2
TITLE: Alpha-1 antitrypsin deficiency in Madeira Island: The first null variant and the contribution of deficient genotypes
AUTHORS: Calves, Ana Sara Gon; Carvalhoa, Joao; Sousaa, Claudia; Seixasb, Susana; Teixeiraa, Vitor;
PUBLISHED: 2024, SOURCE: PULMONOLOGY, VOLUME: 30, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
3
TITLE: Changes in environmental exposures over decades may influence the genetic architecture of severe spermatogenic failure
AUTHORS: Cervan Martin, Miriam; Gonzalez Munoz, Sara; Guzman Jimenez, Andrea; Higueras Serrano, Inmaculada; Castilla, Jose A.; Garrido, Nicolas; Lujan, Saturnino; Bassas, Lluis; Seixas, Susana; Goncalves, Joao; Lopes, Alexandra M.; Larriba, Sara; Palomino Morales, Rogelio J.; Bossini Castillo, Lara; Carmona, F. David;
PUBLISHED: 2024, SOURCE: HUMAN REPRODUCTION, VOLUME: 39, ISSUE: 3
INDEXED IN: WOS CrossRef: 1
IN MY: ORCID
4
TITLE: Investigating p.Ala1035Val in NPC1: New Cellular Models for Niemann-Pick Type C Disease  Full Text
AUTHORS: David, Hugo; Monfregola, Jlenia; Ribeiro, Isaura ; Cardoso, Maria Teresa ; Sandiares, Ana Catarina; Moreira, Luciana; Coutinho, Maria Francisca; Quelhas, Dulce; Ballabio, Andrea; Alves, Sandra; Encarnacao, Marisa;
PUBLISHED: 2024, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 25, ISSUE: 22
INDEXED IN: Scopus WOS CrossRef
5
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
6
TITLE: Alpha-1-antitrypsin deficiency caused by a PI*ZQ0Leiria genotype-the importance of diagnosis algorithms
AUTHORS: Silva, M. J. V.; Seixasb, S.; Canotilhoa, M. J.; FeijOa, S.;
PUBLISHED: 2023, SOURCE: PULMONOLOGY, VOLUME: 29, ISSUE: 1
INDEXED IN: WOS CrossRef
IN MY: ORCID
7
TITLE: WHOLE-GENOME SEQUENCING ANALYSIS TO IDENTIFY CANDIDATE HDGC GENETIC MODIFIERS FOR THE CDH1 C.1901 VARIANT  Full Text
AUTHORS: Fonseca, Joao; Barbosa Matos, Rita; Ferreira, Marta; Ferreira, Daniel A. G.; Garrido, Luzia; Seixas, Susana; Xavier, Joana M. ; Maia, Ana Teresa ; Oliveira, Carla;
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: A de novo paradigm for male infertility
AUTHORS: Oud M.S.; Smits R.M.; Smith H.E.; Mastrorosa F.K.; Holt G.S.; Houston B.J.; de Vries P.F.; Alobaidi B.K.S.; Batty L.E.; Ismail H.; Greenwood J.; Sheth H.; Mikulasova A.; Astuti G.D.N.; Gilissen C.; McEleny K.; Turner H.; Coxhead J.; Cockell S.; Braat D.D.M.; Fleischer K.; D’Hauwers K.W.M.; Schaafsma E.; Donald F Conrad; Douglas T Carrell; James M Hotaling; Timothy G Jenkins; Rob McLachlan; Moira K O’Bryan; 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; Nagirnaja L.; Nagirnaja L.; Conrad D.F.; Friedrich C.; Kliesch S.; Aston K.I.; Aston K.I.; Riera-Escamilla A.; Krausz C.; Gonzaga-Jauregui C.; Santibanez-Koref M.; Elliott D.J.; Vissers L.E.L.M.; Tüttelmann F.; Ramos L.; Xavier M.J.; van der Heijden G.W.; Veltman J.A.; ...More
PUBLISHED: 2022, SOURCE: NATURE COMMUNICATIONS, VOLUME: 13, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 50
IN MY: ORCID
9
TITLE: Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only Syndrome
AUTHORS: Cervan Martin, Miriam; Bossini Castillo, Lara; Guzman Jimenez, Andrea; Rivera Egea, Rocio; Garrido, Nicolas; Lujan, Saturnino; Romeu, Gema; Santos Ribeiro, Samuel; Castilla, Jose A.; Gonzalvo, M. Carmen; Clavero, Ana; Vicente, F. Javier; Maldonado, Vicente; Gonzalez Munoz, Sara; Rodriguez Martin, Inmaculada; Burgos, Miguel; Jimenez, Rafael; Pinto, Maria Graca; Pereira, Isabel; Nunes, Joaquim; Sanchez Curbelo, Josvany; Lopez Rodrigo, Olga; Pereira Caetano, Iris; Marques, Patricia Isabel; Carvalho, Filipa ; Barros, Alberto ; Bassas, Lluis; Seixas, Susana; Goncalves, Joao; Larriba, Sara; Lopes, Alexandra M. ; Carmona, F. David; Palomino Morales, Rogelio J.; ...More
PUBLISHED: 2022, SOURCE: JOURNAL OF PERSONALIZED MEDICINE, VOLUME: 12, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef Unpaywall
IN MY: ORCID
10
TITLE: Common genetic variation in KATNAL1 non-coding regions is involved in the susceptibility to severe phenotypes of male infertility  Full Text
AUTHORS: Cervan Martin, Miriam; Bossini Castillo, Lara; Guzman Jimenez, Andrea; Rivera Egea, Rocio; Garrido, Nicolas; Lujan, Saturnino; Romeu, Gema; Santos Ribeiro, Samuel; Antonio Castilla, Jose; del Carmen Gonzalvo, Maria; Clavero, Ana; Maldonado, Vicente; Javier Vicente, Francisco; Burgos, Miguel; Jimenez, Rafael; Gonzalez Munoz, Sara; Sanchez Curbelo, Josvany; Lopez Rodrigo, Olga; Pereira Caetano, Iris; Marques, Patricia Isabel; Carvalho, Filipa ; Barros, Alberto ; Bassas, Lluis; Seixas, Susana; Goncalves, Joao; Larriba, Sara; Lopes, Alexandra Manuel ; Jesus Palomino Morales, Rogelio; David Carmona, Francisco; ...More
PUBLISHED: 2022, SOURCE: ANDROLOGY, VOLUME: 10, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef: 4 Unpaywall
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