Caroline Michot

Caroline Michot

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Caroline Michot

Caroline Michot

Publications by authors named "Caroline Michot"

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Expanding the phenotype in Adams-Oliver syndrome correlating with the genotype.

Am J Med Genet A 2020 Jan 25;182(1):29-37. Epub 2019 Oct 25.

AP-HP, Service de Génétique Clinique, Necker-Enfants malades University Hospital, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.61364DOI Listing
January 2020

A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy.

Eur J Med Genet 2019 Dec 7:103823. Epub 2019 Dec 7.

Centre de Génétique Humaine, Centre Hospitalier Régional Universitaire, Université de Franche-Comté, Besançon, France; Unité de recherche en neurosciences intégratives et cognitives EA481, Université de Franche-Comté, Besançon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103823DOI Listing
December 2019

Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review.

Clin Genet 2019 Oct 25;96(4):309-316. Epub 2019 Jun 25.

Department of Medical Genetics, Reference Center for Skeletal Dysplasia and OSCAR Network, Paris Descartes-Sorbonne Paris Cité University, INSERM UMR 1163, Instititut Imagine, Hôpital Necker Enfants Malades, Paris, France.

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https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13591
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http://dx.doi.org/10.1111/cge.13591DOI Listing
October 2019

Intermediate autosomal recessive osteopetrosis with a large noncoding deletion in SNX10: A case report.

Pediatr Blood Cancer 2019 07 12;66(7):e27751. Epub 2019 Apr 12.

UF de Génétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, Paris, France.

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http://dx.doi.org/10.1002/pbc.27751DOI Listing
July 2019

Sleep-disordered breathing in children with mucolipidosis.

Am J Med Genet A 2019 07 30;179(7):1196-1204. Epub 2019 Apr 30.

AP-HP, Hôpital Necker Enfants-Malades, Pediatric Noninvasive Ventilation and Sleep Unit, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.61167DOI Listing
July 2019

A retrospective study on sleep-disordered breathing in Morquio-A syndrome.

Am J Med Genet A 2018 12 18;176(12):2595-2603. Epub 2018 Nov 18.

Pediatric Noninvasive Ventilation and Sleep Unit, AP-HP, Hôpital Necker-Enfants Malades, Paris, France.

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http://doi.wiley.com/10.1002/ajmg.a.40642
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http://dx.doi.org/10.1002/ajmg.a.40642DOI Listing
December 2018

Identification of PITX3 mutations in individuals with various ocular developmental defects.

Ophthalmic Genet 2018 06 6;39(3):314-320. Epub 2018 Feb 6.

a UDEAR , Université de Toulouse, UMRS 1056 INSERM-Université Paul Sabatier , Toulouse , France.

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http://dx.doi.org/10.1080/13816810.2018.1430243DOI Listing
June 2018

Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1.

Birth Defects Res 2018 04 8;110(6):538-542. Epub 2018 Jan 8.

Unité d'Embryofœtopathologie, Service d'Histologie Embryologie Cytogénétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (APHP), Paris, France.

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http://doi.wiley.com/10.1002/bdr2.1191
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http://dx.doi.org/10.1002/bdr2.1191DOI Listing
April 2018

Prevalence of fibrodysplasia ossificans progressiva (FOP) in France: an estimate based on a record linkage of two national databases.

Orphanet J Rare Dis 2017 06 30;12(1):123. Epub 2017 Jun 30.

Institut Imagine, Centre de Référence Maladies Osseuses Constitutionnelles, Université Paris Descartes-Sorbonne Paris Cité, Hôpital Necker-Enfants malades, 149 rue de Sèvres, 75015, Paris, France.

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http://ojrd.biomedcentral.com/articles/10.1186/s13023-017-06
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http://dx.doi.org/10.1186/s13023-017-0674-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5493013PMC
June 2017

Sleep-disordered breathing and its management in children with achondroplasia.

Am J Med Genet A 2017 Apr 27;173(4):868-878. Epub 2017 Feb 27.

AP-HP, Hôpital Necker-Enfants malades, Pediatric Noninvasive Ventilation and Sleep Unit, Paris, France.

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http://doi.wiley.com/10.1002/ajmg.a.38130
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http://dx.doi.org/10.1002/ajmg.a.38130DOI Listing
April 2017

RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability.

Am J Med Genet A 2015 Aug 6;167A(8):1908-12. Epub 2015 Apr 6.

Service de Génétique, INSERM U781, Hôpital Necker-Enfants Malades, Institut Imagine, University Sorbonne-Paris-Cité, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.37094DOI Listing
August 2015

Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome.

Hum Mol Genet 2014 Nov 10;23(21):5763-73. Epub 2014 Jun 10.

INSERM, UMR_S 938, CDR Saint-Antoine, Paris F-75012, France, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, Paris F-75012, France, Pediatric Endocrinology, APHP, Armand Trousseau Hospital, Paris, France,

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http://dx.doi.org/10.1093/hmg/ddu290DOI Listing
November 2014

Parental mosaicism is a pitfall in preimplantation genetic diagnosis of dominant disorders.

Eur J Hum Genet 2014 May 11;22(5):711-2. Epub 2013 Sep 11.

1] Unité Université Paris Descartes-Sorbonne Paris Cité, Institut imagine, INSERM-U781, Paris, France [2] Service de génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2013.164DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3992558PMC
May 2014

Fatal rhabdomyolysis in 2 children with LPIN1 mutations.

J Pediatr 2012 Jun 4;160(6):1052-4. Epub 2012 Apr 4.

Pediatric Intensive Care Unit, Assistance publique des hôpitaux de Paris, Hospital Necker Enfants Malades, Paris, France.

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http://dx.doi.org/10.1016/j.jpeds.2012.02.033DOI Listing
June 2012