List of works - Paul Laissue

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

scientific article published on 02 March 2020

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

scientific article

A first description of the Colombian national registry for rare diseases

scientific article published on 26 October 2017

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

scientific article published on 3 August 2014

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

scientific article published on 24 May 2017

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

scientific article

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

scientific article published on 4 April 2013

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

scientific article published on 5 February 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

scientific article published on 17 March 2017

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

scientific article published in February 2013

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

scientific article

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

scientific article published in October 2016

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

scientific article published in March 2017

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

scientific article published on 8 June 2009

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

scientific article published on 12 August 2014

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

scientific article

CITED2 mutations potentially cause idiopathic premature ovarian failure.

scientific article published on 16 June 2012

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

scientific article

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

scientific article published on 06 January 2016

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

scientific article published on 01 August 2008

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

scientific article

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

scientific article

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

scientific article published on 6 November 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.

scientific article published on 7 May 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

scientific article published on 8 August 2008

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

scientific article

Genomic Medicine in Developing Countries and Resource-Limited Environments

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

scientific article published on 19 April 2012

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

scientific article

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

scientific article published on 01 January 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

scientific article published on February 2010

Mouse models for identifying genes modulating fertility parameters ⬇️

scientific article published on January 1, 2009

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

scientific article published on 14 October 2019

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

scientific article (publication date: May 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

scientific article published on 13 May 2017

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

scientific article published on 16 May 2015

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

scientific article published on 10 October 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

scientific article

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

scientific article published on 29 May 2012

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

scientific article published on 17 October 2013

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

scientific article

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

scientific article

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

scientific article published on 2 December 2011

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

scientific article published on 04 September 2007

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

scientific article

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

scientific article

Speckle reduction using an artificial neural network algorithm ⬇️

scientific article published on July 20, 2013

Success stories in genomic medicine from resource-limited countries

scientific article published on 18 June 2015

THBD sequence variants potentially related to recurrent pregnancy loss

scientific article published in December 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

scientific article

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.

scientific article published on 8 March 2018

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

scientific article published on 12 August 2016

Undertreatment strongly decreases prognosis of breast cancer in elderly women

scientific article published on 11 August 2003

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

scientific article

List of works by 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