about
Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferensRelevance of genomic imprinting in intrauterine human growth expression of CDKN1C, H19, IGF2, KCNQ1 and PHLDA2 imprinted genesApplication of touch FISH in the study of mosaic tetraploidy and maternal cell contamination in pregnancy losses.Sequence diversity at the proximal 14q32.1 SERPIN subcluster: evidence for natural selection favoring the pseudogenization of SERPINA2.Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.Evaluation of PCR-based preimplantation genetic diagnosis applied to monogenic diseases: a collaborative ESHRE PGD consortium study.Rare double sex and mab-3-related transcription factor 1 regulatory variants in severe spermatogenic failure.Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens.Sequence variation at KLK and WFDC clusters and its association to semen hyperviscosity and other male infertility phenotypes.Genetic regulation on ex vivo differentiated natural killer cells from human umbilical cord blood CD34+ cells.Molecular and functional characterization of CBAVD-causing mutations located in CFTR nucleotide-binding domains.Phenotypic expression in the first case of complete trisomy 12: combination of prenatal ultrasound and necropsic examination.Effect of single-nucleotide polymorphisms of the 5' untranslated region of the human α-galactosidase gene on enzyme activity, and their frequencies in Portuguese caucasians.Cytological and expression studies and quantitative analysis of the temporal and stage-specific effects of follicle-stimulating hormone and testosterone during cocultures of the normal human seminiferous epithelium.Expression of stem cell markers: OCT4, KIT, ITGA6, and ITGB1 in the male germinal epithelium.Genomic imprinting in disruptive spermatogenesis.Clinical outcomes after preimplantation genetic diagnosis of patients with Corino de Andrade disease (familial amyloid polyneuropathy).The mutational spectrum of WT1 in male infertility.Quantitative analysis of cellular proliferation and differentiation of the human seminiferous epithelium in vitro.DNA methylation imprinting errors in spermatogenic cells from maturation arrest azoospermic patients.The clinical utility of PGD with HLA matching: a collaborative multi-centre ESHRE study.MUC1 gene polymorphism and gastric cancer--an epidemiological study.Methylation defects of imprinted genes in human testicular spermatozoa.MUC6 gene polymorphism in healthy individuals and in gastric cancer patients from northern Portugal.MUC1 gene polymorphism in the gastric carcinogenesis pathway.Characterization of missense mutations and large deletions in the ALPL gene by sequencing and quantitative multiplex PCR of short fragments.A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermiaMUC1 polymorphism confers increased risk for intestinal metaplasia in a Colombian population with chronic gastritisAneuploidies Detection in Miscarriages and Fetal Deaths Using Multiplex Ligation-Dependent Probe Amplification: An Alternative for Speeding up Results?An efficient protocol for the detection of chromosomal abnormalities in spontaneous miscarriages or foetal deathsDNA methylation imprinting marks and DNA methyltransferase expression in human spermatogenic cell stagesKeratitis-Ichthyosis-Deafness Syndrome Caused by GJB2 Maternal MosaicismBi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive AzoospermiaTreatment by testicular sperm extraction and intracytoplasmic sperm injection of 65 azoospermic patients with non-mosaic Klinefelter syndrome with birth of 17 healthy childrenAbnormal methylation of imprinted genes in human sperm is associated with oligozoospermiaA novel missense mutation P1290S at exon-20 of the CFTR gene in a Portuguese patient with congenital bilateral absence of the vas deferensAZF and DAZ gene copy-specific deletion analysis in maturation arrest and Sertoli cell-only syndromeCharacterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly(T) variants in Portuguese patients with congenital absence of the vas deferensUnique (Y;13) translocation in a male with oligozoospermia: cytogenetic and molecular studiesMucins and mucin-associated carbohydrate antigens expression in gastric carcinoma cell lines
P50
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P50
description
onderzoeker
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researcher
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հետազոտող
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name
Filipa Carvalho
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Filipa Carvalho
@en
Filipa Carvalho
@es
Filipa Carvalho
@nl
type
label
Filipa Carvalho
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Filipa Carvalho
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Filipa Carvalho
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Filipa Carvalho
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prefLabel
Filipa Carvalho
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Filipa Carvalho
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Filipa Carvalho
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Filipa Carvalho
@nl
P106
P1153
7103069682
P31
P496
0000-0001-9546-4614