The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein
Meindl, Alfons, Pusch, Carsten M, Zeitz, Christina, Brandau, Oliver, Pesch, Katrin, Achatz, Helene, Feil, Silke, Scharfe, Curt, Maurer, Johannes, Jacobi, Felix K, Pinckers, Alfred, Andreasson, Sten, Hardcastle, Alison, Wissinger, Bernd, Berger, Wolfgang
Published in Nature genetics (01.11.2000)
Published in Nature genetics (01.11.2000)
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Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins
Meindl, Alfons, Berger, Wolfgang, Meitinger, Thomas, van de Pol, Dorien, Achatz, Helene, Dörner, Christa, Haasemann, Martina, Hellebrand, Heide, Gal, Andreas, Cremers, Frans, Ropers, Hans-Hilger
Published in Nature genetics (01.10.1992)
Published in Nature genetics (01.10.1992)
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Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene
Coffey, Alison J, Brooksbank, Robert A, Brandau, Oliver, Oohashi, Toshitaka, Howell, Gareth R, Bye, Jacqueline M, Cahn, Anthony P, Durham, Jillian, Heath, Paul, Wray, Paul, Pavitt, Rebecca, Wilkinson, Jane, Leversha, Margaret, Huckle, Elizabeth, Shaw-Smith, Charles J, Dunham, Andrew, Rhodes, Susan, Schuster, Volker, Porta, Giovanni, Yin, Luo, Serafini, Paola, Sylla, Bakary, Zollo, Massimo, Franco, Brunella, Bolino, Alessandra, Seri, Marco, Lanyi, Arpad, Davis, Jack R, Webster, David, Harris, Ann, Lenoir, Gilbert, de St Basile, Genevieve, Jones, Alison, Behloradsky, Bernd H, Achatz, Helene, Murken, Jan, Fassler, Reinhard, Sumegi, Janos, Romeo, Giovanni, Vaudin, Mark, Ross, Mark T, Meindl, Alfons, Bentley, David R
Published in Nature genetics (01.10.1998)
Published in Nature genetics (01.10.1998)
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Missense mutations in the NDP gene in patients with a less severe course of Norrie disease
Meindl, A, Lorenz, B, Achatz, H, Hellebrand, H, Schmitz-Valckenberg, P, Meitinger, T
Published in Human molecular genetics (01.03.1995)
Published in Human molecular genetics (01.03.1995)
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A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa
Meindl, A, Carvalho, M R, Herrmann, K, Lorenz, B, Achatz, H, Apfelstedt-Sylla, E, Wittwer, B, Ross, M, Meitinger, T
Published in Human molecular genetics (01.12.1995)
Published in Human molecular genetics (01.12.1995)
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X-linked ocular albinism (Nettleship-Falls): a novel 29-bp deletion in exon 1. Carrier detection by ophthalmic examination and DNA analysis
RUDOLPH, Günther, MEINDL, Alfons, BECHMANN, Martin, SCHWORM, Hermann-Dieter, ACHATZ, Helene, BOERGEN, Klaus-Peter, KAMPIK, Anselm, BERNINGER, Thomas, MEITINGER, Thomas
Published in Graefe's archive for clinical and experimental ophthalmology (01.03.2001)
Published in Graefe's archive for clinical and experimental ophthalmology (01.03.2001)
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Complete form of X-linked congenital stationary night blindness: refined mapping and evidence of genetic homogeneity
Pusch, C M, Maurer, J, Ramser, J, Tomiuk, J, Achatz, H, Pesch, K, Lichtner, P, Apfelstedt-Sylla, E, Jacobi, F K, Berger, W, Meindl, A, Wissinger, B
Published in International journal of molecular medicine (01.02.2001)
Published in International journal of molecular medicine (01.02.2001)
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UHX1 and PCTK1: precise characterisation and localisation within a gene-rich region in Xp11.23 and evaluation as candidate genes for retinal diseases mapped to Xp21.1-p11.2
Brandau, O, Nyakatura, G, Jedele, K B, Platzer, M, Achatz, H, Ross, M, Murken, J, Rosenthal, A, Meindl, A
Published in European journal of human genetics : EJHG (01.09.1998)
Published in European journal of human genetics : EJHG (01.09.1998)
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Three novel mutations (I506S, S466X, 1651A-->T) in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) detected in patients of southern German descent
Deufel, A, Deufel, T, Golla, A, Achatz, H, Bertele-Harms, R, Roscher, A A, Meitinger, T
Published in Human mutation (1994)
Published in Human mutation (1994)
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