S. Fernandes

M. Sousa, C. J. Marques, S. Witchel, 2009, Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association.

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

A. Barros, S. Fernandes, A. Pinho, 2020, Andrology.

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.

High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome.

W. Schulze, P. Vogt, A. Mielnik, 2001, Molecular human reproduction.

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.

M. Sousa, A. Barros, S. Fernandes, 2005, Human reproduction.

Expression Analysis of MLH3, MLH1, and MSH4 in Maturation Arrest

M. Sousa, A. Barros, S. Fernandes, 2012, Reproductive Sciences.

AZFb microdeletions and oligozoospermia--which mechanisms?

M. Sousa, A. Barros, S. Fernandes, 2012, Fertility and sterility.

Y-chromosome microdeletions in nonobstructive azoospermia and severe oligozoospermia

M. Sousa, A. Barros, S. Fernandes, 2016, Asian journal of andrology.

DAZ gene copies: evidence of Y chromosome evolution.

M. Sousa, A. Rosa, A. Brehm, 2006, Molecular human reproduction.

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.

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.

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.

The mutational spectrum of WT1 in male infertility.

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

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.

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.

Frequent DAZ1/DAZ2 deletions in men with severe oligozoospermia

N. Skakkebaek, B. Habermann, P. Vogt, 2003 .

Molecular analysis of the structural and functional complexity of the human AZFc male fertility locus in distal Yq11 = Análise molecular da complexidade estrutural e funcional do locus da fertilidade masculina localizado na porção distal de Yq11 (AZFc)

S. Fernandes, 2003 .

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

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

The CDH1 c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing

S. Seixas, S. Castedo, Carla Oliveira, 2021, Cancers.

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.

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.