List of works - Patrice Roll

A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy

scientific article published on 25 April 2016

A New Lamin A Mutation Associated with Acrogeria Syndrome

scientific article published on 01 April 2014

An overview of treatment strategies for Hutchinson-Gilford Progeria syndrome.

scientific article published in January 2018

Chronic use of proton pump inhibitors, adverse events and potential biological mechanisms: A translational analysis

scientific article published on 14 October 2017

Combined search for anti-beta2-glycoprotein I and anticardiolipin antibodies in antiphospholipid syndrome: contribution to diagnosis

scientific article published on 01 September 2004

Complete loss of the cytoplasmic carboxyl terminus of the KCNQ2 potassium channel: a novel mutation in a large Czech pedigree with benign neonatal convulsions or other epileptic phenotypes

scientific article

Correction: HIV Protease Inhibitors Do Not Cause the Accumulation of Prelamin A in PBMCs from Patients Receiving First Line Therapy: The ANRS EP45 “Aging” Study.

scientific article published on 14 August 2013

Cytogenetic study of six cases of radiation-induced meningiomas.

scientific article published in April 2001

Cytology-based treatment decision in primary lung cancer: is it accurate enough?

scientific article published on 05 October 2011

Deletions of chromosomes 1p and 19q are detectable on frozen smears of gliomas by FISH: usefulness for stereotactic biopsies

scientific article published on 01 June 2004

Detection of EGFR, KRAS and BRAF mutations in metastatic cells from cerebrospinal fluid

scientific article published on 8 January 2018

Detection of EpCAM-positive microparticles in pleural fluid: A new approach to mini-invasively identify patients with malignant pleural effusions.

scientific article published on 12 December 2015

Epilepsy and ionic channels

scientific article

Epileptic and developmental disorders of the speech cortex: ligand/receptor interaction of wild-type and mutant SRPX2 with the plasminogen activator receptor uPAR

scientific article

Functional variant in complement C3 gene promoter and genetic susceptibility to temporal lobe epilepsy and febrile seizures

scientific article

Genetics of infantile seizures with paroxysmal dyskinesia: the infantile convulsions and choreoathetosis (ICCA) and ICCA-related syndromes.

scientific article

HIV protease inhibitors do not cause the accumulation of prelamin A in PBMCs from patients receiving first line therapy: the ANRS EP45 "aging" study

scientific article

HIV-1 infection and first line ART induced differential responses in mitochondria from blood lymphocytes and monocytes: the ANRS EP45 "Aging" study

scientific article (publication date: 2012)

High prevalence of laminopathies among patients with metabolic syndrome

scientific article published on 30 June 2011

Identification of CD146 as a novel molecular actor involved in systemic sclerosis

scientific article published on 09 June 2017

Infantile convulsions with paroxysmal dyskinesia (ICCA syndrome) and copy number variation at human chromosome 16p11.

scientific article

Large-scale expression study of human mesial temporal lobe epilepsy: evidence for dysregulation of the neurotransmission and complement systems in the entorhinal cortex.

scientific article published on 6 January 2006

Low lamin A expression in lung adenocarcinoma cells from pleural effusions is a pejorative factor associated with high number of metastatic sites and poor Performance status.

scientific article published on 14 August 2017

MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies

scientific article

Molecular and fluorescence in situ hybridization analysis of a 10;11 rearrangement in a case of infant acute monocytic leukemia

scientific article

Molecular cytogenetics of t(X;1)(p11.2;q21) with complex rearrangements in a renal cell carcinoma

scientific article published in November 2000

Molecular evolution of the human SRPX2 gene that causes brain disorders of the Rolandic and Sylvian speech areas

scientific article

Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex

scientific article

Morphology quiz: Mediastinal adenopathy cytology from endobronchial ultrasound transbronchial aspiration (EBUS-TBNA).

scientific article

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

scientific article published on 15 December 2011

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

scientific article

New human sodium/glucose cotransporter gene (KST1): identification, characterization, and mutation analysis in ICCA (infantile convulsions and choreoathetosis) and BFIC (benign familial infantile convulsions) families

scientific article (publication date: 20 February 2002)

Novel LMNA Mutation in Atypical Werner Syndrome Presenting With Ischemic Disease

scientific article published on 18 December 2008

Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome

scientific article published on 17 August 2010

Nuclear localization of a novel human syntaxin 1B isoform

scientific journal article

Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective.

scientific article published on 22 March 2014

SRPX2 mutations in disorders of language cortex and cognition

scientific article

Severe epilepsy, retardation, and dysmorphic features with a 2q deletion including SCN1A and SCN2A

scientific article

Truncated prelamin A expression in HGPS-like patients: a transcriptional study.

scientific article published on 4 February 2015

[Role of DNA microarrays in the diagnosis of pleural exudates: a feasibility study]

scientific article published on 01 September 2007

microRNA deregulation in Hutchinson-Gilford Progeria.

scientific article published on 11 November 2015

List of works by Patrice Roll

A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy

A New Lamin A Mutation Associated with Acrogeria Syndrome

An overview of treatment strategies for Hutchinson-Gilford Progeria syndrome.

Chronic use of proton pump inhibitors, adverse events and potential biological mechanisms: A translational analysis

Combined search for anti-beta2-glycoprotein I and anticardiolipin antibodies in antiphospholipid syndrome: contribution to diagnosis

Complete loss of the cytoplasmic carboxyl terminus of the KCNQ2 potassium channel: a novel mutation in a large Czech pedigree with benign neonatal convulsions or other epileptic phenotypes

Correction: HIV Protease Inhibitors Do Not Cause the Accumulation of Prelamin A in PBMCs from Patients Receiving First Line Therapy: The ANRS EP45 “Aging” Study.

Cytogenetic study of six cases of radiation-induced meningiomas.

Cytology-based treatment decision in primary lung cancer: is it accurate enough?

Deletions of chromosomes 1p and 19q are detectable on frozen smears of gliomas by FISH: usefulness for stereotactic biopsies

Detection of EGFR, KRAS and BRAF mutations in metastatic cells from cerebrospinal fluid

Detection of EpCAM-positive microparticles in pleural fluid: A new approach to mini-invasively identify patients with malignant pleural effusions.

Epilepsy and ionic channels

Epileptic and developmental disorders of the speech cortex: ligand/receptor interaction of wild-type and mutant SRPX2 with the plasminogen activator receptor uPAR

Functional variant in complement C3 gene promoter and genetic susceptibility to temporal lobe epilepsy and febrile seizures

Genetics of infantile seizures with paroxysmal dyskinesia: the infantile convulsions and choreoathetosis (ICCA) and ICCA-related syndromes.

HIV protease inhibitors do not cause the accumulation of prelamin A in PBMCs from patients receiving first line therapy: the ANRS EP45 "aging" study

HIV-1 infection and first line ART induced differential responses in mitochondria from blood lymphocytes and monocytes: the ANRS EP45 "Aging" study

High prevalence of laminopathies among patients with metabolic syndrome

Identification of CD146 as a novel molecular actor involved in systemic sclerosis

Infantile convulsions with paroxysmal dyskinesia (ICCA syndrome) and copy number variation at human chromosome 16p11.

Large-scale expression study of human mesial temporal lobe epilepsy: evidence for dysregulation of the neurotransmission and complement systems in the entorhinal cortex.

Low lamin A expression in lung adenocarcinoma cells from pleural effusions is a pejorative factor associated with high number of metastatic sites and poor Performance status.

MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies

Molecular and fluorescence in situ hybridization analysis of a 10;11 rearrangement in a case of infant acute monocytic leukemia

Molecular cytogenetics of t(X;1)(p11.2;q21) with complex rearrangements in a renal cell carcinoma

Molecular evolution of the human SRPX2 gene that causes brain disorders of the Rolandic and Sylvian speech areas

Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex

Morphology quiz: Mediastinal adenopathy cytology from endobronchial ultrasound transbronchial aspiration (EBUS-TBNA).

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

New human sodium/glucose cotransporter gene (KST1): identification, characterization, and mutation analysis in ICCA (infantile convulsions and choreoathetosis) and BFIC (benign familial infantile convulsions) families

Novel LMNA Mutation in Atypical Werner Syndrome Presenting With Ischemic Disease

Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome

Nuclear localization of a novel human syntaxin 1B isoform

Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective.

SRPX2 mutations in disorders of language cortex and cognition

Severe epilepsy, retardation, and dysmorphic features with a 2q deletion including SCN1A and SCN2A

Truncated prelamin A expression in HGPS-like patients: a transcriptional study.

[Role of DNA microarrays in the diagnosis of pleural exudates: a feasibility study]

microRNA deregulation in Hutchinson-Gilford Progeria.