Search Results - "Huffmeier, Ulrike"

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures by Zweier, Markus, Begemann, Anaïs, McWalter, Kirsty, Cho, Megan T, Abela, Lucia, Banka, Siddharth, Behring, Bettina, Berger, Andrea, Brown, Chester W, Carneiro, Maryline, Chen, Jiani, Cooper, Gregory M, Finnila, Candice R, Guillen Sacoto, Maria J, Henderson, Alex, Hüffmeier, Ulrike, Joset, Pascal, Kerr, Bronwyn, Lesca, Gaetan, Leszinski, Gloria S, McDermott, John Henry, Meltzer, Meira R, Monaghan, Kristin G, Mostafavi, Roya, Õunap, Katrin, Plecko, Barbara, Powis, Zöe, Purcarin, Gabriela, Reimand, Tiia, Riedhammer, Korbinian M, Schreiber, John M, Sirsi, Deepa, Wierenga, Klaas J, Wojcik, Monica H, Papuc, Sorina M, Steindl, Katharina, Sticht, Heinrich, Rauch, Anita

“…CYFIP2, encoding the evolutionary highly conserved cytoplasmic FMRP interacting protein 2, has previously been proposed as a candidate gene for intellectual…”
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Genetic variants in FBLIM1 gene do not contribute to SAPHO syndrome and chronic recurrent multifocal osteomyelitis in typical patient groups by Assmann, Gunter, Köhm, Michaela, Schuster, Volker, Behrens, Frank, Mössner, Rotraut, Magnolo, Nina, Oji, Vinzenz, Burkhardt, Harald, Hüffmeier, Ulrike

“…Syndrome of synovitis acne pustulosis hyperostosis osteitis (SAPHO) and chronic recurrent multifocal osteomyelitis (CRMO) present two diseases of a…”
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Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice by Jønch, Aia Elise, Douard, Elise, Moreau, Clara, Van Dijck, Anke, Passeggeri, Marzia, Kooy, Frank, Puechberty, Jacques, Campbell, Carolyn, Sanlaville, Damien, Lefroy, Henrietta, Richetin, Sonia, Pain, Aurelie, Geneviève, David, Kini, Usha, Le Caignec, Cédric, Lespinasse, James, Skytte, Anne-Bine, Isidor, Bertrand, Zweier, Christiane, Caberg, Jean-Hubert, Delrue, Marie-Ange, Møller, Rikke Steensbjerre, Bojesen, Anders, Hjalgrim, Helle, Brasch-Andersen, Charlotte, Lemyre, Emmanuelle, Ousager, Lilian Bomme, Jacquemont, Sébastien

“…The 15q11.2 deletion is frequently identified in the neurodevelopmental clinic. Case-control studies have associated the 15q11.2 deletion with…”
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Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene by Capon, Francesca, Bijlmakers, Marie-José, Wolf, Natalie, Quaranta, Maria, Huffmeier, Ulrike, Allen, Michael, Timms, Kirsten, Abkevich, Victor, Gutin, Alexander, Smith, Rhodri, Warren, Richard B., Young, Helen S., Worthington, Jane, Burden, A. David, Griffiths, Christopher E.M., Hayday, Adrian, Nestle, Frank O., Reis, Andre, Lanchbury, Jerry, Barker, Jonathan N., Trembath, Richard C.

“…Psoriasis is an immune-mediated skin disorder that is inherited as a multifactorial trait. Linkage studies have clearly identified a primary disease…”
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Tumor necrosis factor promoter polymorphism TNF‐857 is a risk allele for psoriatic arthritis independent of the PSORS1 locus by Giardina, Emiliano, Hüffmeier, Ulrike, Ravindran, Jaya, Behrens, Frank, Lepre, Tiziana, McHugh, Neil J., Korendowych, Eleanor, Burkhardt, Harald, Novelli, Giuseppe, Reis, André

“…Objective The strongest susceptibility locus of psoriatic arthritis (PsA) is within the major histocompatibility complex (MHC) region (psoriasis susceptibility…”
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Genotyping Microarray for CSNB-Associated Genes by Zeitz, Christina, Labs, Stephan, Lorenz, Birgit, Forster, Ursula, Uksti, Janne, Kroes, Hester Y, De Baere, Elfride, Leroy, Bart P, Cremers, Frans P. M, Wittmer, Mariana, van Genderen, Maria M, Sahel, Jose-Alain, Audo, Isabelle, Poloschek, Charlotte M, Mohand-Said, Saddek, Fleischhauer, Johannes C, Huffmeier, Ulrike, Moskova-Doumanova, Veselina, Levin, Alex V, Hamel, Christian P, Leifert, Dorothee, Munier, Francis L, Schorderet, Daniel F, Zrenner, Eberhart, Friedburg, Christoph, Wissinger, Bernd, Kohl, Susanne, Berger, Wolfgang

“…Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous retinal disease. Although electroretinographic (ERG) measurements…”
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Genome-wide association and targeted analysis of copy number variants with psoriatic arthritis in German patients by Uebe, Steffen, Ehrlicher, Maria, Ekici, Arif Bülent, Behrens, Frank, Böhm, Beate, Homuth, Georg, Schurmann, Claudia, Völker, Uwe, Jünger, Michael, Nauck, Matthias, Völzke, Henry, Traupe, Heiko, Krawczak, Michael, Burkhardt, Harald, Reis, André, Hüffmeier, Ulrike

“…Psoriatic Arthritis (PsA) is a chronic inflammatory disease of the joints. PsA is etiologically complex, and 11 susceptibility loci have been identified so…”
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Deletion of LCE3C and LCE3B genes at PSORS4 does not contribute to susceptibility to psoriatic arthritis in German patients by Hüffmeier, Ulrike, Estivill, Xavier, Riveira-Munoz, Eva, Traupe, Heiko, Wendler, Jörg, Lohmann, Jörg, Böhm, Beate, Burkhardt, Harald, Reis, André

“…Psoriasis susceptibility locus 4 (PSORS4) is a susceptibility locus for psoriasis vulgaris (PsV), a common inflammatory, hyperproliferative skin disorder…”
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Deletion of LCE3C and LCE3B is a susceptibility factor for psoriatic arthritis: A study in Spanish and Italian populations and meta‐analysis by Docampo, Elisa, Giardina, Emiliano, Riveira‐Muñoz, Eva, de Cid, Rafael, Escaramís, Georgia, Perricone, Carlo, Fernández‐Sueiro, José L., Maymó, Joan, González‐Gay, Miguel A., Blanco, Francisco J., Hüffmeier, Ulrike, Lisbona, M. Pilar, Martín, Javier, Carracedo, Ángel, Reis, André, Rabionet, Raquel, Novelli, Giuseppe, Estivill, Xavier

“…Objective The LCE3C_LCE3B‐del variant is associated with psoriasis and rheumatoid arthritis. Its role in psoriatic arthritis (PsA) is unclear, however, as…”
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New Mutations of EXT1 and EXT2 Genes in German Patients with Multiple Osteochondromas by Heinritz, Wolfram, Hüffmeier, Ulrike, Strenge, Sibylle, Miterski, Bianca, Zweier, Christiane, Leinung, Steffen, Bohring, Axel, Mitulla, Beate, Peters, Usha, Froster, Ursula G.

“…Summary Mutations in either the EXT1 or EXT2 genes lead to Multiple Osteochondromas (MO), an autosomal dominantly inherited disorder. This is a report on…”
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Cytokine balance in infants undergoing cardiac operation by Hövels-Gürich, Hedwig H., Schumacher, Kathrin, Vazquez-Jimenez, Jaime F., Qing, Ma, Hüffmeier, Ulrike, Buding, Brigitte, Messmer, Bruno J., von Bernuth, Götz, Seghaye, Marie-Christine

“…Background. The control of the systemic inflammatory response taking place during cardiac operations depends on adequate antiinflammatory reaction. In this…”
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Rare Loss-of-Function Mutation in SERPINA3 in Generalized Pustular Psoriasis by Frey, Silke, Sticht, Heinrich, Wilsmann-Theis, Dagmar, Gerschütz, Anne, Wolf, Katharina, Löhr, Sabine, Haskamp, Stefan, Frey, Benjamin, Hahn, Madelaine, Ekici, Arif B., Uebe, Steffen, Thiel, Christian, Reis, André, Burkhardt, Harald, Behrens, Frank, Köhm, Michaela, Rech, Jürgen, Schett, Georg, Assmann, Gunter, Kingo, Külli, Kõks, Sulev, Mössner, Rotraut, Prinz, Jörg C., Oji, Vinzenz, Schulz, Peter, Muñoz, Luis E., Kremer, Andreas E., Wenzel, Jörg, Hüffmeier, Ulrike

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The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy by Hebebrand, Moritz, Hüffmeier, Ulrike, Trollmann, Regina, Hehr, Ute, Uebe, Steffen, Ekici, Arif B, Kraus, Cornelia, Krumbiegel, Mandy, Reis, André, Thiel, Christian T, Popp, Bernt

“…The TUBA1A-associated tubulinopathy is clinically heterogeneous with brain malformations, microcephaly, developmental delay and epilepsy being the main…”
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EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum by Hüffmeier, Ulrike, Kraus, Cornelia, Reuter, Miriam S, Uebe, Steffen, Abbott, Mary-Alice, Ahmed, Syed A, Rawson, Kristyn L, Barr, Eileen, Li, Hong, Bruel, Ange-Line, Faivre, Laurence, Tran Mau-Them, Frédéric, Botti, Christina, Brooks, Susan, Burns, Kaitlyn, Ward, D Isum, Dutra-Clarke, Marina, Martinez-Agosto, Julian A, Lee, Hane, Nelson, Stanley F, Zacher, Pia, Abou Jamra, Rami, Klöckner, Chiara, McGaughran, Julie, Kohlhase, Jürgen, Schuhmann, Sarah, Moran, Ellen, Pappas, John, Raas-Rothschild, Annick, Sacoto, Maria J Guillen, Henderson, Lindsay B, Palculict, Timothy Blake, Mullegama, Sureni V, Zghal Elloumi, Houda, Reich, Adi, Schrier Vergano, Samantha A, Wahl, Erica, Reis, André, Zweier, Christiane

“…An identical homozygous missense variant in EIF3F, identified through a large-scale genome-wide sequencing approach, was reported as causative in nine…”
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VEXAS-Syndrom, eine neu beschriebene autoinflammatorische Systemerkrankung mit dermatologischen Manifestationen by Baur, Vera, Stoevesandt, Johanna, Hueber, Axel, Hüffmeier, Ulrike, Kneitz, Hermann, Morbach, Henner, Schultz, Erwin, Goebeler, Matthias

“…ZusammenfassungDas VEXAS‐Syndrom ist eine kürzlich erstbeschriebene autoinflammatorische Systemerkrankung, die auf einer erworbenen, somatischen Mutation des…”
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Loss-of-Function Myeloperoxidase Mutations Are Associated with Increased Neutrophil Counts and Pustular Skin Disease by Vergnano, Marta, Mockenhaupt, Maja, Benzian-Olsson, Natashia, Paulmann, Maren, Grys, Katarzyna, Mahil, Satveer K., Chaloner, Charlotte, Barbosa, Ines A., August, Suzannah, Burden, A. David, Choon, Siew-Eng, Cooper, Hywel, Navarini, Alex A., Reynolds, Nick J., Wahie, Shyamal, Warren, Richard B., Wright, Andrew, Abraham, Thamir, Ali, Mahmud, August, Suzannah, Baudry, David, Bewley, Anthony, Cooper, Hywel, Griffiths, Christopher E.M., Ingram, John, Kelly, Susan, Korshid, Mohsen, Ladoyanni, Effie, McKenna, John, Meynell, Freya, Parslew, Richard, Patel, Prakash, Pushparajah, Angela, Reynolds, Nick, Smith, Catherine, Wahie, Shyamal, Warren, Richard, Wright, Andrew, Huffmeier, Ulrike, Baum, Patrick, Visvanathan, Sudha, Barker, Jonathan N., Smith, Catherine H., Capon, Francesca

“…The identification of disease alleles underlying human autoinflammatory diseases can provide important insights into the mechanisms that maintain neutrophil…”
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Dense genotyping of immune-related susceptibility loci reveals new insights into the genetics of psoriatic arthritis by Bowes, John, Budu-Aggrey, Ashley, Huffmeier, Ulrike, Uebe, Steffen, Steel, Kathryn, Hebert, Harry L., Wallace, Chris, Massey, Jonathan, Bruce, Ian N., Bluett, James, Feletar, Marie, Morgan, Ann W., Marzo-Ortega, Helena, Donohoe, Gary, Morris, Derek W., Helliwell, Philip, Ryan, Anthony W., Kane, David, Warren, Richard B., Korendowych, Eleanor, Alenius, Gerd-Marie, Giardina, Emiliano, Packham, Jonathan, McManus, Ross, FitzGerald, Oliver, McHugh, Neil, Brown, Matthew A., Ho, Pauline, Behrens, Frank, Burkhardt, Harald, Reis, Andre, Barton, Anne

“…Psoriatic arthritis (PsA) is a chronic inflammatory arthritis associated with psoriasis and, despite the larger estimated heritability for PsA, the majority of…”
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A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene by Hüffmeier, Ulrike, Zenker, Martin, Hoyer, Juliane, Fahsold, Raimund, Rauch, Anita

“…Signs of neurofibromatosis type 1 (NF1) and Noonan syndrome (NS), two distinct autosomal dominant disorders, occur together in patients reported as Watson…”
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Psoriasis is associated with increased β-defensin genomic copy number by Zeeuwen, Patrick L J M, Hollox, Edward J, Rodijk-Olthuis, Diana, van de Kerkhof, Peter C M, Schalkwijk, Joost, Huffmeier, Ulrike, de Jongh, Gys, Heijer, Martin den, Armour, John A L, Traupe, Heiko, Palla, Raquel, Lascorz, Jesús, Reis, André

“…Psoriasis is a common inflammatory skin disease with a strong genetic component. We analyzed the genomic copy number polymorphism of the β-defensin region on…”
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PTPN22 is associated with susceptibility to psoriatic arthritis but not psoriasis: evidence for a further PsA-specific risk locus by Bowes, John, Loehr, Sabine, Budu-Aggrey, Ashley, Uebe, Steffen, Bruce, Ian N, Feletar, Marie, Marzo-Ortega, Helena, Helliwell, Philip, Ryan, Anthony W, Kane, David, Korendowych, Eleanor, Alenius, Gerd-Marie, Giardina, Emiliano, Packham, Jonathan, McManus, Ross, FitzGerald, Oliver, Brown, Matthew A, Behrens, Frank, Burkhardt, Harald, McHugh, Neil, Huffmeier, Ulrike, Ho, Pauline, Reis, Andre, Barton, Anne

“…Psoriatic arthritis (PsA) is a chronic inflammatory arthritis associated with psoriasis; it has a higher estimated genetic component than psoriasis alone,…”
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