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authFullName_s : Caroline Michot
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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.
Clinical Case Reports, 2021, ⟨10.1002/ccr3.4128⟩
Journal articles hal-03274483v1
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Finger creases lend a hand in Kabuki syndrome.

Caroline Michot , Carole Corsini , Damien Sanlaville , Clarisse Baumann , Annick Toutain et al.
European Journal of Medical Genetics, 2013, 56 (10), pp.556-560. ⟨10.1016/j.ejmg.2013.07.005⟩
Journal articles hal-00916763v1

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
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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.
Clinical Case Reports, 2021, 9 (9), ⟨10.1002/ccr3.4128⟩
Journal articles hal-04008076v1
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Fibrodysplasie ossifiante progressive et hétéroplasie ossifiante progressive

Geneviève Baujat , Caroline Michot , Kim-Hanh Le Quan Sang , Valérie Cormier-Daire
Revue du Rhumatisme monographies, 2019, 86, pp.40 - 45. ⟨10.1016/j.monrhu.2018.11.003⟩
Journal articles hal-03486559v1
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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.
Clinical Genetics, 2016, 89 (5), pp.584-589. ⟨10.1111/cge.12720⟩
Journal articles hal-01255844v1
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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
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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

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.
Clinical Genetics, 2019, 96 (4), pp.309-316. ⟨10.1111/cge.13591⟩
Journal articles hal-02626235v1

Growth charts in Kabuki syndrome 1

Valentin Ruault , Carole Corsini , Claire Duflos , Sandrine Akouete , Véra Georgescu et al.
American Journal of Medical Genetics Part A, 2019, 182 (3), pp.446-453. ⟨10.1002/ajmg.a.61462⟩
Journal articles hal-03388687v1

Natural history of Myhre syndrome

David Dawei Yang , Marlene Rio , Caroline Michot , Nathalie Boddaert , Wael Yacoub et al.
Orphanet Journal of Rare Diseases, 2022, 17 (1), pp.304. ⟨10.1186/s13023-022-02447-x⟩
Journal articles hal-03880497v1

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 of Medical Genetics, 2022, pp.jmedgenet-2022-108435. ⟨10.1136/jmg-2022-108435⟩
Journal articles hal-04093086v1

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 of Medical Genetics, 2018, 55 (3), pp.jmedgenet-2017-104919. ⟨10.1136/jmedgenet-2017-104919⟩
Journal articles hal-02006389v1
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Delineating FOXG1 syndrome

Nancy Vegas , Mara Cavallin , Camille Maillard , Nathalie Boddaert , Joseph Toulouse et al.
Neurology Genetics, 2018, 4 (6), pp.e281. ⟨10.1212/NXG.0000000000000281⟩
Journal articles hal-01920261v1
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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.
Human Mutation, 2010, 31 (7), pp.E1564-73. ⟨10.1002/humu.21282⟩
Journal articles hal-00552397v1

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

Targeted therapy in patients with PIK3CA-related overgrowth syndrome

Quitterie Venot , Thomas Blanc , Smail Hadj Rabia , Laureline Berteloot , Sophia Ladraa et al.
Nature, 2018, 558 (7711), pp.540 - 546. ⟨10.1038/s41586-018-0217-9⟩
Journal articles hal-01877949v1

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⟩
Journal articles hal-01064380v1

Natural history of Myhre syndrome

David Dawei Yang , Marlene Rio , Caroline Michot , Nathalie Boddaert , Wael Yacoub et al.
Orphanet Journal of Rare Diseases, 2022, 17 (1), pp.304. ⟨10.1186/s13023-022-02447-x⟩
Journal articles hal-03941105v1
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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.
Clinical Case Reports, 2021, 9 (9), ⟨10.1002/ccr3.4128⟩
Journal articles hal-04074072v1
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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.
European Journal of Medical Genetics, 2020, 63, pp.103823 -. ⟨10.1016/j.ejmg.2019.103823⟩
Journal articles hal-03489549v1

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.
American Journal of Human Genetics, 2021, 108 (6), pp.1040-1052. ⟨10.1016/j.ajhg.2021.04.013⟩
Journal articles hal-03321294v1

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.
European Journal of Human Genetics, 2018, 26 (11), pp.1611-1622. ⟨10.1038/s41431-018-0135-1⟩
Journal articles hal-01863363v1