Publications by authors named "Arthur Sorlin"

26Publications

Compassionate use of everolimus for refractory epilepsy in a patient with MTOR mosaic mutation.

Eur J Med Genet 2020 Nov 14;63(11):104036. Epub 2020 Aug 14.

Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, CHU Dijon Bourgogne, 21079, Dijon, France; Génétique des Anomalies du Développement, UMR1231, Université de Bourgogne, 21079, Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU Dijon Bourgogne, 21079, Dijon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.104036DOI Listing
November 2020

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

Am J Hum Genet 2020 07 17;107(1):164-172. Epub 2020 Jun 17.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2020.05.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7332645PMC
July 2020

Reverse Phenotyping in Patients with Skin Capillary Malformations and Mosaic GNAQ or GNA11 Mutations Defines a Clinical Spectrum with Genotype-Phenotype Correlation.

J Invest Dermatol 2020 May 11;140(5):1106-1110.e2. Epub 2019 Nov 11.

Dermatology Department, Dijon Burgundy University Hospital, Dijon, France; INSERM UMR1231, Team Genetics of Development Anomalies, Bourgogne-Franche-Comté University, Dijon, France; Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC)-Mosaic, Burgundy University Hospital, Dijon, France.

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http://dx.doi.org/10.1016/j.jid.2019.08.455DOI Listing
May 2020

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

Mosaicism for a KITLG Mutation in Linear and Whorled Nevoid Hypermelanosis.

J Invest Dermatol 2017 07 28;137(7):1575-1578. Epub 2017 Feb 28.

Université Bourgogne Franche-Comté, EA 4271 Génétique des Anomalies du Développement, Dijon, France; Service de Pathologie, Plateau Technique de Biologie, CHU Dijon Bourgogne, France; Service de Dermatologie, CHU Dijon Bourgogne, Dijon, France; Centre de référence Anomalies du Développement et Syndromes Malformatifs, CHU Dijon Bourgogne, France. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2017.01.035DOI Listing
July 2017

Effect of l-Arginine in One Patient with Peroxisome Biogenesis Disorder due to PEX12 Deficiency.

Neuropediatrics 2016 Jun 4;47(3):179-81. Epub 2016 Mar 4.

Reference Centre for Inborn Errors of Metabolism, University Hospital of Nancy, France.

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http://dx.doi.org/10.1055/s-0036-1578798DOI Listing
June 2016

McCune-Albright syndrome, natural history and multidisciplinary management in a series of 14 pediatric cases.

Ann Endocrinol (Paris) 2016 Feb 2;77(1):7-13. Epub 2016 Feb 2.

University of Lorraine, University Hospital of Nancy, Department of Pediatrics and Medical Genetics, rue du Morvan, 54500 Vandœuvre-lès-Nancy, France; University of Lorraine, University Hospital of Nancy, Competence Medical Center for rare endocrine diseases, rue du Morvan, 54500 Vandœuvre-lès-Nancy, France.

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http://dx.doi.org/10.1016/j.ando.2016.01.002DOI Listing
February 2016