Search Results - "Schraders, Margit"

SDH5, a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in Paraganglioma by Hao, Huai-Xiang, Khalimonchuk, Oleh, Schraders, Margit, Dephoure, Noah, Bayley, Jean-Pierre, Kunst, Henricus, Devilee, Peter, Cremers, Cor W.R.J, Schiffman, Joshua D, Bentz, Brandon G, Gygi, Steven P, Winge, Dennis R, Kremer, Hannie, Rutter, Jared

“…Mammalian mitochondria contain about 1100 proteins, nearly 300 of which are uncharacterized. Given the well-established role of mitochondrial defects in human…”
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Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families by 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

“…The frequency of inherited bilateral autosomal recessive non-syndromic hearing loss (ARNSHL) in Pakistan is 1.6/1000 individuals. More than 50% of the families…”
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Grxcr2 is required for stereocilia morphogenesis in the cochlea by Avenarius, Matthew R, Jung, Jae-Yun, Askew, Charles, Jones, Sherri M, Hunker, Kristina L, Azaiez, Hela, Rehman, Atteeq U, Schraders, Margit, Najmabadi, Hossein, Kremer, Hannie, Smith, Richard J H, Géléoc, Gwenaëlle S G, Dolan, David F, Raphael, Yehoash, Kohrman, David C

“…Hearing and balance depend upon the precise morphogenesis and mechanosensory function of stereocilia, the specialized structures on the apical surface of…”
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Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5 by 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

“…In a consanguineous Turkish family diagnosed with autosomal recessive nonsyndromic hearing impairment (arNSHI), a homozygous region of 47.4 Mb was shared by…”
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Next-Generation Sequencing Identifies Mutations of SMPX, which Encodes the Small Muscle Protein, X-Linked, as a Cause of Progressive Hearing Impairment by Schraders, Margit, Haas, Stefan A., Weegerink, Nicole J.D., Oostrik, Jaap, Hu, Hao, Hoefsloot, Lies H., Kannan, Sriram, Huygen, Patrick L.M., Pennings, Ronald J.E., Admiraal, Ronald J.C., Kalscheuer, Vera M., Kunst, Henricus P.M., Kremer, Hannie

“…In a Dutch family with an X-linked postlingual progressive hearing impairment, a critical linkage interval was determined to span a region of 12.9 Mb flanked…”
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Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome by Siddiqi, Saima, Siddiq, Saadat, Mansoor, Atika, Oostrik, Jaap, Ahmad, Nafees, Kazmi, Syed Ali Raza, Kremer, Hannie, Qamar, Raheel, Schraders, Margit

“…Bjørnstad syndrome is an extremely rare condition characterized by pilitorti and nerve deafness. Only few large families have been reported worldwide. Here we…”
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A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family by Siddiqi, Saima, Ismail, Muhammad, Oostrik, Jaap, Munawar, Saba, Mansoor, Atika, Kremer, Hannie, Qamar, Raheel, Schraders, Margit

“…With homozygosity mapping we have identified two large homozygous regions on chromosome 3q13.11-q13.31 and chromosome 19p13.3-q31.32 in a large Pakistani…”
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Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss by Li, Yun, Pohl, Esther, Boulouiz, Redouane, Schraders, Margit, Nürnberg, Gudrun, Charif, Majida, Admiraal, Ronald J.C., von Ameln, Simon, Baessmann, Ingelore, Kandil, Mostafa, Veltman, Joris A., Nürnberg, Peter, Kubisch, Christian, Barakat, Abdelhamid, Kremer, Hannie, Wollnik, Bernd

“…We performed genome-wide homozygosity mapping in a large consanguineous family from Morocco and mapped the autosomal-recessive nonsyndromic hearing loss…”
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Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment by Schraders, Margit, Lee, Kwanghyuk, Oostrik, Jaap, Huygen, Patrick L.M., Ali, Ghazanfar, Hoefsloot, Lies H., Veltman, Joris A., Cremers, Frans P.M., Basit, Sulman, Ansar, Muhammad, Cremers, Cor W.R.J., Kunst, Henricus P.M., Ahmad, Wasim, Admiraal, Ronald J.C., Leal, Suzanne M., Kremer, Hannie

“…We identified overlapping homozygous regions within the DFNB25 locus in two Dutch and ten Pakistani families with sensorineural autosomal-recessive…”
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Novel chromosomal imbalances in mantle cell lymphoma detected by genome-wide array-based comparative genomic hybridization by Schraders, Margit, Pfundt, Rolph, Straatman, Huub M.P., Janssen, Irene M., van Kessel, Ad Geurts, Schoenmakers, Eric F.P.M., van Krieken, Johan H.J.M., Groenen, Patricia J.T.A.

“…Mantle cell lymphoma (MCL) is an aggressive, highly proliferative B-cell non-Hodgkin lymphoma, characterized by the specific t(11;14)(q13;q32) translocation…”
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Increased Vascularization Predicts Favorable Outcome in Follicular Lymphoma by KOSTER, Ad, VAN KRIEKEN, Joannes H. J. M, MACKENZIE, Marius A, SCHRADERS, Margit, BORM, George F, VAN DER LAAK, Jeroen A. W. M, LEENDERS, William, HEBEDA, Konnie, RAEMAEKERS, John M. M

“…Purpose: In malignant lymphoma, angiogenesis has been associated with adverse outcome or more aggressive clinical behavior. This correlation has been…”
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Promoter methylation of PARG1, a novel candidate tumor suppressor gene in mantle cell lymphomas by Ripperger, Tim, von Neuhoff, Nils, Kamphues, Kathrin, Emura, Makito, Lehmann, Ulrich, Tauscher, Marcel, Schraders, Margit, Groenen, Patricia, Skawran, Britta, Rudolph, Cornelia, Callet-Bauchu, Evelyne, van Krieken, Johan H.J.M, Schlegelberger, Brigitte, Steinemann, Doris

“…Institute of Cell and Molecular Pathology (TR, NVN, KK, ME, MT, BS, CR, BS, DS); Institute of Pathology, Hannover Medical School, Germany (UL); Department of…”
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De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment by Smits, Jeroen J., Oostrik, Jaap, Beynon, Andy J., Kant, Sarina G., de Koning Gans, Pia A. M., Rotteveel, Liselotte J. C., Klein Wassink-Ruiter, Jolien S., Free, Rolien H., Maas, Saskia M., van de Kamp, Jiddeke, Merkus, Paul, Koole, Wouter, Feenstra, Ilse, Admiraal, Ronald J. C., Lanting, Cornelis P., Schraders, Margit, Yntema, Helger G., Pennings, Ronald J. E., Kremer, Hannie

“…ATP2B2 encodes the PMCA2 Ca 2+ pump that plays an important role in maintaining ion homeostasis in hair cells among others by extrusion of Ca 2+ from the…”
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Mutations in OTOGL, Encoding the Inner Ear Protein Otogelin-like, Cause Moderate Sensorineural Hearing Loss by 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

“…Hereditary hearing loss is characterized by a high degree of genetic heterogeneity. Here we present OTOGL mutations, a homozygous one base pair deletion…”
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A Novel COCH Mutation Affects the vWFA2 Domain and Leads to a Relatively Mild DFNA9 Phenotype by Smits, Jeroen J., van Beelen, Eline, Weegerink, Nicole J. D., Oostrik, Jaap, Huygen, Patrick L. M., Beynon, Andy J., Lanting, Cornelis P., Kunst, Henricus P. M., Schraders, Margit, Kremer, Hannie, de Vrieze, Erik, Pennings, Ronald J. E.

“…To study the genotype and phenotype of a Dutch family with autosomal dominantly inherited hearing loss. Genotype-phenotype correlation study. Genetic analysis…”
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Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human by Noben-Trauth, Konrad, Charizopoulou, Nikoletta, Lelli, Andrea, Schraders, Margit, Ray, Kausik, Hildebrand, Michael S, Ramesh, Arabandi, Srisailapathy, C. R. Srikumari, Oostrik, Jaap, Admiraal, Ronald J. C, Neely, Harold R, Latoche, Joseph R, Smith, Richard J. H, Northup, John K, Kremer, Hannie, Holt, Jeffrey R

“…Sensorineural hearing loss affects the quality of life and communication of millions of people, but the underlying molecular mechanisms remain elusive. Here,…”
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Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal-Recessive Nonsyndromic Moderate Hearing Impairment by 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

“…Already 40 genes have been identified for autosomal-recessive nonsyndromic hearing impairment (arNSHI); however, many more genes are still to be identified. In…”
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Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment by Wesdorp, Mieke, van de Kamp, Jiddeke M., Hensen, Erik F., Schraders, Margit, Oostrik, Jaap, Yntema, Helger G., Feenstra, Ilse, Admiraal, Ronald J.C., Kunst, Henricus P.M., Tekin, Mustafa, Kanaan, Moien, Kremer, Hannie, Pennings, Ronald J.E.

“…DFNB28 is characterized by prelingual, severe to profound sensorineural hearing impairment (HI). It is associated with mutations in exon 6 and 7 of TRIOBP and…”
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Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells by 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

“…Variants in CIB2 can underlie either Usher syndrome type I (USH1J) or nonsyndromic hearing impairment (NSHI) (DFNB48). Here, a novel homozygous missense…”
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Mutations in PTPRQ Are a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB84 and Associated with Vestibular Dysfunction by Schraders, Margit, Oostrik, Jaap, Huygen, Patrick L.M., Strom, Tim M., van Wijk, Erwin, Kunst, Henricus P.M., Hoefsloot, Lies H., Cremers, Cor W.R.J., Admiraal, Ronald J.C., Kremer, Hannie

“…We identified overlapping homozygous regions within the DFNB84 locus in a nonconsanguineous Dutch family and a consanguineous Moroccan family with…”
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