F. Carvalho

发表

Preimplantation genetic diagnosis for familial amyloidotic polyneuropathy (FAP)

M. Saraiva, M. Sousa, A. Barros, 2001, Prenatal diagnosis.

Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment.

P. Marques, S. Seixas, L. Bassas, 2020, Fertility and sterility.

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

I. Bièche, M. Sousa, A. Barros, 2011, Epigenetics.

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

M. Sousa, A. Barros, C. J. Marques, 2008, Molecular human reproduction.

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

M. Sousa, E. Girodon, A. Barros, 2007, Genetics in Medicine.

Quantitative Analysis of Cellular Proliferation and Differentiation of the Human Seminiferous Epithelium In Vitro

I. Malheiro, M. Sousa, A. Barros, 2012, Reproductive Sciences.

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

M. Sousa, A. Barros, C. J. Marques, 2012, Journal of receptor and signal transduction research.

Gene expression pattern of IGF2, PHLDA2, PEG10 and CDKN1C imprinted genes in spontaneous miscarriages or fetal deaths

M. Sousa, A. Matias, A. Barros, 2010, Epigenetics.

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

V. Quesada, Diana A. Puente, R. Matthiesen, 2016, Human reproduction.

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

Lee B. Smith, D. Conrad, M. Punab, 2018, American journal of human genetics.

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 Epithelium1

I. Malheiro, M. Sousa, A. Barros, 2008, Biology of reproduction.

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

F. Carvalho, S. Dória, C. Ramalho, 2014, Journal of Assisted Reproduction and Genetics.

Genomic imprinting in disruptive spermatogenesis

M. Sousa, A. Barros, C. J. Marques, 2004, The Lancet.

Common genetic variation in KATNAL1 non‐coding regions is involved in the susceptibility to severe phenotypes of male infertility

P. Marques, S. Seixas, L. Bassas, 2022, Andrology.

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

P. Marques, S. Seixas, B. Cavadas, 2019, Andrology.

Diverse monogenic subforms of human spermatogenic failure

M. J. Xavier, D. Conrad, J. Veltman, 2022, Nature Communications.

Title: Diverse Monogenic Subforms of Human Spermatogenic Failure

M. J. Xavier, D. Conrad, W. Charng, 2022 .

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

M. Sousa, P. Marques, A. Barros, 2017, Andrology.

Premature ovarian insufficiency: clinical orientations for genetic testing and genetic counseling

A. Barros, F. Carvalho, F. Barros, 2020, Porto biomedical journal.

Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility

P. Marques, S. Seixas, L. Bassas, 2022, Communications Biology.

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

M. Sousa, A. Barros, T. Coelho, 2018, Reproductive biomedicine online.

Preimplantation genetic testing for Huntington disease: the perspective of one Portuguese center

A. Barros, F. Carvalho, Joaquina Silva, 2019, Porto biomedical journal.

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

S. Dhanjal, C. Moutou, J. Dreesen, 2013, European Journal of Human Genetics.

ESHRE PGT Consortium good practice recommendations for the organisation of PGT†

C. Rubio, C. Moutou, V. Goossens, 2020, Human reproduction open.

ESHRE PGT Consortium data collection XVI–XVIII: cycles from 2013 to 2015†

C. Rubio, C. Rubio, C. Moutou, 2020, Human reproduction open.

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

C. Moutou, V. Goossens, J. Dreesen, 2020, Human reproduction open.

Methylation defects of imprinted genes in human testicular spermatozoa.

M. Sousa, A. Barros, C. J. Marques, 2010, Fertility and sterility.

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

M. Sousa, A. Barros, F. Carvalho, 2004, Molecular human reproduction.

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

M. Sousa, A. Barros, F. Carvalho, 2013, Systems biology in reproductive medicine.

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

M. Sousa, A. Barros, F. Carvalho, 2002, European Journal of Human Genetics.

Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility.

M. J. Xavier, D. Conrad, J. Veltman, 2020, American journal of human genetics.

Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure

M. J. Xavier, D. Conrad, J. Veltman, 2021, Human Genetics.

Evaluation of Male Fertility-Associated Loci in a European Population of Patients with Severe Spermatogenic Impairment

P. Marques, S. Seixas, L. Bassas, 2020, Journal of personalized medicine.

Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia

D. Conrad, M. Punab, M. Laan, 2020, Human Genetics.

Contribution of TEX15 genetic variants to the risk of developing severe non-obstructive oligozoospermia

P. Marques, S. Seixas, L. Bassas, 2022, Frontiers in Cell and Developmental Biology.

Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only Syndrome

P. Marques, S. Seixas, L. Bassas, 2022, Journal of personalized medicine.

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

M. Sousa, E. Girodon, A. Barros, 2004, Human reproduction.

Characterization of microbiota in male infertility cases uncovers differences in seminal hyperviscosity and oligoasthenoteratozoospermia possibly correlated with increased prevalence of infectious bacteria

P. Marques, S. Seixas, B. Cavadas, 2018, American journal of reproductive immunology.

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

A. Barros, F. Carvalho, M. Sousa, 2014, Andrology.

Biallelic mutations in M1AP are a frequent cause of meiotic arrest leading to male infertility

D. Conrad, J. Veltman, S. Kahraman, 2019, bioRxiv.

The mutational spectrum of WT1 in male infertility.

A. Amorim, M. Sousa, P. Marques, 2015, The Journal of urology.

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

T. Casals, M. Sousa, L. Bassas, 2010, Fertility and sterility.

Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene DMRT1

D. Conrad, M. Hurles, C. Ober, 2013, PLoS genetics.

Molecular and Functional Characterization of CBAVD-Causing Mutations Located in CFTR Nucleotide-Binding Domains

Filipa Carvalho, Mário Sousa, M. Sousa, 2008, Cellular Physiology and Biochemistry.

Large Gene Rearrangements in Infertile Patients due to Congenital Absence of the Vas Deferens CFTR

M. Sousa, E. Girodon, A. Barros, 2022 .

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

M. Sousa, A. Barros, A. Grangeia, 2005, Fertility and sterility.

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

A. Di Rienzo, R. Seruca, S. Seixas, 2006, Molecular biology and evolution.

Aneuploidies detection in miscarriages and fetal deaths using multiplex ligation-dependent probe amplification: an alternative for speeding up results?

M. Sousa, A. Matias, A. Barros, 2010, European journal of obstetrics, gynecology, and reproductive biology.

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

M. Sousa, A. Matias, A. Barros, 2009, European journal of obstetrics, gynecology, and reproductive biology.

Complete mole in a dichorionic twin pregnancy after intracytoplasmic sperm injection.

N. Montenegro, F. Carvalho, C. Ramalho, 2013, Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia.

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

D. Conrad, P. Marques, S. Seixas, 2015, Andrology.

Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: An Update on Genetic Analysis of CYP21A2 Gene

D. Carvalho, F. Carvalho, M. Fontoura, 2020, Experimental and Clinical Endocrinology & Diabetes.

Effect and in silico characterization of genetic variants associated with severe spermatogenic disorders in a large Iberian cohort

P. Marques, S. Seixas, L. Bassas, 2021, Andrology.

Variant PNLDC1, Defective piRNA Processing, and Azoospermia.

D. Conrad, J. Veltman, N. Skakkebaek, 2021, The New England journal of medicine.

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

M. Sousa, A. Barros, F. Carvalho, 2010, Journal of Assisted Reproduction and Genetics.

Comparative study of gene expression in patients with varicocele by microarray technology

M. Sousa, A. Barros, F. Carvalho, 2012, Andrologia.

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

J. Oliveira, A. Amorim, M. Sousa, 2014, Reproductive biomedicine online.

Differences in hormonal levels between heterozygous CYP21A2 pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia

F. Carvalho, M. Fontoura, J. Pedro, 2022, Archives of endocrinology and metabolism.

Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia

D. Conrad, M. Punab, E. Rajpert-De Meyts, 2020, Human Genetics.

Isolation and detection of ingested DNA from the immature stages of Calliphora dubia (diptera: Calliphoridae)

M. Harvey, I. Dadour, F. Carvalho, 2005, Forensic science, medicine, and pathology.

Mutational Characterization of Steroid 21-Hydroxylase Gene in Portuguese patients with Congenital Adrenal Hyperplasia

M. Sousa, D. Carvalho, D. Pignatelli, 2009, Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association.