Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome

Por Khan, Muzammil Ahmad, Mohan, Sumitra, Zubair, Muhammad, Windpassinger, Christian
Publicado no BMC Med Genet (2016)

General Movements in genetic disorders: a first look into Cornelia de Lange syndrome

Por Marschik, Peter B, Soloveichick, Marina, Windpassinger, Christian, Einspieler, Christa
Publicado no Dev Neurorehabil (2013)

Surfactant Protein B Deficiency Caused by Homozygous C248X Mutation—A Case Report and Review of the Literature

Por Kurath-Koller, Stefan, Resch, Bernhard, Kraschl, Raimund, Windpassinger, Christian, Eber, Ernst
Publicado no AJP Rep (2015)

Histone deacetylase inhibitors vorinostat and panobinostat induce G1 cell cycle arrest and apoptosis in multidrug resistant sarcoma cell lines

Por Bernhart, Eva, Stuendl, Nicole, Kaltenegger, Heike, Windpassinger, Christian, Donohue, Nicholas, Leithner, Andreas, Lohberger, Birgit
Publicado no Oncotarget (2017)

Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family

Por Ali, Muhammad Z., Blatterer, Jasmin, Khan, Muzammil A., Schaflinger, Erich, Petek, Erwin, Ahmad, Safeer, Khan, Ejazullah, Windpassinger, Christian
Publicado no Mol Genet Genomic Med (2020)

Disruption of a Novel Gene (IMMP2L) by a Breakpoint in 7q31 Associated with Tourette Syndrome

Por Petek, Erwin, Windpassinger, Christian, Vincent, John B., Cheung, Joseph, Boright, Andrew P., Scherer, Stephen W., Kroisel, Peter M., Wagner, Klaus
Publicado em 2001

Oligodontia Is Caused by Mutation in LTBP3, the Gene Encoding Latent TGF-β Binding Protein 3

Por Noor, Abdul, Windpassinger, Christian, Vitcu, Irina, Orlic, Marija, Arshad Rafiq, Muhammad, Khalid, Mahwish, Nasir Malik, Mahmood, Ayub, Muhammad, Alman, Benjamin, Vincent, John B.
Publicado em 2009

Three different profiles: Early socio-communicative capacities in typical Rett syndrome, the preserved speech variant and normal development

Por Marschik, Peter B, Bartl-Pokorny, Katrin D, Tager-Flusberg, Helen, Kaufmann, Walter E, Pokorny, Florian, Grossmann, Tobias, Windpassinger, Christian, Petek, Erwin, Einspieler, Christa
Publicado no Dev Neurorehabil (2013)

Four and a Half LIM Protein 1C (FHL1C): A Binding Partner for Voltage-Gated Potassium Channel K(v1.5)

Por Poparic, Ivana, Schreibmayer, Wolfgang, Schoser, Benedikt, Desoye, Gernot, Gorischek, Astrid, Miedl, Heidi, Hochmeister, Sonja, Binder, Josepha, Quasthoff, Stefan, Wagner, Klaus, Windpassinger, Christian, Malle, Ernst
Publicado em 2011

Exome sequence analysis in consanguineous Pakistani families inheriting Bardet‐Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene

Por Muzammal, Muhammad, Zubair, Muhammad, Bierbaumer, Sophie, Blatterer, Jasmin, Graf, Ricarda, Gul, Aisha, Abbas, Safdar, Badar, Muhammad, Abbasi, Ansar Ahmad, Khan, Muzammil Ahmad, Windpassinger, Christian
Publicado no Mol Genet Genomic Med (2019)

CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal-Recessive Mental Retardation with Retinitis Pigmentosa

Por Noor, Abdul, Windpassinger, Christian, Patel, Megha, Stachowiak, Beata, Mikhailov, Anna, Azam, Matloob, Irfan, Muhammad, Paterson, Andrew D., Lutufullah, Muhammad, Doherty, Dan, Vincent, John B., Ayub, Muhammad
Publicado em 2008

Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene

Por Sarkozy, Anna, Windpassinger, Christian, Hudson, Judith, Dougan, Charlotte F, Lecky, Bryan, Hilton-Jones, David, Eagle, Michelle, Charlton, Richard, Barresi, Rita, Lochmüller, Hanns, Bushby, Kate, Straub, Volker
Publicado em 2011

Piezo1 forms mechanosensitive ion channels in the human MCF-7 breast cancer cell line

Por Li, Chouyang, Rezania, Simin, Kammerer, Sarah, Sokolowski, Armin, Devaney, Trevor, Gorischek, Astrid, Jahn, Stephan, Hackl, Hubert, Groschner, Klaus, Windpassinger, Christian, Malle, Ernst, Bauernhofer, Thomas, Schreibmayer, Wolfgang
Publicado no Sci Rep (2015)

Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency

Por Seidel, Markus G., Hirschmugl, Tatjana, Gamez-Diaz, Laura, Schwinger, Wolfgang, Serwas, Nina, Deutschmann, Andrea, Gorkiewicz, Gregor, Zenz, Werner, Windpassinger, Christian, Grimbacher, Bodo, Urban, Christian, Boztug, Kaan
Publicado no J Allergy Clin Immunol (2015)

Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder with Skeletal Muscle Hypertrophy and Premature Cardiac Death

Por Xue, Yuan, Schoser, Benedikt, Rao, Aliz R., Quadrelli, Roberto, Vaglio, Alicia, Rupp, Verena, Beichler, Christine, Nelson, Stanley F., Schapacher-Tilp, Gudrun, Windpassinger, Christian, Wilcox, William R.
Publicado no Circ Cardiovasc Genet (2016)

Characterization of rat serum amyloid A4 (SAA4): A novel member of the SAA superfamily

Por Rossmann, Christine, Windpassinger, Christian, Brunner, Daniela, Kovacevic, Alenka, Schweighofer, Natascha, Malli, Roland, Schuligoi, Rufina, Prokesch, Andreas, Kluve-Beckerman, Barbara, Graier, Wolfgang F., Kratky, Dagmar, Sattler, Wolfgang, Malle, Ernst
Publicado em 2014

CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal-Recessive Mental Retardation with Retinitis Pigmentosa

Por Noor, Abdul, Windpassinger, Christian, Patel, Megha, Stachowiak, Beata, Mikhailov, Anna, Azam, Matloob, Irfan, Muhammad, Siddiqui, Zahid Kamal, Naeem, Farooq, Paterson, Andrew D., Lutfullah, Muhammad, Vincent, John B., Ayub, Muhammad
Publicado em 2008

An X-Linked Myopathy with Postural Muscle Atrophy and Generalized Hypertrophy, Termed XMPMA, Is Caused by Mutations in FHL1

Por Windpassinger, Christian, Schoser, Benedikt, Straub, Volker, Hochmeister, Sonja, Noor, Abdul, Lohberger, Birgit, Farra, Natalie, Petek, Erwin, Schwarzbraun, Thomas, Ofner, Lisa, Löscher, Wolfgang N., Wagner, Klaus, Lochmüller, Hanns, Vincent, John B., Quasthoff, Stefan
Publicado em 2008

Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations

Por Miltenberger-Miltenyi, Gabriel, Schwarzbraun, Thomas, Löscher, Wolfgang N, Wanschitz, Julia, Windpassinger, Christian, Duba, Hans-Christoph, Seidl, Rainer, Albrecht, Gerhard, Weirich-Schwaiger, Helga, Zoller, Heinz, Utermann, Gerd, Auer-Grumbach, Michaela, Janecke, Andreas R
Publicado em 2009

How frequent is osteogenesis imperfecta in patients with idiopathic osteoporosis?: Case reports

Por Al Kaissi, Ali, Windpassinger, Christian, Chehida, Farid Ben, Ghachem, Maher Ben, Nassib, Nabil M., Kenis, Vladimir, Melchenko, Eugene, Morenko, Ekatrina, Ryabykh, Sergey, Hofstaetter, Jochen G., Grill, Franz, Ganger, Rudolf, Kircher, Susanne Gerit
Publicado no Medicine (Baltimore) (2017)