Marlin, Sandrine: search on Z-Library

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1

Prenatal evaluation of the middle ear and diagnosis of middle ear hypoplasia using MRI

Eldad Katorza, Catherine Nahama-Allouche, Vanina Castaigne, Marie Gonzales, Eva Galliani, Sandrine Marlin, Jean-Marie Jouannic, Jonathan Rosenblatt, Hubert Ducou le Pointe, Catherine Garel

Journal:

Pediatric Radiology

Year:

2011

Language:

english

File:

PDF, 319 KB

english, 2011

2

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

Caroline Rooryck, Noui Souakri, Dorothée Cailley, Julie Bouron, Cyril Goizet, Marie-Ange Delrue, Sandrine Marlin, Feclad Didier Lacombe, Benoît Arveiler

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 95 KB

english, 2010

3

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

Delphine Feldmann, Cédric Le Maréchal, Laurence Jonard, Patrick Thierry, Cécile Czajka, Remy Couderc, Claude Ferec, Françoise Denoyelle, Sandrine Marlin, Florence Fellmann

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 429 KB

english, 2009

4

Mutations in SNRPB , Encoding Components of the Core Splicing Machinery, Cause Cerebro-Costo-Mandibular Syndrome

Bacrot, Séverine, Doyard, Mathilde, Huber, Céline, Alibeu, Olivier, Feldhahn, Niklas, Lehalle, Daphné, Lacombe, Didier, Marlin, Sandrine, Nitschke, Patrick, Petit, Florence, Vazquez, Marie-Paule, Munn

Journal:

Year:

2015

Language:

english

File:

PDF, 465 KB

english, 2015

5

Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling

Francoise Denoyelle, Sandrine Marlin, Dominique Weil, Lucien Moatti, Pierre Chauvin, Éréa-Noël Garabédian, Christine Petit

Journal:

Year:

1999

Language:

english

File:

PDF, 132 KB

english, 1999

6

Townes-Brocks syndrome: Detection of a SALL1 mutation hot spot and evidence for a position effect in one patient

Sandrine Marlin, Stéphane Blanchard, Rima Slim, Didier Lacombe, Françoise Denoyelle, Jean-Louis Alessandri, Elisa Calzolari, Valérie Drouin-Garraud, F.G. Ferraz, Alain Fourmaintraux, Nicole Philip, Je

Journal:

Year:

1999

Language:

english

File:

PDF, 2.18 MB

english, 1999

7

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

Crystel Bonnet, M’hamed Grati, Sandrine Marlin, Jacqueline Levilliers, Jean-Pierre Hardelin, Marine Parodi, Magali Niasme-Grare, Diana Zelenika, Marc Délépine, Delphine Feldmann, Laurence Jonard, Aziz

Journal:

Orphanet Journal of Rare Diseases

Year:

2011

Language:

english

File:

PDF, 2.07 MB

english, 2011

8

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

Capucine Hyon, Sandrine Marlin, Sandra Chantot-Bastaraud, Philippe Mabboux, Marie-Paule Beaujard, Essam Al Ageeli, Marie-Paule Vazquez, Arnaud Picard, Jean-Pierre Siffroi, Marie-France Portnoï

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 933 KB

english, 2011

9

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

Francis Renault, Jean-Jacques Baudon, Eva Galliani, Roberto Flores-Guevara, Sandrine Marlin, Erea Noel Garabedian, Marie-Paule Vazquez

Journal:

Year:

2011

Language:

english

File:

PDF, 233 KB

english, 2011

10

Unilateral Sensorineural Hearing Loss: Medical Context and Etiology

Paul, Antoine, Marlin, Sandrine, Parodi, Marine, Rouillon, Isabelle, Guerlain, Joanne, Pingault, Véronique, Couloigner, Vincent, Garabedian, Erea Noel, Denoyelle, Françoise, Loundon, Natalie

Journal:

Audiology & Neuro-Otology

Year:

2017

Language:

english

File:

PDF, 371 KB

english, 2017

11

Prevalence and Evolutionary Origins of the del(GJB6-D13S1830) Mutation in the DFNB1 Locus in Hearing-Impaired Subjects: a Multicenter Study

Ignacio del Castillo, Miguel A. Moreno-Pelayo, Francisco J. del Castillo, Zippora Brownstein, Sandrine Marlin, Quint Adina, David J. Cockburn, Arti Pandya, Kirby R. Siemering, G. Parker Chamberlin, Es

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 218 KB

english, 2003

12

Congenital Cytomegalovirus Is the Second Most Frequent Cause of Bilateral Hearing Loss in Young French Children

Avettand-Fenoël, Véronique, Marlin, Sandrine, Vauloup-Fellous, Christelle, Loundon, Natalie, François, Martine, Couloigner, Vincent, Rouillon, Isabelle, Drouin-Garraud, Valérie, Laccourreye, Laurence,

Journal:

Obstetric and Gynecologic Survey

Year:

2013

Language:

english

File:

PDF, 298 KB

english, 2013

13

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

Kadlub, Natacha, Sessiecq, Quentin, Dainese, Linda, Joly, Aline, Lehalle, Daphne, Marlin, Sandrine, Badoual, Cecile, Galmiche, Louise, Majoufre-Lefebvre, Claire, Berdal, Ariane, Deckert, Marcel, Vazqu

Journal:

Human Pathology

Year:

2016

Language:

english

File:

PDF, 1.14 MB

english, 2016

14

Two cases of Townes-Brocks syndrome with previously undescribed anomalies

Marlin, Sandrine, Edmond Toublanc, Jean, Petit, Christine

Journal:

Clinical Dysmorphology

Year:

1998

File:

PDF, 235 KB

1998

15

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

Morice-Picard, Fanny, Marlin, Sandrine, Rooryck, Caroline, Fayon, Mickael, Thambo, Jeao-Benoît, Demarquez, Jean-Louis, Fauroux, Brigitte, Denoyelle, Francoise, Lacombe, Didier

Journal:

Clinical Dysmorphology

Year:

2009

Language:

english

File:

PDF, 120 KB

english, 2009

16

Role of interleukin-1β in NLRP12-associated autoinflammatory disorders and resistance to anti–interleukin-1 therapy

Isabelle Jéru, Véronique Hentgen, Sylvain Normand, Philippe Duquesnoy, Emmanuelle Cochet, Adriana Delwail, Gilles Grateau, Sandrine Marlin, Serge Amselem, Jean-Claude Lecron

Journal:

Arthritis & Rheumatism

Year:

2011

Language:

english

File:

PDF, 191 KB

english, 2011

17

Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip

Lévêque, Marianne, Marlin, Sandrine, Jonard, Laurence, Procaccio, Vincent, Reynier, Pascal, Amati-Bonneau, Patrizia, Baulande, Sylvain, Pierron, Denis, Lacombe, Didier, Duriez, Françoise

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 153 KB

english, 2007

18

Focus on putative serine carboxypeptidase-like acyltransferases in grapevine

Bontpart, Thibaut, Ferrero, Manuela, Khater, Fida, Marlin, Thérèse, Vialet, Sandrine, Vallverdù-Queralt, Anna, Pinasseau, Lucie, Ageorges, Agnès, Cheynier, Véronique, Terrier, Nancy

Journal:

Plant Physiology and Biochemistry

Year:

2018

Language:

english

File:

PDF, 2.71 MB

english, 2018

19

Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4

Nadege Bondurand, Florence Dastot-Le Moal, Laure Stanchina, Nathalie Collot, Viviane Baral, Sandrine Marlin, Tania Attie-Bitach, Irina Giurgea, Laurent Skopinski, William Reardon, Annick Toutain, Pier

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 5.21 MB

english, 2007

20

Perrault syndrome: Report of four new cases, review and exclusion of candidate genes

Sandrine Marlin, Didier Lacombe, Laurence Jonard, Nicolas Leboulanger, Dominique Bonneau, Cyril Goizet, Thierry Billette de Villemeur, Sylvie Cabrol, Muriel Houang, Lucien Moatti, Delphine Feldmann, F

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 140 KB

english, 2008

21

Usher syndrome type 1: Early detection of electroretinographic changes

Roberto Flores-Guevara, Francis Renault, Natalie Loundon, Sandrine Marlin, Béatrice Pelosse, Martha Momtchilova, Monique Auzoux-Chevé, Anne Isabelle Vermersch, Pascal Richard

Journal:

European Journal of Paediatric Neurology

Year:

2009

Language:

english

File:

PDF, 173 KB

english, 2009

22

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

Laurence Jonard, Vincent Couloigner, Sébastien Pierrot, Malek Louha, Souad Gherbi, Françoise Denoyelle, Sandrine Marlin

Journal:

European Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 439 KB

english, 2012

23

The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness

Delphine Feldmann, Françoise Denoyelle, Hélène Blons, Stanislas Lyonnet, Natalie Loundon, Isabelle Rouillon, Smail Hadj-Rabia, Christine Petit, Rémy Couderc, Eréa-Noel Garabédian, Sandrine Marlin

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 169 KB

english, 2005

24

Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations

Pauline Krug, Vincent Morinière, Sandrine Marlin, Valérie Koubi, Heinz D. Gabriel, Estelle Colin, Dominique Bonneau, Rémi Salomon, Corinne Antignac, Laurence Heidet

Journal:

Year:

2011

Language:

english

File:

PDF, 184 KB

english, 2011

25

Another patient with cryptic unbalanced translocation between chromosomes 4q and 18q: Evidence by microarray CGH

Anne Moncla, Chantal Missirian, Nicole Philip, Sandrine Marlin

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 170 KB

english, 2004

26

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

Laurence Jonard, Delphine Feldmann, Christophe Parsy, Sylvie Freitag, Martine Sinico, Céleste Koval, Mhamed Grati, Remy Couderc, Françoise Denoyelle, Christine Bodemer, Sandrine Marlin, Smail Hadj-Rab

Journal:

European Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 493 KB

english, 2008

27

GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

Rikkert L. Snoeckx, Patrick L.M. Huygen, Delphine Feldmann, Sandrine Marlin, Françoise Denoyelle, Jaroslaw Waligora, Malgorzata Mueller-Malesinska, Agneszka Pollak, Rafal Ploski, Alessandra Murgia, Ev

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 1.25 MB

english, 2005

28

Velopharyngoplasty for Noncleft Velopharyngeal Insufficiency

Rouillon, Isabelle, Leboulanger, Nicolas, Roger, Gilles, Maulet, Michel, Marlin, Sandrine, Loundon, Natalie, Portnoï, Marie France, Denoyelle, Francoise, Garabédian, Erea Noel

Journal:

Archives of Otolaryngology - Head and Neck Surgery

Year:

2009

Language:

english

File:

PDF, 82 KB

english, 2009

29

Two shikimate dehydrogenases, VvSDH3 and VvSDH4 , are involved in gallic acid biosynthesis in grapevine

Bontpart, Thibaut, Marlin, Thérèse, Vialet, Sandrine, Guiraud, Jean-Luc, Pinasseau, Lucie, Meudec, Emmanuelle, Sommerer, Nicolas, Cheynier, Véronique, Terrier, Nancy

Journal:

Journal of Experimental Botany

Year:

2016

Language:

english

File:

PDF, 3.08 MB

english, 2016

30

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

Charlotte Hautefort, Natalie Loundon, Marta Montchilova, Sandrine Marlin, Erea Noel Garabedian, Tim Ulinski

Journal:

International Journal of Pediatric Otorhinolaryngology

Year:

2009

Language:

english

File:

PDF, 241 KB

english, 2009

31

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

Le Goff, Carine, Mahaut, Clémentine, Abhyankar, Avinash, Le Goff, Wilfried, Serre, Valérie, Afenjar, Alexandra, Destrée, Anne, di Rocco, Maja, Héron, Delphine, Jacquemont, Sébastien, Marlin, Sandrine,

Journal:

Nature Genetics

Year:

2011

Language:

english

File:

PDF, 696 KB

english, 2011

32

Cochlear Implantation and Congenital Deafness

El Bakkouri, Wissame, Loundon, Natalie, Thierry, Briac, Nevoux, Jerome, Marlin, Sandrine, Rouillon, Isabelle, Garabédian, Erea Noel

Journal:

Otology & Neurotology

Year:

2012

Language:

english

File:

PDF, 1.16 MB

english, 2012

33

Genotype/phenotype correlations of childhood‐onset congenital sideroblastic anaemia in a European cohort

Fouquet, Cyrielle, Le Rouzic, Marie‐Amelyne, Leblanc, Thierry, Fouyssac, Fanny, Leverger, Guy, Hessissen, Laila, Marlin, Sandrine, Bourrat, Emmanuelle, Fahd, Mony, Raffoux, Emmanuel, Vannier, Jean‐Pie

Journal:

British Journal of Haematology

Year:

2019

Language:

english

File:

PDF, 673 KB

english, 2019

34

Generation of an iPSC line (IMAGINi022-A) from a patient carrying a SOX10 missense mutation and presenting with deafness, depigmentation and progressive neurological impairment

Banal, Celine, Quelennec, Eddy, Bertani-Torres, William, Gacem, Nadjet, Amiel, Jeanne, Marlin, Sandrine, Petit, Florence, Pingault, Veronique, Lefort, Nathalie, Bondurand, Nadege

Journal:

Stem Cell Research

Year:

2020

File:

PDF, 1.33 MB

2020

35

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

Sandrine Marlin, Delphine Feldmann, Yann Nguyen, Isabelle Rouillon, Natalie Loundon, Laurence Jonard, Crystel Bonnet, Remy Couderc, Eréa Noel Garabedian, Christine Petit, Françoise Denoyelle

Journal:

Biochemical and Biophysical Research Communications

Year:

2010

Language:

english

File:

PDF, 1000 KB

english, 2010

36

The Calcineurin Inhibitor Tacrolimus as a New Therapy in Severe Cherubism

Kadlub, Natacha, Vazquez, Marie-Paule, Galmiche, Louise, L'Herminé, Aurore Coulomb, Dainese, Linda, Ulinski, Tim, Fauroux, Brigitte, Pavlov, Ioana, Badoual, Cécile, Marlin, Sandrine, Deckert, Marcel,

Journal:

Journal of Bone and Mineral Research

Year:

2015

File:

PDF, 9.24 MB

2015

37

Role of IL-1b in NLRP12-associated autoinflammatory disorders and resistance to anti-IL-1 therapy

Isabelle Jeru, Véronique Hentgen, Sylvain Normand, Philippe Duquesnoy, Emmanuelle Cochet, Adriana Delwail, Gilles Grateau, Sandrine Marlin, Serge Amselem, Jean-Claude Lecron

Journal:

Pediatric Rheumatology

Year:

2011

Language:

english

File:

PDF, 84 KB

english, 2011

38

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

Natalie Loundon, Nicolas Leboulanger, Janine Maillet, Agnès Riggouzzo, Patrick Richard, Sandrine Marlin, Erea Noel Garabedian

Journal:

International Journal of Pediatric Otorhinolaryngology

Year:

2008

Language:

english

File:

PDF, 136 KB

english, 2008

39

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

Rubinato, Elisa, Rondeau, Sophie, Giuliano, Fabienne, Kossorotoff, Manoelle, Parodi, Marine, Gherbi, Souad, Steffan, Julie, Jonard, Laurence, Marlin, Sandrine

Journal:

European Journal of Medical Genetics

Year:

2019

Language:

english

File:

PDF, 1.88 MB

english, 2019

40

Les surdités d’origine génétique

Tanaka-Ouyang, Lei, Marlin, Sandrine, Nevoux, Jérôme

Journal:

La Presse Médicale

Year:

2017

Language:

french

File:

PDF, 198 KB

french, 2017

41

Functional consequences of a germline mutation in the leucine-rich repeat domain of NLRP3 identified in an atypical autoinflammatory disorder

Isabelle Jéru, Sandrine Marlin, Gaëlle Le Borgne, Emmanuelle Cochet, Sylvain Normand, Philippe Duquesnoy, Florence Dastot-Le Moal, Laurence Cuisset, Véronique Hentgen, Teresa Fernandes Alnemri, Jean-C

Journal:

Arthritis & Rheumatism

Year:

2010

Language:

english

File:

PDF, 366 KB

english, 2010

42

Discovery of a Large Deletion of KAL1 in 2 Deaf Brothers

Marlin, Sandrine, Chantot-Bastaraud, Sandra, David, Albert, Loundon, Natalie, Jonard, Laurence, Portnoï, Marie-France, Bonnet, Crystel, Louha, Malek, Gherbi, Souad, Garabedian, Eréa Noël, Couderc, Rem

Journal:

Otology & Neurotology

Year:

2013

Language:

english

File:

PDF, 1.52 MB

english, 2013

43

Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss

Nicolás Gutiérrez Cortés, Claire Pertuiset, Elodie Dumon, Marine Börlin, Etienne Hebert-Chatelain, Denis Pierron, Delphine Feldmann, Laurence Jonard, Sandrine Marlin, Thierry Letellier, Christophe Roc

Journal:

Year:

2012

Language:

english

File:

PDF, 413 KB

english, 2012

44

Review and update of mutations causing Waardenburg syndrome

Véronique Pingault, Dorothée Ente, Florence Dastot-Le Moal, Michel Goossens, Sandrine Marlin, Nadège Bondurand

Journal:

Year:

2010

Language:

english

File:

PDF, 485 KB

english, 2010

45

A particular case of deafness-oligodontia syndrome

Sandrine Marlin, Françoise Denoyelle, Denise Busquet, Noël Garabedian, Christine Petit

Journal:

International Journal of Pediatric Otorhinolaryngology

Year:

1998

Language:

english

File:

PDF, 415 KB

english, 1998

46

GJB2 and GJB6 Mutations

Marlin, Sandrine, Feldmann, Delphine, Blons, Hélène, Loundon, Natalie, Rouillon, Isabelle, Albert, Sébastien, Chauvin, Pierre, Garabédian, Eréa-Noël, Couderc, Rémy, Odent, Sylvie, Joannard, Alain, Sch

Journal:

Archives of Otolaryngology - Head and Neck Surgery

Year:

2005

Language:

english

File:

PDF, 126 KB

english, 2005

47

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

Wells, Constance, Loundon, Natalie, Garabedian, Noël, Wiener-Vacher, Sylvette, Cordier-Bouvier, Marie-Dominique, Goudeffroye, Géraldine, Attié-Bitach, Tania, Marlin, Sandrine

Journal:

European Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 513 KB

english, 2016

48

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

Portno??, Marie-France, Gruchy, Nicolas, Marlin, Sandrine, Finkel, Lina, Denoyelle, Fran??oise, Dubourg, Christ??le, Odent, Sylvie, Siffroi, Jean-Pierre, Le Bouc, Yves, Houang, Muriel

Journal:

Clinical Dysmorphology

Year:

2007

Language:

english

File:

PDF, 222 KB

english, 2007

49

Mutations in MYT1 , encoding the myelin transcription factor 1, are a rare cause of OAVS

Lopez, Estelle, Berenguer, Marie, Tingaud-Sequeira, Angèle, Marlin, Sandrine, Toutain, Annick, Denoyelle, Françoise, Picard, Arnaud, Charron, Sabine, Mathieu, Guilaine, de Belvalet, Harmony, Arveiler,

Journal:

Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 889 KB

english, 2016

50

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

Vincent, Marie, Geneviève, David, Ostertag, Agnès, Marlin, Sandrine, Lacombe, Didier, Martin-Coignard, Dominique, Coubes, Christine, David, Albert, Lyonnet, Stanislas, Vilain, Catheline, Dieux-Coeslie

Journal:

Genetics in Medicine

Year:

2015

Language:

english

File:

PDF, 2.04 MB

english, 2015

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