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The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells.
Published in:
EMBO Molecular Medicine, 2014, v. 6, n. 7, p. 984, doi. 10.15252/emmm.201403976
By:
- Pepermans, Elise;
- Michel, Vincent;
- Goodyear, Richard;
- Bonnet, Crystel;
- Abdi, Samia;
- Dupont, Typhaine;
- Gherbi, Souad;
- Holder, Muriel;
- Makrelouf, Mohamed;
- Hardelin, Jean‐Pierre;
- Marlin, Sandrine;
- Zenati, Akila;
- Richardson, Guy;
- Avan, Paul;
- Bahloul, Amel;
- Petit, Christine
Publication type:
Article
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.
Published in:
Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 21, doi. 10.1186/1750-1172-6-21
By:
- Bonnet, Crystel;
- Grati, M'hamed;
- Marlin, Sandrine;
- Levilliers, Jacqueline;
- Hardelin, Jean-Pierre;
- Parodi, Marine;
- Niasme-Grare, Magali;
- Zelenika, Diana;
- Délépine, Marc;
- Feldmann, Delphine;
- Jonard, Laurence;
- El-Amraoui, Aziz;
- Weil, Dominique;
- Delobel, Bruno;
- Vincent, Christophe;
- Dollfus, Hélène;
- Eliot, Marie-Madeleine;
- David, Albert;
- Calais, Catherine;
- Vigneron, Jacqueline
Publication type:
Article
Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1375
By:
- Tingaud‐Sequeira, Angèle;
- Trimouille, Aurélien;
- Marlin, Sandrine;
- Lopez, Estelle;
- Berenguer, Marie;
- Gherbi, Souad;
- Arveiler, Benoit;
- Lacombe, Didier;
- Rooryck, Caroline
Publication type:
Article
A 22q13.1 duplication in mosaicism including SOX10.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2813, doi. 10.1002/ajmg.a.63362
By:
- Bertani‐Torres, William;
- Serey‐Gaut, Margaux;
- de Oliveira, Judite;
- Bole, Christine;
- Parisot, Mélanie;
- Nistschké, Patrick;
- Maurin, Marie‐Laure;
- Lapierre, Jean‐Michel;
- Loundon, Natalie;
- Belhous, Kahina;
- Bondurand, Nadège;
- Marlin, Sandrine;
- Pingault, Véronique
Publication type:
Article
An automatic facial landmarking for children with rare diseases.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1210, doi. 10.1002/ajmg.a.63126
By:
- Hennocq, Quentin;
- Bongibault, Thomas;
- Bizière, Matthieu;
- Delassus, Ombline;
- Douillet, Maxime;
- Cormier‐Daire, Valérie;
- Amiel, Jeanne;
- Lyonnet, Stanislas;
- Marlin, Sandrine;
- Rio, Marlène;
- Picard, Arnaud;
- Khonsari, Roman Hossein;
- Garcelon, Nicolas
Publication type:
Article
Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1600, doi. 10.1002/ajmg.a.62642
By:
- Tharreau, Mylène;
- Garde, Aurore;
- Marlin, Sandrine;
- Morel, Godelieve;
- Ernest, Sylvain;
- Nambot, Sophie;
- Duffourd, Yannis;
- Ternoy, Ninon;
- Duvillard, Christian;
- Banka, Siddharth;
- Philippe, Christophe;
- Thauvin‐Robinet, Christel;
- Mau‐Them, Frederic Tran;
- Faivre, Laurence
Publication type:
Article
The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2740, doi. 10.1002/ajmg.a.40662
By:
- Lehalle, Daphné;
- Altunoglu, Umut;
- Bruel, Ange‐Line;
- Assoum, Mirna;
- Duffourd, Yannis;
- Masurel, Alice;
- Baujat, Geneviève;
- Bessieres, Bettina;
- Captier, Guillaume;
- Edery, Patrick;
- Elçioğlu, Nursel H.;
- Geneviève, David;
- Goldenberg, Alice;
- Héron, Delphine;
- Grotto, Sarah;
- Marlin, Sandrine;
- Putoux, Audrey;
- Rossi, Massimiliano;
- Saugier‐Veber, Pascale;
- Triau, Stéphane
Publication type:
Article
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2847, doi. 10.1002/ajmg.a.37878
By:
- Goldenberg, Alice;
- Riccardi, Florence;
- Tessier, Aude;
- Pfundt, Rolph;
- Busa, Tiffany;
- Cacciagli, Pierre;
- Capri, Yline;
- Coutton, Charles;
- Delahaye‐Duriez, Andree;
- Frebourg, Thierry;
- Gatinois, Vincent;
- Guerrot, Anne‐Marie;
- Genevieve, David;
- Lecoquierre, Francois;
- Jacquette, Aurélia;
- Khau Van Kien, Philippe;
- Leheup, Bruno;
- Marlin, Sandrine;
- Verloes, Alain;
- Michaud, Vincent
Publication type:
Article
Genotype/phenotype correlations of childhood‐onset congenital sideroblastic anaemia in a European cohort.
Published in:
British Journal of Haematology, 2019, v. 187, n. 4, p. 530, doi. 10.1111/bjh.16100
By:
- Fouquet, Cyrielle;
- Le Rouzic, Marie‐Amelyne;
- Leblanc, Thierry;
- Fouyssac, Fanny;
- Leverger, Guy;
- Hessissen, Laila;
- Marlin, Sandrine;
- Bourrat, Emmanuelle;
- Fahd, Mony;
- Raffoux, Emmanuel;
- Vannier, Jean‐Pierre;
- Jäkel, Nadja;
- Knoefler, Ralf;
- Triolo, Valerie;
- Pasquet, Marlene;
- Bayart, Sophie;
- Thuret, Isabelle;
- Lutz, Patrick;
- Vermylen, Christiane;
- Touati, Mohamed
Publication type:
Article
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
Published in:
Nature Genetics, 2012, v. 44, n. 1, p. 85, doi. 10.1038/ng.1016
By:
- 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;
- Simon, Marleen;
- Tolmie, John;
- Verloes, Alain;
- Casanova, Jean-Laurent;
- Munnich, Arnold;
- Cormier-Daire, Valérie
Publication type:
Article
Prenatal evaluation of the middle ear and diagnosis of middle ear hypoplasia using MRI.
Published in:
Pediatric Radiology, 2011, v. 41, n. 5, p. 652, doi. 10.1007/s00247-010-1913-2
By:
- Katorza, Eldad;
- Nahama-Allouche, Catherine;
- Castaigne, Vanina;
- Gonzales, Marie;
- Galliani, Eva;
- Marlin, Sandrine;
- Jouannic, Jean-Marie;
- Rosenblatt, Jonathan;
- Pointe, Hubert Ducou le;
- Garel, Catherine
Publication type:
Article
Screening of MITF and SOX10 Regulatory Regions in Waardenburg Syndrome Type 2.
Published in:
PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0041927
By:
- Baral, Viviane;
- Chaoui, Asma;
- Watanabe, Yuli;
- Goossens, Michel;
- Attie-Bitach, Tania;
- Marlin, Sandrine;
- Pingault, Veronique;
- Bondurand, Nadege
Publication type:
Article
Facial, lingual, and pharyngeal electromyography in infants with Pierre Robin sequence.
Published in:
Muscle & Nerve, 2011, v. 43, n. 6, p. 866, doi. 10.1002/mus.21991
By:
- Renault, Francis;
- Baudon, Jean-Jacques;
- Galliani, Eva;
- Flores-Guevara, Roberto;
- Marlin, Sandrine;
- Garabedian, Erea Noel;
- Vazquez, Marie-Paule
Publication type:
Article
Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1272, doi. 10.1038/ejhg.2013.288
By:
- Michot, Caroline;
- Le Goff, Carine;
- Mahaut, Clémentine;
- Afenjar, Alexandra;
- Brooks, Alice S;
- Campeau, Philippe M;
- Destree, Anne;
- Di Rocco, Maja;
- Donnai, Dian;
- Hennekam, Raoul;
- Heron, Delphine;
- Jacquemont, Sébastien;
- Kannu, Peter;
- Lin, Angela E;
- Manouvrier-Hanu, Sylvie;
- Mansour, Sahar;
- Marlin, Sandrine;
- McGowan, Ruth;
- Murphy, Helen;
- Raas-Rothschild, Annick
Publication type:
Article
Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1340, doi. 10.1038/ejhg.2014.182
By:
- Michot, Caroline;
- Le Goff, Carine;
- Mahaut, Clémentine;
- Afenjar, Alexandra;
- Brooks, Alice S;
- Campeau, Philippe M;
- Destree, Anne;
- Di Rocco, Maja;
- Donnai, Dian;
- Hennekam, Raoul;
- Heron, Delphine;
- Jacquemont, Sébastien;
- Kannu, Peter;
- Lin, Angela E;
- Manouvrier-Hanu, Sylvie;
- Mansour, Sahar;
- Marlin, Sandrine;
- McGowan, Ruth;
- Murphy, Helen;
- Raas-Rothschild, Annick
Publication type:
Article
Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 9, p. 959, doi. 10.1038/ejhg.2011.71
By:
- Wentzel, Christian;
- Rajcan-Separovic, Evica;
- Ruivenkamp, Claudia A. L.;
- Chantot-Bastaraud, Sandra;
- Metay, Corinne;
- Andrieux, Joris;
- Annerén, Göran;
- Gijsbers, Antoinet C. J.;
- Druart, Luc;
- Hyon, Capucine;
- Portnoi, Marie-France;
- Stattin, Eva-Lena;
- Vincent-Delorme, Catherine;
- Kant, Sarina G.;
- Steinraths, Michelle;
- Marlin, Sandrine;
- Giurgea, Irina;
- Thuresson, Ann-Charlotte
Publication type:
Article
Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip.
Published in:
European Journal of Human Genetics, 2007, v. 15, n. 11, p. 1145, doi. 10.1038/sj.ejhg.5201891
By:
- Lévêque, Marianne;
- Marlin, Sandrine;
- Jonard, Laurence;
- Procaccio, Vincent;
- Reynier, Pascal;
- Amati-Bonneau, Patrizia;
- Baulande, Sylvain;
- Pierron, Denis;
- Lacombe, Didier;
- Duriez, Françoise;
- Francannet, Christine;
- Mom, Thierry;
- Journel, Hubert;
- Catros, Hélène;
- Drouin-Garraud, Valérie;
- Obstoy, Marie-Françoise;
- Dollfus, Hélène;
- Eliot, Marie-Madeleine;
- Faivre, Laurence;
- Duvillard, Christian
Publication type:
Article
Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene.
Published in:
European Journal of Human Genetics, 2004, v. 12, n. 4, p. 279, doi. 10.1038/sj.ejhg.5201147
By:
- Feldmann, Delphine;
- Denoyelle, Françoise;
- Loundon, Natalie;
- Weil, Dominique;
- Garabedian, Erea-Noel;
- Couderc, Remy;
- Joannard, Alain;
- Schmerber, Sébastien;
- Delobel, Bruno;
- Leman, Jacques;
- Journel, Hubert;
- Catros, Hélène;
- Ferrec, Claude;
- Drouin-Garraud, Valérie;
- Obstoy, Marie-Françoise;
- Moati, Lucien;
- Petit, Christine;
- Marlin, Sandrine
Publication type:
Article
Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor.
Published in:
European Journal of Human Genetics, 2002, v. 10, n. 12, p. 851, doi. 10.1038/sj.ejhg.5200894
By:
- Chapiro, Elise;
- Feldmann, Delphine;
- Denoyelle, Françoise;
- Sternberg, Damien;
- Jardel, Claude;
- Eliot, Marie-Madeleine;
- Bouccara, Didier;
- Weil, Dominique;
- Garabédian, Eréa-Noel;
- Couderc, Rémy;
- Petit, Christine;
- Marlin, Sandrine
Publication type:
Article
HDR syndrome: Large cohort and systematic review.
Published in:
Clinical Genetics, 2024, v. 106, n. 5, p. 564, doi. 10.1111/cge.14583
By:
- Rive Le Gouard, Nicolas;
- Lafond‐Rive, Valentin;
- Jonard, Laurence;
- Loundon, Natalie;
- Achard, Sophie;
- Heidet, Laurence;
- Mosnier, Isabelle;
- Lyonnet, Stanislas;
- Brioude, Frederic;
- Serey Gaut, Margaux;
- Marlin, Sandrine
Publication type:
Article
RIPOR2: A new gene of non‐syndromic cochleovestibular dysfunction, discrepancy between human pathology and animal models.
Published in:
Clinical Genetics, 2023, v. 104, n. 6, p. 669, doi. 10.1111/cge.14436
By:
- Morel, Godelieve;
- Ernest, Sylvain;
- Serey‐Gaut, Margaux;
- Jonard, Laurence;
- Balogoun, Abeke Ralyath;
- Parodi, Marine;
- Loundon, Natalie;
- Achard, Sophie;
- Marlin, Sandrine
Publication type:
Article
Investigating genotype‐to‐phenotype correlation in CHARGE syndrome by deep phenotyping and multiparametric clustering.
Published in:
Clinical Genetics, 2023, v. 104, n. 4, p. 466, doi. 10.1111/cge.14363
By:
- Dana, Jérémy;
- Dorval, Guillaume;
- Martin, Christine Saint;
- Belhous, Kahina;
- Levy, Raphael;
- Marlin, Sandrine;
- De Bie, Isabelle;
- Mautret‐Godefroy, Manon;
- Rausell, Antonio;
- Rio, Marlène;
- Boucher‐Brischoux, Elise;
- Attié‐Bitach, Tania;
- Boddaert, Nathalie;
- Pingault, Véronique
Publication type:
Article
High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5.
Published in:
Clinical Genetics, 2019, v. 95, n. 1, p. 177, doi. 10.1111/cge.13460
By:
- Lerat, Justine;
- Marlin, Sandrine;
- Mezouaghi, Kheira;
- Guichet, Agnes;
- Genin, Emmanuelle;
- Litzler, Julie;
- Gesny, Roselyne;
- Bonnefont, Jean‐Paul;
- Jonard, Laurence;
- Bonnet, Crystel;
- Cartault, François;
- Gherbi, Souad;
- Aissa, Ines Ben;
- Digeon, Fabienne Saint James;
- Loundon, Natalie;
- Rouillon, Isabelle;
- Garabedian, Eréa‐Nöel;
- Denoyelle, Françoise;
- Jacquemont, Marie‐Line;
- Darcel, Françoise
Publication type:
Article
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss.
Published in:
Human Molecular Genetics, 2021, v. 30, n. 19, p. 1785, doi. 10.1093/hmg/ddab145
By:
- Bassani, Sissy;
- Beelen, Edward van;
- Rossel, Mireille;
- Voisin, Norine;
- Morgan, Anna;
- Arribat, Yoan;
- Chatron, Nicolas;
- Chrast, Jacqueline;
- Cocca, Massimiliano;
- Delprat, Benjamin;
- Faletra, Flavio;
- Giannuzzi, Giuliana;
- Guex, Nicolas;
- Machavoine, Roxane;
- Pradervand, Sylvain;
- Smits, Jeroen J;
- Kamp, Jiddeke M van de;
- Ziegler, Alban;
- Amati, Francesca;
- Marlin, Sandrine
Publication type:
Article
Pediatric Cochlear Implantation in Residual Hearing Candidates.
Published in:
Annals of Otology, Rhinology & Laryngology, 2015, v. 124, n. 6, p. 443, doi. 10.1177/0003489414566121
By:
- Gratacap, Maxime;
- Thierry, Briac;
- Rouillon, Isabelle;
- Marlin, Sandrine;
- Garabedian, Noel;
- Loundon, Natalie
Publication type:
Article
Role of IL-1b in NLRP12-associated autoinflammatory disorders and resistance to anti-IL-1 therapy.
Published in:
2011
By:
- Jeru, Isabelle;
- Hentgen, Véronique;
- Normand, Sylvain;
- Duquesnoy, Philippe;
- Cochet, Emmanuelle;
- Delwail, Adriana;
- Grateau, Gilles;
- Marlin, Sandrine;
- Amselem, Serge;
- Lecron, Jean-Claude
Publication type:
Abstract
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.
Published in:
Human Mutation, 2022, v. 43, n. 5, p. 582, doi. 10.1002/humu.24349
By:
- Vegas, Nancy;
- Demir, Zeynep;
- Gordon, Christopher T.;
- Breton, Sylvain;
- Romanelli Tavares, Vanessa L.;
- Moisset, Hugo;
- Zechi‐Ceide, Roseli;
- Kokitsu‐Nakata, Nancy M.;
- Kido, Yasuhiro;
- Marlin, Sandrine;
- Gherbi Halem, Souad;
- Meerschaut, Ilse;
- Callewaert, Bert;
- Chung, Brian;
- Revencu, Nicole;
- Lehalle, Daphné;
- Petit, Florence;
- Propst, Evan J.;
- Papsin, Blake C.;
- Phillips, John H.
Publication type:
Article
EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state.
Published in:
Human Mutation, 2017, v. 38, n. 5, p. 581, doi. 10.1002/humu.23206
By:
- Issa, Sarah;
- Bondurand, Nadege;
- Faubert, Emmanuelle;
- Poisson, Sylvain;
- Lecerf, Laure;
- Nitschke, Patrick;
- Deggouj, Naima;
- Loundon, Natalie;
- Jonard, Laurence;
- David, Albert;
- Sznajer, Yves;
- Blanchet, Patricia;
- Marlin, Sandrine;
- Pingault, Veronique
Publication type:
Article
An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.
Published in:
Human Mutation, 2016, v. 37, n. 12, p. 1354, doi. 10.1002/humu.23120
By:
- Lerat, Justine;
- Jonard, Laurence;
- Loundon, Natalie;
- Christin‐Maitre, Sophie;
- Lacombe, Didier;
- Goizet, Cyril;
- Rouzier, Cécile;
- Maldergem, Lionel;
- Gherbi, Souad;
- Garabedian, Eréa‐Nöel;
- Bonnefont, Jean‐ Paul;
- Touraine, Philippe;
- Mosnier, Isabelle;
- Munnich, Arnold;
- Denoyelle, Françoise;
- Marlin, Sandrine
Publication type:
Article
Mutations in SNRPB, Encoding Components of the Core Splicing Machinery, Cause Cerebro-Costo-Mandibular Syndrome.
Published in:
Human Mutation, 2015, v. 36, n. 2, p. 187, doi. 10.1002/humu.22729
By:
- Bacrot, Séverine;
- Doyard, Mathilde;
- Huber, Céline;
- Alibeu, Olivier;
- Feldhahn, Niklas;
- Lehalle, Daphné;
- Lacombe, Didier;
- Marlin, Sandrine;
- Nitschke, Patrick;
- Petit, Florence;
- Vazquez, Marie‐Paule;
- Munnich, Arnold;
- Cormier‐Daire, Valérie
Publication type:
Article
Delineation of EFTUD2 Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients.
Published in:
Human Mutation, 2014, v. 35, n. 4, p. 478, doi. 10.1002/humu.22517
By:
- Lehalle, Daphné;
- Gordon, Christopher T.;
- Oufadem, Myriam;
- Goudefroye, Géraldine;
- Boutaud, Lucile;
- Alessandri, Jean‐Luc;
- Baena, Neus;
- Baujat, Geneviève;
- Baumann, Clarisse;
- Boute‐Benejean, Odile;
- Caumes, Roseline;
- Decaestecker, Charles;
- Gaillard, Dominique;
- Goldenberg, Alice;
- Gonzales, Marie;
- Holder‐Espinasse, Muriel;
- Jacquemont, Marie‐Line;
- Lacombe, Didier;
- Manouvrier‐Hanu, Sylvie;
- Marlin, Sandrine
Publication type:
Article
Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss.
Published in:
Human Mutation, 2012, v. 33, n. 4, p. 681, doi. 10.1002/humu.22023
By:
- Gutiérrez Cortés, Nicolás;
- Pertuiset, Claire;
- Dumon, Elodie;
- Börlin, Marine;
- Hebert-Chatelain, Etienne;
- Pierron, Denis;
- Feldmann, Delphine;
- Jonard, Laurence;
- Marlin, Sandrine;
- Letellier, Thierry;
- Rocher, Christophe
Publication type:
Article
Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity.
Published in:
Human Mutation, 2012, v. 33, n. 4, p. 665, doi. 10.1002/humu.22012
By:
- Daniel, Philip B.;
- Morgan, Tim;
- Alanay, Yasemin;
- Bijlsma, Emilia;
- Cho, Tae-Joon;
- Cole, Trevor;
- Collins, Felicity;
- David, Albert;
- Devriendt, Koen;
- Faivre, Laurence;
- Ikegawa, Shiro;
- Jacquemont, Sebastien;
- Jesic, Milos;
- Krakow, Deborah;
- Liebrecht, Daniela;
- Maitz, Silvia;
- Marlin, Sandrine;
- Morin, Gilles;
- Nishikubo, Toshiya;
- Nishimura, Gen
Publication type:
Article
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.
Published in:
Human Mutation, 2011, v. 32, n. 2, p. 183, doi. 10.1002/humu.21402
By:
- Krug, Pauline;
- Morinière, Vincent;
- Marlin, Sandrine;
- Koubi, Valérie;
- Gabriel, Heinz D.;
- Colin, Estelle;
- Bonneau, Dominique;
- Salomon, Rémi;
- Antignac, Corinne;
- Heidet, Laurence
Publication type:
Article
Review and update of mutations causing Waardenburg syndrome.
Published in:
2010
By:
- Pingault, Véronique;
- Ente, Dorothée;
- Dastot-Le Moal, Florence;
- Goossens, Michel;
- Marlin, Sandrine;
- Bondurand, Nadège
Publication type:
Other
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region.
Published in:
Human Mutation, 2007, v. 28, n. 2, p. 204, doi. 10.1002/humu.9476
By:
- Botzenhart, Elke M.;
- Bartalini, Gabriella;
- Blair, Edward;
- Brady, Angela F.;
- Elmslie, Frances;
- Chong, Karen L.;
- Christy, Katie;
- Torres-Martinez, Wilfredo;
- Danesino, Cesare;
- Deardorff, Matthew A.;
- Fryns, Jean-Pierre;
- Marlin, Sandrine;
- Garcia-Minaur, Sixto;
- Hellenbroich, Yorck;
- Hay, Beverly N.;
- Penttinen, Maila;
- Shashi, Vandana;
- Terhal, Paulien;
- Van Maldergem, Lionel;
- Whiteford, Margo L.
Publication type:
Article
The Calcineurin Inhibitor Tacrolimus as a New Therapy in Severe Cherubism.
Published in:
Journal of Bone & Mineral Research, 2015, v. 30, n. 5, p. 878, doi. 10.1002/jbmr.2431
By:
- 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;
- Leboulanger, Nicolas;
- Berdal, Ariane;
- Descroix, Vianney;
- Picard, Arnaud;
- Coudert, Amélie E
Publication type:
Article
Townes-Brocks syndrome: Detection of a SALL1 mutation hot spot and evidence for a position effect in one patient.
Published in:
Human Mutation, 1999, v. 14, n. 5, p. 377, doi. 10.1002/(SICI)1098-1004(199911)14:5<377::AID-HUMU3>3.0.CO;2-A
By:
- Marlin, Sandrine;
- Blanchard, Stéphane;
- Slim, Rima;
- Lacombe, Didier;
- Denoyelle, Françoise;
- Alessandri, Jean-Louis;
- Calzolari, Elisa;
- Drouin-Garraud, Valérie;
- Ferraz, F.G.;
- Fourmaintraux, Alain;
- Philip, Nicole;
- Toublanc, Jean-Edmond;
- Petit, Christine
Publication type:
Article
Unilateral Sensorineural Hearing Loss: Medical Context and Etiology.
Published in:
2017
By:
- Paul, antoine;
- Marlin, Sandrine;
- Parodi, Marine;
- Rouillon, Isabelle;
- Guerlain, Joanne;
- Pingault, Véronique;
- Couloigner, Vincent;
- Garabedian, Erea Noel;
- Denoyelle, Françoise;
- Loundon, Natalie
Publication type:
journal article
Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene.
Published in:
Human Molecular Genetics, 1997, v. 6, n. 12, p. 2173, doi. 10.1093/hmg/6.12.2173
By:
- Denoyelle, Françoise;
- Weil, Dominique;
- Maw, Marion A.;
- Wilcox, Stephen A.;
- Lench, Nicholas J.;
- Allen-Powell, Denise R.;
- Osborn, Amelia H.;
- Dahl, Hans-Henrik M.;
- Middleton, Anna;
- Houseman, Mark J.;
- Dodé, Catherine;
- Marlin, Sandrine;
- Boulila-ElGaïed, Amel;
- Grati, Mohammed;
- Ayadi, Hammadi;
- BenArab, Saïda;
- Bitoun, Pierre;
- Lina-Granade, Geneviève;
- Godet, Jacqueline;
- Mustapha, Mirna
Publication type:
Article

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