Lista de obras - Filipa Carvalho - Dominio Público Uruguay

A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia

artículo científico publicado en 2014

A novel missense mutation P1290S at exon-20 of the CFTR gene in a Portuguese patient with congenital bilateral absence of the vas deferens

artículo científico publicado en 2005

AZF and DAZ gene copy-specific deletion analysis in maturation arrest and Sertoli cell-only syndrome

artículo científico publicado en 2004

Abnormal methylation of imprinted genes in human sperm is associated with oligozoospermia

artículo científico publicado en 2008

An efficient protocol for the detection of chromosomal abnormalities in spontaneous miscarriages or foetal deaths

artículo científico publicado en 2009

Aneuploidies Detection in Miscarriages and Fetal Deaths Using Multiplex Ligation-Dependent Probe Amplification: An Alternative for Speeding up Results?

Application of touch FISH in the study of mosaic tetraploidy and maternal cell contamination in pregnancy losses

artículo científico publicado en 2010

Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens

artículo científico publicado en 2010

Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia

artículo científico publicado en 2018

Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly(T) variants in Portuguese patients with congenital absence of the vas deferens

artículo científico publicado en 2004

Characterization of missense mutations and large deletions in the ALPL gene by sequencing and quantitative multiplex PCR of short fragments.

artículo científico publicado en 2006

Clinical outcomes after preimplantation genetic diagnosis of patients with Corino de Andrade disease (familial amyloid polyneuropathy).

artículo científico publicado en 2017

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.

artículo científico publicado en 2008

DNA methylation imprinting errors in spermatogenic cells from maturation arrest azoospermic patients

artículo científico publicado en 2017

DNA methylation imprinting marks and DNA methyltransferase expression in human spermatogenic cell stages

artículo científico publicado en 2011

ESHRE PGT Consortium data collection XIX-XX: PGT analyses from 2016 to 2017<sup>†</sup>

artículo científico publicado en 2021

ESHRE PGT Consortium good practice recommendations for the detection of monogenic disorders

artículo científico publicado en 2020

Early Gestational Diagnosis of Lethal Skeletal Dysplasias: A 15 Year Retrospective Cohort Reviewing Concordance between Ultrasonographic, Genetic and Morphological Features

scientific article published on 13 May 2020

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.

artículo científico publicado en 2008

Evaluation of PCR-based preimplantation genetic diagnosis applied to monogenic diseases: a collaborative ESHRE PGD consortium study.

artículo científico publicado en 2013

Expression of stem cell markers: OCT4, KIT, ITGA6, and ITGB1 in the male germinal epithelium.

artículo científico publicado en 2013

Genetic regulation on ex vivo differentiated natural killer cells from human umbilical cord blood CD34+ cells

artículo científico publicado en 2012

Genomic imprinting in disruptive spermatogenesis

artículo científico publicado en 2004

Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.

artículo científico publicado en 2013

Immunohistochemical study of the expression of MUC6 mucin and co-expression of other secreted mucins (MUC5AC and MUC2) in human gastric carcinomas

artículo científico publicado en 2000

Keratitis-Ichthyosis-Deafness Syndrome Caused by GJB2 Maternal Mosaicism

artículo científico publicado en 2008

MUC1 gene polymorphism and gastric cancer--an epidemiological study.

artículo científico publicado en 1997

MUC1 gene polymorphism in the gastric carcinogenesis pathway.

artículo científico publicado en 2001

MUC1 polymorphism confers increased risk for intestinal metaplasia in a Colombian population with chronic gastritis

artículo científico publicado en 2003

MUC6 gene polymorphism in healthy individuals and in gastric cancer patients from northern Portugal.

artículo científico publicado en 1997

Methylation defects of imprinted genes in human testicular spermatozoa.

artículo científico publicado en 2009

Molecular and functional characterization of CBAVD-causing mutations located in CFTR nucleotide-binding domains

artículo científico publicado en 2008

Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens

artículo científico publicado en 2007

Mucins and mucin-associated carbohydrate antigens expression in gastric carcinoma cell lines

artículo científico publicado en 1999

Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease

artículo científico publicado en 2009

Phenotypic expression in the first case of complete trisomy 12: combination of prenatal ultrasound and necropsic examination

artículo científico publicado en 2009

Quantitative analysis of cellular proliferation and differentiation of the human seminiferous epithelium in vitro

artículo científico publicado en 2012

Rare double sex and mab-3-related transcription factor 1 regulatory variants in severe spermatogenic failure

artículo científico publicado en 2015

Relevance of genomic imprinting in intrauterine human growth expression of CDKN1C, H19, IGF2, KCNQ1 and PHLDA2 imprinted genes

artículo científico publicado en 2014

Semen quality is affected by HLA class I alleles together with sexually transmitted diseases

scientific article published on 19 April 2019

Sequence diversity at the proximal 14q32.1 SERPIN subcluster: evidence for natural selection favoring the pseudogenization of SERPINA2.

artículo científico publicado en 2006

Sequence variation at KLK and WFDC clusters and its association to semen hyperviscosity and other male infertility phenotypes

artículo científico publicado en 2016

Spectrum of CFTR gene sequence variants in a northern Portugal population

artículo científico publicado en 2018

The clinical utility of PGD with HLA matching: a collaborative multi-centre ESHRE study

artículo científico publicado en 2018

The g.1170C>T polymorphism of the 5' untranslated region of the human alpha-galactosidase gene is associated with decreased enzyme expression--evidence from a family study

scientific article published on 03 November 2008

The mutational spectrum of WT1 in male infertility.

artículo científico publicado en 2014

Treatment by testicular sperm extraction and intracytoplasmic sperm injection of 65 azoospermic patients with non-mosaic Klinefelter syndrome with birth of 17 healthy children

artículo científico publicado en 2014

Unique (Y;13) translocation in a male with oligozoospermia: cytogenetic and molecular studies

artículo científico publicado en 2002

Lista de obras de Filipa Carvalho

A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia

A novel missense mutation P1290S at exon-20 of the CFTR gene in a Portuguese patient with congenital bilateral absence of the vas deferens

AZF and DAZ gene copy-specific deletion analysis in maturation arrest and Sertoli cell-only syndrome

Abnormal methylation of imprinted genes in human sperm is associated with oligozoospermia

An efficient protocol for the detection of chromosomal abnormalities in spontaneous miscarriages or foetal deaths

Aneuploidies Detection in Miscarriages and Fetal Deaths Using Multiplex Ligation-Dependent Probe Amplification: An Alternative for Speeding up Results?

Application of touch FISH in the study of mosaic tetraploidy and maternal cell contamination in pregnancy losses

Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens

Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia

Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly(T) variants in Portuguese patients with congenital absence of the vas deferens

Characterization of missense mutations and large deletions in the ALPL gene by sequencing and quantitative multiplex PCR of short fragments.

Clinical outcomes after preimplantation genetic diagnosis of patients with Corino de Andrade disease (familial amyloid polyneuropathy).

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.

DNA methylation imprinting errors in spermatogenic cells from maturation arrest azoospermic patients

DNA methylation imprinting marks and DNA methyltransferase expression in human spermatogenic cell stages

ESHRE PGT Consortium data collection XIX-XX: PGT analyses from 2016 to 2017<sup>†</sup>

ESHRE PGT Consortium good practice recommendations for the detection of monogenic disorders

Early Gestational Diagnosis of Lethal Skeletal Dysplasias: A 15 Year Retrospective Cohort Reviewing Concordance between Ultrasonographic, Genetic and Morphological Features

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.

Evaluation of PCR-based preimplantation genetic diagnosis applied to monogenic diseases: a collaborative ESHRE PGD consortium study.

Expression of stem cell markers: OCT4, KIT, ITGA6, and ITGB1 in the male germinal epithelium.

Genetic regulation on ex vivo differentiated natural killer cells from human umbilical cord blood CD34+ cells

Genomic imprinting in disruptive spermatogenesis

Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.

Immunohistochemical study of the expression of MUC6 mucin and co-expression of other secreted mucins (MUC5AC and MUC2) in human gastric carcinomas

Keratitis-Ichthyosis-Deafness Syndrome Caused by GJB2 Maternal Mosaicism

MUC1 gene polymorphism and gastric cancer--an epidemiological study.

MUC1 gene polymorphism in the gastric carcinogenesis pathway.

MUC1 polymorphism confers increased risk for intestinal metaplasia in a Colombian population with chronic gastritis

MUC6 gene polymorphism in healthy individuals and in gastric cancer patients from northern Portugal.

Methylation defects of imprinted genes in human testicular spermatozoa.

Molecular and functional characterization of CBAVD-causing mutations located in CFTR nucleotide-binding domains

Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens

Mucins and mucin-associated carbohydrate antigens expression in gastric carcinoma cell lines

Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease

Phenotypic expression in the first case of complete trisomy 12: combination of prenatal ultrasound and necropsic examination

Quantitative analysis of cellular proliferation and differentiation of the human seminiferous epithelium in vitro

Rare double sex and mab-3-related transcription factor 1 regulatory variants in severe spermatogenic failure

Relevance of genomic imprinting in intrauterine human growth expression of CDKN1C, H19, IGF2, KCNQ1 and PHLDA2 imprinted genes

Semen quality is affected by HLA class I alleles together with sexually transmitted diseases

Sequence diversity at the proximal 14q32.1 SERPIN subcluster: evidence for natural selection favoring the pseudogenization of SERPINA2.

Sequence variation at KLK and WFDC clusters and its association to semen hyperviscosity and other male infertility phenotypes

Spectrum of CFTR gene sequence variants in a northern Portugal population

The clinical utility of PGD with HLA matching: a collaborative multi-centre ESHRE study

The g.1170C>T polymorphism of the 5' untranslated region of the human alpha-galactosidase gene is associated with decreased enzyme expression--evidence from a family study

The mutational spectrum of WT1 in male infertility.

Treatment by testicular sperm extraction and intracytoplasmic sperm injection of 65 azoospermic patients with non-mosaic Klinefelter syndrome with birth of 17 healthy children

Unique (Y;13) translocation in a male with oligozoospermia: cytogenetic and molecular studies