Publications by authors named "Cecile Rouzier"

37Publications

Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule.

Authors:
Laure Cayrefourcq Marie-Claire Vincent Sandra Pierredon Céline Moutou Marion Imbert-Bouteille Emmanuelle Haquet Jacques Puechberty Marjolaine Willems Cathy Liautard-Haag Nicolas Molinari Cécile Zordan Virginie Dorian Caroline Rooryck-Thambo Cyril Goizet Annabelle Chaussenot Cécile Rouzier Amandine Boureau-Wirth Laetitia Monteil Patrick Calvas Claire Miry Romain Favre Yuliya Petrov Philippe Khau Van Kien Elsa Le Boette Mélanie Fradin Catherine Alix-Panabières Claire Guissart

Sci Rep 2020 06 17;10(1):9861. Epub 2020 Jun 17.

Laboratoire de Génétique de Maladies Rares, Institut Universitaire de Recherche Clinique, EA7402 Université de Montpellier, CHU Montpellier, Montpellier, France.

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June 2020

Single-fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases.

Authors:
Elamine Zereg Annabelle Chaussenot Godelieve Morel Sylvie Bannwarth Sabrina Sacconi Marie-Hélène Soriani Shahram Attarian Aline Cano Jean Pouget Rémi Bellance Christine Tranchant Béatrice Lannes André Maues de Paula Samira Saadi Ait-El-Mkadem Bernadette Chafino Mathieu Berthet Konstantina Fragaki Véronique Paquis-Flucklinger Cécile Rouzier

Hum Mutat 2020 Aug 12;41(8):1394-1406. Epub 2020 Jun 12.

Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France.

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August 2020

Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study.

Authors:
Céline Bordet Sandrine Brice Carole Maupain Estelle Gandjbakhch Bertrand Isidor Aurélien Palmyre Alexandre Moerman Annick Toutain Linda Akloul Anne-Claire Brehin Caroline Sawka Caroline Rooryck-Thambo Elise Schaefer Karine Nguyen Delphine Dupin Deguine Cécile Rouzier Gipsy Billy Krystelle Séné Isabelle Denjoy Bruno Leheup Marc Planes Jean-Michael Mazzella Stéphanie Staraci Mélanie Hebert Elsa Le Boette Claire-Cécile Michon Marie-Lise Babonneau Angélique Curjol Amine Bekhechi Rafik Mansouri Ibticem Raji Jean-François Pruny Véronique Fressart Flavie Ader Pascale Richard Sophie Tezenas du Montcel Marcela Gargiulo Philippe Charron

J Clin Med 2020 May 6;9(5). Epub 2020 May 6.

APHP, Referral Center for hereditary heart disease, Department of Genetics, Pitié-Salpêtrière University Hospital, 75013 Paris, France.

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May 2020

A novel variant m.8561C>T in the overlapping region of and in a child with early-onset severe neurological signs.

Authors:
Konstantina Fragaki Annabelle Chaussenot Valerie Serre Cecile Acquaviva Sylvie Bannwarth Cecile Rouzier Brigitte Chabrol Veronique Paquis-Flucklinger

Mol Genet Metab Rep 2019 Dec 21;21:100543. Epub 2019 Nov 21.

Université Côte d'Azur, CHU, Inserm, CNRS, IRCAN, France.

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December 2019

NDUFS6 related Leigh syndrome: a case report and review of the literature.

Authors:
Cécile Rouzier Annabelle Chaussenot Konstantina Fragaki Valérie Serre Samira Ait-El-Mkadem Christian Richelme Véronique Paquis-Flucklinger Sylvie Bannwarth

J Hum Genet 2019 Jul 4;64(7):637-645. Epub 2019 Apr 4.

Université Côte d'Azur, Inserm, CNRS, IRCAN, CHU de Nice, Nice, France.

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July 2019

deletion in an encephalomyopathy with hyperintensity of middle cerebellar peduncles.

Authors:
Annabelle Chaussenot Cécile Rouzier Konstantina Fragaki Sabrina Sacconi Samira Ait-El-Mkadem Véronique Paquis-Flucklinger Sylvie Bannwarth

Neurol Genet 2018 Oct 19;4(5):e268. Epub 2018 Sep 19.

Université Côte d'Azur, CHU de Nice, Inserm, CNRS, IRCAN, France.

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October 2018

A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis.

Authors:
Claire Guissart Frédéric Tran Mau Them Vanessa Debant Victoria Viart Charlotte Dubucs Victoria Pritchard Cécile Rouzier Amandine Boureau-Wirth Emmanuelle Haquet Jacques Puechberty Eric Bieth Philippe Khau Van Kien Marie-Pierre Brechard Caroline Raynal Anne Girardet Mireille Claustres Michel Koenig Marie-Claire Vincent

Fetal Diagn Ther 2019 17;45(6):403-412. Epub 2018 Aug 17.

Laboratoire de Génétique Moléculaire, IURC, CHRU de Montpellier, Montpellier, France,

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January 2020

Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases.

Authors:
Morgane Plutino Annabelle Chaussenot Cécile Rouzier Samira Ait-El-Mkadem Konstantina Fragaki Véronique Paquis-Flucklinger Sylvie Bannwarth

BMC Med Genet 2018 04 7;19(1):57. Epub 2018 Apr 7.

Université Côte d'Azur, CHU de Nice, Inserm, CNRS, IRCAN, Nice, France.

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April 2018

Assembly defects of multiple respiratory chain complexes in a child with cardiac hypertrophy associated with a novel ACAD9 mutation.

Authors:
Konstantina Fragaki Annabelle Chaussenot Audrey Boutron Sylvie Bannwarth Cecile Rouzier Brigitte Chabrol Veronique Paquis-Flucklinger

Mol Genet Metab 2017 07 4;121(3):224-226. Epub 2017 May 4.

Université Côte d'Azur, CHU, Inserm, CNRS, IRCAN, France. Electronic address:

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July 2017

A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions.

Authors:
Cécile Rouzier David Moore Cécile Delorme Sandra Lacas-Gervais Samira Ait-El-Mkadem Konstantina Fragaki Florence Burté Valérie Serre Sylvie Bannwarth Annabelle Chaussenot Martin Catala Patrick Yu-Wai-Man Véronique Paquis-Flucklinger

Hum Mol Genet 2017 05;26(9):1786

Université Côte d'Azur, CHU, Inserm, CNRS, IRCAN, France.

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May 2017

A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions.

Authors:
Cécile Rouzier David Moore Cécile Delorme Sandra Lacas-Gervais Samira Ait-El-Mkadem Konstantina Fragaki Florence Burté Valérie Serre Sylvie Bannwarth Annabelle Chaussenot Martin Catala Patrick Yu-Wai-Man Véronique Paquis-Flucklinger

Hum Mol Genet 2017 05;26(9):1599-1611

Université Côte d'Azur, CHU, Inserm, CNRS, IRCAN, France.

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May 2017

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.

Authors:
Samira Ait-El-Mkadem Manal Dayem-Quere Mirjana Gusic Annabelle Chaussenot Sylvie Bannwarth Bérengère François Emmanuelle C Genin Konstantina Fragaki Catharina L M Volker-Touw Christelle Vasnier Valérie Serre Koen L I van Gassen Françoise Lespinasse Susan Richter Graeme Eisenhofer Cécile Rouzier Fanny Mochel Anne De Saint-Martin Marie-Thérèse Abi Warde Monique G M de Sain-van der Velde Judith J M Jans Jeanne Amiel Ziga Avsec Christian Mertes Tobias B Haack Tim Strom Thomas Meitinger Penelope E Bonnen Robert W Taylor Julien Gagneur Peter M van Hasselt Agnès Rötig Agnès Delahodde Holger Prokisch Sabine A Fuchs Véronique Paquis-Flucklinger

Am J Hum Genet 2017 Jan 15;100(1):151-159. Epub 2016 Dec 15.

Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, 06202 Nice, France; Nice Sophia-Antipolis University, CNRS UMR 7284, INSERM U1081, Institute for Research on Cancer and Aging, Nice, 06107 Nice, France. Electronic address:

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January 2017

A new mutation in the mitochondrial tRNA gene associated with early-onset neuromuscular phenotype and ragged-red fibers.

Authors:
Godelieve Morel Sylvie Bannwarth Annabelle Chaussenot Aline Cano Konstantina Fragaki Samira Ait-El-Mkadem Cecile Rouzier Andre Maues De Paula Brigitte Chabrol Veronique Paquis-Flucklinger

Neuromuscul Disord 2016 Dec 16;26(12):885-889. Epub 2016 Sep 16.

Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France; Nice Sophia-Antipolis University, IRCAN, CNRS, INSERM, UMR 7284 & U1081, 06107 Nice, France. Electronic address:

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December 2016

An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.

Authors:
Justine Lerat Laurence Jonard Natalie Loundon Sophie Christin-Maitre Didier Lacombe Cyril Goizet Cécile Rouzier Lionel Van Maldergem Souad Gherbi Eréa-Nöel Garabedian Jean-Paul Bonnefont Philippe Touraine Isabelle Mosnier Arnold Munnich Françoise Denoyelle Sandrine Marlin

Hum Mutat 2016 12 7;37(12):1354-1362. Epub 2016 Oct 7.

Génétique Médicale, Centre de Référence des Surdités Génétiques, Hôpital Necker, AP-HP, Paris, France.

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December 2016

Clinical utility gene card for: Wolfram syndrome.

Authors:
Mariya Moosajee Patrick Yu-Wai-Man Cécile Rouzier Maria Bitner-Glindzicz Richard Bowman

Eur J Hum Genet 2016 11 25;24(11). Epub 2016 May 25.

Great Ormond Street Hospital, London, UK.

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November 2016

A false positive newborn screening result due to a complex allele carrying two frequent CF-causing variants.

Authors:
Anne Bergougnoux Amandine Boureau-Wirth Cécile Rouzier Jean-Pierre Altieri Fanny Verneau Lise Larrieu Michel Koenig Mireille Claustres Caroline Raynal

J Cyst Fibros 2016 05 23;15(3):309-12. Epub 2016 Apr 23.

Laboratoire de Génétique Moléculaire, CHRU Montpellier, 34093 Montpellier Cedex 5, France; Laboratoire de Génétique de Maladies Rares, Institut Universitaire de Recherche Clinique, EA 7402, Université de Montpellier, 34000 Montpellier Cedex 5, France.

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May 2016

Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes.

Authors:
Konstantina Fragaki Annabelle Chaussenot Jean-François Benoist Samira Ait-El-Mkadem Sylvie Bannwarth Cécile Rouzier Charlotte Cochaud Véronique Paquis-Flucklinger

Biol Res 2016 Jan 8;49. Epub 2016 Jan 8.

School of Medicine, IRCAN, UMR CNRS 7284/INSERM U1081/UNS, Nice Sophia-Antipolis University, 28 av de Valombrose, 06107, Nice Cedex 2, France.

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January 2016

Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China.

Authors:
Sylvie Bannwarth Samira Ait-El-Mkadem Annabelle Chaussenot Emmanuelle C Genin Sandra Lacas-Gervais Konstantina Fragaki Laetitia Berg-Alonso Yusuke Kageyama Valérie Serre David Moore Annie Verschueren Cécile Rouzier Isabelle Le Ber Gaëlle Augé Charlotte Cochaud Françoise Lespinasse Karine N'Guyen Anne de Septenville Alexis Brice Patrick Yu-Wai-Man Hiromi Sesaki Jean Pouget Véronique Paquis-Flucklinger

Brain 2016 Apr 30;139(Pt 4):e22. Epub 2015 Dec 30.

1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France 2 Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France

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April 2016

CHCHD10 mutations are not a common cause of SMN1-negative type III/IV spinal motor atrophy.

Authors:
Godelieve Morel Cécile Rouzier Annabelle Chaussenot Samira Ait-El-Mkadem Sylvie Bannwarth Emmanuelle C Genin Gaëlle Augé Brigitte Chabrol Jean Pouget Marie Hélène Soriani Sabrina Sacconi Véronique Paquis-Flucklinger

Ann Neurol 2015 Nov 31;78(5):831. Epub 2015 Aug 31.

Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France.

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November 2015