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Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology|September 5, 2008
Molecular and functional characterization of CBAVD-causing mutations located in CFTR nucleotide-binding domainsAna Grangeia, René Barro-Soria, Filipa Carvalho, et al.
Human Reproduction (Oxford, England)|August 31, 2004
Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly(T) variants in Portuguese patients with congenital absence of the vas deferensAna Grangeia, Florence Niel, Filipa Carvalho, et al.
Systems Biology in Reproductive Medicine|September 20, 2012
Immunohystochemical analysis of CFTR in normal and disrupted spermatogenesisSílvia Teixeira, Rosália Sá, Ana Grangeia, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|May 14, 2026
Central congenital hypothyroidism caused by <i>TSHB</i> gene mutation: a case reportMariana Andrade, Ana Lemos, Catarina Mendonça, et al.
Ophthalmic Genetics|July 25, 2020
A novel MFRP gene variant in a family with posterior microphthalmos, retinitis pigmentosa, foveoschisis, and foveal hypoplasiaGonçalo Godinho, Carolina Madeira, Ana Grangeia, et al.
Case Reports in Ophthalmology|November 1, 2021
Two Novel Disease-Causing Variants in the PDE6C Gene Underlying AchromatopsiaCarolina Madeira, Gonçalo Godinho, Ana Grangeia, et al.
Cureus|July 3, 2026
Molecular Diagnosis in Patients With Tuberous Sclerosis Complex: A Deep Sequencing Approach in Clinical PracticeJoana A Neto, Jacinta Fonseca, Cláudia Melo, et al.
Cureus|February 6, 2026
A Novel PTEN Frameshift Variant in a Child With Autism Spectrum Disorder and Macrocephaly: A Case ReportMargarida Moreno Fernandes, Mariana Rodrigues Neto, Mariana Sá Pinto, et al.
European Journal of Ophthalmology|March 12, 2021
Cone dystrophy with supernormal rod responses: A rare KCNV2 gene variantJoão Esteves-Leandro, Sónia Torres-Costa, Sérgio Estrela-Silva, et al.
Fertility and Sterility|January 27, 2010
Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferensViktoria Havasi, Steven M Rowe, Peter N Kolettis, et al.
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