Sandrine Marlin

Sandrine Marlin

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Sandrine Marlin

Sandrine Marlin

Publications by authors named "Sandrine Marlin"

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

Eur J Med Genet 2019 Sep 16:103768. 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
September 2019

Psychosocial determinants associated with quality of life in people with usher syndrome. A scoping review.

Disabil Rehabil 2019 Apr 12:1-12. Epub 2019 Apr 12.

a Denis Diderot - Sorbonne Paris Cité , Université VII , Paris , France.

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http://dx.doi.org/10.1080/09638288.2019.1571637DOI Listing
April 2019

Severity of Retrognathia and Glossoptosis Does Not Predict Respiratory and Feeding Disorders in Pierre Robin Sequence.

Front Pediatr 2018 20;6:351. Epub 2018 Nov 20.

Department of Pediatrics, APHP, Hôpital Universitaire Necker-Enfants Malades, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.

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http://dx.doi.org/10.3389/fped.2018.00351DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6256711PMC
November 2018

Unilateral Sensorineural Hearing Loss: Medical Context and Etiology.

Audiol Neurootol 2017 22;22(2):83-88. Epub 2017 Jul 22.

Department of Pediatric Otolaryngology, Necker Enfants-Malades Hospital, Paris, France.

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http://dx.doi.org/10.1159/000474928DOI Listing
August 2018

[Genetic hearing loss].

Presse Med 2017 Nov 28;46(11):1089-1096. Epub 2017 Oct 28.

AP-HP, hôpital Bicêtre, service d'oto-rhino-laryngologie et de chirurgie cervicofaciale, 78, rue du Général-Leclerc, 94270 Le Kremlin-Bicêtre, France; Université Paris-Saclay, faculté de médecine, 94275 Le Kremlin-Bicêtre, France; Faculté de médecine Paris-Sud, Inserm U1185, 94270 Le Kremlin-Bicêtre, France. Electronic address:

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http://dx.doi.org/10.1016/j.lpm.2017.09.005DOI Listing
November 2017

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

Defining a new aggressiveness classification and using NFATc1 localization as a prognostic factor in cherubism.

Hum Pathol 2016 12 3;58:62-71. Epub 2016 Aug 3.

INSERM, UMRS 1138, Centre de Recherche de Cordeliers, Molecular Oral Pathology, 75006 Paris, France; Université Paris Descartes, 75006 Paris, France; APHP, Necker Enfants Malades, Service de Chirurgie Maxillo-Faciale et Plastique, 75015 Paris, France; APHP, CRMR des Malformations Rares de la Face et de la Cavité Buccale, 75015 Paris, France.

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http://dx.doi.org/10.1016/j.humpath.2016.07.019DOI Listing
December 2016

Mutations in , encoding the myelin transcription factor 1, are a rare cause of OAVS.

J Med Genet 2016 Nov 29;53(11):752-760. Epub 2016 Jun 29.

University of Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), U 1211 INSERM, Bordeaux, France.

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http://dx.doi.org/10.1136/jmedgenet-2016-103774DOI Listing
November 2016

A case of mild CHARGE syndrome associated with a splice site mutation in CHD7.

Eur J Med Genet 2016 Apr 24;59(4):195-7. Epub 2016 Feb 24.

Centre de référence des surdités génétiques, Service de Génétique, Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2016.02.012DOI Listing
April 2016

Pediatric cochlear implantation in residual hearing candidates.

Ann Otol Rhinol Laryngol 2015 Jun 13;124(6):443-51. Epub 2015 Jan 13.

Hôpital Necker Enfants Malades, Département d'otorhinolaryngologie, Paris, France.

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http://dx.doi.org/10.1177/0003489414566121DOI Listing
June 2015

The calcineurin inhibitor tacrolimus as a new therapy in severe cherubism.

J Bone Miner Res 2015 May;30(5):878-85

Institut National de la Santé et de la Recherche Médicale (INSERM) UMRS1138, Team Molecular Oral Pathophysiology, Cordeliers Research Center, University Paris-Diderot, University Paris-Descartes, and University Pierre and Marie Curie, Paris, France; Service de Chirurgie Maxillo-Faciale, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France; Unités de Formation et de Recherche (UFR) de Médecine Paris Descartes, Université Paris V, Paris, France; Centre de Références des Malformations de la Face et de la Cavité Buccale, Paris, France; Laboratoire de Physiopathologie Orale et Moléculaire, INSERM, UMRS 872, Equipe 5, Centre de Recherche des Cordeliers, Paris, France.

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http://dx.doi.org/10.1002/jbmr.2431DOI Listing
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

The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells.

EMBO Mol Med 2014 Jul;6(7):984-92

Unité de Génétique et Physiologie de l'Audition, Institut Pasteur, Paris, France UMRS 1120, Institut National de la Santé et de la Recherche Médicale (INSERM), Paris, France Université Pierre et Marie Curie (Paris VI), Paris, France Syndrome de Usher et autres Atteintes Rétino-Cochléaires, Institut de la vision, Paris, France Collège de France, Paris, France

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http://dx.doi.org/10.15252/emmm.201403976DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4119359PMC
July 2014

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

Congenital cytomegalovirus is the second most frequent cause of bilateral hearing loss in young French children.

J Pediatr 2013 Mar 26;162(3):593-9. Epub 2012 Sep 26.

Laboratory of Virology, Reference National Center for Cytomegalovirus-Associated Laboratory, Hospital Necker-Enfants-Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; University Paris, Descartes, Sorbonne Paris Cité, Paris, France.

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http://dx.doi.org/10.1016/j.jpeds.2012.08.009DOI Listing
March 2013

Cochlear implantation and congenital deafness: perceptive and lexical results in 2 genetically pediatric identified population.

Otol Neurotol 2012 Jun;33(4):539-44

Service d'Otorhinolaryngologie et de Chirurgie Cervico-Faciale, Hôpital d'Enfants Armand-Trousseau, AP-HP, Paris, France.

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http://dx.doi.org/10.1097/MAO.0b013e31824bae35DOI Listing
June 2012

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

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

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.

Nat Genet 2011 Dec 11;44(1):85-8. Epub 2011 Dec 11.

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

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http://dx.doi.org/10.1038/ng.1016DOI Listing
December 2011

A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation.

Eur J Med Genet 2011 May-Jun;54(3):287-91. Epub 2010 Dec 31.

Service de Génétique et Embryologie médicales, Hôpital Armand Trousseau, APHP, UPMC, Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2010.12.006DOI Listing
September 2011

Facial, lingual, and pharyngeal electromyography in infants with Pierre Robin sequence.

Muscle Nerve 2011 Jun 7;43(6):866-71. Epub 2011 Apr 7.

Clinical Neurophysiology Unit, Hôpital Armand-Trousseau, AP-HP, 28 avenue Arnold-Netter, 75571 Paris 12, France.

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http://dx.doi.org/10.1002/mus.21991DOI Listing
June 2011

Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum.

Am J Med Genet A 2010 Aug;152A(8):1984-9

Laboratoire de Génétique Humaine (EA4137), Université Victor Segalen Bordeaux 2, Bordeaux, France.

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http://doi.wiley.com/10.1002/ajmg.a.33491
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http://dx.doi.org/10.1002/ajmg.a.33491DOI Listing
August 2010

Review and update of mutations causing Waardenburg syndrome.

Hum Mutat 2010 Apr;31(4):391-406

INSERM Unité U955, Département de Génétique, Laboratoire de Biochimie et Génétique, Hôpital Henri Mondor, Créteil, France.

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http://dx.doi.org/10.1002/humu.21211DOI Listing
April 2010

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

Usher syndrome type 1: early detection of electroretinographic changes.

Eur J Paediatr Neurol 2009 Nov 9;13(6):505-7. Epub 2008 Nov 9.

Pediatric Neurophysiology unit, AP-HP, Hôpital Armand-Trousseau, Paris, France.

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http://dx.doi.org/10.1016/j.ejpn.2008.10.002DOI Listing
November 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

Mycophenolate mofetil as a treatment of steroid dependent Cogan's syndrome in childhood.

Int J Pediatr Otorhinolaryngol 2009 Oct 4;73(10):1477-9. Epub 2009 Aug 4.

Service d'ORL, de chirurgie cervico-faciale et d'audiophonologie de l'enfant, Hôpital d'Enfants Armand Trousseau, 26 av Dr. Arnold Netter, 75012 Paris, France.

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http://dx.doi.org/10.1016/j.ijporl.2009.06.025DOI Listing
October 2009

Velopharyngoplasty for noncleft velopharyngeal insufficiency: results in relation to 22q11 microdeletion.

Arch Otolaryngol Head Neck Surg 2009 Jul;135(7):652-6

Service d'Otorhinolaryngologie et de Chirurgie Cervico-Faciale, Hôpital d'Enfants Armand-Trousseau, APHP and UPMC Univ Paris 6, 26 avenue Arnold Netter, 75571 Paris Cedex 12, France.

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http://archotol.jamanetwork.com/article.aspx?doi=10.1001/arc
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http://dx.doi.org/10.1001/archoto.2009.64DOI Listing
July 2009

[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

Hallerman-Streiff-like syndrome presenting with laterality and cardiac defects.

Clin Dysmorphol 2009 Apr;18(2):116-9

Department of Medical genetics, National Reference Center for Congenital Anomalies of Development, Université Victor Segalen Bordeaux, Paris, France.

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http://dx.doi.org/10.1097/MCD.0b013e32831da7abDOI Listing
April 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

Cochlear implant and inner ear malformation. Proposal for an hyperosmolar therapy at surgery.

Int J Pediatr Otorhinolaryngol 2008 Apr 20;72(4):541-7. Epub 2008 Feb 20.

ENT Department, Armand-Trousseau Children's Hospital, Paris, France.

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http://linkinghub.elsevier.com/retrieve/pii/S016558760800012
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http://dx.doi.org/10.1016/j.ijporl.2008.01.004DOI Listing
April 2008

Evaluation of cytomegalovirus (CMV) DNA quantification in dried blood spots: retrospective study of CMV congenital infection.

J Clin Microbiol 2007 Nov 26;45(11):3804-6. Epub 2007 Sep 26.

Service de Microbiologie Immunologie Biologique, Assistance Publique-Hôpitaux de Paris, Hôpital Antoine Béclère, Université Paris Sud 11, Clamart, France.

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http://jcm.asm.org/cgi/doi/10.1128/JCM.01654-07
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http://dx.doi.org/10.1128/JCM.01654-07DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2168533PMC
November 2007

Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients.

Clin Dysmorphol 2007 Oct;16(4):247-52

Cytogenetics Laboratory, AP-HP, Saint-Antoine's Hospital, Pierre and Marie Curie University, Paris, France.

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http://dx.doi.org/10.1097/MCD.0b013e328235a572DOI Listing
October 2007

Usher syndrome and cochlear implantation.

Otol Neurotol 2003 Mar;24(2):216-21

Service d'Otorhinolaryngologie et de chirurgie cervico-faciale, Hôpital d'enfants Armand-Trousseau, Paris, France.

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http://dx.doi.org/10.1097/00129492-200303000-00015DOI Listing
March 2003