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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.
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.
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.
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.
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.
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.
Article dans une revue
hal-01669994v1
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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
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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.
Article dans une revue
hal-01680905v1
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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.
Article dans une revue
hal-01634463v1
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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.
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.
Article dans une revue
istex
hal-01669908v1
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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.
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.
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.
Article dans une revue
inserm-00344134v1
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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.
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.
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.
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.
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.
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.
Article dans une revue
hal-01932796v1
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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.
Article dans une revue
hal-00789115v1
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Clinical and molecular spectrum of renal malformations in Kabuki syndrome
Jean-Benoît Courcet
,
Laurence Faivre
,
Caroline Michot
,
Antoine Burguet
,
Stéphanie Perez-Martin
et al.
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.
Article dans une revue
hal-03881856v1
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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.
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.
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.
Article dans une revue
istex
inserm-00343940v2
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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.
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.
Article dans une revue
hal-02393697v1
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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.
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.
Article dans une revue
hal-01670010v1
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