Lista de obras - Thomy de Ravel - Dominio Público Uruguay

"Opitz C syndrome and pseudohypoaldosteronism" is caused by a chromosome 4q deletion

scientific article published on 01 June 2009

2q31.1 microdeletion syndrome: redefining the associated clinical phenotype

scientific article published on 10 November 2010

A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome

artículo científico publicado en 2005

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

artículo científico publicado en 2006

A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors.

artículo científico publicado en 2013

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion

artículo científico publicado en 2009

Accuracy and Clinical Value of Maternal Incidental Findings During Noninvasive Prenatal Testing for Fetal Aneuploidies

Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies

artículo científico publicado en 2016

An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients.

artículo científico publicado en 2015

Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome

artículo científico publicado en 2009

Array comparative genomic hybridization as a diagnostic tool for syndromic heart defects.

artículo científico publicado en 2010

Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors

artículo científico publicado en 2011

BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.

artículo científico publicado en 2012

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

artículo científico publicado en 2006

BCAP31-related syndrome: The first de novo report

artículo científico publicado en 2019

Brachydactyly type B with its distinct facies and 'Cooks syndrome' are the same entity.

artículo científico publicado en 1999

Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

scholarly article published in Nature Genetics

Deletion and point mutations of PTHLH cause brachydactyly type E.

artículo científico publicado en 2010

Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience.

artículo científico publicado en 2018

Diffuse Choroidal Atrophy in a Boy With Klinefelter Syndrome ⬇️

artículo científico publicado el 1 de enero de 2011

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

artículo científico publicado en 2010

Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome

scientific article published on 21 February 2009

Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations

artículo científico publicado en 2011

Fetal pyelectasis and corkscrew-shaped ureters: an association observed in postmortem fetal imaging studies of osteochondrodysplasia and trisomy 21

artículo científico publicado en 2012

First report of CFTR mutations in black cystic fibrosis patients of southern African origin

artículo científico publicado en 1996

Follow-up of adult males with chromosome 18p deletion

artículo científico publicado en 2005

Genetic mapping of the FACC gene and linkage analysis in Fanconi anaemia families

artículo científico publicado en 1994

Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes

artículo científico publicado en 2010

Genome-wide haplotyping embryos developing from 0PN and 1PN zygotes increases transferrable embryos in PGT-M

scholarly article by Aspasia Destouni et al published 31 October 2018 in Human Reproduction

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)

artículo científico publicado en 2007

Hemifacial microsomia in two patients further supporting chromosomal mosaicism as a causative factor ⬇️

artículo científico publicado el 1 de octubre de 2001

Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene

artículo científico publicado en 1999

High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformations

artículo científico publicado en 2011

High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients

artículo científico publicado en 2010

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

artículo científico publicado en 2008

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome

artículo científico publicado en 2007

Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.

artículo científico publicado en 2014

Implementation of Fetal Clinical Exome Sequencing: Comparing Prospective and Retrospective Cohorts

artículo científico publicado en 2022

Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts

artículo científico publicado en 2021

Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges

artículo científico

Long-term effect of gene therapy on Leber's congenital amaurosis

artículo científico publicado en 2015

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

artículo científico publicado en 2010

Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence

artículo científico publicado en 2017

Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening

scientific article published on 14 June 2019

Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1.

artículo científico publicado en 2009

Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis

artículo científico publicado en 2006

Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features

artículo científico publicado en 2015

Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa

artículo científico publicado en 2001

Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation

artículo científico publicado en 2008

Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene

article

Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

artículo científico publicado en 2017

Nature of the visual loss in observers with Leber's congenital amaurosis caused by specific mutations in RPE65.

artículo científico publicado en 2014

Neurofibromatosis type 1-related pseudarthrosis: Beyond the pseudarthrosis site

scientific article published on 18 June 2019

Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills ⬇️

artículo científico publicado el 16 de mayo de 2012

Next-generation sequencing in prenatal setting: Some examples of unexpected variant association

artículo científico publicado en 2020

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

artículo científico publicado en 2015

Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management

artículo científico publicado en 2015

Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics

artículo científico publicado en 2014

Novel mutations and polymorphisms in the Fanconi anemia group C gene

artículo científico publicado en 1996

PPP2R2C, a gene disrupted in autosomal dominant intellectual disability

artículo científico publicado en 2010

Partial duplications of the ATRX gene cause the ATR-X syndrome

artículo científico publicado en 2007

Peculiar fundus abnormalities and pathognomonic electrophysiological findings in a 14-month-old boy with NR2E3 mutations

artículo científico publicado en 2012

Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.

scientific article published on May 2013

Post-zygotic origin of isochromosome 12p

scientific article published on 01 December 2004

Postmortem fetal imaging of a metabolic pluricystic kidney disease

scientific article published on 13 October 2011

Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing.

artículo científico publicado en 2018

Presenting symptoms in adults with the 22q11 deletion syndrome

artículo científico publicado en 2014

Principles guiding embryo selection following genome-wide haplotyping of preimplantation embryos

artículo científico publicado en 2017

Pulmonary arterio-venous malformations in a patient with a novel mutation in exon 10 of the ACVRL1 gene

artículo científico publicado en 2014

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

artículo científico publicado en 2008

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

artículo científico publicado en 2014

Rer1p maintains ciliary length and signaling by regulating γ-secretase activity and Foxj1a levels

artículo científico publicado en 2013

Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant

artículo científico publicado en 2009

Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion

scientific article published on 29 January 2014

Spectral sensitivity measurements reveal partial success in restoring missing rod function with gene therapy

artículo científico publicado en 2015

Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients

artículo científico publicado en 2007

Subtelomeric imbalances in phenotypically normal individuals

artículo científico publicado en 2007

The ICF syndrome: new case and update

artículo científico publicado en 2001

The Pallister-Killian syndrome is reliably diagnosed by FISH on buccal mucosa

artículo científico publicado en 2000

The clinical relevance of intragenic NRXN1 deletions

artículo científico publicado en 2020

The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement

artículo científico publicado en 2008

The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56

scientific article published on 28 January 2020

The obstetrician's dilemma during delivery of the very-low-birth-weight infant

artículo científico publicado el 4 de abril de 1992

Trisomy 18 with total cranio-rachischisis and thoraco-abdominoschisis

artículo científico publicado en 1999

Trisomy 8 mosaicism: a further five cases illustrating marked clinical and cytogenetic variability

artículo científico publicado el 1 de enero de 1998

Trisomy of chromosome 16p13.3 due to an unbalanced insertional translocation into chromosome 22p13.

artículo científico publicado en 2005

Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations

artículo científico publicado en 2010

Unconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathy

artículo científico publicado en 2005

What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH).

artículo científico publicado en 2007

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders

scientific article published on 28 March 2019

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness

artículo científico publicado en 2012

Lista de obras de Thomy de Ravel

"Opitz C syndrome and pseudohypoaldosteronism" is caused by a chromosome 4q deletion

2q31.1 microdeletion syndrome: redefining the associated clinical phenotype

A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors.

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion

Accuracy and Clinical Value of Maternal Incidental Findings During Noninvasive Prenatal Testing for Fetal Aneuploidies

Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies

An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients.

Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome

Array comparative genomic hybridization as a diagnostic tool for syndromic heart defects.

Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors

BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

BCAP31-related syndrome: The first de novo report

Brachydactyly type B with its distinct facies and 'Cooks syndrome' are the same entity.

Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

Deletion and point mutations of PTHLH cause brachydactyly type E.

Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience.

Diffuse Choroidal Atrophy in a Boy With Klinefelter Syndrome ⬇️

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome

Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations

Fetal pyelectasis and corkscrew-shaped ureters: an association observed in postmortem fetal imaging studies of osteochondrodysplasia and trisomy 21

First report of CFTR mutations in black cystic fibrosis patients of southern African origin

Follow-up of adult males with chromosome 18p deletion

Genetic mapping of the FACC gene and linkage analysis in Fanconi anaemia families

Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes

Genome-wide haplotyping embryos developing from 0PN and 1PN zygotes increases transferrable embryos in PGT-M

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)

Hemifacial microsomia in two patients further supporting chromosomal mosaicism as a causative factor ⬇️

Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene

High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformations

High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients

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

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome

Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.

Implementation of Fetal Clinical Exome Sequencing: Comparing Prospective and Retrospective Cohorts

Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts

Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges

Long-term effect of gene therapy on Leber's congenital amaurosis

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence

Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening

Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1.

Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis

Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features

Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa

Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation

Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene

Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

Nature of the visual loss in observers with Leber's congenital amaurosis caused by specific mutations in RPE65.

Neurofibromatosis type 1-related pseudarthrosis: Beyond the pseudarthrosis site

Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills ⬇️

Next-generation sequencing in prenatal setting: Some examples of unexpected variant association

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management

Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics

Novel mutations and polymorphisms in the Fanconi anemia group C gene

PPP2R2C, a gene disrupted in autosomal dominant intellectual disability

Partial duplications of the ATRX gene cause the ATR-X syndrome

Peculiar fundus abnormalities and pathognomonic electrophysiological findings in a 14-month-old boy with NR2E3 mutations

Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.

Post-zygotic origin of isochromosome 12p

Postmortem fetal imaging of a metabolic pluricystic kidney disease

Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing.

Presenting symptoms in adults with the 22q11 deletion syndrome

Principles guiding embryo selection following genome-wide haplotyping of preimplantation embryos

Pulmonary arterio-venous malformations in a patient with a novel mutation in exon 10 of the ACVRL1 gene

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

Rer1p maintains ciliary length and signaling by regulating γ-secretase activity and Foxj1a levels

Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant

Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion

Spectral sensitivity measurements reveal partial success in restoring missing rod function with gene therapy

Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients

Subtelomeric imbalances in phenotypically normal individuals

The ICF syndrome: new case and update

The Pallister-Killian syndrome is reliably diagnosed by FISH on buccal mucosa