Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Antonia Flaquer"'
Autor:
Sebastian Paus, Mohammad-Reza Toliat, Michael Linnebank, Christian Kubisch, Alfredo Ramirez, Christine Klein, Ullrich Wüllner, Vladimir S. Kostic, Peter Nürnberg, Aleksandar Rakovic, Jan Freudenberg, Antonia Flaquer, Barbara Stiller, Ana Djarmati, Katja Lohmann
Publikováno v:
Movement Disorders. 24:429-433
A role of ATP13A2 in early-onset Parkinsonism (EOP) has been proposed. Conversely, the contribution of this ATPase to late-onset Parkinson's disease (PD) remains unexplored. We therefore conducted a case-control association study in this age-of-onset
Autor:
Christian Becker, Dafydd Stephens, Minna Manninen, Elina Mäki-Torkko, Markus Pfister, Thomas F. Wienker, Peter Nürnberg, Antonia Flaquer, Samuli Hannula, Hannie Kremer, Angeles Espeso, Guy Van Camp, Paul Van de Heyning, Ilmari Pyykkö, Sylvia J. W. Kunst, Jeroen R. Huyghe, Amanda Bonaconsa, Agnete Parving, Eva Orzan, Vedat Topsakal, Kelly Demeester, Manuela Baur, Manuela Mazzoli, Mona Jensen, Cor W. R. J. Cremers, Lut Van Laer, Michael Bille, Martti Sorri, Els Van Eyken, Jan Hendrickx, Erik Fransen
Publikováno v:
American Journal of Human Genetics, 83, 3, pp. 401-7
American Journal of Human Genetics, 83, 401-7
The American journal of human genetics
American Journal of Human Genetics, 83, 401-7
The American journal of human genetics
Contains fulltext : 70189.pdf (Publisher’s version ) (Closed access) Age-related hearing impairment (ARHI), or presbycusis, is a very common multifactorial disorder. Despite the knowledge that genetics play an important role in the etiology of huma
Autor:
Sven Cichon, Tim Becker, Regina C. Betz, Uwe Heyn, Thomas Ruzicka, Bettina Blaumeiser, Sandra Hanneken, Hans Christian Hennies, Jan Freudenberg, Nadine Schweiger, Markus M. Nöthen, Thomas F. Wienker, Rami Abou Jamra, S. Ritzmann, Johannes Schumacher, Felix F. Brockschmidt, Antonia Flaquer, Jochen Hampe, Axel M. Hillmer, Yun Freudenberg-Hua, Thomas G. Schulze, Stefan Schreiber, Roland Kruse, Peter Propping, Christine Metzen
Publikováno v:
The American journal of human genetics
Androgenetic alopecia (AGA), or male-pattern baldness, is the most common form of hair loss. Its pathogenesis is androgen dependent, and genetic predisposition is the major requirement for the phenotype. We demonstrate that genetic variability in the
Autor:
Joseph H. Lee, T. Kawarai, P. St. George-Hyslop, James A. Knowles, Raphael Lantigua, Vincent Santana, Jennifer Williamson, Martin Medrano, B. Tycko, Ekaterina Rogaeva, Antonia Flaquer, A Toulina, David Mayo, J Mo, Alejandra Ciappa, Haydee Z. Rondon, Yaakov Stern, Richard Mayeux, Pedro Estevez, Mayobanex Torres
Publikováno v:
Molecular Psychiatry. 9:1042-1051
Familial Alzheimer's disease (AD [MIM 104300]) has been a focus of intense investigation, primarily in Caucasian families from Europe and North America families. Although the late-onset form of familial AD, beginning after age 65 years, has been link
Autor:
Tim Becker, Sandra Hanneken, Axel M. Hillmer, Max P. Baur, Markus M. Nöthen, Peter Propping, Anne-Katrin Kortüm, Regina C. Betz, Margrieta A. Alblas, Nicholas G. Martin, Zhen Zhen Zhao, Stefan Herms, Martina Bröcker-Preuss, Felix F. Brockschmidt, Karl-Heinz Jöckel, Susanne Moebus, Raimund Erbel, Sven Cichon, Thomas F. Wienker, Thomas W. Mühleisen, Dale R. Nyholt, Antonia Flaquer, Michael Steffens, Roland Kruse, Roman Reinartz, Sibylle Eigelshoven, Grant W. Montgomery
Publikováno v:
Nature Genetics. 40:1279-1281
We carried out a genome-wide association study in 296 individuals with male-pattern baldness (androgenetic alopecia) and 347 controls. We then investigated the 30 best SNPs in an independent replication sample and found highly significant association
Autor:
Marina Silva, Gonzalo Oteo-García, Rui Martiniano, João Guimarães, Matthew von Tersch, Ali Madour, Tarek Shoeib, Alessandro Fichera, Pierre Justeau, M. George B. Foody, Krista McGrath, Amparo Barrachina, Vicente Palomar, Katharina Dulias, Bobby Yau, Francesca Gandini, Douglas J. Clarke, Alexandra Rosa, António Brehm, Antònia Flaquer, Teresa Rito, Anna Olivieri, Alessandro Achilli, Antonio Torroni, Alberto Gómez-Carballa, Antonio Salas, Jaroslaw Bryk, Peter W. Ditchfield, Michelle Alexander, Maria Pala, Pedro A. Soares, Ceiridwen J. Edwards, Martin B. Richards
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
Abstract Historical records document medieval immigration from North Africa to Iberia to create Islamic al-Andalus. Here, we present a low-coverage genome of an eleventh century CE man buried in an Islamic necropolis in Segorbe, near Valencia, Spain.
Externí odkaz:
https://doaj.org/article/4e4b92202999456fac8ec1ea96bd75dd
Autor:
Josep Pol-Fuster, Francesca Cañellas, Laura Ruiz-Guerra, Aina Medina-Dols, Bàrbara Bisbal-Carrió, Bernat Ortega-Vila, Jaume Llinàs, Jessica Hernandez-Rodriguez, Jerònia Lladó, Gabriel Olmos, Konstantin Strauch, Damià Heine-Suñer, Cristòfol Vives-Bauzà, Antònia Flaquer
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-16 (2021)
Abstract We investigated the genetic causes of major mental disorders (MMDs) including schizophrenia, bipolar disorder I, major depressive disorder and attention deficit hyperactive disorder, in a large family pedigree from Alpujarras, South of Spain
Externí odkaz:
https://doaj.org/article/604aa068781048feb2bfa2c3f746e73d
Autor:
Karolin Etterer, Guillermo Orozco Diaz, Sven Cichon, Markus M. Nöthen, Antonia Flaquer, Konstantin Strauch, Marcella Rietschel, Rami Abou Jamra, Fabio Rivas
Publikováno v:
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. (5)
We present the findings of a linkage study of bipolar affective disorder (BPAD) that involve the pseudoautosomal region 1 of the human sex chromosomes. We analyzed a substantial subset of pedigrees (89 families of German and Spanish origin; 661 parti
Autor:
Aleksandar, Rakovic, Barbara, Stiller, Ana, Djarmati, Antonia, Flaquer, Jan, Freudenberg, Mohammad-Reza, Toliat, Michael, Linnebank, Vladimir, Kostic, Katja, Lohmann, Sebastian, Paus, Peter, Nürnberg, Christian, Kubisch, Christine, Klein, Ullrich, Wüllner, Alfredo, Ramirez
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 24(3)
A role of ATP13A2 in early-onset Parkinsonism (EOP) has been proposed. Conversely, the contribution of this ATPase to late-onset Parkinson's disease (PD) remains unexplored. We therefore conducted a case-control association study in this age-of-onset
Publikováno v:
Human heredity. 68(3)
Objectives: Accurate sex-specific genetic maps are essential for gene mapping projects when using multipoint methods, especially for the pseudoautosomal regions (PARs). This paper describes a new sex-specific genetic map for the human PARs. Methods: