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Lista de obras de João Gonçalves

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

scientific journal article

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

artículo científico publicado en 2014

A systematic proximity map of the centriole-cilia interface.

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

article

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

artículo científico publicado en 2007

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

artículo científico publicado en 2007

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

artículo científico publicado en 2020

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

artículo científico publicado en 2010

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

article

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

artículo científico publicado en 2011

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

artículo científico publicado en 2010

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

artículo científico publicado el 1 de enero de 2011

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

artículo científico publicado en 2005

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

artículo científico publicado en 2007

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

artículo científico publicado en 2007

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

artículo científico publicado en 2017

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

artículo científico

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

artículo científico publicado en 2010

The NEMP family supports metazoan fertility and nuclear envelope stiffness

artículo científico publicado en 2020

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

artículo científico publicado en 2012

[Screening for Y chromosome sequences in patients with Turner syndrome]

artículo científico publicado en 2002

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