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TITLE: Diminished DNA binding affinity of DMRT1 caused by heterozygous DM domain mutations is a cause of male infertility
AUTHORS: Maric, Tihana; Castillo Madeen, Helen; Klaric, Monika Logara; Barisic, Antun; Trgovec Greif, Lovro; Murphy, Mark W.; Juchnewitsch, Anna Grete; Lillepea, Kristiina; Dutta, Avirup; Zunic, Lucija; Stendahl, Alexandra M.; Punab, Margus; Pomm, Kristjan; Mendoza, Daniel M.; Lopes, Alexandra M.; Sorgic, Ana Merkler; Vugrek, Oliver; Goncalves, Joao; Almstrup, Kristian; Aston, Kenneth, I; Beluzic, Robert; Jezek, Davor; Bertosa, Branimir; Laan, Maris; Bojanac, Ana Katusic; Conrad, Donald F.; Barbalic, Maja; ...More
PUBLISHED: 2025, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 34, ISSUE: 6
INDEXED IN: Scopus WOS
2
TITLE: A comprehensive study of common and rare genetic variants in spermatogenesis-related loci identifies new risk factors for idiopathic severe spermatogenic failure
AUTHORS: Guzman Jimenez, Andrea; Gonzalez Munoz, Sara; Cervan Martin, Miriam; Garrido, Nicolas; Castilla, Jose A.; Gonzalvo, M. Carmen; Clavero, Ana; Molina, Marta; Lujan, Saturnino; Santos Ribeiro, Samuel; Vilches, Miguel angel; Espuch, Andrea; Maldonado, Vicente; Galiano Gutierrez, Noelia; Santamaria Lopez, Esther; Gonzalez Ravina, Cristina; Quintana Ferraz, Fernando; Gomez, Susana; Amoros, David; Martinez Granados, Luis; Ortega Gonzalez, Yanira; Burgos, Miguel; Pereira Caetano, Iris; Bulbul, Ozgur; Castellano, Stefano; Romano, Massimo; Albani, Elena; Bassas, Lluis; Seixas, Susana; Goncalves, Joao; Lopes, Alexandra M.; Larriba, Sara; Palomino Morales, Rogelio J.; Carmona, F. David; Bossini Castillo, Lara; ...More
PUBLISHED: 2024, SOURCE: HUMAN REPRODUCTION OPEN, VOLUME: 2024, ISSUE: 4
INDEXED IN: Scopus WOS
4
TITLE: RAMP1 PROMOTER METHYLATION STATUS IN PORTUGUESE AND SPANISH WOMEN WITH MIGRAINE  Full Text
AUTHORS: Carvalho, Estefania; Dias, Andreia; Guerrero, Angel L.; Gomez, Carlos; Sousa, Alda; Lopes, Alexandra M.; Martins, Sandra; Pinto, Nadia ; Lemos, Carolina; Alves Ferreira, Miguel;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
5
TITLE: MUTATIONAL SPECTRUM OF GENES RELATED TO HEREDITARY NEUROPATHIES - DATA FROM A MOLECULAR DIAGNOSTICS LABORATORY  Full Text
AUTHORS: Lopes, Fatima; Lopes, Alexandra M.; Brandao, Ana Filipa; Silva, Paulo; Lopes, Ana; Bastos Ferreira, Rita; Morais, Sara; Sa, Joana; Rocha, Liliana; Alves, Filipe; Nabais Sa, Maria Joao; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
6
TITLE: GENETIC HETEROGENEITY IN MUSCULAR DYSTROPHIES AND CONGENITAL MYOPATHIES: DATA FROM MULTIGENE WES-BASED GENETIC STUDIES  Full Text
AUTHORS: Lopes, Alexandra M.; Lopes, Fatima; Brandao, Ana Filipa; Silva, Paulo; Alves, Filipe; Lopes, Ana; Bastos Ferreira, Rita; Morais, Sara; Nabais Sa, Maria Joao; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
7
TITLE: INTEGRATING FUNCTIONAL GENOMIC DATA TO PRIORITIZE CANDIDATE NON-CODING VARIANTS IN MIGRAINE SUSCEPTIBILITY  Full Text
AUTHORS: Felicio, Daniela; Martins, Sandra; Santos, Mariana; Lopes, Alexandra M.; Lemos, Carolina ; Pinto, Nadia ; Alves Ferreira, Miguel;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
8
TITLE: Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia
AUTHORS: Laura Kasak; Margus Punab; Liina Nagirnaja; Marina Grigorova; Ave Minajeva; Alexandra M Lopes; Anna Maria Punab; Kenneth I Aston; Filipa Carvalho ; Eve Laasik; Lee B Smith; Donald F Conrad; Maris Laan;
PUBLISHED: 2018, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 103, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 102
10
TITLE: A Standardized Approach for Multispecies Purification of Mammalian Male Germ Cells by Mechanical Tissue Dissociation and Flow Cytometry
AUTHORS: Ana C Lima; Min Jung; Jannette Rusch; Abul Usmani; Alexandra M Lopes; Donald F Conrad;
PUBLISHED: 2017, SOURCE: JOVE-JOURNAL OF VISUALIZED EXPERIMENTS, VOLUME: 2017, ISSUE: 125
INDEXED IN: Scopus WOS CrossRef: 2
IN MY: ORCID
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