris Rubio, Stephanie Dewar, Andrew Urbach, and Alda Maria Gonzaga

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Extracellular Interactions between Fibulins and Transforming Growth Factor (TGF)-β in Physiological and Pathological Conditions., Takeshi Tsuda

Manuscripts from 2017

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Lung Rest During Extracorporeal Membrane Oxygenation for Neonatal Respiratory Failure-Practice Variations and Outcomes., Deepthi Alapati, Zubair H. Aghai, Jobayer Hossain, Daniel R Dirnberger, Mark T. Ogino, and Thomas H. Shaffer

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Monitoring and management of hypertension with obesity in adolescents., Bonita Falkner

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The effects of C5-substituted 2,4-diaminoquinazolines on selected transcript expression in spinal muscular atrophy cells., Cinsley Gentillon, Andrew J Connell, Ryan W Kirk, and Matthew E R Butchbach

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Professional practices, training, and funding mechanisms: A survey of pediatric primary care psychologists, Kathryn W. Hoffses, Andrew R. Riley, Kathryn M. Menousek, Kriston B. Schellinger, Allison O. Grennan, Chrissy Cammarata, and Jason L. Steadman

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Spotlight on the integrated primary care special interest group, Kathryn W. Hoffses, Andrew R. Riley, Kathryn M. Menousek, Kriston B. Schellinger, Allison O. Grennan, Chrissy Cammarata, and Jason L. Steadman

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Characterization of Pulmonary Metastases in Children With Hepatoblastoma Treated on Children's Oncology Group Protocol AHEP0731 (The Treatment of Children With All Stages of Hepatoblastoma): A Report From the Children's Oncology Group., Allison F. O'Neill, Alexander J. Towbin, Mark D. Krailo, Caihong Xia, Yun Gao, M. Beth McCarville, Rebecka L. Meyers, Eugene D. McGahren, Greg M. Tiao, Stephen P. Dunn, Max R. Langham, Christopher B. Weldon, Milton J. Finegold, Sarangarajan Ranganathan, Wayne L. Furman, Marcio Malogolowkin, Carlos Rodriguez-Galindo, and Howard M. Katzenstein

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Development of Bone Targeting Drugs., Molly Stapleton, Kazuki Sawamoto, Carlos J. Alméciga-Díaz, William G. Mackenzie, Robert W. Mason, Tadao Orii, and Shunji Tomatsu

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Hyperoxia causes miR-34a-mediated injury via angiopoietin-1 in neonatal lungs., Mansoor Syed, Pragnya Das, Aishwarya Pawar, Zubair H. Aghai, Anu Kaskinen, Zhen W. Zhuang, Namasivayam Ambalavanan, Gloria Pryhuber, Sture Andersson, and Vineet Bhandari

Manuscripts from 2016

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E-cigarette use among women of reproductive age: Impulsivity, cigarette smoking status, and other risk factors., Laura L. Chivers, Dennis J. Hand, Jeff S. Priest, and Stephen T. Higgins

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Effect of the Butyrate Prodrug Pivaloyloxymethyl Butyrate (AN9) on a Mouse Model for Spinal Muscular Atrophy., Jonathan D. Edwards and Matthew E.R. Butchbach

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The Airway Microbiome at Birth., Charitharth Vivek Lal, Colm Travers, Zubair H. Aghai, Peter Eipers, Tamas Jilling, Brian Halloran, Waldemar A. Carlo, Jordan Keeley, Gabriel Rezonzew, Ranjit Kumar, Casey Morrow, Vineet Bhandari, and Namasivayam Ambalavanan

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Identification of early gene expression changes in primary cultured neurons treated with topoisomerase I poisons., Sharyn L. Rossi, Casey J. Lumpkin, Ashlee W. Harris, Jennifer Holbrook, Cinsley Gentillon, Suzanne M. McCahan, Wenlan Wang, and Matthew E.R. Butchbach

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Evidence-based decision support for pediatric rheumatology reduces diagnostic errors., Michael M. Segal, Balu Athreya, Mary Beth F. Son, Irit Tirosh, Jonathan S. Hausmann, Elizabeth YN. Ang, David Zurakowski, Lynn K. Feldman, and Robert P. Sundel

Manuscripts from 2015

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Social competence in pediatric brain tumor survivors: application of a model from social neuroscience and developmental psychology., Matthew C Hocking, Mark McCurdy, Elise Turner, Anne E Kazak, Robert B Noll, Peter Phillips, and Lamia P Barakat

Manuscripts from 2014

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Anakinra and related drugs targeting interleukin-1 in the treatment of cryopyrin-associated periodic syndromes, Inessa Bachove and Christopher Chang

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Teaching health advocacy to medical students: a comparison study., Julia Belkowitz, Lee M Sanders, Chi Zhang, Gauri Agarwal, Daniel Lichtstein, Alex J Mechaber, and Esther K Chung

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A double-blind randomized trial of fish oil to lower triglycerides and improve cardiometabolic risk in adolescents., Samuel S. Gidding, Carol Prospero, Jobayer Hossain, Frances Zappalla, Prabhakaran Babu Balagopal, Bonita Falkner, and Peter Kwiterovich

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Brain morphology in children with 47, XYY syndrome: a voxel- and surface-based morphometric study., J-F Lepage, D S Hong, M Raman, M Marzelli, D P Roeltgen, Song Lai, Judith L. Ross, and A L Reiss

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Systems Biology Investigation of cAMP Modulation to Increase SMN Levels for the Treatment of Spinal Muscular Atrophy., Sean G Mack, Daniel J Cook, Prasad Dhurjati, and Matthew E R Butchbach

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Transcriptome profiling of spinal muscular atrophy motor neurons derived from mouse embryonic stem cells., Miho Maeda, Ashlee W Harris, Brewster F Kingham, Casey J Lumpkin, Lynn M Opdenaker, Suzanne M McCahan, Wenlan Wang, and Matthew E R Butchbach

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Common and specific impairments in attention functioning in girls with chromosome 22q11.2 deletion, fragile X or Turner syndromes., Andrea I Quintero, Elliott A Beaton, Danielle J Harvey, Judith L. Ross, and Tony J Simon

Manuscripts from 2013

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The NordiNet® International Outcome Study and NovoNet® ANSWER Program®: rationale, design, and methodology of two international pharmacoepidemiological registry-based studies monitoring long-term clinical and safety outcomes of growth hormone therapy (Norditropin®)., Charlotte Höybye, Lars Sävendahl, Henrik Thybo Christesen, Peter Lee, Birgitte Tønnes Pedersen, Michael Schlumpf, John Germak, and Judith Ross

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Development of frataxin gene expression measures for the evaluation of experimental treatments in Friedreich's ataxia., Heather L Plasterer, Eric C Deutsch, Matthew Belmonte, Elizabeth Egan, David R Lynch, and James R Rusche

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Phenotypic parameters predict time to normalization in infants with hypogammaglobulinemia., Robert C. Van Winkle, Walter W. Hauck, and Stephen J. McGeady

Manuscripts from 2012

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The effects of gas humidification with high-flow nasal cannula on cultured human airway epithelial cells., Aaron Chidekel, Yan Zhu, Jordan Wang, John J Mosko, Elena Rodriguez, and Thomas H Shaffer

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The differential effects of maternal age, race/ethnicity and insurance on neonatal intensive care unit admission rates., Beatriz E de Jongh, Robert Locke, David A Paul, and Matthew Hoffman

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Effect of 4 years of growth hormone therapy in children with Noonan syndrome in the American Norditropin Studies: Web-Enabled Research (ANSWER) Program® registry., Peter A Lee, Judith Ross, John A Germak, and Robert Gut

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Comparison of response to 2-years' growth hormone treatment in children with isolated growth hormone deficiency, born small for gestational age, idiopathic short stature, or multiple pituitary hormone deficiency: combined results from two large observational studies., Peter A Lee, Lars Sävendahl, Isabelle Oliver, Maithé Tauber, Oliver Blankenstein, Judith Ross, Marta Snajderova, Viatcheslav Rakov, Birgitte Tønnes Pedersen, and Henrik Thybo Christesen

Manuscripts from 2011

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The pulmonologist's role in caring for pregnant women with regard to the reproductive risks of diagnostic radiological studies or radiation therapy., Robert Brent

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Evaluation of the reproductive and developmental risks of caffeine., Robert L Brent, Mildred S Christian, and Robert M Diener

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In the Field With Israelis Prepping for Disaster, John R. Cohn, MD

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An evaluation of hospital breastfeeding policies in the Philadelphia metropolitan area 1994-2009: a comparison with the baby-friendly hospital initiative ten steps., Andrea Crivelli-Kovach and Esther K Chung

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Childhood obesity and blood pressure: back to the future?, Bonita Falkner and Samuel Gidding

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The challenge of communicating cardiovascular risk information to our patients., Samuel S Gidding

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Effectiveness of a smoking cessation intervention for methadone-maintained women: a comparison of pregnant and parenting women., Amber M Holbrook and Karol A Kaltenbach

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Identification of factors associated with good response to growth hormone therapy in children with short stature: results from the ANSWER Program®., Peter A Lee, John Germak, Robert Gut, Naum Khutoryansky, and Judith Ross

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Does treatment of premature labor with terbutaline increase the risk of autism spectrum disorders?, Patricia Rodier, Richard K Miller, and Robert L Brent

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Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL-1 blockade., Silvia Stojanov, Sivia Lapidus, Puja Chitkara, Henry Feder, Juan C Salazar, Thomas A Fleisher, Margaret R Brown, Kathryn M Edwards, Michael M Ward, Robert A Colbert, Hong-Wei Sun, Geryl M Wood, Beverly K Barham, Anne Jones, Ivona Aksentijevich, Raphaela Goldbach-Mansky, Balu Athreya, Karyl S Barron, and Daniel L Kastner

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Proteomic assessment of a cell model of spinal muscular atrophy., Chia-Yen Wu, Dosh Whye, Lisa Glazewski, Leila Choe, Douglas Kerr, Kelvin H Lee, Robert W Mason, and Wenlan Wang

Manuscripts from 2010

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Teratology Primer-2nd Edition (7/9/2010), Sura Alwan; Steven B. Bleyl; Robert L. Brent; Christina D. Chambers; George P. Daston; Elaine M. Faustman; Richard H. Finnell; F. Clarke Fraser; Jan M. Freidman; Adriane Fugh-Berman; John M. Graham, Jr.; Barbara F. Hales; Deborah K. Hansen; Lewis B. Holmes; Ronald D. Hood; Robert J. Kavlock; Thomas B. Knudsen; Joseph Lary; Donald R. Mattison; Richard K. Miller; James L. Mills; Janine E. Polifka; Sonja A. Rasmussen; Bernard Robaire; John M. Rogers; Gary C. Schoenwolf; Anthony R. Scialli; Gary M. Shaw; Amar V. Singh; William Slikker, Jr.; Ann P. Streissguth; Melissa S. Tassinari; Janet Uriu-Adams; Charles V. Vorhees; and Elora J. Weringer

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A Behavioral Approach to Pediatric Drowning Prevention 1966 to 2010, Harvey Barnett, Ph.D.

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Reproductive toxicology, Robert L. Brent

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The perils of the imperfect expectation of the perfect baby., Frank A Chervenak, Laurence B McCullough, and Robert L Brent

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Familial Hypercholesterolemia: A Decade of Progress, Samuel S. Gidding, MD

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A case study in unethical transgressive bioethics: "Letter of concern from bioethicists" about the prenatal administration of dexamethasone., Laurence B McCullough, Frank A Chervenak, Robert L Brent, and Benjamin Hippen

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The intellectual and moral integrity of bioethics: response to commentaries on "A case study in unethical transgressive bioethics: 'Letter of concern from bioethicists' about the prenatal administration of dexamethasone"., Laurence B McCullough, Frank A Chervenak, Robert L Brent, and Benjamin Hippen

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Reduced mortality and increased BPD with histological chorioamnionitis and leukocytosis in very-low-birth-weight infants., David A. Paul, MD; Kelly Zook, MD; Amy Mackley, RNC; and Robert G. Locke, DO

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Factors influencing the one- and two-year growth response in children treated with growth hormone: analysis from an observational study., Judith Ross, Peter A Lee, Robert Gut, and John Germak

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Effect of Visual Media Use on School Performance: A Prospective Study, Iman Sharif, MD, MPH; Thomas A. Wills, PhD; and James D. Sargent, MD

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An updated history of the Teratology Society., Thomas H Shepard, Mason Barr, Robert L Brent, Andrew Hendrickx, Devendra Kochhar, Godfrey Oakley, William J Scott, and John M Rogers

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Cultured human airway epithelial cells (calu-3): a model of human respiratory function, structure, and inflammatory responses., Yan Zhu, Aaron Chidekel, and Thomas H Shaffer

Documents from 2009

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Saving lives and changing family histories: Appropriate counseling of pregnant women and men and women of reproductive age, concerning the risk of radiation exposures during and before pregnancy, Robert L. Brent

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State infant mortality: an ecologic study to determine modifiable risks and adjusted infant mortality rates., David A. Paul. MD; Amy Mackley, RNC; Robert G. Locke, DO; John L. Stefano, MD; and Charlan Kroelinger, PhD

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Increased susceptibility of spinal muscular atrophy fibroblasts to camptothecin is p53-independent., Chia-Yen Wu, Ilsa Gómez-Curet, Vicky L Funanage, Mena Scavina, and Wenlan Wang

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Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report., David J Wu, Nicholas J Wang, Jennette Driscoll, Naghmeh Dorrani, Dahai Liu, Marian Sigman, and N Carolyn Schanen

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Hematologic effects of placental pathology on very low birthweight infants born to mothers with preeclampsia., Kelly J. Zook, MD; Amy B. Mackley, RNC; Jennifer Kern; and David A. Paul. MD

Manuscripts from 2008

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Phosphatidylserine-positive erythrocytes bind to immobilized and soluble thrombospondin-1 via its heparin-binding domain, Suhita G. Betal and Yamaja Setty

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Bio-monitoring the elimination of folic acid-preventable Spina Bifida and anencephaly, Robert L. Brent

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Book Review: Drugs during pregnancy and lactation: Treatment options and risk assessment, Robert L. Brent

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Environmental causes of human congenital malformations: The physician's role in dealing with these complex clinical problems caused by environmental and genetic factors., Robert L. Brent

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Guest Perspective - Dr. Robert L. Brent, Robert L. Brent

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Continuous source of care among young underserved children: associated characteristics and use of recommended parenting practices., Esther K Chung, Leny Mathew, Kelly F McCollum, Irma T Elo, and Jennifer F Culhane

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Infant mortality in Delaware: the need to improve maternal health and reduce premature births., David A. Paul. MD

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Heme induces endothelial tissue factor expression: Potential role in hemostatic activation in patients with hemolytic anemia, Yamaja Setty, Suhita G. Betal, Jie Zhang, and Marie J. Stuart

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Atypical onset as predictor of poor outcome in Pediatric Systemic Lupus Erythematosus (pSLE), A Taddio, E Rossetto, L Lepore, A C. Brescia, C Bracaglia, S Caminiti, E Cortis, D Rigante, A Stabile, M Montico, L Ronfani, and C D. Rosé

Documents from 2007

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Commentary: The Daubert Decision, Robert L. Brent

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Developmental toxicology drugs, and fetal teratogenesis, Robert L. Brent

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How does the physician avoid prescribong drugs and medical procedures that have reproductive and developmental risks?, Robert L. Brent

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Letter to the Editor: Further efforts to redce the incidence of neural tube defects, Robert L. Brent

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Robert Warwick Miller: in memoriam., Robert L. Brent

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The folate debate., Robert L. Brent

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Triumph and/or tragedy: The present food and drug administration program of enriching grains with folic acid., Robert L. Brent

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Antenatal risk factors, cytokines and the development of atopic disease in early childhood, Esther K. Chung, Rachel L. Miller, Michael T. Wilson, Stephen J. McGeady, and Jennifer F. Culhane