Search Results - "Matejas, Verena"

Ophthalmological Aspects of Pierson Syndrome by Bredrup, Cecilie, Matejas, Verena, Barrow, Margaret, Bláhová, Květa, Bockenhauer, Detlef, Fowler, Darren J, Gregson, Richard M, Maruniak-Chudek, Iwona, Medeira, Ana, Mendonça, Erica Laima, Kagan, Mikhail, Koenig, Jens, Krastel, Hermann, Kroes, Hester Y, Saggar, Anand, Sawyer, Taylor, Schittkowski, Michael, Świetliński, Janusz, Thompson, Dorothy, VanDeVoorde, Rene G, Wittebol-Post, Dienke, Woodruff, Geoffrey, Zurowska, Aleksandra, Hennekam, Raoul C, Zenker, Martin, Russell-Eggitt, Isabelle

“…Purpose To study the ocular phenotype of Pierson syndrome and to increase awareness among ophthalmologists of the diagnostic features of this condition. Design…”
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Neurodevelopmental deficits in Pierson (microcoria-congenital nephrosis) syndrome by Wühl, Elke, Kogan, Jillene, Zurowska, Aleksandra, Matejas, Verena, Vandevoorde, Rene G., Aigner, Thomas, Wendler, Olaf, Lesniewska, Iga, Bouvier, Raymonde, Reis, André, Weis, Joachim, Cochat, Pierre, Zenker, Martin

“…Pierson syndrome is an autosomal recessive disorder comprising congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct eye abnormalities…”
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Mutations in the human laminin β2 (LAMB2) gene and the associated phenotypic spectruma by Matejas, Verena, Hinkes, Bernward, Alkandari, Faisal, Al-Gazali, Lihadh, Annexstad, Ellen, Aytac, Mehmet B, Barrow, Margaret, Bláhová, Květa, Bockenhauer, Detlef, Cheong, Hae Il, Maruniak-Chudek, Iwona, Cochat, Pierre, Dötsch, Jörg, Gajjar, Priya, Hennekam, Raoul C, Janssen, Françoise, Kagan, Mikhail, Kariminejad, Ariana, Kemper, Markus J, Koenig, Jens, Kogan, Jillene, Kroes, Hester Y, Kuwertz-Bröking, Eberhard, Lewanda, Amy F, Medeira, Ana, Muscheites, Jutta, Niaudet, Patrick, Pierson, Michel, Saggar, Anand, Seaver, Laurie, Suri, Mohnish, Tsygin, Alexey, Wühl, Elke, Zurowska, Aleksandra, Uebe, Steffen, Hildebrandt, Friedhelm, Antignac, Corinne, Zenker, Martin

“…Mutations of LAMB2 typically cause autosomal recessive Pierson syndrome, a disorder characterized by congenital nephrotic syndrome, ocular and neurologic…”
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Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly by Braun, Daniela A, Rao, Jia, Mollet, Geraldine, Schapiro, David, Daugeron, Marie-Claire, Tan, Weizhen, Gribouval, Olivier, Boyer, Olivia, Revy, Patrick, Jobst-Schwan, Tilman, Schmidt, Johanna Magdalena, Lawson, Jennifer A, Schanze, Denny, Ashraf, Shazia, Ullmann, Jeremy F P, Hoogstraten, Charlotte A, Boddaert, Nathalie, Collinet, Bruno, Martin, Gaëlle, Liger, Dominique, Lovric, Svjetlana, Furlano, Monica, Guerrera, I Chiara, Sanchez-Ferras, Oraly, Hu, Jennifer F, Boschat, Anne-Claire, Sanquer, Sylvia, Menten, Björn, Vergult, Sarah, De Rocker, Nina, Airik, Merlin, Hermle, Tobias, Shril, Shirlee, Widmeier, Eugen, Gee, Heon Yung, Choi, Won-Il, Sadowski, Carolin E, Pabst, Werner L, Warejko, Jillian K, Daga, Ankana, Basta, Tamara, Matejas, Verena, Scharmann, Karin, Kienast, Sandra D, Behnam, Babak, Beeson, Brendan, Begtrup, Amber, Bruce, Malcolm, Ch'ng, Gaik-Siew, Lin, Shuan-Pei, Chang, Jui-Hsing, Chen, Chao-Huei, Cho, Megan T, Gaffney, Patrick M, Gipson, Patrick E, Hsu, Chyong-Hsin, Kari, Jameela A, Ke, Yu-Yuan, Kiraly-Borri, Cathy, Lai, Wai-ming, Lemyre, Emmanuelle, Littlejohn, Rebecca Okashah, Masri, Amira, Moghtaderi, Mastaneh, Nakamura, Kazuyuki, Ozaltin, Fatih, Praet, Marleen, Prasad, Chitra, Roeder, Elizabeth R, Rump, Patrick, Schnur, Rhonda E, Shiihara, Takashi, Sinha, Manish D, Soliman, Neveen A, Soulami, Kenza, Sweetser, David A, Tsai, Wen-Hui, Tsai, Jeng-Daw, Topaloglu, Rezan, Vester, Udo, Viskochil, David H, Vatanavicharn, Nithiwat, Wierenga, Klaas J, Wolf, Matthias T F, Wong, Sik-Nin, Leidel, Sebastian A, Truglio, Gessica, Dedon, Peter C, Poduri, Annapurna, Mane, Shrikant, Lifton, Richard P, Bouchard, Maxime, Kannu, Peter, Chitayat, David, Magen, Daniella, Callewaert, Bert, van Tilbeurgh, Herman, Zenker, Martin, Antignac, Corinne, Hildebrandt, Friedhelm

“…Martin Zenker, Corinne Antignac, Friedhelm Hildebrandt and colleagues report that mutations in OSGEP , TP53RK , TPRKB and LAGE3 , genes encoding KEOPS-complex…”
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COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness by Heeringa, Saskia F, Chernin, Gil, Chaki, Moumita, Zhou, Weibin, Sloan, Alexis J, Ji, Ziming, Xie, Letian X, Salviati, Leonardo, Hurd, Toby W, Vega-Warner, Virginia, Killen, Paul D, Raphael, Yehoash, Ashraf, Shazia, Ovunc, Bugsu, Schoeb, Dominik S, McLaughlin, Heather M, Airik, Rannar, Vlangos, Christopher N, Gbadegesin, Rasheed, Hinkes, Bernward, Saisawat, Pawaree, Trevisson, Eva, Doimo, Mara, Casarin, Alberto, Pertegato, Vanessa, Giorgi, Gianpietro, Prokisch, Holger, Rötig, Agnès, Nürnberg, Gudrun, Becker, Christian, Wang, Su, Ozaltin, Fatih, Topaloglu, Rezan, Bakkaloglu, Aysin, Bakkaloglu, Sevcan A, Müller, Dominik, Beissert, Antje, Mir, Sevgi, Berdeli, Afig, Varpizen, Seza, Zenker, Martin, Matejas, Verena, Santos-Ocaña, Carlos, Navas, Placido, Kusakabe, Takehiro, Kispert, Andreas, Akman, Sema, Soliman, Neveen A, Krick, Stefanie, Mundel, Peter, Reiser, Jochen, Nürnberg, Peter, Clarke, Catherine F, Wiggins, Roger C, Faul, Christian, Hildebrandt, Friedhelm

“…Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of end-stage renal failure. Identification of single-gene causes of SRNS has generated some…”
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Mutations in the human laminin β2 (LAMB2) gene and the associated phenotypic spectrum by Matejas, Verena, Hinkes, Bernward, Alkandari, Faisal, Al-Gazali, Lihadh, Annexstad, Ellen, Aytac, Mehmet B., Barrow, Margaret, Bláhová, Květa, Bockenhauer, Detlef, Cheong, Hae Il, Maruniak-Chudek, Iwona, Cochat, Pierre, Dötsch, Jörg, Gajjar, Priya, Hennekam, Raoul C., Janssen, Françoise, Kagan, Mikhail, Kariminejad, Ariana, Kemper, Markus J., Koenig, Jens, Kogan, Jillene, Kroes, Hester Y., Kuwertz-Bröking, Eberhard, Lewanda, Amy F., Medeira, Ana, Muscheites, Jutta, Niaudet, Patrick, Pierson, Michel, Saggar, Anand, Seaver, Laurie, Suri, Mohnish, Tsygin, Alexey, Wühl, Elke, Zurowska, Aleksandra, Uebe, Steffen, Hildebrandt, Friedhelm, Antignac, Corinne, Zenker, Martin

“…Mutations of LAMB2 typically cause autosomal recessive Pierson syndrome, a disorder characterized by congenital nephrotic syndrome, ocular and neurologic…”
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Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS) by Schoeb, Dominik S., Chernin, Gil, Heeringa, Saskia F., Matejas, Verena, Held, Susanne, Vega-Warner, Virginia, Bockenhauer, Detlef, Vlangos, Christopher N., Moorani, Khemchand N., Neuhaus, Thomas J., Kari, Jameela A., MacDonald, James, Saisawat, Pawaree, Ashraf, Shazia, Ovunc, Bugsu, Zenker, Martin, Hildebrandt, Friedhelm

“…Background. Recessive mutations in the NPHS1 gene encoding nephrin account for ∼40% of infants with congenital nephrotic syndrome (CNS). CNS is defined as…”
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A milder variant of Pierson syndrome by Kagan, Mikhail, Cohen, Arthur H., Matejas, Verena, Vlangos, Christopher, Zenker, Martin

“…Congenital nephrotic syndrome (CNS) comprises a heterogeneous group of conditions having in common the disruption of normal glomerular permselectivity, and it…”
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Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR by Lehnhardt, Anja, Lama, Albert, Amann, Kerstin, Matejas, Verena, Zenker, Martin, Kemper, Markus J.

“…Background Pierson syndrome, caused by mutations in the LAMB2 gene, was originally described as a combination of microcoria and congenital nephrotic syndrome,…”
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A syndrome comprising childhood-onset glomerular kidney disease and ocular abnormalities with progressive loss of vision is caused by mutated LAMB2 by Matejas, Verena, Al-Gazali, Lihadh, Amirlak, Iradj, Zenker, Martin

“…Background. Pierson syndrome (OMIM 609049) is a severe congenital oculorenal disorder with early lethality. The condition is caused by mutations in the LAMB2…”
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SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome by Zenker, Martin, Horn, Denise, Wieczorek, Dagmar, Allanson, Judith, Pauli, Silke, van der Burgt, Ineke, Doerr, Helmuth-Guenther, Gaspar, Harald, Hofbeck, Michael, Gillessen-Kaesbach, Gabriele, Koch, Andreas, Meinecke, Peter, Mundlos, Stefan, Nowka, Anja, Rauch, Anita, Reif, Silke, von Schnakenburg, Christian, Seidel, Heide, Wehner, Lars-Erik, Zweier, Christiane, Bauhuber, Susanne, Matejas, Verena, Kratz, Christian P, Thomas, Christoph, Kutsche, Kerstin

“…Background: Heterozygous gain-of-function mutations in various genes encoding proteins of the Ras-MAPK signalling cascade have been identified as the genetic…”
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Mutations in the evolutionarily highly conserved KEOPS complex genes cause nephrotic syndrome with microcephaly by Braun, Daniela A., Rao, Jia, Mollet, Geraldine, Schapiro, David, Daugeron, Marie-Claire, Tan, Weizhen, Gribouval, Olivier, Boyer, Olivia, Revy, Patrick, Jobst-Schwan, Tilman, Schmidt, Johanna Magdalena, Lawson, Jennifer A., Schanze, Denny, Ashraf, Shazia, Boddaert, Nathalie, Collinet, Bruno, Martin, Gaëlle, Liger, Dominique, Lovric, Svjetlana, Furlano, Monica, Guerrera, I. Chiara, Sanchez-Ferras, Oraly, Menten, Björn, Vergult, Sarah, De Rocker, Nina, Airik, Merlin, Hermle, Tobias, Shril, Shirlee, Widmeier, Eugen, Gee, Heon Yung, Choi, Won-Il, Sadowski, Carolin E., Pabst, Werner L., Warejko, Jillian, Daga, Ankana, LeBerre, Tamara Basta, Matejas, Verena, Behnam, Babak, Beeson, Brendan, Begtrup, Amber, Bruce, Malcolm, Ch'ng, Gaik-Siew, Lin, Shuan-Pei, Chang, Jui-Hsing, Chen, Chao-Huei, Cho, Megan T., Gipson, Patrick E., Hsu, Chyong-Hsin, Kari, Jameela A., Ke, Yu-Yuan, Kiraly-Borri, Cathy, Lai, Wai-ming, Lemyre, Emmanuelle, Littlejohn, Rebecca Okasha, Masri, Amira, Moghtaderi, Mastaneh, Nakamura, Kazuyuki, Praet, Marleen, Prasad, Chitra, Prytula, Agnieszka, Roeder, Elizabeth, Rump, Patrick, Schnur, Rhonda E., Shiihara, Takashi, Sinha, Manish, Soliman, Neveen A, Soulami, Kenza, Sweetser, David A., Tsai, Wen-Hui, Tsai, Jeng-Daw, Vester, Udo, Viskochil, David H., Vatanavicharn, Nithiwat, Waxler, Jessica L., Wolf, Matthias T.F., Wong, Sik-Nin, Poduri, Annapurna, Truglio, Gessica, Mane, Shrikant, Lifton, Richard P., Bouchard, Maxime, Kannu, Peter, Chitayat, David, Magen, Daniella, Calleweart, Bert, van Tilbeurgh, Herman, Zenker, Martin, Antignac, Corinne, Hildebrandt, Friedhelm

“…Galloway-Mowat syndrome (GAMOS) is a severe autosomal-recessive disease characterized by the combination of early-onset steroid-resistant nephrotic syndrome…”
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Variable phenotype of Pierson syndrome by Choi, Hyun Jin, Lee, Beom Hee, Kang, Ju Hyung, Jeong, Hyoen Joo, Moon, Kyung Chul, Ha, Il Soo, Yu, Young Suk, Matejas, Verena, Zenker, Martin, Choi, Yong, Cheong, Hae Il

“…Pierson syndrome is caused by mutations in the LAMB2 gene, which encodes the laminin β2 chain, and is clinically characterized by congenital nephrotic syndrome…”
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Paternal isodisomy of chromosome 3 unmasked by autosomal recessive microcoria-congenital nephrosis syndrome (Pierson syndrome) in a child with no other phenotypic abnormalities by Matejas, Verena, Muscheites, Jutta, Wigger, Marianne, Kreutzer, Hans-Jürgen, Nizze, Horst, Zenker, Martin

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Fraser and Ablepharon macrostomia phenotypes: Concurrence in one family and association with mutated FRAS1 by Cavalcanti, Denise Pontes, Matejas, Verena, Luquetti, Daniela, Mello, Marcos Fernando, Zenker, Martin

“…To date, Fraser syndrome (FS) and Ablepharon macrostomia syndrome (AMS) have been considered distinct disorders, but they share strikingly similar patterns of…”
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Analysis of genes encoding laminin beta 2 and related proteins in patients with Galloway-Mowat syndrome by Dietrich, Andreas, Matejas, Verena, Bitzan, Martin, Hashmi, Seema, Kiraly-Borri, Cathy, Lin, Shuan-Pei, Mildenberger, Eva, Hoppe, Bernd, Palm, Lars, Shiihara, Takashi, Steiss, Jens-Oliver, Tsai, Jeng-Daw, Vester, Udo, Weber, Stefanie, Wuehl, Elke, Zepf, Kristina, Zenker, Martin

“…Galloway-Mowat syndrome (GMS) is a rare autosomal recessive disorder characterized by early onset nephrotic syndrome and microcephaly with various anomalies of…”
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Analysis of genes encoding laminin β2 and related proteins in patients with Galloway–Mowat syndrome by Dietrich, Andreas, Matejas, Verena, Bitzan, Martin, Hashmi, Seema, Kiraly-Borri, Cathy, Lin, Shuan-Pei, Mildenberger, Eva, Hoppe, Bernd, Palm, Lars, Shiihara, Takashi, Steiss, Jens-Oliver, Tsai, Jeng-Daw, Vester, Udo, Weber, Stefanie, Wühl, Elke, Zepf, Kristina, Zenker, Martin

“…Galloway–Mowat syndrome (GMS) is a rare autosomal recessive disorder characterized by early onset nephrotic syndrome and microcephaly with various anomalies of…”
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Mutations in the human laminin [beta]2 (LAMB2) gene and the associated phenotypic spectruma by Matejas, Verena, Hinkes, Bernward, Alkandari, Faisal, Al-Gazali, Lihadh, Annexstad, Ellen, Aytac, Mehmet B, Barrow, Margaret, Blahova, Kvta, Bockenhauer, Detlef, Cheong, Hae Il, Maruniak-Chudek, Iwona, Cochat, Pierre, Dotsch, Jörg, Gajjar, Priya, Hennekam, Raoul C, Janssen, Françoise, Kagan, Mikhail, Kariminejad, Ariana, Kemper, Markus J, Koenig, Jens, Kogan, Jillene, Kroes, Hester Y, Kuwertz-Broking, Eberhard, Lewanda, Amy F, Medeira, Ana, Muscheites, Jutta, Niaudet, Patrick, Pierson, Michel, Saggar, Anand, Seaver, Laurie, Suri, Mohnish, Tsygin, Alexey, Wuhl, Elke, Zurowska, Aleksandra, Uebe, Steffen, Hildebrandt, Friedhelm, Antignac, Corinne, Zenker, Martin

“…Mutations of LAMB2 typically cause autosomal recessive Pierson syndrome, a disorder characterized by congenital nephrotic syndrome, ocular and neurologic…”
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Mutations in the human laminin Delta b2 (LAMB2) gene and the associated phenotypic spectrum by Matejas, Verena, Hinkes, Bernward, Alkandari, Faisal, Al-Gazali, Lihadh, Annexstad, Ellen, Aytac, Mehmet B, Barrow, Margaret, Blahova, Kveta, Bockenhauer, Detlef, Cheong, Hae Il, Maruniak-Chudek, Iwona, Cochat, Pierre, Dotsch, Jorg, Gajjar, Priya, Hennekam, Raoul C, Janssen, Francoise, Kagan, Mikhail, Kariminejad, Ariana, Kemper, Markus J, Koenig, Jens, Kogan, Jillene, Kroes, Hester Y, Kuwertz-Broking, Eberhard, Lewanda, Amy F, Medeira, Ana, Muscheites, Jutta, Niaudet, Patrick, Pierson, Michel, Saggar, Anand, Seaver, Laurie, Suri, Mohnish, Tsygin, Alexey, Wuhl, Elke, Zurowska, Aleksandra, Uebe, Steffen, Hildebrandt, Friedhelm, Antignac, Corinne, Zenker, Martin

“…Mutations of LAMB2 typically cause autosomal recessive Pierson syndrome, a disorder characterized by congenital nephrotic syndrome, ocular and neurologic…”
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Analysis of genes encoding laminin [beta]2 and related proteins in patients with Galloway-Mowat syndrome by Dietrich, Andreas, Matejas, Verena, Bitzan, Martin, Hashmi, Seema, Kiraly-borri, Cathy, Lin, Shuan-pei, Mildenberger, Eva, Hoppe, Bernd, Palm, Lars, Shiihara, Takashi, Steiss, Jens-oliver, Tsai, Jeng-daw, Vester, Udo, Weber, Stefanie, Wühl, Elke, Zepf, Kristina, Zenker, Martin

“…Galloway-Mowat syndrome (GMS) is a rare autosomal recessive disorder characterized by early onset nephrotic syndrome and microcephaly with various anomalies of…”
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