Lista de obras -

A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features.

artículo científico publicado en 2012

A severe prenatal presentation of Cat Eye Syndrome

artículo científico publicado en 2013

Azoospermia and trisomy 18p syndrome: a fortuitous association? A patient report and a review of the literature

artículo científico

Can Ratios Between Prognostic Factors Predict the Clinical Pregnancy Rate in an IVF/ICSI Program with a GnRH Agonist-FSH/hMG Protocol? An Assessment of 2421 Embryo Transfers, and a Review of the Literature

scientific article published on 04 September 2020

Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: six new patients

artículo científico publicado en 2015

Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion

artículo científico publicado en 2005

Comparative prospective study of 2 ovarian stimulation protocols in poor responders: effect on implantation rate and ongoing pregnancy

artículo científico publicado en 2015

Comparison of two preventive treatments for patients with recurrent miscarriages carrying a C677T methylenetetrahydrofolate reductase mutation: 5-year experience

artículo científico publicado en 2017

Contribution of Electronic Medical Records to the Management of Rare Diseases

artículo científico publicado en 2015

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases

artículo científico publicado en 2009

Different Levels of DNA Methylation Detected in Human Sperms after Morphological Selection Using High Magnification Microscopy

artículo científico publicado en 2016

Effect of Gonadotropin Types and Indications on Homologous Intrauterine Insemination Success: A Study from 1251 Cycles and a Review of the Literature.

artículo científico publicado en 2017

Emerging molecular methods for male infertility investigation

artículo científico publicado en 2013

Follicular fluid and supernatant from cultured cumulus-granulosa cells improve in vitro maturation in patients with polycystic ovarian syndrome

artículo científico publicado en 2018

From global proteome profiling to single targeted molecules of follicular fluid and oocyte: contribution to embryo development and IVF outcome.

artículo científico

Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH.

artículo científico publicado en 2009

Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: a family report.

artículo científico publicado en 2015

How to overcome male infertility after 40: Influence of paternal age on fertility

artículo científico publicado en 2014

Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia ⬇️

artículo científico publicado el 22 de agosto de 2010

Impact of oocytes with CLCG on ICSI outcomes and their potential relation to pesticide exposure

artículo científico publicado en 2017

Impact of sperm genome decay on Day-3 embryo chromosomal abnormalities from advanced-maternal-age patients

artículo científico publicado en 2015

Intrauterine insemination of cultured peripheral blood mononuclear cells prior to embryo transfer improves clinical outcome for patients with repeated implantation failures

artículo científico publicado en 2015

Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements

artículo científico publicado en 2014

Management of infertility in women over 40.

artículo científico publicado en 2014

Mitochondria: participation to infertility as source of energy and cause of senescence

artículo científico publicado en 2014

New intragenic rearrangements in non-Finnish mulibrey nanism

artículo científico publicado en 2017

Paternal age: Negative impact on sperm genome decays and IVF outcomes after 40 years.

artículo científico publicado en 2018

Physiopathology of human embryonic implantation: clinical incidences

artículo científico publicado en 2009

Predictive factors for pregnancy after intrauterine insemination (IUI): an analysis of 1038 cycles and a review of the literature

artículo científico publicado en 2010

Severe psychomotor delay in a severe presentation of cat-eye syndrome

artículo científico publicado en 2015

Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: two cases and expansion of the phenotype to radial agenesis

artículo científico publicado en 2012

Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins

artículo científico publicado en 2005

Visual development in infants: physiological and pathological mechanisms

artículo científico publicado en 2011

[Intrauterine insemination]

artículo científico publicado en 2014

Lista de obras de

A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features.

A severe prenatal presentation of Cat Eye Syndrome

Azoospermia and trisomy 18p syndrome: a fortuitous association? A patient report and a review of the literature

Can Ratios Between Prognostic Factors Predict the Clinical Pregnancy Rate in an IVF/ICSI Program with a GnRH Agonist-FSH/hMG Protocol? An Assessment of 2421 Embryo Transfers, and a Review of the Literature

Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: six new patients

Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion

Comparative prospective study of 2 ovarian stimulation protocols in poor responders: effect on implantation rate and ongoing pregnancy

Comparison of two preventive treatments for patients with recurrent miscarriages carrying a C677T methylenetetrahydrofolate reductase mutation: 5-year experience

Contribution of Electronic Medical Records to the Management of Rare Diseases

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases

Different Levels of DNA Methylation Detected in Human Sperms after Morphological Selection Using High Magnification Microscopy

Effect of Gonadotropin Types and Indications on Homologous Intrauterine Insemination Success: A Study from 1251 Cycles and a Review of the Literature.

Emerging molecular methods for male infertility investigation

Follicular fluid and supernatant from cultured cumulus-granulosa cells improve in vitro maturation in patients with polycystic ovarian syndrome

From global proteome profiling to single targeted molecules of follicular fluid and oocyte: contribution to embryo development and IVF outcome.

Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH.

Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: a family report.

How to overcome male infertility after 40: Influence of paternal age on fertility

Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia ⬇️

Impact of oocytes with CLCG on ICSI outcomes and their potential relation to pesticide exposure

Impact of sperm genome decay on Day-3 embryo chromosomal abnormalities from advanced-maternal-age patients

Intrauterine insemination of cultured peripheral blood mononuclear cells prior to embryo transfer improves clinical outcome for patients with repeated implantation failures

Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements

Management of infertility in women over 40.

Mitochondria: participation to infertility as source of energy and cause of senescence

New intragenic rearrangements in non-Finnish mulibrey nanism

Paternal age: Negative impact on sperm genome decays and IVF outcomes after 40 years.

Physiopathology of human embryonic implantation: clinical incidences

Predictive factors for pregnancy after intrauterine insemination (IUI): an analysis of 1038 cycles and a review of the literature

Severe psychomotor delay in a severe presentation of cat-eye syndrome

Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: two cases and expansion of the phenotype to radial agenesis

Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins

Visual development in infants: physiological and pathological mechanisms

[Intrauterine insemination]