71
TITLE: Transmission of KID syndrome by a mosaic parent for a GJB2 mutation  Full Text
AUTHORS: Titeux, M; Mendonca, V; Decha, A; Moreira, E; Magina, S; Maia, A; Lacaze Buzy, L; E Mejia; Torrao, L; Carvalho, F ; Eca Guimaraes, J; Hovnanian, A;
PUBLISHED: 2009, SOURCE: Annual Congress of the French-Speaking-Society-for-Dermatological-Research in JOURNAL OF INVESTIGATIVE DERMATOLOGY, VOLUME: 129, ISSUE: 3
INDEXED IN: WOS
72
TITLE: Abnormal alpha-galactosidase mRNA transcripts are present in individuals with apparently normal exonic and splicing-site gene sequence
AUTHORS: Ferreira, S; Viana Baptista, M; Carvalho, F ; Fernandes, S; Ferro, J; Oliveira, JP ;
PUBLISHED: 2008, SOURCE: 8th Annual European Round Table on Fabry Disease in CLINICAL THERAPEUTICS, VOLUME: 30
INDEXED IN: WOS
73
TITLE: Abnormal methylation of imprinted genes in human sperm is associated with oligozoospermia
AUTHORS: Marques, CJ ; Costa, P; Vaz, B; Carvalho, F ; Fernandes, S; Barros, A ; Sousa, M ;
PUBLISHED: 2008, SOURCE: MOLECULAR HUMAN REPRODUCTION, VOLUME: 14, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 284
76
TITLE: Establishment of genomic imprinting in human spermatogenesis
AUTHORS: Marques, CJ ; Costa, P; Vaz, B; Sousa, S; Carvalho, F ; Fernandes, S; Silva, J; Barros, A ; Sousa, M;
PUBLISHED: 2008, SOURCE: 17th Mammalian Genetics and Development Workshop of the Genetics-Society in GENETICS RESEARCH, VOLUME: 90, ISSUE: 3
INDEXED IN: WOS
77
TITLE: Molecular and functional characterization of CBAVD-causing mutations located in CFTR nucleotide-binding domains
AUTHORS: Ana Grangeia ; Rene Barro Soria; Filipa Carvalho ; Ana M Damas ; Ana Colette Mauricio ; Karl Kunzelmann ; Alberto Barros ; Mario Sousa ;
PUBLISHED: 2008, SOURCE: CELLULAR PHYSIOLOGY AND BIOCHEMISTRY, VOLUME: 22, ISSUE: 1-4
INDEXED IN: Scopus WOS CrossRef: 7
79
TITLE: A complex case at prenatal diagnosis
AUTHORS: Pinto Leite; Souto, M; Carvalho, B; Marques, B; Carvalho, F ; Ribeiro, E;
PUBLISHED: 2007, SOURCE: 6th European Cytogenetics Conference in CHROMOSOME RESEARCH, VOLUME: 15
INDEXED IN: WOS
80
TITLE: Analysis of H19 and MEST/PEG1 and Line 1 transposon methylation patterns in oligozoospermia
AUTHORS: Carvalho, F ; Marques, CJ ; Costa, P; Vaz, B; Fernandes, S; Arnaud, P; Barros, A ; Sousa, M;
PUBLISHED: 2007, SOURCE: 23rd Annual Meeting of the European-Society-of-Human-Reproduction-and-Embryology in HUMAN REPRODUCTION, VOLUME: 22
INDEXED IN: WOS
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