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Lista de obras de Damien Sanlaville

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

artículo científico publicado en 2012

12q13.12q13.13 microdeletion encompassing ACVRL1 and SCN8A genes: Clinical report of a new contiguous gene syndrome

article

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations

artículo científico publicado en 2018

16q12.2q21: A new susceptibility locus for schizophrenia?

artículo científico publicado en 2016

17p13.1 microdeletion involving the TP53 gene in a boy presenting with mental retardation but no tumor.

artículo científico publicado en 2010

A 14q distal chromoanagenesis elucidated by whole genome sequencing

artículo científico publicado en 2019

A CGH study of 27 patients with CHARGE association

artículo científico publicado en 2002

A Case of Trisomy 13 Mosaicism Presenting with a Severe Aortic Root Dilatation and Marfanoid Habitus due to an Unpredictable Cytogenetic Mechanism

scientific article published on 18 March 2020

A Distinct Class of Chromoanagenesis Events Characterized by Focal Copy Number Gains.

artículo científico publicado en 2016

A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled Patients

artículo científico publicado en 2016

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

artículo científico publicado en 2017

A framework to identify modifier genes in patients with Phelan-McDermid syndrome

article

A new case of a severe clinical phenotype of the cat-eye syndrome.

artículo científico publicado en 2004

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

artículo científico publicado en 2010

A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency

artículo científico publicado en 2014

A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay

scientific article published on 24 September 2018

A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion

artículo científico publicado en 2014

A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease

artículo científico publicado en 2007

A novel disorder of sex development, characterized by progressive regression of testicular function and cystic leukoencephalopathy

artículo científico publicado en 2017

A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation.

artículo científico publicado en 2004

A novel homozygous truncating mutation of the SFRP4 gene in Pyle's disease

scientific article published on 16 January 2017

A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants

artículo científico publicado en 2019

A novel telomeric (approximately 285 kb) α-thalassemia deletion leading to a phenotypically unusual HbH disease

artículo científico publicado en 2009

A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset

scientific article published on 15 July 2019

A preliminary study to assess the value of the DNA chips SpectralChip to detect subtle constitutional chromosome imbalances

artículo científico publicado en 2004

A proposed diagnostic approach for infantile spasms based on a spectrum of variable aetiology.

artículo científico publicado en 2013

A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2.

artículo científico publicado en 2013

A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field.

artículo científico publicado en 2015

Acute lymphocytic leukaemia in a child with Beckwith-Wiedemann syndrome harbouring a CDKN1C mutation.

artículo científico publicado en 2010

Additive Effect of Variably Penetrant 22q11.2 Duplication and Pathogenic Mutations in Autism Spectrum Disorder: To Which Extent Does the Tree Hide the Forest?

artículo científico publicado en 2018

An 800  kb deletion at 17q23.2 including the MED13 (THRAP1) gene, revealed by aCGH in a patient with a SMC 17p

artículo científico publicado en 2011

Anatomical and functional abnormalities on MRI in kabuki syndrome.

artículo científico publicado en 2018

Approche diagnostique du sujet présentant un retard mental sévère et syndromique

artículo científico publicado en 2004

Array-CGH study of partial trisomy 9p without mental retardation

artículo científico publicado en 2011

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

artículo científico publicado en 2006

Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism

scientific article published on 01 November 2019

Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA

artículo científico publicado en 2011

Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature

artículo científico publicado en 2004

Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature

artículo científico publicado en 2017

Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiency

article

Behavioral disturbance and treatment strategies in Smith-Magenis syndrome

artículo científico publicado en 2015

Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene

artículo científico publicado en 2012

Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations.

artículo científico publicado en 2013

CHARGE syndrome: an update

artículo científico publicado en 2007

Cell complementation using Genebridge 4 human:rodent hybrids for physical mapping of novel mitochondrial respiratory chain deficiency genes

artículo científico publicado en 2002

Centralization errors in comparative genomic hybridization array analysis of pituitary tumor samples.

artículo científico publicado en 2018

Changes in clinical practice related to the arrival of next-generation sequencing in the genetic diagnosis of developmental diseases

artículo científico publicado en 2018

Characterization of a de novo Supernumerary Neocentric Ring Chromosome Derived from Chromosome 7.

artículo científico publicado en 2015

Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations

artículo científico publicado en 2018

Childhood apraxia of speech without intellectual deficit in a patient with cri du chat syndrome

artículo científico publicado en 2012

Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report

scientific article published on 08 January 2020

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

artículo científico publicado en 2016

Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France

artículo científico publicado en 2019

Chromosomal microarray analysis of functional Xq27-qter disomy and deletion 3p26.3 in a boy with Prader-Willi like features and hypotonia.

artículo científico publicado en 2012

Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease

artículo científico publicado en 2013

Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation

artículo científico publicado en 2010

Clinical and molecular characterization of a combined 17p13.3 microdeletion with partial monosomy 21q21.3 in a 26-year-old man.

artículo científico publicado en 2011

Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: six new patients

artículo científico publicado en 2015

Clinical and molecular cytogenetic characterization of four unrelated patients carrying 2p14 microdeletions

artículo científico publicado en 2017

Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization

artículo científico publicado en 2019

Clinical and molecular overlap in overgrowth syndromes

artículo científico publicado en 2005

Clinical and molecular spectrum of renal malformations in Kabuki syndrome

artículo científico publicado en 2013

Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation

article

Clinical overlap of OFD type IX with Pallister-Killian syndrome (tetrasomy 12p)

artículo científico publicado en 2003

Comment on "Trisomy 21 noninvasive prenatal testing for twin pregnancies"

artículo científico publicado en 2019

Comparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovA.

artículo científico publicado en 2015

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

artículo científico publicado en 2019

Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl.

artículo científico publicado en 2014

Complex phenotype with social communication disorder caused by mosaic supernumerary ring chromosome 19p.

artículo científico publicado en 2014

Congenital hyperinsulinism and mosaic abnormalities of the ploidy

artículo científico publicado en 2005

Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes

artículo científico publicado en 2006

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability

artículo científico publicado en 2017

Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay

scientific article published on 01 September 2019

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases

artículo científico publicado en 2009

Cytogenetic investigation of a child with a mosaic isochromosome 18q and ring 18q.

artículo científico publicado en 2007

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

artículo científico publicado en 2017

De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features

artículo científico publicado en 2011

De novo inverted duplication 9p21pter involving telomeric repeated sequences.

artículo científico publicado en 1999

Delineation of 15q13.3 microdeletions.

artículo científico publicado en 2010

Detection of rare autosomal trisomies through non-invasive prenatal testing: benefits for pregnancy management

scientific article published on 01 January 2019

Direct visualization of the highly polymorphic RNU2 locus in proximity to the BRCA1 gene.

artículo científico publicado en 2013

Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux

artículo científico publicado en 2007

Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development

artículo científico publicado en 2011

Distal Xq duplication and functional Xq disomy.

artículo científico publicado en 2009

Diversity of hepatocellular carcinoma clones bearing hematopoietic malignancies-related chromosomal translocation

artículo científico publicado en 2014

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

artículo científico publicado en 2018

Early-onset autoimmunity associated with SOCS1 haploinsufficiency

artículo científico publicado en 2020

Electrical status epilepticus in sleep, a constitutive feature of Christianson syndrome?

scientific article published on 21 July 2018

Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism

artículo científico publicado en 2012

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome

scientific article published on 01 July 2019

Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

scientific article published on 26 August 2019

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

artículo científico publicado en 2020

Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation

artículo científico publicado en 2005

Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes

artículo científico publicado en 2020

Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)

scientific article published on 01 February 2019

Expression patterns of ERVWE1/Syncytin-1 and other placentally expressed human endogenous retroviruses along the malignant transformation process of hydatidiform moles.

artículo científico publicado en 2016

Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome

artículo científico publicado en 2005

Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability

artículo científico publicado en 2007

Familial X/Y Translocation Encompassing ARSE in Two Moroccan Siblings with Sensorineural Deafness

artículo científico publicado en 2017

Fine characterisation of a recombination hotspot at the DPY19L2 locus and resolution of the paradoxical excess of duplications over deletions in the general population

artículo científico publicado en 2013

Finger creases lend a hand in Kabuki syndrome.

artículo científico publicado en 2013

Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome

scientific article published on 28 August 2020

Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster

artículo científico publicado en 2019

Functional disomy of Xp including duplication ofDAX1gene with sex reversal due to t(X;Y)(p21.2;p11.3)

article

Functional disomy of the Xq28 chromosome region

artículo científico publicado en 2005

Functional variants of POC5 identified in patients with idiopathic scoliosis

artículo científico publicado en 2015

Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients

artículo científico publicado en 2010

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

artículo científico publicado en 2018

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction

artículo científico publicado en 2013

Genetic Counselling Pitfall: Co-Occurrence of an 11.8-Mb Xp22 Duplication and an Xp21.2 Duplication Disrupting IL1RAPL1.

artículo científico publicado en 2017

Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.

artículo científico publicado en 2016

Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey

artículo científico publicado en 2015

Genetic testing in the context of the revision of the French law on bioethics

artículo científico publicado en 2010

Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization

scientific article published on 27 January 2020

Genome-wide arrays: quality criteria and platforms to be used in routine diagnostics

artículo científico publicado en 2012

Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation.

artículo científico publicado en 2004

Genomic Microarray in Intellectual Disability: The Usefulness of Existing Systems in the Interpretation of Copy Number Variation

artículo científico publicado en 2016

Growth charts in Kabuki syndrome 1

artículo científico publicado en 2019

Guidelines for molecular karyotyping in constitutional genetic diagnosis

artículo científico publicado en 2007

Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations

article

HBB loss of heterozygosity in the hemopoietic lineage gives rise to an unusual sickle-cell trait phenotype.

artículo científico publicado en 2012

Heterozygous Bile Salt Export Pump Deficiency: A Possible Genetic Predisposition to Transient Neonatal Cholestasis

artículo científico publicado en 2006

Homozygous PKP2 deletion associated with neonatal left ventricle noncompaction

artículo científico publicado en 2016

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis

scientific article published on 12 July 2019

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

artículo científico publicado en 2019

Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family history.

artículo científico publicado en 2014

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

artículo científico publicado en 2010

Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disability.

artículo científico publicado en 2013

Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome

artículo científico publicado en 2006

Jacobsen and Beckwith-Wiedemann syndromes in a child with mosaicism for partial 11pter trisomy and partial 11qter monosomy

artículo científico publicado en 2013

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis ⬇️

artículo científico publicado en 2017

La CGH microarray : principe et applications en pathologie constitutionnelle

article

Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

artículo científico publicado en 2016

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype

artículo científico publicado en 2018

Major feeding difficulties in the first reported case of interstitial 20q11.22-q12 microdeletion and molecular cytogenetic characterization.

artículo científico publicado en 2006

Mandibular-Pelvic-Patellar syndrome (MPP) is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability

artículo científico publicado en 2020

Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism and clinical follow up.

artículo científico publicado en 2000

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments

artículo científico publicado en 2014

Microarray Analysis of 8p23.1 Deletion in New Patients with Atypical Phenotypical Traits

artículo científico publicado en 2015

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

artículo científico publicado en 2004

Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech

artículo científico publicado en 2010

Mild phenotype in a 15-year-old boy with Pallister-Killian syndrome

artículo científico publicado en 2003

Milk kinship is not an obstacle to using donor human milk to feed preterm infants in Muslim countries.

artículo científico publicado en 2015

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

artículo científico publicado en 2011

Molecular Characterization of a Familial 13.6-Mb 20p11.1p12.1 Duplication without Clinical Consequence

scientific article published on 05 April 2019

Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature

artículo científico

Molecular and phenotypic characterization of ring chromosome 22 in two unrelated patients

artículo científico publicado en 2013

Molecular characterisation of a prenatally diagnosed 5q15q21.3 deletion and review of the literature

artículo científico publicado en 2006

Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study.

artículo científico publicado en 2013

Molecular characterization of a cohort of 73 patients with infantile spasms syndrome.

artículo científico publicado en 2014

Molecular cytogenetic and phenotypic characterization of ring chromosome 13 in three unrelated patients

artículo científico publicado en 2013

Molecular cytogenetic characterization of five F8 complex rearrangements: utility for haemophilia A genetic counselling.

artículo científico publicado en 2017

Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder.

artículo científico publicado en 2019

Molecular karyotyping in human constitutional cytogenetics

artículo científico publicado en 2005

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations

artículo científico publicado en 2017

Monosomy 19pter and trisomy 19q13-qter in two siblings arising from a maternal pericentric inversion: clinical data and molecular characterization.

artículo científico publicado en 2008

Mosaic 18q21.2 deletions including the TCF4 gene: a clinical report

artículo científico publicado en 2012

Multiple congenital anomalies-intellectual disability (MCA-ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletion

artículo científico publicado en 2014

Multisystem disorders, severe developmental delay and seizures in two affected siblings, expanding the phenotype of PIGC deficiency

scientific article published on 21 July 2020

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

artículo científico publicado en 2016

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life

artículo científico publicado en 2014

NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome.

artículo científico publicado en 2004

Neonatal tremor episodes and hyperekplexia-like presentation at onset in a child with SCN8A developmental and epileptic encephalopathy

artículo científico publicado en 2018

Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasia.

artículo científico publicado en 2013

No evidence of unbalanced growth-related gene inheritance in a series of overgrowth syndrome patients

article

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

scientific article published on 23 November 2011

Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy

artículo científico publicado en 2017

Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment

artículo científico publicado en 2020

PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine

artículo científico publicado en 2012

Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome

artículo científico publicado en 2004

Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties

artículo científico publicado en 2005

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.

artículo científico publicado en 2017

Phenotype and micro-array characterization of duplication 11q22.1-q25 and review of the literature

artículo científico publicado en 2013

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

artículo científico publicado en 2020

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.

artículo científico publicado en 2005

Postnatal clinical phenotype of five patients with Pallister-Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature

artículo científico publicado en 2019

Prenatal Diagnosis of Trisomy 2p due to Terminal 2p Duplication including Interstitial Telomeric Sequences

scientific article published on 22 December 2017

Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy

artículo científico publicado en 2019

Prenatal diagnosis and molecular characterization of an interstitial 1q24.2q25.2 deletion.

artículo científico publicado en 2006

Prenatal diagnosis and normal outcome of a 46,XX/46,XY chimera: a case report.

artículo científico publicado en 2007

Prenatal diagnosis of 'isolated' Dandy-Walker malformation: imaging findings and prenatal counselling

artículo científico publicado en 2012

Prenatal microarray comparative genomic hybridization: Experience from the two first years of activity at the Lyon university-hospital

artículo científico publicado en 2017

Prenatal overgrowth and mosaic trisomy 15q25-qter including the IGF1 receptor gene

artículo científico publicado en 2004

Pure proximal deletion of chromosome 21 and kyphosis

Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion

artículo científico publicado en 2015

Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.

artículo científico publicado en 2016

Regressive Autism Spectrum Disorder Expands the Phenotype of BSCL2/Seipin-Associated Neurodegeneration

scientific article published on 24 August 2018

Reinforcement of STAT3 activity reprogrammes human embryonic stem cells to naive-like pluripotency.

artículo científico publicado en 2015

Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation

artículo científico publicado en 2015

Renal abnormalities in Down syndrome: A review

artículo científico publicado en 2017

Reply to Salviati et al.

artículo científico publicado en 2006

Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

scientific article published on 19 August 2019

Screening for subtelomeric rearrangements using automated fluorescent genotyping of microsatellite markers: a Lebanese study

artículo científico publicado en 2005

Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.

artículo científico publicado en 2012

Secondary findings from next generation sequencing: Psychological and ethical issues. Family and patient perspectives

scientific article published on 29 June 2019

Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature

artículo científico publicado en 2018

Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity

artículo científico publicado en 2007

Severe hemophilia A caused by an unbalanced chromosomal rearrangement identified using nanopore sequencing

artículo científico publicado en 2019

Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

artículo científico publicado en 2017

Sex gap in aging and longevity: can sex chromosomes play a role?

artículo científico publicado en 2018

Spectral karyotyping (SKY) principle, avantages and limitations

artículo científico publicado en 2003

Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlation.

artículo científico publicado en 2008

Statistical method to compare massive parallel sequencing pipelines

artículo científico publicado en 2017

Study of six patients with complete F9 deletion characterized by cytogenetic microarray: role of the SOX3 gene in intellectual disability.

artículo científico publicado en 2016

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

artículo científico publicado en 2008

Supravalvular Aortic Stenosis Caused by a Familial Chromosome 7 Inversion Disrupting the ELN Gene Uncovered by Whole-Genome Sequencing

artículo científico publicado en 2019

TWIST microdeletion identified by array CGH in a patient presenting Saethre-Chotzen phenotype and a complex rearrangement involving chromosomes 2 and 7

article

The C20orf133 gene is disrupted in a patient with Kabuki syndrome

scientific journal article

The C20orf133 gene is disrupted in a patient with Kabuki syndrome

artículo científico publicado en 2009

The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia

artículo científico publicado en 2014

The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.

artículo científico publicado en 2018

The psychological impact of cryptic chromosomal abnormalities diagnosis announcement.

artículo científico publicado en 2013

The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability

artículo científico publicado en 2017

Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome?

artículo científico publicado en 2005

Unexpected diagnosis of 45,X/47,XX,+18 mosaicism in a girl with mild phenotype

artículo científico publicado en 2009

Unusual clinical severity of complement membrane cofactor protein-associated hemolytic-uremic syndrome and uniparental isodisomy

artículo científico publicado en 2007

West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1

artículo científico publicado en 2015

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

scientific article published on 28 March 2019

Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.

artículo científico publicado en 2015

Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature

artículo científico

Xp22.3 interstitial deletion: a recognizable chromosomal abnormality encompassing VCX3A and STS genes in a patient with X-linked ichthyosis and mental retardation

artículo científico publicado en 2013

[Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes].

artículo científico publicado en 2006

[Elaboration of a national biobank for the study of gestational trophoblastic diseases]

artículo científico publicado en 2015

[Genetic tools]

artículo científico publicado en 2011

[Microlissencephaly due to pathogenic variants of NDE1: from pathology to normal brain development]

scientific article published on 07 October 2020

[New chromosomal syndromes]

artículo científico publicado en 2008

[New technologies for the human genome exploration]

scientific article published on 16 September 2010

[Smith-Magenis syndrome is an association of behavioral and sleep/wake circadian rhythm disorders]

artículo científico publicado en 2015

[Trisomy 21 by isochromosome: a case report of true false negative of chorionic villi sampling]

artículo científico publicado en 2011

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