Celine Huber

Celine Huber

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Celine Huber

Celine Huber

Publications by authors named "Celine Huber"

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

Am J Med Genet A 2019 Oct 25. 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
October 2019

Heterozygous FGFR1 mutation may be responsible for an incomplete form of osteoglophonic dysplasia, characterized only by radiolucent bone lesions and teeth retentions.

Eur J Med Genet 2019 Jul 15:103729. Epub 2019 Jul 15.

Department of Medical Genetics, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, IMAGINE Institute, Necker Enfants Malades Hospital, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103729DOI Listing
July 2019

Mutations in IFT80 cause SRPS Type IV. Report of two families and review.

Am J Med Genet A 2019 Apr 14;179(4):639-644. Epub 2019 Feb 14.

Reference Center for Skeletal Dysplasia, AP-HP, Necker-Enfants Malades Hospital, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.61050DOI Listing
April 2019

Serum bikunin is a biomarker of linkeropathies.

Clin Chim Acta 2018 Oct 30;485:178-180. Epub 2018 Jun 30.

Biochimie Métabolique et Cellulaire, AP-HP, Hôpital Bichat-Claude Bernard, Paris, France; Paris Descartes University, France.

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https://linkinghub.elsevier.com/retrieve/pii/S00098981183033
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http://dx.doi.org/10.1016/j.cca.2018.06.044DOI Listing
October 2018

Fibroblasts derived from patients with opsismodysplasia display SHIP2-specific cell migration and adhesion defects.

Hum Mutat 2017 12 21;38(12):1731-1739. Epub 2017 Sep 21.

IRIBHM, Campus Erasme, ULB Bâtiment C, Bruxelles, Belgium.

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http://dx.doi.org/10.1002/humu.23321DOI Listing
December 2017

Energy expenditure estimation from respiration variables.

Sci Rep 2017 11 22;7(1):15995. Epub 2017 Nov 22.

Swiss Federal Institute of Sport Magglingen SFISM, Magglingen, Switzerland.

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http://dx.doi.org/10.1038/s41598-017-16135-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5700096PMC
November 2017

Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region.

J Hum Genet 2017 Feb 8;62(2):229-234. Epub 2016 Sep 8.

Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, Spain.

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http://dx.doi.org/10.1038/jhg.2016.113DOI Listing
February 2017

Feasibility of cardiopulmonary exercise testing and training using a robotics-assisted tilt table in dependent-ambulatory stroke patients.

J Neuroeng Rehabil 2015 Sep 26;12:88. Epub 2015 Sep 26.

Institute for Rehabilitation and Performance Technology, Division of Mechanical Engineering, Department of Engineering and Information Technology, Bern University of Applied Sciences, Burgdorf, Switzerland.

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http://dx.doi.org/10.1186/s12984-015-0078-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4583724PMC
September 2015

Mutations in SNRPB, encoding components of the core splicing machinery, cause cerebro-costo-mandibular syndrome.

Hum Mutat 2015 Feb 11;36(2):187-90. Epub 2014 Dec 11.

Department of Genetics, INSERM U1163, Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, Hôpital Necker-Enfants Malades (AP-HP), Paris, France.

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http://dx.doi.org/10.1002/humu.22729DOI Listing
February 2015

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.

Am J Hum Genet 2014 Dec;95(6):763-70

Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.11.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259972PMC
December 2014

XYLT1 mutations in Desbuquois dysplasia type 2.

Am J Hum Genet 2014 Mar 27;94(3):405-14. Epub 2014 Feb 27.

Department of Genetics, INSERM U781, Université Paris Descartes- Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades (AP-HP), Paris 75015, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.01.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3951945PMC
March 2014

WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia.

Am J Hum Genet 2013 Nov 31;93(5):926-31. Epub 2013 Oct 31.

Department of Genetics, INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades (AP-HP), Paris 75015, France.

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http://dx.doi.org/10.1016/j.ajhg.2013.10.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3824112PMC
November 2013

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.

Am J Hum Genet 2013 Jan 27;92(1):144-9. Epub 2012 Dec 27.

Département de Génétique, Unité INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Fondation Imagine, Hôpital Necker Enfants Malades, Paris 75015, France.

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http://dx.doi.org/10.1016/j.ajhg.2012.11.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3542463PMC
January 2013

IMPAD1 mutations in two Catel-Manzke like patients.

Am J Med Genet A 2012 Sep 6;158A(9):2183-7. Epub 2012 Aug 6.

Département de génétique, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.35504DOI Listing
September 2012

Ciliary disorder of the skeleton.

Am J Med Genet C Semin Med Genet 2012 Aug 12;160C(3):165-74. Epub 2012 Jul 12.

Département de génétique, INSERM U 781, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades (AP-HP), 75015 Paris, France.

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http://dx.doi.org/10.1002/ajmg.c.31336DOI Listing
August 2012

Hip dislocation in 3-M syndrome: risk of misdiagnosis.

Clin Dysmorphol 2011 Apr;20(2):114-6

Department of Pediatric Orthopedics, INSERM U781-Université Paris Descartes, Hôpital Necker Enfants Malades, Paris, France.

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http://dx.doi.org/10.1097/MCD.0b013e328343f958DOI Listing
April 2011

The 3M syndrome.

Best Pract Res Clin Endocrinol Metab 2011 Feb;25(1):143-51

Department of Genetics, Paris Descartes University, INSERM U781, Hôpital Necker Enfants Malades, 149 rue de Sèvres, Paris, France.

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http://dx.doi.org/10.1016/j.beem.2010.08.015DOI Listing
February 2011

A new osteogenesis imperfecta with improvement over time maps to 11q.

Am J Med Genet A 2008 Jul;146A(14):1807-14

Paris Descartes University, Inserm U781, Hôpital Necker-Enfants Malades, Paris Cedex 15, France.

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http://dx.doi.org/10.1002/ajmg.a.32379DOI Listing
July 2008

Severe, atypical form of dyschondrosteosis (report of two cases).

Eur J Pediatr 2005 Sep 10;164(9):539-43. Epub 2005 Jun 10.

Department of Radiology, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.

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http://dx.doi.org/10.1007/s00431-005-1691-2DOI Listing
September 2005

A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophy.

Hum Mol Genet 2002 May;11(9):1017-27

INSERM U393, IRNEM Institute, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, 75743 Paris Cédex 15, France.

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http://dx.doi.org/10.1093/hmg/11.9.1017DOI Listing
May 2002