List of works - João Gonçalves

A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface

scientific journal article

Identification of SOX3 as an XX male sex reversal gene in mice and humans

scientific article

Incorrect DNA methylation of the DAZL promoter CpG island associates with defective human sperm

scientific article

The AZFc region of the Y chromosome: at the crossroads between genetic diversity and male infertility

scientific article

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

scientific article

Genetic dissection of the AZF regions of the human Y chromosome: thriller or filler for male (in)fertility?

scientific article published on 30 June 2010

No evidence for an mtDNA role in sperm motility: data from complete sequencing of asthenozoospermic males

scientific article

CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: Identification of two novel mutations and characterization of four different partial gene conversions

article

Human mtDNA haplogroups and reduced male fertility: real association or hidden population substructuring

article

Characterizing partial AZFc deletions of the Y chromosome with amplicon-specific sequence markers

scientific article

The expression of tubulin cofactor A (TBCA) is regulated by a noncoding antisense Tbca RNA during testis maturation.

scientific article

Mutation C11994T in the mitochondrial ND4 gene is not a cause of low sperm motility in Portugal

scientific article published on 22 May 2007

Congenital adrenal hyperplasia: focus on the molecular basis of 21-hydroxylase deficiency.

scientific article published on 30 April 2007

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

scientific article published on 16 May 2014

Besnoitia besnoiti and Toxoplasma gondii: two apicomplexan strategies to manipulate the host cell centrosome and Golgi apparatus.

scientific article

Revisiting the tubulin folding pathway: new roles in centrosomes and cilia

scientific article published on December 2010

Modulation of translation factor's gene expression by histone deacetylase inhibitors in breast cancer cells.

scientific article

X-linked adrenal hypoplasia congenita: clinical and follow-up findings of two kindreds, one with a novel NR0B1 mutation

scientific article published on 01 April 2015

Late onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency: revision of literature and preconception genetic study of five couples

scientific article published on 01 January 2011

The NEMP family supports metazoan fertility and nuclear envelope stiffness

scientific article published on 28 August 2020

A systematic proximity map of the centriole-cilia interface.

scientific article published on 13 July 2015

Screening for Y chromosome sequences in patients with Turner syndrome

scientific article published on 01 March 2002

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

scientific article published on 29 December 2020

PROS1 novel splice-site variant decreases protein S expression in patients from two families with thrombotic disease

scientific article published on 3 November 2017

List of works by João Gonçalves

A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface

Identification of SOX3 as an XX male sex reversal gene in mice and humans

Incorrect DNA methylation of the DAZL promoter CpG island associates with defective human sperm

The AZFc region of the Y chromosome: at the crossroads between genetic diversity and male infertility

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

Genetic dissection of the AZF regions of the human Y chromosome: thriller or filler for male (in)fertility?

No evidence for an mtDNA role in sperm motility: data from complete sequencing of asthenozoospermic males

CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: Identification of two novel mutations and characterization of four different partial gene conversions

Human mtDNA haplogroups and reduced male fertility: real association or hidden population substructuring

Characterizing partial AZFc deletions of the Y chromosome with amplicon-specific sequence markers

The expression of tubulin cofactor A (TBCA) is regulated by a noncoding antisense Tbca RNA during testis maturation.

Mutation C11994T in the mitochondrial ND4 gene is not a cause of low sperm motility in Portugal

Congenital adrenal hyperplasia: focus on the molecular basis of 21-hydroxylase deficiency.

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

Besnoitia besnoiti and Toxoplasma gondii: two apicomplexan strategies to manipulate the host cell centrosome and Golgi apparatus.

Revisiting the tubulin folding pathway: new roles in centrosomes and cilia

Modulation of translation factor's gene expression by histone deacetylase inhibitors in breast cancer cells.

X-linked adrenal hypoplasia congenita: clinical and follow-up findings of two kindreds, one with a novel NR0B1 mutation

Late onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency: revision of literature and preconception genetic study of five couples

The NEMP family supports metazoan fertility and nuclear envelope stiffness

A systematic proximity map of the centriole-cilia interface.

Screening for Y chromosome sequences in patients with Turner syndrome

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

PROS1 novel splice-site variant decreases protein S expression in patients from two families with thrombotic disease