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The CDH1 c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing.
Barbosa-Matos R, Leal Silva R, Garrido L, Aguiar AC, Garcia-Pelaez J, André A, Seixas S, Sousa SP, Ferro L, Vilarinho L, Gullo I, Devezas V, Oliveira R, Fernandes S, Costa SC, Magalhães A, Baptista M, Carneiro F, Pinheiro H, Castedo S, Oliveira C. Barbosa-Matos R, et al. Among authors: fernandes s. Cancers (Basel). 2021 Sep 4;13(17):4464. doi: 10.3390/cancers13174464. Cancers (Basel). 2021. PMID: 34503274 Free PMC article.
Identification of new breakpoints in AZFb and AZFc.
Costa P, Gonçalves R, Ferrás C, Fernandes S, Fernandes AT, Sousa M, Barros A. Costa P, et al. Among authors: fernandes s, fernandes at. Mol Hum Reprod. 2008 Apr;14(4):251-8. doi: 10.1093/molehr/gan014. Epub 2008 Mar 7. Mol Hum Reprod. 2008. PMID: 18326547
Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism in Families with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins.
Karolak JA, Liu Q, Xie NG, Wu LR, Rocha G, Fernandes S, Ho-Ming L, Lo IF, Mowat D, Fiorino EK, Edelman M, Fox J, Hayes DA, Witte D, Parrott A, Popek E, Szafranski P, Zhang DY, Stankiewicz P. Karolak JA, et al. Among authors: fernandes s. J Mol Diagn. 2020 Apr;22(4):447-456. doi: 10.1016/j.jmoldx.2019.12.007. Epub 2020 Feb 7. J Mol Diagn. 2020. PMID: 32036090 Free PMC article.
Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management.
Kasak L, Lillepea K, Nagirnaja L, Aston KI, Schlegel PN, Gonçalves J, Carvalho F, Moreno-Mendoza D, Almstrup K, Eisenberg ML, Jarvi KA, O'Bryan MK, Lopes AM, Conrad DF; GEMINI Consortium; Punab M, Laan M. Kasak L, et al. Hum Reprod. 2022 Jun 30;37(7):1652-1663. doi: 10.1093/humrep/deac100. Hum Reprod. 2022. PMID: 35535697 Free PMC article.
AZFb microdeletions and oligozoospermia--which mechanisms?
Soares AR, Costa P, Silva J, Sousa M, Barros A, Fernandes S. Soares AR, et al. Among authors: fernandes s. Fertil Steril. 2012 Apr;97(4):858-63. doi: 10.1016/j.fertnstert.2012.01.099. Epub 2012 Feb 10. Fertil Steril. 2012. PMID: 22317821 Free article.
1,642 results