List of works - Susana Fernandes

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

scientific article

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

scientific article published in February 2005

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

scientific article published on 12 February 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

scientific article published in October 2004

AZFb microdeletions and oligozoospermia--which mechanisms?

scientific article published on 10 February 2012

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

scientific article published on 4 January 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

scientific article published in November 2004

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

scientific article published on 29 July 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.

scientific article published on 30 July 2008

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

scientific article published on 10 March 2017

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

scientific article published on 16 February 2012

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

scientific article

Identification of new breakpoints in AZFb and AZFc

scientific article published on 7 March 2008

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

scientific article published on 23 October 2009

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

scientific article published on 11 February 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.

scientific article published on 12 April 2013

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

scientific article published on 2 July 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

scientific article published in March 2005

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

scientific article published in 2022

List of works by Susana Fernandes