151
TITLE: Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens
AUTHORS: Viktoria Havasi; Steven M Rowe; Peter N Kolettis; Didem Dayangac; Ahmet Sahin; Ana Grangeia ; Filipa Carvalho ; Alberto Barros ; Mario Sousa ; Lluis Bassas; Teresa Casals; Eric J Sorscher;
PUBLISHED: 2010, SOURCE: FERTILITY AND STERILITY, VOLUME: 94, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef: 17
152
TITLE: CFTR mRNA transcripts quantification in infertile CAVD patients
AUTHORS: Sousa, L; Grangeia, A; Carvalho, F ; Sousa, M; Barros, A ;
PUBLISHED: 2010, SOURCE: 26th Annual Meeting of ESHRE in HUMAN REPRODUCTION, VOLUME: 25
INDEXED IN: WOS
153
TITLE: DEMETHYLATION OF THE CODING REGION IS PIVOTAL FOR TRANSCRIPTION OF THE HUMAN TESTIS-SPECIFIC PDHA2 GENE  Full Text
AUTHORS: Pinheiro, A; Faustino, I; Silva, MJ; Silva, J; Sa, R; Sousa, M; Barros, A ; Almeida, IT; Rivera, I;
PUBLISHED: 2010, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 33
INDEXED IN: WOS
154
TITLE: Disease: Adrenal hyperplasia
AUTHORS: Carvalho, B; Marques, CJ ; Carvalho, D ; Barros, A ; Carvalho, F ;
PUBLISHED: 2010, SOURCE: Human Genetics, VOLUME: 127, ISSUE: 4
INDEXED IN: Scopus
IN MY: ORCID
157
TITLE: Human testis-specific PDHA2 gene: Methylation status of a CpG island in the open reading frame correlates with transcriptional activity  Full Text
AUTHORS: Ana Pinheiro; Ines Faustino; Maria Joao Silva; Joaquina Silva; Rosalia Sa ; Mario Sousa ; Alberto Barros ; Isabel Tavares de Almeida ; Isabel Rivera ;
PUBLISHED: 2010, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 99, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 10
158
TITLE: Methylation defects of imprinted genes in human testicular spermatozoa
AUTHORS: Joana J Marques ; Tania Francisco; Sonia Sousa; Filipa Carvalho ; Alberto Barros ; Mario Sousa ;
PUBLISHED: 2010, SOURCE: FERTILITY AND STERILITY, VOLUME: 94, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 102
159
TITLE: Mutational Characterization of Steroid 21-Hydroxylase Gene in Portuguese patients with Congenital Adrenal Hyperplasia
AUTHORS: Marques, CJ ; Pignatelli, D; Carvalho, B; Barcelo, J; Almeida, AC; Fernandes, S; Witchel, SF; Sousa, M ; Oliveira, MJ; Freitas, P ; Fontoura, M ; Carvalho, D ; Barros, A ; Carvalho, F ;
PUBLISHED: 2010, SOURCE: EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES, VOLUME: 118, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef: 9
160
TITLE: Novel human pathological mutations. Gene symbol: CYP21A2. Disease: adrenal hyperplasia.
AUTHORS: Carvalho, B; Marques, CJ ; Carvalho, D ; Barros, A ; Carvalho, F ;
PUBLISHED: 2010, SOURCE: Human genetics, VOLUME: 127, ISSUE: 4
INDEXED IN: Scopus
IN MY: ORCID
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