Publications by authors named "Diana Rodriguez"

100Publications

PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.

Eur J Med Genet 2020 Aug 8:104033. Epub 2020 Aug 8.

Centre de Référence des Surdités Génétiques, Institut Imagine, Hôpital Necker-Enfants Malades, AP-HP.Centre, Paris, France; Fédération de Génétique, Hôpital Necker-Enfants Malades, AP-HP.Centre, Paris, France; Laboratoire d'Embryologie et de Génétique des Malformations Congénitales, INSERM UMR 1163, Institut Imagine, Université Paris Descartes, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.104033DOI Listing
August 2020

Application of Artificial Intelligence in Pharmaceutical and Biomedical Studies.

Curr Pharm Des 2020 05 15. Epub 2020 May 15.

Department of Computer Science and Information Technology, Guru Ghashidas Vishwavidyalaya (A Central University), Bilaspur, Chhattisgarh, India.

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http://dx.doi.org/10.2174/1381612826666200515131245DOI Listing
May 2020

Case report of COVID-19 in a kidney transplant recipient: Does immunosuppression alter the clinical presentation?

Am J Transplant 2020 Jul 9;20(7):1875-1878. Epub 2020 Apr 9.

Department of Nephrology and Kidney Transplantation, Hospital Clinic Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1111/ajt.15874DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7228209PMC
July 2020

6-Arylmethylidene Penicillin-Based Sulfone Inhibitors for Repurposing Antibiotic Efficiency in Priority Pathogens.

J Med Chem 2020 Apr 31;63(7):3737-3755. Epub 2020 Mar 31.

Centro Singular de Investigación en Química Biolóxica e Materiais Moleculares (CiQUS), Departamento de Química Orgánica, Universidade de Santiago de Compostela, Jenaro de la Fuente s/n, 15782 Santiago de Compostela, Spain.

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http://dx.doi.org/10.1021/acs.jmedchem.0c00127DOI Listing
April 2020

Clinical Management of Children and Adolescents with Neurofibromatosis Type 1 Like Phenotypes and Complex Behavioural Manifestations: A Multidisciplinary and Dimensional Approach.

Case Rep Psychiatry 2019 31;2019:4764031. Epub 2019 Dec 31.

Department of Child and Adolescent Psychiatry, Reference Center for Rare Psychiatric Diseases, APHP, Groupe Hospitalier Pitié-Salpêtrière, Université Sorbonne, Paris, France.

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http://dx.doi.org/10.1155/2019/4764031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7011498PMC
December 2019

Technetium retention by gamma alumina nanoparticles and the effect of sorbed Fe.

J Hazard Mater 2020 04 9;388:122066. Epub 2020 Jan 9.

Helmholtz-Zentrum Dresden - Rossendorf (HZDR), Institute of Resource Ecology, Bautzner Landstrasse 400, 01328, Dresden, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jhazmat.2020.122066DOI Listing
April 2020

New Insights into Tc(VII) Removal by Pyrite: A Spectroscopic Approach.

Environ Sci Technol 2020 03 10;54(5):2678-2687. Epub 2020 Feb 10.

Institute of Resource Ecology, Helmholtz-Zentrum Dresden - Rossendorf, Bautzner Landstraße 400, 01328 Dresden, Germany.

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http://dx.doi.org/10.1021/acs.est.9b05341DOI Listing
March 2020

Addressing Severe Mental Illness Rehabilitation in Colombia, Costa Rica, and Peru.

Psychiatr Serv 2020 04 3;71(4):378-384. Epub 2020 Jan 3.

Department of Psychiatry, Dartmouth-Hitchcock Medical Center, Lebanon, New Hampshire (Cubillos); Department of Behavioral and Community Health, University of Maryland School of Public Health, College Park (Muñoz); Ministry of Health (Caballero, Mendoza, Cutipe) and National Institute of Mental Health (Caballero), Lima, Peru; Department of Public Health, Fundación Santa Fe de Bogotá, Bogotá, Colombia (Pulido, Botero, Borrero); Regional Office for Central and North America and the Caribbean, International Organization for Migration, San José, Costa Rica (Carpio); Department of Psychiatry (Udutha, Torrey) and the Dartmouth Institute for Health Policy and Clinical Practice (Emeny, Schifferdecker, Torrey), Geisel School of Medicine at Dartmouth, Hanover, New Hampshire; Ministry of Health and Social Protection, Bogotá, Colombia (Rodríguez).

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http://dx.doi.org/10.1176/appi.ps.201900306DOI Listing
April 2020

Performance of ultrasound for the visualization of the placental cord insertion.

Curr Opin Obstet Gynecol 2019 12;31(6):403-409

Boston University School of Public Health, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1097/GCO.0000000000000590DOI Listing
December 2019

β-Lactamase Inhibitors To Restore the Efficacy of Antibiotics against Superbugs.

J Med Chem 2020 03 13;63(5):1859-1881. Epub 2019 Nov 13.

Centro Singular de Investigación en Química Biolóxica e Materiais Moleculares (CiQUS), Departamento de Química Orgánica, Universidade de Santiago de Compostela, Jenaro de la Fuente s/n, 15782 Santiago de Compostela, Spain.

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http://dx.doi.org/10.1021/acs.jmedchem.9b01279DOI Listing
March 2020

Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations.

Dev Med Child Neurol 2019 12 13;61(12):1439-1447. Epub 2019 Aug 13.

Centre de Compétence des Leucodystrophies et Leucoencéphalopathies de Cause Rare, Pôle Femme et Enfant, Hôpital Estaing, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France.

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http://dx.doi.org/10.1111/dmcn.14332DOI Listing
December 2019

Secondary organic aerosol formation from styrene photolysis and photooxidation with hydroxyl radicals.

Chemosphere 2019 Sep 19;231:276-286. Epub 2019 May 19.

Faculty of Environmental Sciences and Biochemistry, University of Castilla La Mancha, Avenida Carlos III, s/n, 45071, Toledo, Spain.

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http://dx.doi.org/10.1016/j.chemosphere.2019.05.136DOI Listing
September 2019

New particle formation from the reactions of ozone with indene and styrene.

Phys Chem Chem Phys 2019 Jun 17;21(21):11214-11225. Epub 2019 May 17.

Universidad de Castilla-La Mancha, Facultad de Ciencias Ambientales y Bioquímica, Avenida Carlos III s/n, 45071 Toledo, Spain.

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http://dx.doi.org/10.1039/c9cp00912dDOI Listing
June 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 May 2;10(1):2079. Epub 2019 May 2.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-10161-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6497626PMC
May 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 02 15;10(1):883. Epub 2019 Feb 15.

CHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-08800-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377600PMC
February 2019

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2018 11 5;9(1):4619. Epub 2018 Nov 5.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://www.nature.com/articles/s41467-018-06014-6
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http://dx.doi.org/10.1038/s41467-018-06014-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218476PMC
November 2018

Deletion of the KU70 homologue facilitates gene targeting in Lipomyces starkeyi strain NRRL Y-11558.

Curr Genet 2019 Feb 18;65(1):269-282. Epub 2018 Aug 18.

Chemical and Biological Processes Development Group, Pacific Northwest National Laboratory, Richland, WA, 99352, USA.

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http://dx.doi.org/10.1007/s00294-018-0875-zDOI Listing
February 2019

Single-Step Rapid Diagnosis of Dopamine and Serotonin Metabolism Disorders.

ACS Omega 2017 Sep 19;2(9):5962-5972. Epub 2017 Sep 19.

Letiam, Lip(Sys), EA7357, IUT d'Orsay, Université Paris Sud, Plateau de Moulon, 91400 Orsay, France.

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http://dx.doi.org/10.1021/acsomega.7b01008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6044980PMC
September 2017

In Vitro Culturing and Screening of Candida albicans Biofilms.

Curr Protoc Microbiol 2018 08 11;50(1):e60. Epub 2018 Jul 11.

Department of Molecular and Cell Biology, School of Natural Sciences, University of California, Merced, Merced, California.

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http://dx.doi.org/10.1002/cpmc.60DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6105388PMC
August 2018

Scale-up and evaluation of hydrothermal pretreatment in isothermal and non-isothermal regimen for bioethanol production using agave bagasse.

Bioresour Technol 2018 Sep 30;263:112-119. Epub 2018 Apr 30.

Biorefinery Group, Food Research Department, Faculty of Chemistry Sciences, Autonomous University of Coahuila, Saltillo, Coahuila 25280, Mexico; Cluster of Bioalcohols, Mexican Centre for Innovation in Bioenergy (Cemie-Bio), Mexico. Electronic address:

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http://dx.doi.org/10.1016/j.biortech.2018.04.100DOI Listing
September 2018

Visualization of Biofilm Formation in Candida albicans Using an Automated Microfluidic Device.

J Vis Exp 2017 12 14(130). Epub 2017 Dec 14.

Department of Molecular and Cell Biology, School of Natural Sciences, University of California, Merced;

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http://dx.doi.org/10.3791/56743DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5752124PMC
December 2017

Masses of the Nose, Nasal Cavity, and Nasopharynx in Children.

Radiographics 2017 Oct;37(6):1704-1730

From the Department of Radiology, Nationwide Children's Hospital, 700 Children's Dr, Columbus, OH 43205 (D.P.R.); and Department of Radiology, Cincinnati Children's Hospital, Cincinnati, Ohio (E.S.O., B.L.K.).

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http://dx.doi.org/10.1148/rg.2017170064DOI Listing
October 2017

Prenatal Imaging Findings of Pontine Tegmental Cap Dysplasia: Report of Four Cases.

Fetal Diagn Ther 2019 5;45(3):197-204. Epub 2017 Jul 5.

Department of Radiology, Hôpital Trousseau, Hôpitaux Universitaires de l'Est Parisien, Université Pierre et Marie Curie, Paris, France.

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https://www.karger.com/?doi=10.1159/000475989
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http://dx.doi.org/10.1159/000475989DOI Listing
July 2019

Application of batch tests to assess antibiotic loads in anaerobic processes.

Water Sci Technol 2017 May;75(10):2412-2421

Pollution Diagnostics and Control group (GDCON), School of the Environment, Faculty of Engineering, University Research Campus (SIU), University of Antioquia (UdeA), Calle 70 No. 52-21, Medellin, Colombia E-mail:

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https://iwaponline.com/wst/article/75/10/2412-2421/29939
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http://dx.doi.org/10.2166/wst.2017.127DOI Listing
May 2017

Exploring the experience of episodic past, future, and counterfactual thinking in younger and older adults: A study of a Colombian sample.

Conscious Cogn 2017 05 18;51:258-267. Epub 2017 Apr 18.

Department of Psychology, National University of Colombia, Colombia.

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http://dx.doi.org/10.1016/j.concog.2017.04.007DOI Listing
May 2017

RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.

Pediatr Neurol 2017 01 13;66:59-62. Epub 2016 Sep 13.

Department of Neurology, Children's National Medical Center, Washington, DC; Department of Integrated Systems Biology, George Washington University, Washington, DC; Department of Pediatrics, George Washington University, Washington, DC. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2016.09.003DOI Listing
January 2017

Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome.

Eur J Paediatr Neurol 2016 Jul 7;20(4):604-10. Epub 2016 Apr 7.

Manchester Centre for Genomic Medicine, Institute of Human Development Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, United Kingdom; INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris, France; Paris Descartes, Sorbonne Paris Cité University, Institute Imagine, Paris, France.

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http://dx.doi.org/10.1016/j.ejpn.2016.03.009DOI Listing
July 2016

In Vitro Description of Macroscopic Changes of Dental Amalgam Discs Subject to High Temperatures to Forensic Purposes.

J Forensic Odontostomatol 2015 Jul 1;33(1):8-18. Epub 2015 Jul 1.

Department of Basic Sciences of Health, Faculty of Health Sciences, Pontificia Universidad del Valle, Cali, Colombia.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5734811PMC
July 2015

Systematic MRI in NF1 children under six years of age for the diagnosis of optic pathway gliomas. Study and outcome of a French cohort.

Eur J Paediatr Neurol 2016 Mar 17;20(2):275-281. Epub 2015 Dec 17.

Hôpital des Enfants, CHU Purpan, Toulouse, France; Inserm, Imagerie Cérébrale et Handicaps Neurologiques UMR 825, CHU Purpan, Toulouse, France; Université de Toulouse III - Paul Sabatier, Toulouse, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2015.12.002DOI Listing
March 2016

TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.

Eur J Paediatr Neurol 2016 Mar 28;20(2):323-330. Epub 2015 Nov 28.

Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, Rome, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2015.11.006DOI Listing
March 2016

ACES: Accurate Cervical Evaluation With Sonography.

J Ultrasound Med 2016 Jan 20;35(1):25-8. Epub 2015 Nov 20.

Department of Obstetrics and Gynecology, Beth Israel Deaconess Medical Center, Boston, Massachusetts USA (M.K.C., W.T.S., M.M., M.R.H., A.M.M., D.R.); and Department of Obstetrics, Gynecology, and Reproductive Biology, Harvard Medical School, Boston, Massachusetts USA (M.K.C., W.T.S., M.R.H., D.R.).

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http://dx.doi.org/10.7863/ultra.15.01090DOI Listing
January 2016

Atypical clinical and radiological course of a patient with Canavan disease.

Metab Brain Dis 2016 Apr 19;31(2):475-9. Epub 2015 Nov 19.

Inserm U1141 Paris Diderot Sorbonne University - Paris Cité, DHU PROTECT, Robert Debré Hospital, Paris, France.

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http://dx.doi.org/10.1007/s11011-015-9767-9DOI Listing
April 2016

Atypical Neuroimaging Manifestations of Linear Scleroderma "en coup de sabre".

Iran J Child Neurol 2015 ;9(3):62-8

The Division of Neuroradiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4577700PMC
September 2015

Photolysis study of fluorinated ketones under natural sunlight conditions.

Phys Chem Chem Phys 2015 Sep 13;17(35):22991-8. Epub 2015 Aug 13.

Facultad de Ciencias y Tecnologías Químicas, Universidad de Castilla La Mancha, Avenida Camilo José Cela, no. 10, 13071 - Ciudad Real, Spain.

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http://dx.doi.org/10.1039/c5cp03527aDOI Listing
September 2015

Screening for GFAP rearrangements in a cohort of Alexander disease and undetermined leukoencephalopathy patients.

Eur J Med Genet 2015 Sep 21;58(9):466-70. Epub 2015 Jul 21.

Inserm U1141, Paris Diderot University - Sorbonne Paris Cité, DHU PROTECT, Robert Debré Hospital, Paris, France; Reference Center for Leukodystrophies, Department of Neuropediatrics and Metabolic Diseases, Robert Debré Hospital, AP-HP, Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2015.07.002DOI Listing
September 2015

A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement.

Mov Disord 2015 Sep 24;30(10):1431-2. Epub 2015 Jul 24.

Centre de Référence Malformations et Maladies Congénitales du Cervelet, Hôpital Trousseau, Paris, France.

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http://dx.doi.org/10.1002/mds.26303DOI Listing
September 2015

Cystic leukoencephalopathy with cortical dysplasia related to LAMB1 mutations.

Neurology 2015 May 29;84(21):2195-7. Epub 2015 Apr 29.

From Departments of Child Neurology, Radiology, Molecular Biology, Robert Debré Hospital, AP-HP (F.R., J.M.-P., M.E.-B., O.B.-T.), Université Paris Diderot-Sorbonne Paris Cité (O.B-T) and INSERM U1141-DHU Protect (D.T, F.R, D.R., O.B-T.), Paris, France; Department of Child Neurology, Neurological Institute C. Besta Foundation IRCCS (D.T.), Milan, Italy; Department of Child Neurology Armand Trousseau Hospital, AP-HP (D.R) and Sorbonne Universités, UPMC Université Paris 06 (D.R.), Paris, France; and Clermont-Ferrand University Hospital (H.D.), Clermont-Ferrand, France.

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http://dx.doi.org/10.1212/WNL.0000000000001607DOI Listing
May 2015

Diabetes, race, and functional limitations in older U.S. men and women.

Diabetes Res Clin Pract 2015 Jun 13;108(3):390-7. Epub 2015 Apr 13.

Center on Aging and Health, Johns Hopkins Medical Institutions, Baltimore, MD, USA; Department of Health, Behavior, and Society, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA.

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http://dx.doi.org/10.1016/j.diabres.2015.04.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4442713PMC
June 2015

GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia.

Neurology 2015 Apr 3;84(17):1751-9. Epub 2015 Apr 3.

From Institut du Cerveau et de la Moelle épinière (M.C., A.B., G.S., A.D.), ICM, Paris; CNRS (M.C., A.B., G.S., A.D.), UMR 7225, Paris; Sorbonne Universités (M.C., A.B., G.S., A.D.), UPMC Univ Paris 06, UMRS_1127, Paris; INSERM (M.C., E.M., A.B., G.S., A.D.), U 1127, Paris, France; Laboratory of Human Molecular Genetics (M.C.), de Duve Institute, Université catholique de Louvain, Brussels, Belgium; Laboratoire de Neurogénétique (M.C., G.S.), Ecole Pratique des Hautes Etudes, ICM, GHU Pitié-Salpêtrière, Paris; Centre de Référence Malformations et Maladies Congénitales du Cervelet (L.B., D.R., S.C.-B., C.R., A.A.), Paris-Lyon-Lille; INSERM U1141 (L.B., D.R.), Paris; APHP (L.B., S.C.-B.), Armand-Trousseau Hospital, Department of Genetics, Paris, France; Service de Neurologie (M.A.-B.), CHU Bab el Oued, Alger, Algeria; APHP (D.R., A.A.), Armand-Trousseau Hospital, Department of Neuropediatrics, UPMC Univ Paris 06; Hospices Civils de Lyon (C.R.), HFME, Service de Neuropédiatrie, Bron; Centre Hospitalier du Pays d'Aix (M.-A.C.), Service de Pédiatrie, Aix en Provence; APHM (M.M.), Service de neurologie pédiatrique, Hôpital de la Timone, Marseille; Service de Génétique (A.T.), Hôpital Bretonneau, Centre Hospitalier Universitaire, Tours; Centre National de Génotypage (D.B., V.M., J.-F.D.), Institut de Génomique, CEA, Evry; APHP (A.B., D.H., A.D.), Department of Genetics and Cytogenetics, Groupe Hospitalier Pitié-Salpêtrière, Paris; Centre de Référence Déficiences Intellectuelles de causes rares (D.H.), Paris; and Groupe de Recherche Clinique déficiences intellectuelles (D.H.), UPMC Univ Paris 06, France.

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http://dx.doi.org/10.1212/WNL.0000000000001524DOI Listing
April 2015

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.

Neuropediatrics 2014 Dec 22;45(6):386-93. Epub 2014 Sep 22.

Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, United Kingdom.

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http://dx.doi.org/10.1055/s-0034-1389161DOI Listing
December 2014

Familial acute necrotizing encephalopathy due to mutation in the RANBP2 gene.

J Neurol Sci 2014 Oct 18;345(1-2):236-8. Epub 2014 Jul 18.

Department of Neurology, Bicêtre Hospital, Assistance-Publique-Hôpitaux de Paris (AP-HP), France.

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http://dx.doi.org/10.1016/j.jns.2014.07.025DOI Listing
October 2014

Mechanism of chitosan adsorption on silica from aqueous solutions.

Langmuir 2014 May 22;30(17):4980-8. Epub 2014 Apr 22.

Department of Inorganic and Analytical Chemistry, University of Geneva, Sciences II , Quai Ernest-Ansermet 30, 1205 Geneva, Switzerland.

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http://dx.doi.org/10.1021/la500680gDOI Listing
May 2014

Simultaneous determination of all forms of biopterin and neopterin in cerebrospinal fluid.

ACS Chem Neurosci 2014 Jul 8;5(7):533-41. Epub 2014 Apr 8.

LETIAM, GCAPS, EA 4041, IUT d'Orsay, Université Paris Sud 11, Plateau de Moulon. 91400 Orsay, France.

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http://dx.doi.org/10.1021/cn4001928DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4102970PMC
July 2014

Post discharge growth assessment in preterm infants: implications of adopting the WHO standards.

Arch Argent Pediatr 2014 Apr;112(2):141-6

Servicio de Neonatología, Hospital Italiano de Buenos Aires.

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http://dx.doi.org/10.5546/aap.2014.141DOI Listing
April 2014

Atmospheric chemistry and environmental assessment of inhalational fluroxene.

Chemphyschem 2013 Nov 7;14(16):3834-42. Epub 2013 Oct 7.

Faculty of Pharmacy, Physical Chemistry Department, University of Castilla La Mancha, Campus de Albacete, Edificio Polivalente, s/n, 02071 Albacete (Spain).

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November 2013

Association of third-trimester abdominal circumference with provider-initiated preterm delivery.

J Matern Fetal Neonatal Med 2014 Aug 11;27(12):1228-31. Epub 2013 Nov 11.

Department of Obstetrics and Gynecology, Northwestern University , Chicago, IL , USA .

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http://dx.doi.org/10.3109/14767058.2013.852171DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4895191PMC
August 2014

Impaired ultrasonographic cervical assessment after voiding: a randomized controlled trial.

Obstet Gynecol 2013 Apr;121(4):798-804

Division of Maternal-Fetal Medicine and the Department of Obstetrics and Gynecology, Beth Israel Deaconess Medical Center, and Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1097/AOG.0b013e3182860b8dDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3710113PMC
April 2013

Leukodystrophies with astrocytic dysfunction.

Authors:
Diana Rodriguez

Handb Clin Neurol 2013 ;113:1619-28

Université Pierre et Marie Curie-Paris 6 and Hôpital Armand Trousseau, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-59565-2.00030-7DOI Listing
March 2014

Intrasacral meningocele in the pediatric population.

J Neurosurg Pediatr 2013 Jun 19;11(6):615-22. Epub 2013 Apr 19.

Department of Neurosurgery, Boston Children’s Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.3171/2013.3.PEDS12519DOI Listing
June 2013

Partitioning, sources and variability of regional and local oxidant (OX = O3 + NO 2) in a coastal rural area in the southwest of Iberian Peninsula.

Environ Sci Pollut Res Int 2013 Sep 27;20(9):6059-69. Epub 2013 Mar 27.

Departamento de Química Física. Facultad de Ciencias y Tecnologías Químicas, Universidad de Castilla-La Mancha, Avenida Camilo Jose Cela s/n, 13071, Ciudad Real, Spain.

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http://dx.doi.org/10.1007/s11356-013-1642-9DOI Listing
September 2013

The operation of two EGSB reactors under the application of different loads of oxytetracycline and florfenicol.

Water Sci Technol 2012 ;66(12):2578-85

The University of Antioquia, Diagnostics and Pollution Control Group, Medellin, Colombia.

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http://dx.doi.org/10.2166/wst.2012.485DOI Listing
March 2013

Mycobacterium tuberculosis surface protein Rv0227c contains high activity binding peptides which inhibit cell invasion.

Peptides 2012 Dec 19;38(2):208-16. Epub 2012 Sep 19.

Fundación Instituto de Inmunología de Colombia, Cra 50 No 26-20, Bogotá, Colombia.

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http://dx.doi.org/10.1016/j.peptides.2012.08.023DOI Listing
December 2012

Adiposity indices in the prediction of insulin resistance in prepubertal Colombian children.

Public Health Nutr 2013 Feb 24;16(2):248-55. Epub 2012 Aug 24.

Division of Epidemiology and Community Health, University of Minnesota, 1300 South Second Street, Suite 300, Minneapolis, MN 55454 USA.

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http://dx.doi.org/10.1017/S136898001200393XDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3540159PMC
February 2013

Two independent de novo mutations as a cause for neurofibromatosis type 1 and Noonan syndrome in a single family.

Am J Med Genet A 2012 Sep 27;158A(9):2290-1. Epub 2012 Jul 27.

Service de Biochimie et de Génétique Moléculaire, Hôpital Cochin AP-HP, Paris, UMR745 INSERM, Université Paris Descartes, Sorbonne Paris Cité, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.35496DOI Listing
September 2012

Behaviour and variability of local and regional oxidant levels (OX = O3 + NO2) measured in a polluted area in central-southern of Iberian Peninsula.

Environ Sci Pollut Res Int 2013 Jan 29;20(1):188-200. Epub 2012 May 29.

Departamento de Química Física, Facultad de Ciencias Químicas, Universidad de Castilla la Mancha, Avenida Camilo José Cela, 13071 Ciudad Real, Spain.

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http://dx.doi.org/10.1007/s11356-012-0974-1DOI Listing
January 2013

Microbiological quality indicators in waters of dairy farms: detection of pathogens by PCR in real time.

Sci Total Environ 2012 Jun 28;427-428:314-8. Epub 2012 Apr 28.

University of Antioquia, Laboratory Diagnostics and pollution control (GDCON), University Research Headquarters (SIU), Medellín, Colombia.

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June 2012

Monitoring the removal of nitrogen by applying a nitrification-denitrification process in a Sequencing Batch Reactor (SBR).

Bioresour Technol 2011 Feb 25;102(3):2316-21. Epub 2010 Oct 25.

University of Antioquia, Laboratory Diagnostics and Pollution Control (GDCON), Medellin, Colombia.

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http://dx.doi.org/10.1016/j.biortech.2010.10.082DOI Listing
February 2011

A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22.

Neurogenetics 2011 Feb 19;12(1):73-8. Epub 2010 Aug 19.

Unité de Génétique Médicale et laboratoire associé INSERM à l'unité UMR_S 910, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.

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http://dx.doi.org/10.1007/s10048-010-0256-3DOI Listing
February 2011

Kinetics and mechanism of the atmospheric reactions of atomic chlorine with 1-penten-3-ol and (Z)-2-penten-1-ol: an experimental and theoretical study.

Phys Chem Chem Phys 2010 Oct 16;12(38):12245-58. Epub 2010 Aug 16.

Faculty of Environmental Sciences, University of Castilla La Mancha, Avenida Carlos III, s/n, 45071, Toledo, Spain.

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http://dx.doi.org/10.1039/c0cp00625dDOI Listing
October 2010

Multiple cranial nerve neuropathies, microcephaly, neurological degeneration, and "fork and bracket sign" in the MRI: a distinct syndrome.

Am J Med Genet A 2010 Sep;152A(9):2297-300

Faculté de Médecine, Unité de Génétique Médicale, Université Saint-Joseph, Beirut, Lebanon.

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http://dx.doi.org/10.1002/ajmg.a.33417DOI Listing
September 2010

Incidence of epidural catheter-associated infections after continuous epidural analgesia in children.

Anesthesiology 2010 Jul;113(1):224-32

Department of Anesthesiology Perioperative and Pain Medicine, Children's Hospital Boston, Boston, Massachusetts 02115, USA.

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July 2010