Prominent publications by Sylvie Rossignol

KOL Index score: 16550

Genomic imprinting plays an important role in mammalian development. Loss of imprinting (LOI) through loss (LOM) or gain (GOM) of methylation is involved in many human disorders and cancers. The imprinted 11p15 region is crucial for the control of foetal growth and LOI at this locus is implicated in two clinically opposite disorders: Beckwith Wiedemann syndrome (BWS) with foetal overgrowth associated with an enhanced tumour risk and Russell-Silver syndrome (RSS) with intrauterine and ...

Also Ranks for: Beckwith Wiedemann |  russell silver |  multilocus methylation |  growth disorders |  large cohort
KOL Index score: 13970

BACKGROUND: Genomic imprinting refers to an epigenetic marking resulting in monoallelic gene expression and has a critical role in fetal development. Various imprinting diseases have recently been reported in humans and animals born after the use of assisted reproductive technology (ART). All the epimutations implicated involve a loss of methylation of the maternal allele (demethylation of KvDMR1/KCNQ1OT1 in Beckwith-Wiedemann syndrome (BWS), demethylation of SNRPN in Angelman syndrome ...

Also Ranks for: Wiedemann Syndrome |  assisted reproductive technology |  patients bws |  epigenetic imprinting |  abnormal methylation
KOL Index score: 13107

CONTEXT: Russell-Silver syndrome (RSS), characterized by intrauterine and postnatal growth retardation, dysmorphic features, and frequent body asymmetry, spares cranial growth. Maternal uniparental disomy for chromosome 7 (mUPD7) is found in 5-10% of cases. We identified loss of methylation (LOM) of 11p15 Imprinting Center Region 1 (ICR1) domain (including IGF-II) as a mechanism leading to RSS.

OBJECTIVE: The aim was to screen for 11p15 epimutation and mUPD7 in RSS and non-RSS ...

Also Ranks for: Clinical Scoring |  11p15 imprinting |  body asymmetry |  silver syndrome |  newborn infant
KOL Index score: 13040

The imprinted expression of the IGF2 and H19 genes is controlled by the imprinting control region 1 (ICR1) located at chromosome 11p15.5. This methylation-sensitive chromatin insulator works by binding the zinc-finger protein CTCF in a parent-specific manner. DNA methylation defects involving the ICR1 H19/IGF2 domain result in two growth disorders with opposite phenotypes: an overgrowth disorder, the Beckwith-Wiedemann syndrome (maternal ICR1 gain of methylation in 10% of BWS cases) and ...

Also Ranks for: Growth Disorders |  long noncoding rna |  h19 imprinting |  bws patients |  control region
KOL Index score: 11738

Sotos syndrome is an overgrowth syndrome characterized by pre- and postnatal overgrowth, macrocephaly, advanced bone age, variable degrees of mental retardation, and typical facial features. Defects of the NSD1 gene account for >or=60% of cases of Sotos syndrome, whereas the disease-causing mechanism of other cases remains unknown. Beckwith-Wiedemann syndrome (BWS) is a distinct overgrowth condition characterized by macroglossia, abdominal-wall defects, visceromegaly, embryonic tumors, ...

Also Ranks for: Sotos Syndrome |  nsd1 mutations |  long noncoding rna |  preschool chromosomes |  male mutation
KOL Index score: 11469

BACKGROUND: Russell Silver syndrome (RSS) leads to prenatal and postnatal growth retardation. About 55% of RSS patients present a loss-of-methylation of the paternal ICR1 domain on chromosome 11p15. CDKN1C is a cell proliferation inhibitor encoded by an imprinted gene in the 11p15 ICR2 domain. CDKN1C mutations lead to Beckwith Wiedemann syndrome (BWS, overgrowth syndrome) and in IMAGe syndrome which associates growth retardation and adrenal insufficiency. We searched for CDKN1C mutations ...

Also Ranks for: Cdkn1c Mutation |  russell silver |  growth retardation |  cell cycle |  syndrome rss
KOL Index score: 11230

The imprinted 11p15 region is organized in two domains, each of them under the control of its own imprinting control region (ICR1 for the IGF2/H19 domain and ICR2 for the KCNQ1OT1/CDKN1C domain). Disruption of 11p15 imprinting results in two fetal growth disorders with opposite phenotypes: the Beckwith-Wiedemann (BWS) and the Silver-Russell (SRS) syndromes. Various 11p15 genetic and epigenetic defects have been demonstrated in BWS and SRS. Among them, isolated DNA methylation defects ...

Also Ranks for: 11p15 Imprinting |  srs bws |  imprinted domains |  dna methylation |  icr1 icr2
KOL Index score: 10528

BACKGROUND: Apparently balanced chromosomal rearrangements (ABCR) are associated with an abnormal phenotype in 6% of cases. This may be due to cryptic genomic imbalances or to the disruption of genes at the breakpoint. However, breakpoint cloning using conventional methods (ie, fluorescent in situ hybridisation (FISH), Southern blot) is often laborious and time consuming. In this work, we used next generation sequencing (NGS) to locate breakpoints at the molecular level in four patients ...

Also Ranks for: Breakpoint Mapping |  generation sequencing |  congenital malformations |  balanced chromosome |  molecular level
KOL Index score: 9023

Isolated gain of methylation (GOM) at the IGF2/H19 imprinting control region 1 (ICR1) accounts for about 10% of patients with BWS. A subset of these patients have genetic defects within ICR1, but the frequency of these defects has not yet been established in a large cohort of BWS patients with isolated ICR1 GOM. Here, we carried out a genetic analysis in a large cohort of 57 BWS patients with isolated ICR1 GOM and analyzed the methylation status of the entire domain. We found a new point ...

Also Ranks for: Bws Patients |  imprinting control |  wiedemann syndrome |  genetic defects |  large cohort
KOL Index score: 8839

Context: Silver-Russell syndrome (SRS) (mainly secondary to 11p15 molecular disruption) and Temple syndrome (TS) (secondary to 14q32.2 molecular disruption) are imprinting disorders with phenotypic (prenatal and postnatal growth retardation, early feeding difficulties) and molecular overlap.

Objective: To describe the clinical overlap between SRS and TS and extensively study the molecular aspects of TS.

Patients: We retrospectively collected data on 28 patients with disruption of the ...

Also Ranks for: Patients Srs |  russell syndrome |  imprinted region |  clinical overlap |  molecular diagnosis
KOL Index score: 8837

Silver-Russell syndrome (SRS, OMIM 180860) is a congenital disorder characterized by severe intrauterine and postnatal growth retardation, dysmorphic facial features and body asymmetry. SRS is genetically heterogenous with maternal uniparental disomy with respect to chromosome 7 occurring in ∼10% of affected individuals. Given the crucial role of the 11p15 imprinted region in the control of fetal growth, we hypothesized that dysregulation of genes at 11p15 might be involved in syndromic ...

Also Ranks for: Long Noncoding Rna |  imprinting center |  chromosome 11p15 |  silverrussell syndrome |  growth retardation
KOL Index score: 8460

We report a child with Beckwith-Wiedemann syndrome (BWS) as the consequence of an apparently balanced, maternally inherited reciprocal translocation t(11;17)(p15.5;q21.3). His mother and aunt, who inherited the translocation from their father, did not have BWS. At birth, long QT syndrome (LQTS) was diagnosed in this child and, secondarily, among apparently healthy family members carrying the translocation. By FISH analysis, the breakpoint in 11p15.5 interrupts the KCNQ1 gene between ...

Also Ranks for: Wiedemann Syndrome |  kcnq1 gene |  human pair |  preschool chromosomes |  lqts bws
KOL Index score: 8284

Platinum catalysts (2.5 wt%) prepared by impregnation on pure commercial ceria and on Zr0.1(Ce0.75Pr0.25)0.9O2 sol–gel mixed oxide were synthesized and used for catalytic wet air oxidation (CWAO) of acetic acid. The influence of the platinum sintering (reducing treatment) was studied for both supports to modify the oxygen transfer from the gas phase onto the metallic active site of the catalyst and also to determine the effect of this treatment on the catalytic activity and stability. ...

Also Ranks for: Acetic Acid |  platinum catalysts |  air oxidation |  catalytic activity |  crystallite size
KOL Index score: 8100

Perlman syndrome is a rare overgrowth syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephro-blastomatosis, and predisposition to Wilms tumor (WT). We report on a newborn with prenatal sonographic signs of Perlman syndrome, large fetal ascites, nephromegaly and macrosomia. The clinical course was marked by neonatal distress, renal failure and refractory hypoxemia leading to death at 2 days of life. Renal ...

Also Ranks for: Perlman Syndrome |  wilms tumor |  fetal macrosomia |  gpc3 gene |  neonatal period
KOL Index score: 8075

Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder associating macroglossia, abdominal wall defects, visceromegaly, and a high risk of childhood tumor. Molecular anomalies are mostly epigenetic; however, mutations of CDKN1C are implicated in 8% of cases, including both sporadic and familial forms. We aimed to describe the phenotype of BWS patients with CDKN1C mutations and develop a functional test for CDKN1C mutations. For each propositus, we sequenced the three exons and ...

Also Ranks for: Wiedemann Syndrome |  cdkn1c mutations |  bws patients |  abdominal wall defects |  imprinting disorder

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Sylvie Rossignol:Expert Impact

Concepts for whichSylvie Rossignolhas direct influence:Alkaline solution,  Alkaline solutions,  Thermal resistance,  Geopolymer formation,  Mechanical properties,  Catalytic decomposition,  Wiedemann syndrome,  Russell silver.

Sylvie Rossignol:KOL impact

Concepts related to the work of other authors for whichfor which Sylvie Rossignol has influence:Compressive strength,  Fly ash,  Dna methylation,  Mechanical properties,  Wiedemann syndrome,  Thermal conductivity,  Genomic imprinting.



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