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Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5

Cecilia Marelli , Foudil Lamari , Dominique Rainteau , Alexandre Lafourcade , Guillaume Banneau et al.
Brain - A Journal of Neurology , 2018, 141 (1), pp.72 - 84. ⟨10.1093/brain/awx297⟩
Article dans une revue hal-01737580v1
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LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters

Marion Imbert-Bouteille , Frédéric Tran Mau Them , Julien Thevenon , Thomas Guignard , Vincent Gatinois et al.
European Journal of Medical Genetics, 2019, 62 (3), pp.161-166. ⟨10.1016/j.ejmg.2018.07.003⟩
Article dans une revue hal-01845043v1
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Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands.

Laurence Faivre , Gwenaëlle Collod-Beroud , Anne H. Child , Bert L. Callewaert , Bart L. Loeys et al.
Journal of Medical Genetics, 2008, 45 (6), pp.384-90. ⟨10.1136/jmg.2007.056382⟩
Article dans une revue inserm-00343946v1
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Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.

Laurence Faivre , Gwenaëlle Collod-Beroud , Bert L. Callewaert , Anne H. Child , Christine Binquet et al.
European Journal of Human Genetics, 2009, 17 (4), pp.491-501. ⟨10.1038/ejhg.2008.207⟩
Article dans une revue inserm-00343925v2
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In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome

Virginie Carmignac , Julie Thevenon , Lesley Ades , Bert Callewaert , Sophie Julia et al.
American Journal of Human Genetics, 2012, 91 (5), pp.950 - 957. ⟨10.1016/j.ajhg.2012.10.002⟩
Article dans une revue hal-01670135v1
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Cardiovascular manifestations in men and women carrying a FBN1 mutation

Delphine Detaint , Laurence Faivre , Gwenaelle Collod-Beroud , Anne Child , Bart L Loeys et al.
European Heart Journal, 2010, 31 (18), pp.2223 - 2229. ⟨10.1093/eurheartj/ehq258⟩
Article dans une revue hal-01669994v1

Should aortic stiffness be evaluated in thoracic aortic aneurysm/dissection relatives to prevent risks?

Alain Lalande , Philippe Khau van Kien , Eric Steinmetz , David Vandroux , Olivier Bouchot et al.
78th Annual Scientific Session of the American-Heart-Association, Nov 2005, Dallas, United States. pp.U623-U623
Communication dans un congrès hal-00788188v1

Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion

T. Chiu , S. Pei , C.C.Y. Mak , G.K.C. Leung , M. Yu et al.
Clinical Genetics, 2018, 93 (4), pp.880-890. ⟨10.1111/cge.13196⟩
Article dans une revue hal-01680905v1

B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation

Kevin Yauy , Frederic Tran Mau-Them , Marjolaine Willems , Christine Coubes , Patricia Blanchet et al.
Genetics in Medicine, 2018, 20 (2), pp.269-274. ⟨10.1038/gim.2017.109⟩
Article dans une revue hal-01634463v1

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature (vol 21, pg 1308, 2018)

Juliette Piard , Lara Hawkes , Mathieu Milh , Laurent Villard , Renato Borgatti et al.
Genetics in Medicine, 2019, 21 (7), pp.1667. ⟨10.1038/s41436-019-0460-y⟩
Article dans une revue hal-02461440v1
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Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion

G Faivre , Gwenaëlle Collod-Béroud , C Callewaert , C Child , L. Loeys et al.
American Journal of Medical Genetics Part A, 2009, 149A (5), pp.854 - 860. ⟨10.1002/ajmg.a.32809⟩
Article dans une revue istex hal-01669908v1

Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity.

Philippe Khau van Kien , Jean-Eric Wolf , Flavie Mathieu , Limin Zhu , Nicolas Salve et al.
European Journal of Human Genetics, 2004, 12 (3), pp.173-180. ⟨10.1038/sj.ejhg.5201119⟩
Article dans une revue hal-00839573v1
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The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.

Melissa Yana Frédéric , Christine Monino , Christoph Marschall , Dalil Hamroun , Laurence Faivre et al.
Human Mutation, 2009, 30 (2), pp.181-90. ⟨10.1002/humu.20794⟩
Article dans une revue inserm-00343886v1
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Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.

Laurence Faivre , Gwenaëlle Collod-Beroud , Bart L. Loeys , Anne H. Child , Christine Binquet et al.
American Journal of Human Genetics, 2007, 81 (3), pp.454-66. ⟨10.1086/520125⟩
Article dans une revue inserm-00344134v1

Compliance and Pulse Wave Velocity Assessed by MRI Detect Early Aortic Impairment in Young Patients With Mutation of the Smooth Muscle Myosin Heavy Chain

Alain Lalande , Philippe Khau van Kien , Paul Walker , L. Zhu , Louis Legrand et al.
Journal of Magnetic Resonance Imaging, 2008, 28 (5), pp.1180-1187. ⟨10.1002/jmri.21565⟩
Article dans une revue istex hal-00787375v1
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Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome

Pauline Arnaud , Nadine Hanna , Mélodie Aubart , Bruno Leheup , Sophie Dupuis-Girod et al.
Journal of Medical Genetics, 2017, 54 (2), pp.100 - 103. ⟨10.1136/jmedgenet-2016-103996⟩
Article dans une revue hal-01670201v1
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Report on three additional patients and genotype–phenotype correlation in SLC25A22-related disorders group

Camille Lemattre , Marion Imbert-Bouteille , Vincent Gatinois , Paule Benit , Elodie Sanchez et al.
European Journal of Human Genetics, 2019, 27 (11), pp.1692-1700. ⟨10.1038/s41431-019-0433-2⟩
Article dans une revue hal-02180849v1
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Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.

Chantal Stheneur , Gwenaëlle Collod-Béroud , Laurence Faivre , Jean François Buyck , Laurent Gouya et al.
European Journal of Human Genetics, 2009, 17 (9), pp.1121-8. ⟨10.1038/ejhg.2009.36⟩
Article dans une revue inserm-00396249v1
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The new Ghent criteria for Marfan syndrome: what do they change?

G Faivre , Gwenaëlle Collod-Béroud , A Adès , A Arbustini , C Child et al.
Clinical Genetics, 2012, 81 (5), pp.433 - 442. ⟨10.1111/j.1399-0004.2011.01703.x⟩
Article dans une revue hal-01670114v1
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The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

Juliette C Piard , Lara Hawkes , Mathieu Milh , Laurent Villard , Renato Borgatti et al.
Genetics in Medicine, 2019, 21 (6), pp.1308-1318. ⟨10.1038/s41436-018-0339-3⟩
Article dans une revue hal-01932796v1

Automatic determination of aortic compliance with cine-magnetic resonance imaging - An application of fuzzy logic theory

Alain Lalande , Philippe Khau van Kien , Nicolas Salve , Douraied Ben Salem , Louis Legrand et al.
Investigative Radiology, 2002, 37 (12), pp.685-691. ⟨10.1097/01.RLI.0000035236.69975.2A⟩
Article dans une revue hal-00789115v1

Clinical and molecular spectrum of renal malformations in Kabuki syndrome

Jean-Benoît Courcet , Laurence Faivre , Caroline Michot , Antoine Burguet , Stéphanie Perez-Martin et al.
The Journal of Pediatrics, 2013, 163 (3), pp.742--746. ⟨10.1016/j.jpeds.2013.02.032⟩
Article dans une revue hal-01064380v1
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PURA- Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum

Katrine M Johannesen , Elena Gardella , Cathrine E Gjerulfsen , Allan Bayat , Rob P W Rouhl et al.
Neurology Genetics, 2021, 7 (6), pp.e613. ⟨10.1212/nxg.0000000000000613⟩
Article dans une revue hal-03881856v1

De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome

Laurence Faivre , Philippe Khau van Kien , Patrick Callier , Nathalie Ruiz-Pallares , Corinne Baudoin et al.
European Journal of Medical Genetics, 2010, 53 (4), pp.208-212. ⟨10.1016/j.ejmg.2010.05.002⟩
Article dans une revue hal-02446647v1
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Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations.

Laurence Faivre , Alice Masurel-Paulet , Gwenaëlle Collod-Béroud , Bert L. Callewaert , Anne H. Child et al.
Pediatrics, 2009, 123 (1), pp.391-8. ⟨10.1542/peds.2008-0703⟩
Article dans une revue inserm-00396263v1
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Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.

Chantal Stheneur , Gwenaëlle Collod-Béroud , Laurence Faivre , Laurent Gouya , Gilles Sultan et al.
Human Mutation, 2008, 29 (11), pp.E284-95. ⟨10.1002/humu.20871⟩
Article dans une revue istex inserm-00343940v2

CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders

Christel Thauvin-Robinet , Anne Munck , Frédéric Huet , Alix de Becdelièvre , Clément Jimenez et al.
Journal of Medical Genetics, 2013, 50 (4), pp.220-227. ⟨10.1136/jmedgenet-2012-101427⟩
Article dans une revue istex hal-02446166v1
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Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations

Anne-Sophie Jourdain , Florence Petit , Marie-Françoise Odou , Malika Balduyck , Perrine Brunelle et al.
Human Mutation, 2020, 41 (1), pp.222-239. ⟨10.1002/humu.23912⟩
Article dans une revue hal-02393697v1

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses

Aurélie Bourchany , Christel Thauvin-Robinet , Daphne Lehalle , Ange-Line Bruel , Paul Masurel-Paulet et al.
European Journal of Medical Genetics, 2017, 60 (11), pp.595 - 604. ⟨10.1016/j.ejmg.2017.08.011⟩
Article dans une revue hal-01626052v1
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Prognosis Factors in Probands With an FBN1 Mutation Diagnosed Before the Age of 1 Year

Chantal Stheneur , Laurence Faivre , Gwenaelle Collod-Beroud , Élodie Gautier , Christine Binquet et al.
Pediatric Research, 2011, 69 (3), pp.265 - 270. ⟨10.1203/PDR.0b013e3182097219⟩
Article dans une revue hal-01670010v1