Mário Sousa

Research interests

Publications

• Bioinformatics and Computational Tools for Next-Generation Sequencing Analysis in Clinical Genetics

  Journal of Clinical Medicine · 2020 · 10.3390/jcm9010132

• LAMA2gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes

  Human Mutation · 2018 · 10.1002/humu.23599

• Obesity, energy balance and spermatogenesis

  Reproduction · 2017 · 10.1530/rep-17-0018

• Fertility and Sperm Quality in the Aging Male

  Current Pharmaceutical Design · 2017 · 10.2174/1381612823666170503150313

• Major regulatory mechanisms involved in sperm motility

  Asian Journal of Andrology · 2015 · 10.4103/1008-682x.167716

• Antidiabetic Drugs: Mechanisms of Action and Potential Outcomes on Cellular Metabolism

  Current Pharmaceutical Design · 2015 · 10.2174/1381612821666150710145753

• Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene DMRT1

  PLoS Genetics · 2013 · https://doi.org/10.1371/journal.pgen.1003349

• DNA methylation imprinting marks and DNA methyltransferase expression in human spermatogenic cell stages

  Epigenetics · 2011 · 10.4161/epi.6.11.17993

• Effect of insulin deprivation on metabolism and metabolism-associated gene transcript levels of in vitro cultured human Sertoli cells

  Biochimica et Biophysica Acta (BBA) - General Subjects · 2011 · 10.1016/j.bbagen.2011.11.006

• Methylation defects of imprinted genes in human testicular spermatozoa

  Fertility and Sterility · 2009 · 10.1016/j.fertnstert.2009.02.051

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

  Molecular Human Reproduction · 2008 · https://doi.org/10.1093/molehr/gam093

• Copper induced alterations of biochemical parameters in the gill and plasma of Oreochromis niloticus

  Comparative Biochemistry and Physiology Part C Toxicology & Pharmacology · 2005 · 10.1016/j.cbpc.2005.08.002

• 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

  Human Reproduction · 2005 · 10.1093/humrep/deh653

• Genomic imprinting in disruptive spermatogenesis

  The Lancet · 2004 · https://doi.org/10.1016/s0140-6736(04)16256-9

• Developmental potential of human spermatogenic cells co-cultured with Sertoli cells

  Human Reproduction · 2002 · 10.1093/humrep/17.1.161

• Predictive value of testicular histology in secretory azoospermic subgroups and clinical outcome after microinjection of fresh and frozen-thawed sperm and spermatids

  Human Reproduction · 2002 · 10.1093/humrep/17.7.1800

• Unique (Y;13) translocation in a male with oligozoospermia: cytogenetic and molecular studies

  European Journal of Human Genetics · 2002 · 10.1038/sj.ejhg.5200835

• Key elements of a highly efficient intracytoplasmic sperm injection technique: Ca2+ fluxes and oocyte cytoplasmic dislocation

  Fertility and Sterility · 1995 · 10.1016/s0015-0282(16)57853-4

• More than 90% fertilization rates after intracytoplasmic sperm injection and artificial induction of oocyte activation with calcium ionophore

  Fertility and Sterility · 1995 · 10.1016/s0015-0282(16)57366-x

• Human oocyte activation after intracytoplasmic sperm injection

  Human Reproduction · 1994 · 10.1093/oxfordjournals.humrep.a138537

• Human oocyte activation after intracytoplasmic sperm injection

  Human Reproduction · 1994 · 10.1093/oxfordjournals.humrep.a138622

• Fertiliza1tion and early embryology: Ultrastructural analysis of fertilization failure after intracytoplasmic sperm injection

  Human Reproduction · 1994 · 10.1093/oxfordjournals.humrep.a138455

Current projects

No projects listed.