Lista de obras - Paul Laissue - Dominio Público Uruguay

A Pharmacogenomic Dissection of a Rosuvastatin-Induced Rhabdomyolysis Case Evokes the Polygenic Nature of Adverse Drug Reactions

artículo científico publicado en 2020

A de novo 14q12q13.3 interstitial deletion in a patient affected by a severe neurodevelopmental disorder of unknown origin

artículo científico publicado en 2012

A first description of the Colombian national registry for rare diseases

artículo científico publicado en 2017

A high resolution map of mammalian X chromosome fragile regions assessed by large-scale comparative genomics

artículo científico publicado en 2014

A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency

artículo científico publicado en 2017

A novel BMP15 variant, potentially affecting the signal peptide, in a familial case of premature ovarian failure

artículo científico publicado en 2009

A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations

artículo científico publicado en 2013

A novel method for quantified, superresolved, three-dimensional colocalisation of isotropic, fluorescent particles.

artículo científico publicado en 2013

A novel mutation in KHDRBS1 in a patient affected by primary ovarian insufficiency

A potential functional association between mutant BMPR2 and primary ovarian insufficiency

artículo científico publicado en 2017

A severe familial phenotype of Ichthyosis Curth-Macklin caused by a novel mutation in the KRT1 gene.

artículo científico publicado en 2013

Aetiological coding sequence variants in non-syndromic premature ovarian failure: From genetic linkage analysis to next generation sequencing

artículo científico publicado en 2015

Anomalies des récepteurs des bone morphogenic proteins : une nouvelle cause d’insuffisance ovarienne primaire

scholarly article by L. Renault et al published September 2018 in Annales d'Endocrinologie

Association of FOXD1 variants with adverse pregnancy outcomes in mice and humans

artículo científico publicado en 2016

BMP15 Mutations Associated With Primary Ovarian Insufficiency Reduce Expression, Activity, or Synergy With GDF9.

artículo científico publicado en 2017

BMP15 and premature ovarian failure: causal mutations, variants, polymorphisms?

artículo científico publicado en 2009

BMP15 c.-9C>G promoter sequence variant may contribute to the cause of non-syndromic premature ovarian failure.

artículo científico publicado en 2014

Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability.

artículo científico publicado en 2015

CITED2 mutations potentially cause idiopathic premature ovarian failure.

artículo científico publicado en 2012

Centimorgan-range one-step mapping of fertility traits using interspecific recombinant congenic mice

artículo científico publicado en 2007

Copy number variation profiling in pharmacogenetics CYP-450 and GST genes in Colombian population

scientific article published on 19 July 2019

Current needs for human and medical genomics research infrastructure in low and middle income countries

artículo científico

Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients

artículo científico publicado en 2008

Endothelial cell dysfunction and cardiac hypertrophy in the STOX1 model of preeclampsia

artículo científico publicado en 2016

Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis

artículo científico publicado en 2014

Expressional and epigenetic alterations of placental serine protease inhibitors: SERPINA3 is a potential marker of preeclampsia

artículo científico publicado en 2006

FOXD1 mutations are related to repeated implantation failure, intra-uterine growth restriction and preeclampsia

scientific article published on 08 August 2019

Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2.

artículo científico publicado en 2009

Functional evidence implicating NOTCH2 missense mutations in primary ovarian insufficiency aetiology

article

Genetic analysis of premature ovarian failure: role of forkhead and TGF-beta genes

artículo científico publicado en 2008

Genome-wide linkage in a highly consanguineous pedigree reveals two novel loci on chromosome 7 for non-syndromic familial Premature Ovarian Failure

artículo científico publicado en 2012

Genomic Medicine in Developing Countries and Resource-Limited Environments

Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease

artículo científico publicado en 2012

Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome.

artículo científico publicado en 2008

Identification of Quantitative Trait Loci responsible for embryonic lethality in mice assessed by ultrasonography

artículo científico publicado en 2009

Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2

Improving the evaluation of milestones for students completing a clinical genetics elective

article

Interspecific resources: a major tool for quantitative trait locus cloning and speciation research

artículo científico publicado en 2010

Mouse models for identifying genes modulating fertility parameters ⬇️

artículo científico publicado el 1 de enero de 2009

Mutant GNLY is linked to Stevens-Johnson syndrome and toxic epidermal necrolysis

artículo científico publicado en 2019

Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure

artículo científico publicado en 2006

Mutations in the NOG gene are not a common cause of nonsyndromic premature ovarian failure

article

New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing

artículo científico

Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations.

artículo científico publicado en 2015

Novel genes and mutations in patients affected by recurrent pregnancy loss.

artículo científico publicado en 2017

OC-2a: Novel genes and mutations in patients with recurrent spontaneous abortion

article

P-015: Association of FOXD1 variants with pregnancy failures in mice and humans

scholarly article by Paul Laissue et al published March 2017 in Thrombosis Research

Partial defects in transcriptional activity of two novel DAX-1 mutations in childhood-onset adrenal hypoplasia congenita

article by Paul Laissue et al published November 2006 in Clinical Endocrinology

Polymorphisms of human placental alkaline phosphatase are associated with in vitro fertilization success and recurrent pregnancy loss

artículo científico publicado en 2013

Première mise en cause de l’autophagie dans l’étiologie de l’insuffisance ovarienne primaire

scholarly article by C. Delcour et al published September 2017 in Annales d'Endocrinologie

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

artículo científico publicado en 2012

Quantified colocalization reveals heterotypic histocompatibility class I antigen associations on trophoblast cell membranes: relevance for human pregnancy

artículo científico publicado en 2013

Recent advances in the study of genes involved in non-syndromic premature ovarian failure

artículo científico publicado en 2007

Refined mapping of a quantitative trait locus on chromosome 1 responsible for mouse embryonic death.

artículo científico publicado en 2012

Screening for mutations of the FOXO4 gene in premature ovarian failure patients.

artículo científico publicado en 2011

Seminiferous tubule function in delayed-onset X-linked adrenal hypoplasia congenita associated with incomplete hypogonadotrophic hypogonadism

artículo científico publicado en 2007

Sequence analysis of the ADRA2A coding region in children affected by attention deficit hyperactivity disorder

artículo científico publicado en 2013

Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype.

artículo científico publicado en 2011

Speckle reduction using an artificial neural network algorithm ⬇️

artículo científico publicado el 20 de julio de 2013

Success stories in genomic medicine from resource-limited countries

artículo científico publicado en 2015

THBD sequence variants potentially related to recurrent pregnancy loss

artículo científico publicado en 2017

The forkhead-box family of transcription factors: key molecular players in colorectal cancer pathogenesis

scientific article published on 08 January 2019

The molecular complexity of primary ovarian insufficiency aetiology and the use of massively parallel sequencing

artículo científico publicado en 2017

The multisystemic functions of FOXD1 in development and disease

article

Transcriptomic analysis of FUCA1 knockdown in keratinocytes reveals new insights in the pathogenesis of fucosidosis skin lesions.

artículo científico publicado en 2018

Transcriptomic analysis of skin in a case of ichthyosis Curth-Macklin caused by a KRT1 mutation.

artículo científico publicado en 2016

Undertreatment strongly decreases prognosis of breast cancer in elderly women

artículo científico publicado en 2003

Whole-exome sequencing enables rapid determination of xeroderma pigmentosum molecular etiology

artículo científico publicado en 2013

Lista de obras de Paul Laissue

A Pharmacogenomic Dissection of a Rosuvastatin-Induced Rhabdomyolysis Case Evokes the Polygenic Nature of Adverse Drug Reactions

A de novo 14q12q13.3 interstitial deletion in a patient affected by a severe neurodevelopmental disorder of unknown origin

A first description of the Colombian national registry for rare diseases

A high resolution map of mammalian X chromosome fragile regions assessed by large-scale comparative genomics

A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency

A novel BMP15 variant, potentially affecting the signal peptide, in a familial case of premature ovarian failure

A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations

A novel method for quantified, superresolved, three-dimensional colocalisation of isotropic, fluorescent particles.

A novel mutation in KHDRBS1 in a patient affected by primary ovarian insufficiency

A potential functional association between mutant BMPR2 and primary ovarian insufficiency

A severe familial phenotype of Ichthyosis Curth-Macklin caused by a novel mutation in the KRT1 gene.

Aetiological coding sequence variants in non-syndromic premature ovarian failure: From genetic linkage analysis to next generation sequencing

Anomalies des récepteurs des bone morphogenic proteins : une nouvelle cause d’insuffisance ovarienne primaire

Association of FOXD1 variants with adverse pregnancy outcomes in mice and humans

BMP15 Mutations Associated With Primary Ovarian Insufficiency Reduce Expression, Activity, or Synergy With GDF9.

BMP15 and premature ovarian failure: causal mutations, variants, polymorphisms?

BMP15 c.-9C>G promoter sequence variant may contribute to the cause of non-syndromic premature ovarian failure.

Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability.

CITED2 mutations potentially cause idiopathic premature ovarian failure.

Centimorgan-range one-step mapping of fertility traits using interspecific recombinant congenic mice

Copy number variation profiling in pharmacogenetics CYP-450 and GST genes in Colombian population

Current needs for human and medical genomics research infrastructure in low and middle income countries

Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients

Endothelial cell dysfunction and cardiac hypertrophy in the STOX1 model of preeclampsia

Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis

Expressional and epigenetic alterations of placental serine protease inhibitors: SERPINA3 is a potential marker of preeclampsia

FOXD1 mutations are related to repeated implantation failure, intra-uterine growth restriction and preeclampsia

Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2.

Functional evidence implicating NOTCH2 missense mutations in primary ovarian insufficiency aetiology

Genetic analysis of premature ovarian failure: role of forkhead and TGF-beta genes

Genome-wide linkage in a highly consanguineous pedigree reveals two novel loci on chromosome 7 for non-syndromic familial Premature Ovarian Failure

Genomic Medicine in Developing Countries and Resource-Limited Environments

Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease

Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome.

Identification of Quantitative Trait Loci responsible for embryonic lethality in mice assessed by ultrasonography

Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2

Improving the evaluation of milestones for students completing a clinical genetics elective

Interspecific resources: a major tool for quantitative trait locus cloning and speciation research

Mouse models for identifying genes modulating fertility parameters ⬇️

Mutant GNLY is linked to Stevens-Johnson syndrome and toxic epidermal necrolysis

Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure

Mutations in the NOG gene are not a common cause of nonsyndromic premature ovarian failure

New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing

Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations.

Novel genes and mutations in patients affected by recurrent pregnancy loss.

OC-2a: Novel genes and mutations in patients with recurrent spontaneous abortion

P-015: Association of FOXD1 variants with pregnancy failures in mice and humans

Partial defects in transcriptional activity of two novel DAX-1 mutations in childhood-onset adrenal hypoplasia congenita

Polymorphisms of human placental alkaline phosphatase are associated with in vitro fertilization success and recurrent pregnancy loss

Première mise en cause de l’autophagie dans l’étiologie de l’insuffisance ovarienne primaire

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

Quantified colocalization reveals heterotypic histocompatibility class I antigen associations on trophoblast cell membranes: relevance for human pregnancy

Recent advances in the study of genes involved in non-syndromic premature ovarian failure

Refined mapping of a quantitative trait locus on chromosome 1 responsible for mouse embryonic death.

Screening for mutations of the FOXO4 gene in premature ovarian failure patients.

Seminiferous tubule function in delayed-onset X-linked adrenal hypoplasia congenita associated with incomplete hypogonadotrophic hypogonadism

Sequence analysis of the ADRA2A coding region in children affected by attention deficit hyperactivity disorder

Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype.

Speckle reduction using an artificial neural network algorithm ⬇️

Success stories in genomic medicine from resource-limited countries

THBD sequence variants potentially related to recurrent pregnancy loss

The forkhead-box family of transcription factors: key molecular players in colorectal cancer pathogenesis

The molecular complexity of primary ovarian insufficiency aetiology and the use of massively parallel sequencing

The multisystemic functions of FOXD1 in development and disease

Transcriptomic analysis of FUCA1 knockdown in keratinocytes reveals new insights in the pathogenesis of fucosidosis skin lesions.

Transcriptomic analysis of skin in a case of ichthyosis Curth-Macklin caused by a KRT1 mutation.

Undertreatment strongly decreases prognosis of breast cancer in elderly women

Whole-exome sequencing enables rapid determination of xeroderma pigmentosum molecular etiology