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2 results on '"Rabisoa W. Razafindrakoto"'

1. Corrigendum: Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar

Author

Rabisoa W. Razafindrakoto, Hélène Dollfus, Béatrice Richard, Rija H. Ramanampamaharana, Solofomanantsoa E. Randrianazary, Philippe Gorry, Corinne Stoetzel, Véronique Geoffroy, Mathilde Huckert, Jean-Claude Randrianaivo, Julia Meyer, Saholy N. Ralison, Rija O. Andriamasinoro, Georgette Ralison, Louise H. Ralimanana, Jeanne A. Rasoamananjara, Agnès Bloch-Zupan, Simone Rakoto Alson, and Marie-Cécile Manière

Subjects
0301 basic medicine, Dental anomalies, education.field_of_study, business.industry, Physiology, Population, Aucun, Dentistry, 030206 dentistry, Genealogy, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Physiology (medical), Mutation (genetic algorithm), Medicine, business, education
Abstract

Reason for Corrigendum: The authors, Jeanne A. Rasoamananjara and Louise H. Ralimanana were inadvertently missed in the original manuscript and we wish to add their names for contribution to this work. All authors have agreed to this modification. The authors apologize for this oversight. This error does not change the scientific conclusions of the article in any way. The original article has been updated.

Published
2016

2. Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar

Author

Rija H. Ramanampamaharana, Saholy N. Ralison, Philippe Gorry, Louise H. Ralimanana, Corinne Stoetzel, Béatrice Richard, Hélène Dollfus, Rabisoa W. Razafindrakoto, Solofomanantsoa E. Randrianazary, Jean-Claude Randrianaivo, Rija O. Andriamasinoro, Marie-Cécile Manière, Julia Meyer, Mathilde Huckert, Agnès Bloch-Zupan, Simone Rakoto Alson, Georgette Ralison, Jeanne A. Rasoamananjara, Véronique Geoffroy, Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Génétique Médicale (LGM), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Unité d'Écophysiologie forestière, Institut National de la Recherche Agronomique (INRA), Groupe de Recherche en Economie Théorique et Appliquée (GREThA), Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB), Hôpitaux universitaires, Département Odontologie Pédiatrique, Centre de Référence National pour les maladies génétiques à expression odontologique, Service de génétique médicale, CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], and Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)

Subjects
0301 basic medicine, Physiology, Dentinogenesis imperfecta, Population, rare disease, lcsh:Physiology, DNA sequencing, 03 medical and health sciences, 0302 clinical medicine, stomatognathic system, Dentinogenesis Imperfecta, Physiology (medical), medicine, human, humans, education, Exome sequencing, ComputingMilieux_MISCELLANEOUS, Original Research, Genetics, education.field_of_study, lcsh:QP1-981, business.industry, Correction, 030206 dentistry, mutations, medicine.disease, Dental care, dental anomalies, 3. Good health, stomatognathic diseases, 030104 developmental biology, NGS, Clinical diagnosis, Dentin, Mutation (genetic algorithm), mutation, business, Genetic diagnosis, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Atmosphère
Abstract

A large family from a small village in Madagascar, Antanetilava, is known to present with colored teeth. Through previous collaboration and 4 successive visits in 1994, 2004, 2005, and 2012, we provided dental care to the inhabitants and diagnosed dentinogenesis imperfecta. Recently, using whole exome sequencing we confirmed the clinical diagnosis by identifying a novel single nucleotide deletion in exon 5 of DSPP. This paper underlines the necessity of long run research, the importance of international and interpersonal collaborations as well as the major contribution of next generation sequencing tools in the genetic diagnosis of rare oro-dental anomalies. This study is registered in ClinicalTrials (https://clinicaltrials.gov) under the number NCT02397824. journal article 2016 2016 03 02 imported

Published
2016
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