Search Results - "MURKEN, JAN"

Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene by 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

“…X-linked lymphoproliferative syndrome (XLP or Duncan disease) is characterized by extreme sensitivity to Epstein-Barr virus (EBV), resulting in a complex…”
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Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2) by Schuffenhauer, S, Lichtner, P, Peykar-Derakhshandeh, P, Murken, J, Haas, O A, Back, E, Wolff, G, Zabel, B, Barisic, I, Rauch, A, Borochowitz, Z, Dallapiccola, B, Ross, M, Meitinger, T

“…DiGeorge syndrome (DGS) is a developmental field defect, characterised by absent/hypoplastic thymus and parathyroid, and conotruncal heart defects, with…”
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An excess of chromosome 1 breakpoints in male infertility by BACHE, Ihen, VAN ASSCHE, Elvire, KALSCHEUER, Vera, LIEBAERS, Inge, BONDUELLE, Maryse, TOURNAYE, Herman, AYUSO, Carmen, BARBI, Gotthold, BLENNOW, Elisabeth, BOURROUILLOU, Georges, BRONDUM-NIELSEN, Karen, BRUUN-PETERSEN, Gert, CINGOZ, Sultan, CROQUETTE, Marie-Francoise, DAHOUN, Sophie, DALLAPICCOLA, Bruno, DAVISON, Val, DELOBEL, Bruno, DUBA, Hans-Christoph, DUPREZ, Laurence, FERGUSON-SMITH, Malcolm, FITZPATRICK, David R, GRACE, Elizabeth, BUGGE, Merete, HANSMANN, Ingo, HULTEN, Maj, JENSEN, Peter Ka, JONVEAUX, Philippe, KRISTOFFERSSON, Ulf, LOPEZ-PAJARES, Isidora, MCGOWAN-JORDAN, Jean, MURKEN, Jan, ORERA, Maria, PARKIN, Tony, TÜMER, Zeynep, PASSARGE, Eberhard, RAMOS, Carmen, RASMUSSEN, Kirsten, SCHEMPP, Werner, SCHUBERT, Regine, SCHWINGER, Eberhard, SHABTAI, Fiorella, SMITH, Kim, STALLINGS, Raymond, STEFANOVA, Margarita, HJORTH, Mads, TRANEBJERG, Lisbeth, TURLEAU, Catherine, BIRGER VAN DER HAGEN, Carl, VEKEMANS, Michel, KOKALJ VOKAC, Nadja, WAGNER, Klaus, WAHLSTROEM, Jan, ZELANTE, Leopoldo, TOMMERUP, Niels, LUNDSTEEN, Claes, LESPINASSE, James, WINTHER, Kirsten, NIEBUHR, Anita

“…In a search for potential infertility loci, which might be revealed by clustering of chromosomal breakpoints, we compiled 464 infertile males with a balanced…”
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Multiplex-FISH for Pre- and Postnatal Diagnostic Applications by Uhrig, Sabine, Schuffenhauer, Simone, Fauth, Christine, Wirtz, Antje, Daumer-Haas, Cornelia, Apacik, Can, Cohen, Monika, Müller-Navia, Jutta, Cremer, Thomas, Murken, Jan, Speicher, Michael R.

“…For >3 decades, Giemsa banding of metaphase chromosomes has been the standard karyotypic analysis for pre- and postnatal diagnostic applications. However,…”
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Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure by Meitinger, Thomas, Meindl, Alfons, Bork, Peer, Rost, Burkhart, Sander, Chris, Haasemann, Martina, Murken, Jan

“…The X-lined gene for Norrie disease, which is characterized by blindness, deafness and mental retardation has been cloned recently. This gene has been thought…”
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Acrom fluorescent in situ hybridization analyses of marker chromosomes by LANGER, Sabine, FAUTH, Christine, ROCCHI, Mariano, MURKEN, Jan, SPEICHER, Michael R

“…The presence of a de novo supernumerary marker chromosome (SMC) poses problems in genetic counseling. The consequences of the additional chromosomal material…”
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Interstitial deletion 5p accompanied by dicentric ring formation of the deleted segment resulting in trisomy 5p13-cen by Schuffenhauer, Simone, Kobelt, Albrecht, Daumer-Haas, Cornelia, Löffler, Christine, Müller, Gisela, Murken, Jan, Meitinger, Thomas

“…Karyotypes with an interstitial deletion and a marker chromosome formed from the deleted segment are rare. We identified such a rearrangement in a newborn…”
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De novo deletion (14)(q11.2q13) including PAX9: clinical and molecular findings by Schuffenhauer, Simone, Leifheit, Hans-Jürgen, Lichtner, Peter, Peters, Heiko, Murken, Jan, Emmerich, P

“…A 3 year old boy with a de novo deletion (14)(q11.2q13) of paternal origin encompassing the region from D14S264 to D14S70 is described. The patient presented…”
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Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family by Golla, A, Lichmer, P, von Gernet, S, Winterpacht, A, Fairley, J, Murken, J, Schuffenhauer, S

“…The craniosynostosis syndromes are a heterogeneous group of sporadic, autosomal dominant disorders with significant clinical overlap. Recently, we described a…”
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Determining Feulgen-DNA of individual chromosomes by fluorescence cytophotometry with incident light by Nitsch, B, Murken, J D, Brück, H J

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Beobachtung eines Faktorenaustausches zwischen den Blutgruppen-Genorten MN und Ss by Scholz, Walter, Murken, Jan-Dieter

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Mosaicism for a dup(12)(q22q13) in a patient with hypomelanosis of Ito and asymmetry by SCHMIDT, HEINRICH, UHRIG, SABINE, LEDERER, GABY, MURKEN, JAN, SPEICHER, MICHAEL R, SCHUFFENHAUER, SIMONE

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Ethische Probleme im Kontext genetischer Beratung und Diagnostik by Murken, Jan

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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 by Brandau, O, Nyakatura, G, Jedele, K B, Platzer, M, Achatz, H, Ross, M, Murken, J, Rosenthal, A, Meindl, A

“…The gene for ubiquitin hydrolase on the X chromosome (UHX1), cloned and mapped to Xp21.2-p11.2, is a candidate gene for retinal diseases. We used fine mapping…”
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Spinal and bulbar muscular atrophy (SBMA): Somatic stability of an expanded CAG repeat in fetal tissues by Jedele, Kerry Baldwin, Wahl, Dagmar, Chahrokh-Zadeh, Soheyla, Wirtz, Antje, Murken, Jan, Holinski-Feder, Elke

“…Spinal and bulbar muscular atrophy (SBMA) is a rare X‐linked motor neuron degenerative disease caused by an expanded trinucleotide repeat. Unlike most other…”
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De novo interstitial deletion 16(q12.1q13) of paternal origin in a 10-year-old boy by Schuffenhauer, S, Callen, D F, Seidel, H, Shen, Y, Lederer, G, Murken, J

“…A 10-year-old boy with a de novo del(16)(q12.1q13) and many features of the deletion 16q phenotype is described. The deletion occurred in a paternal chromosome…”
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Linkage of X-linked retinitis pigmentosa to the hypervariable DNA marker M27? (DXS255) by Meitinger, Thomas, Fraser, NeilA, Lorenz, Birgit, Zrenner, Eberhart, Murken, Jan, Craig, IanW

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Linkage of X-linked retinitis pigmentosa to the hypervariable DNA marker M27β (DXS255) by MEITINGER, T, FRASER, N. A, LORENZ, B, ZRENNER, E, MURKEN, J, CRAIG, I. W

“…A hypervariable DNA marker is closely linked to one of the most severe forms of night blindness, X-linked retinitis pigmentosa (RP). Affected individuals with…”
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MRX42: Two linkage intervals, one in the pericentromeric region and one in Xq26, and the impact for carrier risk estimation by Golla, Astrid, Rost, Imma, Jedele, Kerry Baldwin, Albert, Angelika, Murken, Jan, Holinski-Feder, Elke

“…A nonspecific X‐linked mental retardation (MRX) family is reported with four mild to moderately affected males and no intellectual impairment in their obligate…”
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No evidence for chromosomal microdeletions at the second DiGeorge syndrome locus on 10p near D10S585 by Bartsch, Oliver, Wagner, Annett, Hinkel, Georg Klaus, Lichtner, Peter, Murken, Jan, Schuffenhauer, Simone

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