Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia
Zech, Michael, Boesch, Sylvia, Maier, Esther M., Borggraefe, Ingo, Vill, Katharina, Laccone, Franco, Pilshofer, Veronika, Ceballos-Baumann, Andres, Alhaddad, Bader, Berutti, Riccardo, Poewe, Werner, Haack, Tobias B., Haslinger, Bernhard, Strom, Tim M., Winkelmann, Juliane
Published in American journal of human genetics (01.12.2016)
Published in American journal of human genetics (01.12.2016)
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Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations
Smogavec, Mateja, Gerykova Bujalkova, Maria, Lehner, Reinhard, Neesen, Jürgen, Behunova, Jana, Yerlikaya-Schatten, Gülen, Reischer, Theresa, Altmann, Reinhard, Weis, Denisa, Duba, Hans-Christoph, Laccone, Franco
Published in European journal of human genetics : EJHG (01.04.2022)
Published in European journal of human genetics : EJHG (01.04.2022)
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Journal Article
Usefulness of Losartan on the Size of the Ascending Aorta in an Unselected Cohort of Children, Adolescents, and Young Adults With Marfan Syndrome
Pees, Christiane, MD, Laccone, Franco, MD, Hagl, Marion, DeBrauwer, Veerle, MD, Moser, Elisabeth, MD, Michel-Behnke, Ina, PhD
Published in The American journal of cardiology (01.11.2013)
Published in The American journal of cardiology (01.11.2013)
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The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study
Krenn, Martin, Sener, Merve, Rath, Jakob, Zulehner, Gudrun, Keritam, Omar, Wagner, Matias, Laccone, Franco, Iglseder, Stephan, Marte, Sonja, Baumgartner, Manuela, Eisenkölbl, Astrid, Liechtenstein, Christian, Rudnik, Sabine, Quasthoff, Stefan, Grinzinger, Susanne, Spenger, Johannes, Wortmann, Saskia B., Löscher, Wolfgang N., Zimprich, Fritz, Kellersmann, Anna, Rappold, Mika, Bernert, Günther, Freilinger, Michael, Cetin, Hakan
Published in Journal of neurology (01.02.2023)
Published in Journal of neurology (01.02.2023)
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Performance of clinical risk scores and prediction models to identify pathogenic germline variants in patients with advanced prostate cancer
Rebhan, Katharina, Stelzer, Philipp D., Pradere, Benjamin, Rajwa, Pawel, Kramer, Gero, Hofmann, Bernd, Resch, Irene, Yurdakul, Ozan, Laccone, Franco A., Bujalkova, Maria Gerykova, Smogavec, Mateja, Tan, Yen Y., Ristl, Robin, Shariat, Shahrokh F., Egger, Gerda, Hassler, Melanie R.
Published in World journal of urology (01.08.2023)
Published in World journal of urology (01.08.2023)
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Brain malformations in diprosopia observed in clinical cases, museum specimens and artistic representations
Rehder, Helga, Kircher, Susanne G, Schoner, Katharina, Smogavec, Mateja, Behunova, Jana, Ihm, Ulrike, Plassmann, Margit, Hofer, Manuel, Ringl, Helmut, Laccone, Franco
Published in Orphanet journal of rare diseases (16.03.2023)
Published in Orphanet journal of rare diseases (16.03.2023)
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Efficacy and safety of Everolimus in children with TSC - associated epilepsy - Pilot data from an open single-center prospective study
Samueli, Sharon, Abraham, Klaus, Dressler, Anastasia, Gröppel, Gudrun, Mühlebner-Fahrngruber, Angelika, Scholl, Theresa, Kasprian, Gregor, Laccone, Franco, Feucht, Martha
Published in Orphanet journal of rare diseases (03.11.2016)
Published in Orphanet journal of rare diseases (03.11.2016)
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Journal Article
Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case
Pfeifer, Mateja, Rehder, Helga, Gerykova Bujalkova, Maria, Bartsch, Christine, Fritz, Barbara, Knopp, Cordula, Beckers, Björn, Dohle, Frank, Meyer-Wittkopf, Matthias, Axt-Fliedner, Roland, Beribisky, Alexander V, Hofer, Manuel, Laccone, Franco, Schoner, Katharina
Published in Orphanet journal of rare diseases (12.03.2024)
Published in Orphanet journal of rare diseases (12.03.2024)
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Journal Article
Clinical Phenotype and Bone Biopsy Characteristics in a Child with Proteus Syndrome
Al Kaissi, Ali, Misof, Barbara M., Laccone, Franco, Blouin, Stéphane, Roschger, Paul, Kircher, Susanne G., Shboul, Mohammad, Mindler, Gabriel T., Girsch, Werner, Ganger, Rudolf
Published in Calcified tissue international (01.11.2021)
Published in Calcified tissue international (01.11.2021)
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Journal Article
The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review
Colman, Marlies, Van Damme, Tim, Steichen-Gersdorf, Elisabeth, Laccone, Franco, Nampoothiri, Sheela, Syx, Delfien, Guillemyn, Brecht, Symoens, Sofie, Malfait, Fransiska
Published in Orphanet journal of rare diseases (13.06.2019)
Published in Orphanet journal of rare diseases (13.06.2019)
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An electrochemiluminescence based assay for quantitative detection of endogenous and exogenously applied MeCP2 protein variants
Steinkellner, Hannes, Schönegger, Anna, Etzler, Julia, Kempaiah, Prakasha, Huber, Anna, Hahn, Kathrin, Rose, Katrin, Duerr, Mark, Christodoulou, John, Beribisky, Alexander V., Neuhaus, Winfried, Laccone, Franco
Published in Scientific reports (28.05.2019)
Published in Scientific reports (28.05.2019)
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Phenotyping of a novel COL4A4 and novel GLA variant in a patient presenting with microhematuria and mildly impaired kidney function: a case report
Ponleitner, Markus, Allmer, Daniela Maria, Hecking, Manfred, Gatterer, Constantin, Graf, Senta, Smogavec, Mateja, Laccone, Franco, Rommer, Paulus Stefan, Sunder-Plassmann, Gere
Published in Frontiers in genetics (01.06.2023)
Published in Frontiers in genetics (01.06.2023)
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Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease
Tallgren, Antti, Kager, Leo, O'Grady, Gina, Tuominen, Hannu, Körkkö, Jarmo, Kuismin, Outi, Feucht, Martha, Wilson, Callum, Behunova, Jana, England, Eleina, Kurki, Mitja I, Palotie, Aarno, Hallman, Mikko, Kaarteenaho, Riitta, Laccone, Franco, Boztug, Kaan, Hinttala, Reetta, Uusimaa, Johanna
Published in Frontiers in neuroscience (27.04.2023)
Published in Frontiers in neuroscience (27.04.2023)
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Mild Overexpression of Mecp2 in Mice Causes a Higher Susceptibility toward Seizures
Bodda, Chiranjeevi, Tantra, Martesa, Mollajew, Rustam, Arunachalam, Jayamuruga P, Laccone, Franco A, Can, Karolina, Rosenberger, Albert, Mironov, Sergej L, Ehrenreich, Hannelore, Mannan, Ashraf U
Published in The American journal of pathology (01.07.2013)
Published in The American journal of pathology (01.07.2013)
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Journal Article
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia
Khan, Kamal, Zech, Michael, Morgan, Angela T., Amor, David J., Skorvanek, Matej, Khan, Tahir N., Hildebrand, Michael S., Jackson, Victoria E., Scerri, Thomas S., Coleman, Matthew, Rigbye, Kristin A., Scheffer, Ingrid E., Bahlo, Melanie, Wagner, Matias, Lam, Daniel D., Berutti, Riccardo, Havránková, Petra, Fečíková, Anna, Strom, Tim M., Han, Vladimir, Dosekova, Petra, Gdovinova, Zuzana, Laccone, Franco, Jameel, Muhammad, Mooney, Marie R., Baig, Shahid M., Jech, Robert, Davis, Erica E., Katsanis, Nicholas, Winkelmann, Juliane
Published in Genetics in medicine (01.11.2019)
Published in Genetics in medicine (01.11.2019)
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Journal Article
A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation
Parzefall, Thomas, Frohne, Alexandra, Koenighofer, Martin, Neesen, Juergen, Laccone, Franco, Eckl-Dorna, Julia, Waters, Jonathan J., Schreiner, Markus, Amr, Sami Samir, Ashton, Emma, Schoefer, Christian, Gstœttner, Wolfgang, Frei, Klemens, Lucas, Trevor
Published in Frontiers in cellular neuroscience (12.11.2020)
Published in Frontiers in cellular neuroscience (12.11.2020)
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Increasing live birth rate by preimplantation genetic screening of pooled polar bodies using array comparative genomic hybridization
Feichtinger, Michael, Stopp, Tina, Göbl, Christian, Feichtinger, Elisabeth, Vaccari, Enrico, Mädel, Ulrike, Laccone, Franco, Stroh-Weigert, Monika, Hengstschläger, Markus, Feichtinger, Wilfried, Neesen, Jürgen
Published in PloS one (29.05.2015)
Published in PloS one (29.05.2015)
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Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic
Schiessl-Weyer, Jasmin, Roa, Pedro, Laccone, Franco, Kluge, Britta, Tichy, Alexander, De Almeida Ribeiro, Euripedes, Prohaska, Rainer, Stoeter, Peter, Siegl, Claudia, Salzer, Ulrich
Published in PloS one (27.04.2015)
Published in PloS one (27.04.2015)
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