A Mutation in CABP2, Expressed in Cochlear Hair Cells, Causes Autosomal-Recessive Hearing Impairment
SCHRAUWEN, Isabelle, HELFMANN, Sarah, DHEEDENE, Annelies, CLAES, Charlotte, FRANSEN, Erik, HASHEMZADEH CHALESHTORI, Morteza, COUCKE, Paul, LEE, Amy, MOSER, Tobias, VAN CAMP, Guy, INAGAKI, Akira, PREDOEHL, Friederike, AMIN TABATABAIEFAR, Mohammad, MAGDALENA PICHER, Maria, SOMMEN, Manou, ZAZO SECO, Celia, OOSTRIK, Jaap, KREMER, Hannie
Published in American journal of human genetics (05.10.2012)
Published in American journal of human genetics (05.10.2012)
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Journal Article
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands
Zazo Seco, Celia, Wesdorp, Mieke, Feenstra, Ilse, Pfundt, Rolph, Hehir-Kwa, Jayne Y, Lelieveld, Stefan H, Castelein, Steven, Gilissen, Christian, de Wijs, Ilse J, Admiraal, Ronald Jc, Pennings, Ronald Je, Kunst, Henricus Pm, van de Kamp, Jiddeke M, Tamminga, Saskia, Houweling, Arjan C, Plomp, Astrid S, Maas, Saskia M, de Koning Gans, Pia Am, Kant, Sarina G, de Geus, Christa M, Frints, Suzanna Gm, Vanhoutte, Els K, van Dooren, Marieke F, van den Boogaard, Marie-José H, Scheffer, Hans, Nelen, Marcel, Kremer, Hannie, Hoefsloot, Lies, Schraders, Margit, Yntema, Helger G
Published in European journal of human genetics : EJHG (01.02.2017)
Published in European journal of human genetics : EJHG (01.02.2017)
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Journal Article
Mutations in OTOGL, Encoding the Inner Ear Protein Otogelin-like, Cause Moderate Sensorineural Hearing Loss
YARIZ, Kemal O, DUMAN, Duygu, OOSTRIK, Jaap, DIAZ-HORTA, Oscar, YOUNG, Juan I, TOKGOZ-YILMAZ, Suna, KONUKSEVEN, Ozlem, SHAHIN, Hashem, HETTERSCHIJT, Lisette, KANAAN, Moien, OONK, Anne M. M, EDWARDS, Yvonne J. K, CELIA ZAZO SECO, HUAWEI LI, ATALAY, Semra, BLANTON, Susan, DESMIDT, Alexandra A, LIU, Xue-Zhong, PENNINGS, Ronald J. E, ZHONGMIN LU, CHEN, Zheng-Yi, KREMER, Hannie, TEKIN, Mustafa, DALLMAN, Julia, MINGQIAN HUANG, PETERS, TheoA, SIRMACI, Asli, NA LU, SCHRADERS, Margit, SKROMNE, Isaac
Published in American journal of human genetics (02.11.2012)
Published in American journal of human genetics (02.11.2012)
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Journal Article
Expanding the phenotype of the X-linked BCOR microphthalmia syndromes
Ragge, Nicola, Isidor, Bertrand, Bitoun, Pierre, Odent, Sylvie, Giurgea, Irina, Cogné, Benjamin, Deb, Wallid, Vincent, Marie, Le Gall, Jessica, Morton, Jenny, Lim, Derek, Le Meur, Guylène, Zazo Seco, Celia, Zafeiropoulou, Dimitra, Bax, Dorine, Zwijnenburg, Petra, Arteche, Anara, Swafiri, Saoud Tahsin, Cleaver, Ruth, McEntagart, Meriel, Kini, Usha, Newman, William, Ayuso, Carmen, Corton, Marta, Herenger, Yvan, Jeanne, Médéric, Calvas, Patrick, Chassaing, Nicolas
Published in Human genetics (01.09.2019)
Published in Human genetics (01.09.2019)
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Journal Article
Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal-Recessive Nonsyndromic Moderate Hearing Impairment
SCHRADERS, Margit, RUIZ-PALMERO, Laura, OONK, Anne M. M, KUNST, Henricus P. M, DOMINGUEZ-RUIZ, Maria, GARCIA-ARUMI, Ana M, DEL CAMPO, Miguel, VILLAMAR, Manuela, HOEFSLOOT, Lies H, MORENO, Felipe, ADMIRAAL, Ronald J. C, DEL CASTILLO, Ignacio, KALAY, Ersan, KREMER, Hannie, OOSTRIK, Jaap, DEL CASTILLO, Francisco J, SEZGIN, Orhan, BEYNON, Andy J, STROM, Tim M, PENNINGS, Ronald J. E, CELIA ZAZO SECO
Published in American journal of human genetics (02.11.2012)
Published in American journal of human genetics (02.11.2012)
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Journal Article
Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis
Zazo-Seco, Celia, Plaisancié, Julie, Bitoun, Pierre, Corton, Marta, Arteche, Ana, Ayuso, Carmen, Schneider, Adele, Zafeiropoulou, Dimitra, Gilissen, Christian, Roche, Olivier, Frémont, Felix, Calvas, Patrick, Slavotinek, Anne, Ragge, Nicola, Chassaing, Nicolas
Published in Journal of human genetics (01.05.2020)
Published in Journal of human genetics (01.05.2020)
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Journal Article
A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
Zazo Seco, Celia, Castells-Nobau, Anna, Joo, Seol-Hee, Schraders, Margit, Foo, Jia Nee, van der Voet, Monique, Velan, S Sendhil, Nijhof, Bonnie, Oostrik, Jaap, de Vrieze, Erik, Katana, Radoslaw, Mansoor, Atika, Huynen, Martijn, Szklarczyk, Radek, Oti, Martin, Tranebjærg, Lisbeth, van Wijk, Erwin, Scheffer-de Gooyert, Jolanda M, Siddique, Saadat, Baets, Jonathan, de Jonghe, Peter, Kazmi, Syed Ali Raza, Sadananthan, Suresh Anand, van de Warrenburg, Bart P, Khor, Chiea Chuen, Göpfert, Martin C, Qamar, Raheel, Schenck, Annette, Kremer, Hannie, Siddiqi, Saima
Published in Disease models & mechanisms (01.02.2017)
Published in Disease models & mechanisms (01.02.2017)
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Journal Article
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies
Holt, Richard J., Young, Rodrigo M., Crespo, Berta, Ceroni, Fabiola, Curry, Cynthia J., Bellacchio, Emanuele, Bax, Dorine A., Ciolfi, Andrea, Simon, Marleen, Fagerberg, Christina R., van Binsbergen, Ellen, De Luca, Alessandro, Memo, Luigi, Dobyns, William B., Mohammed, Alaa Afif, Clokie, Samuel J.H., Zazo Seco, Celia, Jiang, Yong-Hui, Sørensen, Kristina P., Andersen, Helle, Sullivan, Jennifer, Powis, Zöe, Chassevent, Anna, Smith-Hicks, Constance, Petrovski, Slavé, Antoniadi, Thalia, Shashi, Vandana, Gelb, Bruce D., Wilson, Stephen W., Gerrelli, Dianne, Tartaglia, Marco, Chassaing, Nicolas, Calvas, Patrick, Ragge, Nicola K.
Published in American journal of human genetics (05.09.2019)
Published in American journal of human genetics (05.09.2019)
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Journal Article
Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families
Shafique, Sobia, Siddiqi, Saima, Schraders, Margit, Oostrik, Jaap, Ayub, Humaira, Bilal, Ammad, Ajmal, Muhammad, Seco, Celia Zazo, Strom, Tim M, Mansoor, Atika, Mazhar, Kehkashan, Shah, Syed Tahir A, Hussain, Alamdar, Azam, Maleeha, Kremer, Hannie, Qamar, Raheel
Published in PloS one (20.06.2014)
Published in PloS one (20.06.2014)
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Journal Article
Identification of PITX3 mutations in individuals with various ocular developmental defects
Zazo Seco, Celia, Plaisancié, Julie, Lupasco, Tatiana, Michot, Caroline, Pechmeja, Jacmine, Delanne, Julian, Cottereau, Edouard, Ayuso, Carmen, Corton, Marta, Calvas, Patrick, Ragge, Nicola, Chassaing, Nicolas
Published in Ophthalmic genetics (04.05.2018)
Published in Ophthalmic genetics (04.05.2018)
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Journal Article
Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5
Seco, Celia Zazo, Oonk, Anne M M, Domínguez-Ruiz, María, Draaisma, Jos M T, Gandía, Marta, Oostrik, Jaap, Neveling, Kornelia, Kunst, Henricus P M, Hoefsloot, Lies H, del Castillo, Ignacio, Pennings, Ronald J E, Kremer, Hannie, Admiraal, Ronald J C, Schraders, Margit
Published in European journal of human genetics : EJHG (01.02.2015)
Published in European journal of human genetics : EJHG (01.02.2015)
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Journal Article
Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2
Zazo Seco, Celia, Serrão de Castro, Luciana, van Nierop, Josephine W., Morín, Matías, Jhangiani, Shalini, Verver, Eva J.J., Schraders, Margit, Maiwald, Nadine, Wesdorp, Mieke, Venselaar, Hanka, Spruijt, Liesbeth, Oostrik, Jaap, Schoots, Jeroen, van Reeuwijk, Jeroen, Lelieveld, Stefan H., Huygen, Patrick L.M., Insenser, María, Admiraal, Ronald J.C., Pennings, Ronald J.E., Hoefsloot, Lies H., Arias-Vásquez, Alejandro, de Ligt, Joep, Yntema, Helger G., Jansen, Joop H., Muzny, Donna M., Huls, Gerwin, van Rossum, Michelle M., Lupski, James R., Moreno-Pelayo, Miguel Angel, Kunst, Henricus P.M., Kremer, Hannie
Published in American journal of human genetics (05.11.2015)
Published in American journal of human genetics (05.11.2015)
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Journal Article
Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells
Seco, Celia Zazo, Giese, Arnaud P, Shafique, Sobia, Schraders, Margit, Oonk, Anne M M, Grossheim, Mike, Oostrik, Jaap, Strom, Tim, Hegde, Rashmi, van Wijk, Erwin, Frolenkov, Gregory I, Azam, Maleeha, Yntema, Helger G, Free, Rolien H, Riazuddin, Saima, Verheij, Joke B G M, Admiraal, Ronald J, Qamar, Raheel, Ahmed, Zubair M, Kremer, Hannie
Published in European journal of human genetics : EJHG (01.04.2016)
Published in European journal of human genetics : EJHG (01.04.2016)
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Journal Article
Trends in genetic diagnostics of hereditary hearing loss
Pennings, Ronald, Seco, Celia Zazo, Wesdorp, Mieke, Feenstra, Ilse, Kremer, Hannie, Hoefsloot, Lies, Schraders, Margit, Yntema, Helger G.
Published in Journal of laryngology and otology (01.05.2016)
Published in Journal of laryngology and otology (01.05.2016)
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Journal Article
Trends in genetic diagnostics of hereditary hearing loss: Presenting Author: Ronald Pennings
Pennings, Ronald, Seco, Celia Zazo, Wesdorp, Mieke, Feenstra, Ilse, Kremer, Hannie, Hoefsloot, Lies, Schraders, Margit, Yntema, Helger G.
Published in Journal of laryngology and otology (01.05.2016)
Published in Journal of laryngology and otology (01.05.2016)
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Journal Article
Detection of Hypomethylation Syndrome among Patients with Epigenetic Alterations at the GNAS Locus
Perez-Nanclares, Gustavo, Romanelli, Valeria, Mayo, Sonia, Garin, Intza, Zazo, Celia, Fernandez-Rebollo, Eduardo, Martínez, Francisco, Lapunzina, Pablo, de Nanclares, Guiomar Pérez, the Spanish PHP Group
Published in The journal of clinical endocrinology and metabolism (01.06.2012)
Published in The journal of clinical endocrinology and metabolism (01.06.2012)
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Journal Article
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies
Holt, Richard J., Young, Rodrigo M., Crespo, Berta, Ceroni, Fabiola, Curry, Cynthia J., Bellacchio, Emanuele, Bax, Dorine A., Ciolfi, Andrea, Simon, Marleen, Fagerberg, Christina R., van Binsbergen, Ellen, De Luca, Alessandro, Memo, Luigi, Dobyns, William B., Mohammed, Alaa Afif, Clokie, Samuel J.H., Zazo Seco, Celia, Jiang, Yong-Hui, Sørensen, Kristina P., Andersen, Helle, Sullivan, Jennifer, Powis, Zöe, Chassevent, Anna, Smith-Hicks, Constance, Petrovski, Slavé, Antoniadi, Thalia, Shashi, Vandana, Gelb, Bruce D., Wilson, Stephen W., Gerrelli, Dianne, Tartaglia, Marco, Chassaing, Nicolas, Calvas, Patrick, Ragge, Nicola K.
Published in American journal of human genetics (05.09.2019)
Published in American journal of human genetics (05.09.2019)
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Journal Article
Identification of PITX3 mutations in individuals with various ocular developmental defects
Zazo Seco, Celia, Plaisancié, Julie, Lupasco, Tatiana, Michot, Caroline, Pechmeja, Jacmine, Delanne, Julian, Cottereau, Edouard, Ayuso, Carmen, Corton, Marta, Calvas, Patrick, Ragge, Nicola, Chassaing, Nicolas
Published in Ophthalmic Genetics (04.05.2018)
Published in Ophthalmic Genetics (04.05.2018)
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