ProfileOfResearchers

TITLE: Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure Full Text
AUTHORS: Jimmaline J Hardy; Margot J Wyrwoll; William Mcfadden; Agnieszka Malcher; Nadja Rotte; Nijole C Pollock; Sarah Munyoki; Maria V Veroli; Brendan J Houston; Miguel J Xavier; Laura Kasak; Margus Punab; Maris Laan; Sabine Kliesch; Peter Schlegel; Thomas Jaffe; Kathleen Hwang; Josip Vukina; Miguel A Brieño-Enríquez; Kyle Orwig; Judith Yanowitz; Michael Buszczak; Joris A Veltman; Manon Oud; Liina Nagirnaja; Marta Olszewska; Moira K O’Bryan; Donald F Conrad; Maciej Kurpisz; Frank Tüttelmann; Alexander N Yatsenko; Donald F Conrad; Liina Nagirnaja; Kenneth I Aston; Douglas T Carrell; James M Hotaling; Timothy G Jenkins; Rob McLachlan; Moira K O’Bryan; Peter N Schlegel; Michael L Eisenberg; Jay I Sandlow; Emily S Jungheim; Kenan R Omurtag; Alexandra M Lopes ; Susana Seixas; Filipa Carvalho ; Susana Fernandes; Alberto Barros ; João Gonçalves; Iris Caetano; Graça Pinto; Sónia Correia; Maris Laan; Margus Punab; Ewa Rajpert-De Meyts; Niels Jørgensen; Kristian Almstrup; Csilla G Krausz; Keith A Jarvi; ...More
PUBLISHED: 2021, SOURCE: Human Genetics, VOLUME: 140, ISSUE: 8

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TITLE: Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility
AUTHORS: Wyrwoll, MJ; Temel, SG; Nagirnaja, L; Oud, MS; Lopes, AM ; van der Heijden, GW; Heald, JS; Rotte, N; Wistuba, J; Woste, M; Ledig, S; Krenz, H; Smits, RM; Carvalho, F ; Goncalves, J; Fietz, D; Turkgenc, B; Ergoren, MC; Cetinkaya, M; Basar, M; Kahraman, S; McEleny, K; Xavier, MJ; Turner, H; Pilatz, A; Ropke, A; Dugas, M; Kliesch, S; Neuhaus, N; Aston, KI; Conrad, DF; Veltman, JA; Friedrich, C; Tuttelmann, F; ...More
PUBLISHED: 2020, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 107, ISSUE: 2

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TITLE: Contribution of rare cryptic deletions to severe spermatogenic impairment - insights from a large cohort of azoospermic men (GEMINI) Full Text
AUTHORS: Alexandra M Lopes ; Liina Nagirnaja; Filipa Carvalho ; Joao Goncalves; Susana Fernandes; Kristian Almstrup; Ewa Rajpert De Meyts; Susana Seixas; Brendan Houston; Alberto Barros; Moira O'Bryan; Kenneth I Aston; Donald F Conrad;
PUBLISHED: 2020, SOURCE: 23rd Annual Meeting of the Portuguese-Society-of-Human-Genetics in MEDICINE, VOLUME: 99, ISSUE: 9

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TITLE: Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia (Nov, 10.1007/s00439-020-02236-1, 2020) Full Text
AUTHORS: Albert Salas-Huetos; Frank Tüttelmann; Margot J Wyrwoll; Sabine Kliesch; Alexandra M Lopes ; João Gonçalves; Steven E Boyden; Marius Wöste; James M Hotaling; Liina Nagirnaja; Donald F Conrad; Douglas T Carrell; Kenneth I Aston; Alberto Barros ;
PUBLISHED: 2020, SOURCE: HUMAN GENETICS, VOLUME: 140, ISSUE: 1

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TITLE: Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men
AUTHORS: Csilla Krausz; Antoni Riera Escamilla; Daniel Moreno Mendoza; Kaylee Holleman; Francesca Cioppi; Ferran Algaba; Marc Pybus; Corinna Friedrich; Margot J Wyrwoll; Elena Casamonti; Sara Pietroforte; Liina Nagirnaja; Alexandra M Lopes ; Sabine Kliesch; Adrian Pilatz; Douglas T Carrell; Donald F Conrad; Elisabet Ars; Eduard Ruiz Castane; Kenneth I Aston; Willy M Baarends; Frank Tuettelmann; ...More
PUBLISHED: 2020, SOURCE: GENETICS IN MEDICINE

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TITLE: Genome-Wide Scan for Five Brain Oscillatory Phenotypes Identifies a New QTL Associated with Theta EEG Band Full Text
AUTHORS: Rebelo, MA; Gomez, C; Gomes, I; Poza, J; Martins, S ; Maturana Candelas, A; Ruiz Gomez, SJ; Duraes, L; Sousa, P; Figueruelo, M; Rodriguez, M; Pita, C; Arenas, M; Alvarez, L; Hornero, R; Pinto, N ; Lopes, AM ;
PUBLISHED: 2020, SOURCE: BRAIN SCIENCES, VOLUME: 10, ISSUE: 11

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TITLE: Relationship between the Presence of the ApoE epsilon 4 Allele and EEG Complexity along the Alzheimer's Disease Continuum Full Text
AUTHORS: Gutierrez de Pablo, V; Gomez, C; Poza, J; Maturana Candelas, A; Martins, S ; Gomes, I; Lopes, AM ; Pinto, N ; Hornero, R;
PUBLISHED: 2020, SOURCE: SENSORS, VOLUME: 20, ISSUE: 14

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TITLE: Analysis of Spontaneous EEG Activity in Alzheimer's Disease Patients by Means of Multiscale Spectral Entropy
AUTHORS: Maturana Candelas, A; Gómez, C; Poza, J; Ruiz Gómez, SJ; Núñez, P; Rodríguez, M; Figueruelo, M; Pita, C; Pinto, N ; Martins, S ; Lopes, AM ; Gomes, I; Hornero, R;
PUBLISHED: 2019, SOURCE: CONVERGING CLINICAL AND ENGINEERING RESEARCH ON NEUROREHABILITATION III, VOLUME: 21

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