Publications by authors named "Laurence Jonard"

33Publications

PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.

Eur J Med Genet 2020 Nov 8;63(11):104033. Epub 2020 Aug 8.

Centre de Référence des Surdités Génétiques, Institut Imagine, Hôpital Necker-Enfants Malades, AP-HP.Centre, Paris, France; Fédération de Génétique, Hôpital Necker-Enfants Malades, AP-HP.Centre, Paris, France; Laboratoire d'Embryologie et de Génétique des Malformations Congénitales, INSERM UMR 1163, Institut Imagine, Université Paris Descartes, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.104033DOI Listing
November 2020

MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review.

Eur J Med Genet 2020 Mar 16;63(3):103768. Epub 2019 Sep 16.

Génétique Médicale, Centre de Référence des Surdités Génétiques, Institut Imagine, Hôpital Necker, AP-HP, Paris, France; INSERM, UMR-1163, Institut Imagine Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2019.103768DOI Listing
March 2020

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.

Am J Hum Genet 2017 Oct 28;101(4):630-637. Epub 2017 Sep 28.

UMR 1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, 75015 Paris, France; Centre de Référence des Surdités Génétiques, Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France; Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5630197PMC
October 2017

Noonan Syndrome: An Underestimated Cause of Severe to Profound Sensorineural Hearing Impairment. Which Clues to Suspect the Diagnosis?

Otol Neurotol 2017 09;38(8):1081-1084

*APHP, Hôpital Necker Enfants Malades, Centre de référence des surdités génétiques, Service de Génétique Médicale †APHP, Hôpital Necker Enfants Malades, Service d'otorhinolaryngologie ‡APHP, Hôpital Necker Enfants Malades, Centre de référence des surdités génétiques, Laboratoire de Génétique moléculaire §APHP, Hôpital Robert Debré ||APHP, Hôpital Necker-Enfants malades, Département de Génétique, Paris, France.

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http://dx.doi.org/10.1097/MAO.0000000000001509DOI Listing
September 2017

H syndrome with histological features of Langerhans cell histiocytosis.

Indian J Dermatol Venereol Leprol 2016 Nov-Dec;82(6):702-704

Department of Dermatology, Anatomy and Cytology, Farhat Hached Hospital, Sousse, Tunisia.

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http://dx.doi.org/10.4103/0378-6323.185044DOI Listing
May 2017

Novel homozygous SLC29A3 mutations among two unrelated Egyptian families with spectral features of H-syndrome.

Pediatr Diabetes 2015 Jun 4;16(4):305-16. Epub 2014 Jun 4.

Genetics Unit, Pediatrics Department, Faculty of Medicine, Mansoura University, Mansoura, Egypt.

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http://dx.doi.org/10.1111/pedi.12160DOI Listing
June 2015

Discovery of a large deletion of KAL1 in 2 deaf brothers.

Otol Neurotol 2013 Dec;34(9):1590-4

*Centre de référence des surdités génétiques, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris; †Service de Génétique médicale, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris; ‡INSERM UMRS1120; §Département de génétique et d'embryologie médicales, INSERM U933, Hôpital Armand Trousseau, Assistance Publique Hôpitaux de Paris, Paris; ∥Département de génétique clinique, CHU de Nantes; ¶Service d'ORL pédiatrique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris; #Laboratoire de Génétique moléculaire, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris; **Institut de la Vision; ††UPMC, Université Pierre et Marie Curie, Paris 6; and ‡‡Laboratoire de biochimie et biologie moléculaire, Hôpital Trousseau, Assistance Publique Hôpitaux de Paris, Paris, France.

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https://insights.ovid.com/crossref?an=00129492-201312000-000
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http://dx.doi.org/10.1097/MAO.0000000000000228DOI Listing
December 2013

Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss.

Gene 2013 Aug 13;525(1):1-4. Epub 2013 May 13.

Laboratoire de Génomique Biomédicale et Oncogénétique, Institut Pasteur de Tunis, BP 74, 13 Place Pasteur, Tunis 1002, Tunisia.

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http://dx.doi.org/10.1016/j.gene.2013.04.078DOI Listing
August 2013

Mutation in the SLC29A3 gene: a new cause of a monogenic, autoinflammatory condition.

Pediatrics 2013 Apr 25;131(4):e1308-13. Epub 2013 Mar 25.

Department of Pediatric Immunology and Rheumatology (UIH), Hôpital Necker-Enfants Malades, 149 rue de Sèvres, F-75743 Paris, France.

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http://pediatrics.aappublications.org/content/pediatrics/131
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http://pediatrics.aappublications.org/cgi/doi/10.1542/peds.2
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http://dx.doi.org/10.1542/peds.2012-2255DOI Listing
April 2013

Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss.

Hum Mutat 2012 Apr 14;33(4):681-9. Epub 2012 Feb 14.

INSERM-U688 Physiopathologie Mitochondriale, Université Victor Segalen Bordeaux 2,146 rue Léo Saignat, Bordeaux, F-33076 France.

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http://dx.doi.org/10.1002/humu.22023DOI Listing
April 2012

Next generation sequencing: the technology we need in pediatric laboratories?

Clin Biochem 2011 May;44(7):514-515

Associate Professor of Biochemistry, Faculty of Pharmacy ,1, rue des Louvels, 80037 Amiens cedex, France.

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http://dx.doi.org/10.1016/j.clinbiochem.2011.02.030DOI Listing
May 2011

BAL fluid surfactant protein C level is related to parenchymal lung disease in children with sarcoidosis.

Chest 2011 Oct;140(4):1104-1105

Université Paris-Est Créteil Val de Marne, Créteil, France; INSERM, Unité U955, Créteil, France; Centre Hospitalier Intercommunal, Créteil, France. Electronic address:

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http://dx.doi.org/10.1378/chest.11-0681DOI Listing
October 2011

Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype.

Eur J Med Genet 2012 Jan 23;55(1):56-8. Epub 2011 Aug 23.

Centre de référence des surdités génétiques, Trousseau Hospital, Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2011.06.009DOI Listing
January 2012

Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever!

Biochem Biophys Res Commun 2010 Apr 16;394(3):737-42. Epub 2010 Mar 16.

AP-HP, Service de Génétique Clinique, Hôpital Armand-Trousseau, Paris, France.

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http://dx.doi.org/10.1016/j.bbrc.2010.03.062DOI Listing
April 2010

[Genetic deafness in adults].

Rev Prat 2009 May;59(5):630-1

Centre de référence des surdités génétiques, AP-HP, 75571 Paris Cedex.

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May 2009

A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss.

Eur J Med Genet 2009 Jul-Aug;52(4):195-200. Epub 2008 Dec 13.

Laboratoire de Biochimie, INSERM, U587, Centre de Référence des Surdités Génétiques, AP-HP, Hôpital Armand-Trousseau, 26 Avenue du Docteur-Arnold-Netter, 75012 Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2008.11.006DOI Listing
November 2009

A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E.

Eur J Med Genet 2008 Jan-Feb;51(1):35-43. Epub 2007 Oct 4.

Laboratoire de Biochimie, Inserm U587, Centre de Référence des Surdités Génétiques, Hôpital Armand-Trousseau, AP-HP, 24 av du Dr A Netter, Paris 75012, France.

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http://dx.doi.org/10.1016/j.ejmg.2007.09.005DOI Listing
June 2008

Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiency.

Am J Med Genet A 2007 Dec;143A(23):2796-803

Service de Biochime et Biologie Moléculaire, Hôpital d'Enfants Armand-Trousseau, AP-HP, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.31768DOI Listing
December 2007

BTG2 antiproliferative protein interacts with the human CCR4 complex existing in vivo in three cell-cycle-regulated forms.

J Cell Sci 2003 Jul 27;116(Pt 14):2929-36. Epub 2003 May 27.

Unité INSERM U590, Centre Léon Bérard, 69373 Lyon Cedex 08, France.

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http://dx.doi.org/10.1242/jcs.00480DOI Listing
July 2003