Arnold Munnich

Arnold Munnich

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Arnold Munnich

Publications by authors named "Arnold Munnich"

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Corpus callosum metrics predict severity of visuospatial and neuromotor dysfunctions in ARID1B mutations with Coffin-Siris syndrome.

Psychiatr Genet 2019 Dec;29(6):237-242

Faculty of Medicine, University of Paris Descartes (SPC) INSERM UMR 1178/1018-CESP, University of Paris Sud-Paris Saclay, UVSQ Villejuif and Paris Descartes, SPC.

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http://dx.doi.org/10.1097/YPG.0000000000000225DOI Listing
December 2019

Expanding the clinical spectrum of mutations.

Mol Genet Metab Rep 2019 Dec 13;21:100501. Epub 2019 Aug 13.

Fédération de Génétique et Institut Imagine, Université Paris Descartes, Hôpital Necker Enfants Malades, Paris.

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http://dx.doi.org/10.1016/j.ymgmr.2019.100501DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6706677PMC
December 2019

Mitochondrial myopathy plus due to the variant m.586G > A in MT-TF.

Mol Genet Metab Rep 2019 Dec 23;21:100522. Epub 2019 Oct 23.

Fédération de Génétique et Institut Imagine, Université Paris Descartes, Hôpital Necker Enfants Malades, Paris, France.

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http://dx.doi.org/10.1016/j.ymgmr.2019.100522DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6819737PMC
December 2019

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 Aug;21(8):1897-1898

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0327-7DOI Listing
August 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 04 12;21(4):837-849. Epub 2018 Sep 12.

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0268-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752297PMC
April 2019

Prenatal diagnosis of fragile X syndrome: Small meiotic recombination events at the FMR1 locus.

Prenat Diagn 2019 04 1;39(5):388-393. Epub 2019 Apr 1.

Service de Génétique, CHRU de Tours, UMR 1253, iBrain, Université de Tours, Inserm, Tours, France.

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http://dx.doi.org/10.1002/pd.5439DOI Listing
April 2019

Mutations in TBR1 gene leads to cortical malformations and intellectual disability.

Eur J Med Genet 2018 Dec 27;61(12):759-764. Epub 2018 Sep 27.

Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR1163, Imagine Institute, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France; Pediatric Neurology, APHP- Necker Enfants Malades University Hospital, Paris, France; Reference Center "Déficiences Intellectuelles de Causes Rares", APHP- Necker Enfantes Malades University Hospital, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173079
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http://dx.doi.org/10.1016/j.ejmg.2018.09.012DOI Listing
December 2018

Pitfalls in molecular diagnosis of Friedreich ataxia.

Eur J Med Genet 2018 Aug 9;61(8):455-458. Epub 2018 Mar 9.

Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, INSERM UMR1163, Laboratoire des Maladies Mitochondriales, Paris, France; Service de Génétique, Groupe hospitalier Necker Enfants Malades, Assistance Publique -Hôpitaux de Paris, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.03.004DOI Listing
August 2018

Additive Effect of Variably Penetrant 22q11.2 Duplication and Pathogenic Mutations in Autism Spectrum Disorder: To Which Extent Does the Tree Hide the Forest?

J Autism Dev Disord 2018 08;48(8):2886-2889

Département de génétique médicale, Institut Imagine, Hôpital Necker-Enfants Malades, INSERM UMR 1163, Université Paris Descartes-Sorbonne, Paris, France.

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http://dx.doi.org/10.1007/s10803-018-3552-7DOI Listing
August 2018

Epithelial barrier dysfunction in desmoglein-1 deficiency.

J Allergy Clin Immunol 2018 08 27;142(2):702-706.e7. Epub 2018 Apr 27.

Laboratory of Genetics of Monogenic Auto-inflammatory Diseases, Necker Branch, U1163, Necker-Enfants Malades Hospital (AP-HP), Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2018.04.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6078820PMC
August 2018

Sickle SCAN™ (BioMedomics) fulfills analytical conditions for neonatal screening of sickle cell disease.

Ann Biol Clin (Paris) 2018 Aug;76(4):416-420

Département de biothérapie, Hôpital universitaire Necker-Enfants malades, AP-HP, Paris, France, Centre d'investigation clinique, Hôpitaux universitaires Paris-Ouest, AP-HP, Inserm, Paris, France.

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http://dx.doi.org/10.1684/abc.2018.1354DOI Listing
August 2018

Three human aminoacyl-tRNA synthetases have distinct sub-mitochondrial localizations that are unaffected by disease-associated mutations.

J Biol Chem 2018 08 13;293(35):13604-13615. Epub 2018 Jul 13.

From the Université de Strasbourg, CNRS, Architecture et Réactivité de l'ARN, UPR9002, F-67084 Strasbourg, France and

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http://dx.doi.org/10.1074/jbc.RA118.003400DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6120215PMC
August 2018

High predictive value of brain MRI imaging in primary mitochondrial respiratory chain deficiency.

J Med Genet 2018 Jun 22;55(6):378-383. Epub 2018 Jan 22.

Department of Pediatric Radiology, INSERM UMR 1163 and INSERM U1000, Paris Descartes University, Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1136/jmedgenet-2017-105094DOI Listing
June 2018

A clinician friendly data warehouse oriented toward narrative reports: Dr. Warehouse.

J Biomed Inform 2018 04 1;80:52-63. Epub 2018 Mar 1.

INSERM, Centre de Recherche des Cordeliers, UMR 1138 Equipe 22, Université Paris Descartes, Sorbonne Paris Cité, Paris, France; Hôpital Européen Georges Pompidou, Assistance Publique-Hôpitaux de Paris (AP-HP), Université Paris Descartes, Sorbonne Paris Cité, France.

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http://dx.doi.org/10.1016/j.jbi.2018.02.019DOI Listing
April 2018

[Evidence for the widespread use of neonatal screening for sickle cell disease].

Med Sci (Paris) 2018 Apr 16;34(4):309-311. Epub 2018 Apr 16.

Centre d'investigation clinique de biothérapie, hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 149, rue de Sèvres, 75015 Paris, France - Service de génétique, hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 149, rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1051/medsci/20183404010DOI Listing
April 2018

Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders.

J Med Genet 2018 02 28;55(2):131-136. Epub 2017 Jul 28.

Universitè Paris Descartes - Sorbonne Paris Citè, Institut Imagine, INSERM UMR1163, Laboratoire des Maladies Mitochondriales, Paris, France.

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http://dx.doi.org/10.1136/jmedgenet-2017-104615DOI Listing
February 2018

Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation.

Am J Hum Genet 2018 02;102(2):266-277

UMR 1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, 75015 Paris, France; Laboratory of Excellence GR-Ex, Institut IMAGINE, 24 Boulevard du Montparnasse, 75015 Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183000
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http://dx.doi.org/10.1016/j.ajhg.2018.01.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985451PMC
February 2018

[Misnaming things].

Authors:
Arnold Munnich

Rev Prat 2018 Jan;68(1):25-26

Institut Imagine, université Paris-Descartes et UMR Inserm1163, hôpital Necker- Enfants malades, Paris, France.

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January 2018

Severe neuroimaging anomalies are usually associated with random X inactivation in leucocytes circulating DNA in X-linked dominant Incontinentia Pigmenti.

Mol Genet Metab 2017 11 10;122(3):140-144. Epub 2017 Jul 10.

Department of Pediatric Radiology, Hôpital Necker Enfants Malades, AP-HP, 149 rue de Sèvres, 75105 Paris, France; INSERM U1000, 149 rue de Sèvres, 75015 Paris, France; UMR 1163, Institut Imagine, 24 boulevard du Montparnasse, 75015 Paris, France; University René Descartes, PRES Sorbonne Paris Cité, 12 rue de l'Ecole de Médecine, Paris, France.

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http://dx.doi.org/10.1016/j.ymgme.2017.07.001DOI Listing
November 2017

Finding patients using similarity measures in a rare diseases-oriented clinical data warehouse: Dr. Warehouse and the needle in the needle stack.

J Biomed Inform 2017 09 25;73:51-61. Epub 2017 Jul 25.

INSERM, Centre de Recherche des Cordeliers, UMR 1138 Equipe 22, Université Paris Descartes, Sorbonne Paris Cité, Paris, France; Département d'informatique médicale, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Université Paris Descartes, Sorbonne Paris Cité, France; Hôpital Européen Georges Pompidou, Assistance Publique-Hôpitaux de Paris (AP-HP), Université Paris Descartes, Sorbonne Paris Cité, France.

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http://dx.doi.org/10.1016/j.jbi.2017.07.016DOI Listing
September 2017

Compound heterozygosity for severe and hypomorphic mutations cause non-syndromic LHON-like optic neuropathy.

J Med Genet 2017 05 28;54(5):346-356. Epub 2016 Dec 28.

Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine, Paris Descartes University, Paris, France.

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http://dx.doi.org/10.1136/jmedgenet-2016-104212DOI Listing
May 2017

Low dose clozapine controls adult-onset psychosis associated with the neurogenic ataxia-retinitis pigmentosa (NARP) mutation.

Mol Genet Metab Rep 2017 Mar 13;10:20-22. Epub 2016 Dec 13.

INSERM UMR 1163, Université Paris Descartes-Sorbonne, Service de génétique clinique, Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1016/j.ymgmr.2016.12.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5157794PMC
March 2017

Authors' reply - Clozapine for mitochondrial psychosis.

Mol Genet Metab Rep 2017 Mar 6;10:101. Epub 2017 Feb 6.

INSERM UMR 1163, Université Paris Descartes-Sorbonne, Service de génétique clinique, Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1016/j.ymgmr.2017.01.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5295507PMC
March 2017

Mosaicism in ATP1A3-related disorders: not just a theoretical risk.

Neurogenetics 2017 01 10;18(1):23-28. Epub 2016 Oct 10.

Department of Pediatric Neurology, Necker Enfants Malades Hospital, APHP, 149 rue de Sèvres, 75015, Paris, France.

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http://dx.doi.org/10.1007/s10048-016-0498-9DOI Listing
January 2017

[Misnaming things adds to the world's misfortune].

Authors:
Arnold Munnich

Med Sci (Paris) 2016 Oct 19;32(10):795-796. Epub 2016 Oct 19.

Institut Imagine Université Paris Descartes et UMR Inserm1163 Hôpital Necker-Enfants Malades 149, rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1051/medsci/20163210001DOI Listing
October 2016

High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.

Eur J Hum Genet 2016 08 16;24(8):1112-6. Epub 2015 Dec 16.

Departments of Pediatric, Cardiology and Genetics and INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker-Enfants-Malades, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2015.264DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4970679PMC
August 2016

Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome.

Am J Hum Genet 2016 08 14;99(2):407-13. Epub 2016 Jul 14.

Department of Medical Genetics, Reference Center for Skeletal Dysplasia, INSERM UMR 1163, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Paris Descartes-Sorbonne Paris Cité University, AP-HP, Institut Imagine, and Hôpital Universitaire Necker-Enfants Malades, 75015 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.06.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974068PMC
August 2016

Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly.

Neurogenetics 2016 Jan 19;17(1):79-82. Epub 2015 Sep 19.

Imagine Institute, Paris Descartes - Sorbonne Paris Cité University, Paris, France.

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http://dx.doi.org/10.1007/s10048-015-0459-8DOI Listing
January 2016

Refining the phenotype associated with CASC5 mutation.

Neurogenetics 2016 Jan 1;17(1):71-8. Epub 2015 Dec 1.

INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, Necker-Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cité University, 75015, Paris, France.

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http://dx.doi.org/10.1007/s10048-015-0468-7DOI Listing
January 2016

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.

Am J Hum Genet 2015 Nov;97(5):691-707

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297150040
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http://dx.doi.org/10.1016/j.ajhg.2015.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4667131PMC
November 2015

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.

Orphanet J Rare Dis 2015 Oct 15;10:135. Epub 2015 Oct 15.

CHU Nantes, Service de Génétique Médicale, Unité de Génétique Moléculaire, 9 quai Moncousu, 44093, Nantes CEDEX 1, France.

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http://link.springer.com/content/pdf/10.1186%2Fs13023-015-03
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http://www.ojrd.com/content/10/1/135
Publisher Site
http://dx.doi.org/10.1186/s13023-015-0352-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4608180PMC
October 2015

Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells.

Mol Ther Nucleic Acids 2015 Sep 1;4:e250. Epub 2015 Sep 1.

Laboratory of Genetics in Ophthalmology, Inserm UMR1163, Institut Imagine, Université Paris Descartes Sorbonne Paris Cité, Hôpital Necker, Paris, France.

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http://dx.doi.org/10.1038/mtna.2015.24DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4877449PMC
September 2015

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

Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)].

Clin Case Rep 2015 Jul 26;3(7):604-9. Epub 2015 May 26.

Hôpital Necker - Enfants Malades, Unité INSERM 781, Laboratoire de génétique moléculaire Tour Lavoisier - 2ème étage, 149 rue de Sèvres - 75743, Paris Cedex 15, France.

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http://dx.doi.org/10.1002/ccr3.301DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4527805PMC
July 2015

Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood.

Eur J Hum Genet 2015 Jun 17;23(6):880-2. Epub 2014 Sep 17.

INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2014.192DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795040PMC
June 2015

Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.

Hum Mol Genet 2015 Jun 26;24(11):3238-47. Epub 2015 Feb 26.

Department of Pediatrics, University of Pittsburgh School of Medicine, University of Pittsburgh, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA 15224, USA Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA 15224, USA

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http://dx.doi.org/10.1093/hmg/ddv074DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424958PMC
June 2015

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.

Eur J Hum Genet 2015 May 20;23(5):621-7. Epub 2014 Aug 20.

1] INSERM U1163, Hôpital Necker-Enfants Malades, Paris, France [2] Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris, France [3] Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2014.156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402632PMC
May 2015

Contiguous mutation syndrome in the era of high-throughput sequencing.

Mol Genet Genomic Med 2015 May 18;3(3):215-20. Epub 2015 Mar 18.

INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital 75015, Paris, France.

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http://dx.doi.org/10.1002/mgg3.134DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4444163PMC
May 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

Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome.

Eur J Hum Genet 2015 Jan 23;23(1):49-53. Epub 2014 Apr 23.

Département de génétique, INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades (AP-HP), Paris, France.

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http://www.nature.com/articles/ejhg201460
Publisher Site
http://dx.doi.org/10.1038/ejhg.2014.60DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266744PMC
January 2015

Deferiprone in Friedreich ataxia: a 6-month randomized controlled trial.

Ann Neurol 2014 Oct 30;76(4):509-21. Epub 2014 Aug 30.

Department of Neurology, Erasme Hospital, Université Libre de Bruxelles, Brussels, Belgium.

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http://dx.doi.org/10.1002/ana.24248DOI Listing
October 2014

Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome.

Am J Med Genet A 2014 Jul 26;164A(7):1850-3. Epub 2014 Mar 26.

INSERM U1163, Hôpital Necker-Enfants Malades and Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.36505DOI Listing
July 2014

FGFR3 mutation causes abnormal membranous ossification in achondroplasia.

Hum Mol Genet 2014 Jun 12;23(11):2914-25. Epub 2014 Jan 12.

INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Hopital Necker-Enfants malades, Paris, France.

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http://dx.doi.org/10.1093/hmg/ddu004DOI Listing
June 2014

The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia.

PLoS Genet 2014 May 1;10(5):e1004311. Epub 2014 May 1.

Unité de Génétique Médicale et Laboratoire International associé INSERM à l'Unité UMR_S 910, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.

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http://dx.doi.org/10.1371/journal.pgen.1004311DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4006740PMC
May 2014

Data from artificial models of mitochondrial DNA disorders are not always applicable to humans.

Cell Rep 2014 May;7(4):933-4

Université Paris-Descartes; Sorbonne Paris Cité, Institut IMAGINE and INSERM U781; Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris, Cedex 15, France.

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http://dx.doi.org/10.1016/j.celrep.2014.05.005DOI Listing
May 2014

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.

Am J Hum Genet 2014 Apr 20;94(4):547-58. Epub 2014 Mar 20.

Department of Pediatric Neurology, Centre de Reference Epilepsies Rares, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France; Institut National de la Santé et de la Recherche Médicale U1129, Université Paris Descartes, 75006 Paris, France; Institut National de la Santé et de la Recherche Médicale U1129, NeuroSpin, Commissariat à l'Énergie Atomique et aux Énergies Alternatives, 91191 Gif-sur-Yvette, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297140010
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http://dx.doi.org/10.1016/j.ajhg.2014.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3980424PMC
April 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

Transcriptionally Repressive Chromatin Remodelling and CpG Methylation in the Presence of Expanded CTG-Repeats at the DM1 Locus.

J Nucleic Acids 2013 23;2013:567435. Epub 2013 Dec 23.

Inserm U781, Hôpital Broussais, Batiment Leriche, porte 9, 96 rue Didot, 75014 Paris, France ; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, 156 rue de Vaugirard, 75015 Paris, France.

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http://dx.doi.org/10.1155/2013/567435DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3884603PMC
January 2014

Regional siderosis: a new challenge for iron chelation therapy.

Front Pharmacol 2013 Dec 31;4:167. Epub 2013 Dec 31.

Department of Medical Pharmacology, EA1046, Faculty of Medicine, Lille Nord de France University and Lille University Medical Center Lille, France.

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http://dx.doi.org/10.3389/fphar.2013.00167DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3875873PMC
December 2013