Publications by authors named "Nicolas Richard"

35Publications

The Wide Spectrum of COVID-19 Clinical Presentation in Children.

J Clin Med 2020 Sep 12;9(9). Epub 2020 Sep 12.

Pediatric Pulmonology Department, APHP Hôpital Trousseau, Sorbonne Université, 75012 Paris, France.

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http://dx.doi.org/10.3390/jcm9092950DOI Listing
September 2020

[Acute respiratory distress in children].

Rev Prat 2020 Apr;70(4):e111-e114

Service de pneumologie pédiatrique, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Trousseau ; Sorbonne Université, Paris, France.

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April 2020

Finding Reaction Pathways and Transition States: r-ARTn and d-ARTn as an Efficient and Versatile Alternative to String Approaches.

J Chem Theory Comput 2020 Oct 11;16(10):6726-6734. Epub 2020 Sep 11.

Département de Physique and Regroupement québécois sur les matriaux de pointe, Département de Physique, Université de Montréal, C.P. 6128, succursale Centre-ville H3C 3J7 Montréal Canada Montréal, Canada.

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http://dx.doi.org/10.1021/acs.jctc.0c00541DOI Listing
October 2020

Nocturnal hypoventilation in Down syndrome children with or without sleep apnea.

Pediatr Pulmonol 2020 05 28;55(5):1246-1253. Epub 2020 Feb 28.

Department of Pediatric Pulmonology, Armand Trousseau Hospital, AP-HP, Paris, France.

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http://dx.doi.org/10.1002/ppul.24703DOI Listing
May 2020

Maternal Transmission Ratio Distortion of GNAS Loss-of-Function Mutations.

J Bone Miner Res 2020 May 13;35(5):913-919. Epub 2020 Jan 13.

Normandie Université, UNICAEN, CHU de Caen Normandie, Department of Genetics, Reference Center for Rare Diseases of Calcium and Phosphorus Metabolism, EA7450 BioTARGen, Caen, France.

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http://dx.doi.org/10.1002/jbmr.3948DOI Listing
May 2020

Relevance of Detection of Mechanisms of Resistance to ALK Inhibitors in ALK-Rearranged NSCLC in Routine Practice.

Clin Lung Cancer 2019 07 26;20(4):297-304.e1. Epub 2019 Feb 26.

Thoracic Oncology Department, Univ. Lille CHU Lille, Lille, France; UMR 8161 M3T Mechanisms of Tumorigenesis and Targeted Therapies, Univ. Lille CNRS Institut Pasteur de Lille, Lille, France. Electronic address:

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http://dx.doi.org/10.1016/j.cllc.2019.02.013DOI Listing
July 2019

High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1B.

Bone 2019 06 21;123:145-152. Epub 2019 Mar 21.

Normandie Univ, UNICAEN, CHU de Caen Normandie, Department of Genetics, Reference Center fo Rare Diseases of Calcium and Phosphorus Metabolism, EA7450 BioTARGen, 14000 Caen, France. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2019.03.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6637416PMC
June 2019

Study of silica-based intrinsically emitting nanoparticles produced by an excimer laser.

Beilstein J Nanotechnol 2019 16;10:211-221. Epub 2019 Jan 16.

Univ Lyon, UJM-Saint-Etienne, CNRS, Graduate School Optics Institute, Laboratoire Hubert Curien UMR 5516, F-42023, Saint-Etienne, France.

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http://dx.doi.org/10.3762/bjnano.10.19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6350953PMC
January 2019

Clinical Relevance of EGFR- or KRAS-mutated Subclones in Patients With Advanced Non-small-cell Lung Cancer Receiving Erlotinib in a French Prospective Cohort (IFCT ERMETIC2 Cohort - Part 2).

Clin Lung Cancer 2019 05 19;20(3):222-230. Epub 2018 Dec 19.

Intergroupe Francophone de Cancérologie Thoracique (IFCT), Paris, France; Service de Pneumologie, Assistance Publique Hôpitaux de Paris, Hôpital Tenon, GRC-04 Theranoscan, Université Paris VI, 75970 Paris, France.

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http://dx.doi.org/10.1016/j.cllc.2018.12.012DOI Listing
May 2019

Molecular characterization of a recurrent 10.9 kb CYP24A1 deletion in Idiopathic Infantile Hypercalcemia.

Eur J Med Genet 2019 Nov 10;62(11):103577. Epub 2018 Nov 10.

CHU de Caen, Department of Genetics, Molecular Genetics Laboratory and Reference Center for Rare Diseases of Calcium and Phosphorus Metabolism, Caen, F-14000, France; Université Caen Normandie, Medical School, Caen, F14000, France; BioTARGEN, Université Caen Normandie, Caen, F14000, France.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183026
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http://dx.doi.org/10.1016/j.ejmg.2018.11.011DOI Listing
November 2019

Simultaneous inhibition of α4/β7 integrin and tumour necrosis factor-α in concomitant spondyloarthritis and inflammatory bowel disease.

Ann Rheum Dis 2018 12 29;77(12):e86. Epub 2017 Dec 29.

Division of Rheumatology, University Health Network, Toronto Western Hospital, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1136/annrheumdis-2017-212819DOI Listing
December 2018

Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?

J Bone Miner Res 2017 Sep 13;32(9):1893-1899. Epub 2017 Jul 13.

CHU de Nancy, Department of Pediatrics and Reference Center for Rare Hereditary Diseases of Metabolism, Vandoeuvre-lès-Nancy, France.

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http://dx.doi.org/10.1002/jbmr.3181DOI Listing
September 2017

Clinical correlates of faecal incontinence in systemic sclerosis: identifying therapeutic avenues.

Rheumatology (Oxford) 2017 04;56(4):581-588

Division of Rheumatology, Centre Hospitalier Universitaire de Sherbrooke, Université de Sherbrooke, Sherbrooke, Quebec, Canada.

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http://dx.doi.org/10.1093/rheumatology/kew441DOI Listing
April 2017

Identification of I1171N resistance mutation in ALK-positive non-small-cell lung cancer tumor sample and circulating tumor DNA.

Lung Cancer 2016 09 14;99:38-40. Epub 2016 Jun 14.

Department of Oncology, Centre François Baclesse, 14000 Caen, France.

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http://dx.doi.org/10.1016/j.lungcan.2016.06.010DOI Listing
September 2016

Loss of methylation at GNAS exon A/B is associated with increased intrauterine growth.

J Clin Endocrinol Metab 2015 Apr 20;100(4):E623-31. Epub 2015 Jan 20.

Department of Genetics (A.-C.B., C.C., N.R., M.-L.K.), Centre Hospitalier Universitaire de Caen, Reference Centre for Rare Disorders of Calcium and Phosphorus Metabolism, F-14000 Caen, France; Paediatric Endocrinology and Diabetology (S.M.-M., V.G., A.L.), Reference Centre for Rare Disorders of the Mineral Metabolism, AP-HP Hôpital Bicêtre, le Kremlin-Bicêtre 94270, France; Faculté de Médecine, Université Paris Sud, le Kremlin-Bicêtre 94270, France; and Pediatric Nephrology Unit and Endocrine Unit (H.J.), Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114.

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http://dx.doi.org/10.1210/jc.2014-4047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4399294PMC
April 2015

Diagnosis and management of congenital hypothyroidism associated with pseudohypoparathyroidism.

Horm Res Paediatr 2015 9;83(2):111-7. Epub 2015 Jan 9.

Service de Génétique, Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphore, CHU de Caen, Caen, France.

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http://dx.doi.org/10.1159/000369492DOI Listing
December 2015

De novo 15q13.3 microdeletion with cryptogenic West syndrome.

Am J Med Genet A 2013 Oct 8;161A(10):2582-7. Epub 2013 Aug 8.

Department of Genetics, Hôpital Côte de Nacre, Caen, France.

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http://dx.doi.org/10.1002/ajmg.a.36085DOI Listing
October 2013

Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development.

J Clin Endocrinol Metab 2013 Sep 24;98(9):E1549-56. Epub 2013 Jul 24.

Centre Hospitalier Universitaire de Caen, Department of Genetics, Reference Centre for Rare Disorders of Calcium and Phosphorus Metabolism, F-14000 Caen, France.

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http://dx.doi.org/10.1210/jc.2013-1667DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3763972PMC
September 2013

A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib.

J Clin Endocrinol Metab 2012 May 29;97(5):E863-7. Epub 2012 Feb 29.

Centre Hospitalier Universitaire (CHU) de Caen, Department of Genetics, Caen F-14033, France.

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http://dx.doi.org/10.1210/jc.2011-2804DOI Listing
May 2012

Array CGH analysis in high-risk pregnancies: comparing DNA from cultured cells and cell-free fetal DNA.

Prenat Diagn 2012 Apr 24;32(4):383-8. Epub 2011 Oct 24.

Laboratoire de Cytogénétique Prénatale, Service de Génétique, CHU Caen Côte de Nacre, UFR de Médecine Caen, Caen, France.

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http://doi.wiley.com/10.1002/pd.2861
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http://dx.doi.org/10.1002/pd.2861DOI Listing
April 2012

The matrix protein of vesicular stomatitis virus binds dynamin for efficient viral assembly.

J Virol 2010 Dec 13;84(24):12609-18. Epub 2010 Oct 13.

Centre de Recherche de Gif, Laboratoire de Virologie Moléculaire et Structurale, CNRS (UPR 3296), IFR115, Allée de la Terrasse, 91198, Gif sur Yvette, France.

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http://dx.doi.org/10.1128/JVI.01400-10DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3004305PMC
December 2010

A new FSHbeta mutation in a 29-year-old woman with primary amenorrhea and isolated FSH deficiency: functional characterization and ovarian response to human recombinant FSH.

Eur J Endocrinol 2010 Mar 4;162(3):633-41. Epub 2009 Dec 4.

Unité de Formation et de Recherche de Médecine Centre Hospitalier Universitaire, Département Génétique et Reproduction, Université de Caen Basse-Normandie, F-14032 Caen, France.

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http://dx.doi.org/10.1530/EJE-09-0648DOI Listing
March 2010

KiSS-1 and GPR54 at the pituitary level: overview and recent insights.

Peptides 2009 Jan 1;30(1):123-9. Epub 2008 Oct 1.

Département Génétique et Reproduction, Unité de Formation et de Recherche de médecine Centre Hospitalier Universitaire, F-14033 Caen, France.

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http://dx.doi.org/10.1016/j.peptides.2008.09.015DOI Listing
January 2009

The expression of aromatase in gonadotropes is regulated by estradiol and gonadotropin-releasing hormone in a manner that differs from the regulation of luteinizing hormone.

Endocrinology 2006 Sep 8;147(9):4234-44. Epub 2006 Jun 8.

Département Génétique et Reproduction, UFR de médecine, F-14033 Caen, France.

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http://dx.doi.org/10.1210/en.2005-1650DOI Listing
September 2006

[GnRH deficiency: new insights from genetics].

J Soc Biol 2004 ;198(1):80-7

Département Génétique et Reproduction, Unité de génétique moléculaire, CHU de Caen, Avenue Georges Clemenceau, 14033 Caen.

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July 2004