Lista de obras - Susana Fernandes - Dominio Público Uruguay

A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N

artículo científico publicado en 2003

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

A novel mutation in FOXF1 gene associated with alveolar capillary dysplasia with misalignment of pulmonary veins, intestinal malrotation and annular pancreas

artículo científico publicado en 2013

A novel splicing mutation causes analbuminemia in a Portuguese boy

article

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

artículo científico publicado en 2004

AZFb microdeletions and oligozoospermia--which mechanisms?

artículo científico publicado en 2012

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

artículo científico publicado en 2008

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

Clinical and molecular characterization of Y microdeletions and X-linked CNV67 implications in male fertility: a 20-year experience

artículo científico publicado en 2019

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

Expression analysis of MLH3, MLH1, and MSH4 in maturation arrest

artículo científico publicado en 2012

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

artículo científico publicado en 2013

Identification of new breakpoints in AZFb and AZFc

artículo científico publicado en 2008

Mutational characterization of steroid 21-hydroxylase gene in Portuguese patients with congenital adrenal hyperplasia

artículo científico publicado en 2009

Nonoptical massive parallel DNA sequencing of BRCA1 and BRCA2 genes in a diagnostic setting.

artículo científico publicado en 2013

Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.

artículo científico publicado en 2013

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

artículo científico publicado en 2015

Unique t(Y;1)(q12;q12) reciprocal translocation with loss of the heterochromatic region of chromosome 1 in a male with azoospermia due to meiotic arrest: a case report

artículo científico publicado en 2005

Whole-Exome Sequencing Targeting a Gene Panel for Sensorineural Hearing Loss: The First Portuguese Cohort Study

scientific article published in 2022

Lista de obras de Susana Fernandes

A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N

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

A novel mutation in FOXF1 gene associated with alveolar capillary dysplasia with misalignment of pulmonary veins, intestinal malrotation and annular pancreas

A novel splicing mutation causes analbuminemia in a Portuguese boy

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

AZFb microdeletions and oligozoospermia--which mechanisms?

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

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

Clinical and molecular characterization of Y microdeletions and X-linked CNV67 implications in male fertility: a 20-year experience

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

Expression analysis of MLH3, MLH1, and MSH4 in maturation arrest

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

Identification of new breakpoints in AZFb and AZFc

Mutational characterization of steroid 21-hydroxylase gene in Portuguese patients with congenital adrenal hyperplasia

Nonoptical massive parallel DNA sequencing of BRCA1 and BRCA2 genes in a diagnostic setting.

Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.

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

Unique t(Y;1)(q12;q12) reciprocal translocation with loss of the heterochromatic region of chromosome 1 in a male with azoospermia due to meiotic arrest: a case report

Whole-Exome Sequencing Targeting a Gene Panel for Sensorineural Hearing Loss: The First Portuguese Cohort Study