A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1 ‐related overlap disorder
Malika Foy
,
Philippe de Mazancourt
,
Corinne Métay
,
Robert Carlier
,
Valérie Allamand
et al.
Journal articles
hal-03274483v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
Finger creases lend a hand in Kabuki syndrome.
Caroline Michot
,
Carole Corsini
,
Damien Sanlaville
,
Clarisse Baumann
,
Annick Toutain
et al.
Journal articles
hal-00916763v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
Enriching UMLS-Based Phenotyping of Rare Diseases Using Deep-Learning: Evaluation on Jeune Syndrome
Carole Faviez
,
Marc Vincent
,
Nicolas Garcelon
,
Caroline Michot
,
Genevieve Baujat
et al.
Challenges of Trustable AI and Added-Value on Health , IOS Press, 2022, Studies in Health Technology and Informatics,
⟨10.3233/SHTI220604⟩
Book sections
hal-03886930v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1 ‐related overlap disorder
Malika Foy
,
Philippe de Mazancourt
,
Corinne Métay
,
Robert Carlier
,
Valérie Allamand
et al.
Journal articles
hal-04008076v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
Fibrodysplasie ossifiante progressive et hétéroplasie ossifiante progressive
Geneviève Baujat
,
Caroline Michot
,
Kim-Hanh Le Quan Sang
,
Valérie Cormier-Daire
Journal articles
hal-03486559v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome
Mathilde Nizon
,
Marcia Henry
,
Caroline Michot
,
Clarisse Baumann
,
Anne Bazin
et al.
Journal articles
hal-01255844v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
LPIN1 - étude génétique d'une nouvelle cause de rhabdomyolyse héréditaire et analyses physiopathologiques à partir de myoblastes de patients
Caroline Michot
Médecine humaine et pathologie. Université René Descartes - Paris V, 2013. Français.
⟨NNT : 2013PA05T058⟩
Theses
tel-00931712v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish
Deepak Khatri
,
Audrey Putoux
,
Audric Cologne
,
Sophie Kaltenbach
,
Alicia Besson
et al.
Proceedings of the National Academy of Sciences of the United States of America , 2023, 120 (9), pp.e2102569120.
⟨10.1073/pnas.2102569120⟩
Journal articles
hal-04021151v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review
Varoona Bizaoui
,
Caroline Michot
,
Geneviève Baujat
,
Cyril Amouroux
,
Sabine Baron
et al.
Journal articles
hal-02626235v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
Growth charts in Kabuki syndrome 1
Valentin Ruault
,
Carole Corsini
,
Claire Duflos
,
Sandrine Akouete
,
Véra Georgescu
et al.
Journal articles
hal-03388687v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
Natural history of Myhre syndrome
David Dawei Yang
,
Marlene Rio
,
Caroline Michot
,
Nathalie Boddaert
,
Wael Yacoub
et al.
Journal articles
hal-03880497v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals
Marion Aubert-Mucca
,
Céline Huber
,
Genevieve Baujat
,
Caroline Michot
,
Mohammed Zarhrate
et al.
Journal articles
hal-04093086v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences
Solveig Heide
,
Sandra Chantot-Bastaraud
,
Boris Keren
,
Madeleine D Harbison
,
Salah Azzi
et al.
Journal articles
hal-02006389v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
Delineating FOXG1 syndrome
Nancy Vegas
,
Mara Cavallin
,
Camille Maillard
,
Nathalie Boddaert
,
Joseph Toulouse
et al.
Journal articles
hal-01920261v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood.
Caroline Michot
,
Laurence Hubert
,
Michele Brivet
,
Linda de Meirleir
,
Vassili Valayannopoulos
et al.
Journal articles
hal-00552397v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
Enriching UMLS-Based Phenotyping of Rare Diseases Using Deep-Learning: Evaluation on Jeune Syndrome
Carole Faviez
,
Marc Vincent
,
Nicolas Garcelon
,
Caroline Michot
,
Genevieve Baujat
et al.
Challenges of Trustable AI and Added-Value on Health , 294, IOS Press; IOS Press, pp.844-848, 2022, Studies in Health Technology and Informatics,
⟨10.3233/SHTI220604⟩
Book sections
hal-03790710v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
Targeted therapy in patients with PIK3CA-related overgrowth syndrome
Quitterie Venot
,
Thomas Blanc
,
Smail Hadj Rabia
,
Laureline Berteloot
,
Sophia Ladraa
et al.
Journal articles
hal-01877949v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
Clinical and molecular spectrum of renal malformations in Kabuki syndrome
Jean-Benoît Courcet
,
Laurence Faivre
,
Caroline Michot
,
Antoine Burguet
,
Stéphanie Perez-Martin
et al.
Journal articles
hal-01064380v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
Natural history of Myhre syndrome
David Dawei Yang
,
Marlene Rio
,
Caroline Michot
,
Nathalie Boddaert
,
Wael Yacoub
et al.
Journal articles
hal-03941105v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1 ‐related overlap disorder
Malika Foy
,
Philippe de Mazancourt
,
Corinne Métay
,
Robert Carlier
,
Valérie Allamand
et al.
Journal articles
hal-04074072v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy
Emilien Faudi
,
Elise Brischoux-Boucher
,
Céline Huber
,
Thibaud Dabudyk
,
Marion Lenoir
et al.
Journal articles
hal-03489549v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction
Bobby Ng
,
Paulina Sosicka
,
François Fenaille
,
Annie Harroche
,
Sandrine Vuillaumier-Barrot
et al.
Journal articles
hal-03321294v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A from acrodysostosis to acroscyphodysplasia
Caroline Michot
,
Carine Le Goff
,
Edward Blair
,
Patricia Blanchet
,
Yline Capri
et al.
Journal articles
hal-01863363v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More