Damien Sanlaville
Sanlaville, Damien, 1969-....
![Sudoc [ABES], France](/viaf/images/flags/SUDOC.png "Sudoc [ABES], France")
Sanlaville, Damien
VIAF ID: 216053566 (Personal)
Permalink: http://viaf.org/viaf/216053566
Preferred Forms
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Damien Sanlaville
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Sanlaville
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Damien
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1969-....
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100 1 _
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Sanlaville, Damien
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100 1 _ ‡a Sanlaville, Damien, ‡d 1969-
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100 1 _
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Sanlaville, Damien,
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1969-....
4xx's: Alternate Name Forms (2)
Works
| Title | Sources |
|---|---|
| Analyse chromosomique sur puce à ADN en période prénatale : expérience des deux premières années d'activité au CHU de Lyon |
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| Apport du séquençage haut débit dans l'amélioration de la prise en charge des maladies monogéniques |
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| Apport du séquençage nouvelle génération dans l'identification des bases moléculaires impliquées dans les anomalies du développement d'expression anténatale |
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| Aspects cliniques, cytogénétiques et moléculaires du syndrome CHARGE |
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| Caractérisation de 10 marqueurs chromosomiques surnuméraires (MCS) : apport de l’hybridation génomique comparative sur microréseau (CHG-ARRAY) |
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| Caractérisation des CNV dans les troubles du spectre autistique : identification de nouveaux gènes et analyses fonctionnelles |
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| Characterization of the CNV in the autism spectrum disorders : identification of new genes and functional analysis. |
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| La déficience intellectuelle : du diagnostic en puces ADN à l'identification de gènes candidats |
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| DNA next generation sequencing to identify genetics abnormalities involved in developmental disorders with prenatal onset. |
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| Etude clinique et génétique des anomalies du corps calleux chez le foetus |
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| Étude moléculaire du syndrome des spasmes infantiles et des épilepsies familiales benignes |
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| Evaluation de la qualité de vie chez 17 enfants porteurs de trisomie 21 âgés de 6 à 12 ans : utilisation du questionnaire AUQUEI et comparaison avec une cohorte d'enfants transplantés hépatiques |
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| Génétique médicale enseignement thématique |
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| Human genetic susceptibility to infectious disease : NEMO and NRAMP1 deficiencies. |
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| Identification of genes implicated in childhood epilepsies. |
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| Implication of the IRXB cluster genes in the anterior segment ocular dysgenesis. |
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| Intellectual disability : from microarray diagnosis to the identification of candidate genes. |
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| Le macrosatellite RNU2 : caractérisation, évolution et lien avec la prédisposition génétique au cancer du sein |
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| Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus |
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| Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature |
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| Molecular and phenotypic characterization of ring chromosome 22 in two unrelated patients |
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| Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study. |
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| Molecular Characterization of a Familial 13.6-Mb 20p11.1p12.1 Duplication without Clinical Consequence |
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| Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations |
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| Molecular cytogenetic characterization of five F8 complex rearrangements: utility for haemophilia A genetic counselling. |
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| Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder. |
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| Monosomy 19pter and trisomy 19q13-qter in two siblings arising from a maternal pericentric inversion: clinical data and molecular characterization. |
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| Mosaic 18q21.2 deletions including the TCF4 gene: a clinical report |
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| Multimodal exploration of human genome sequencing to solve the unsolved rare diseases. |
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| Multiple congenital anomalies-intellectual disability (MCA-ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletion |
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| Multisystem disorders, severe developmental delay and seizures in two affected siblings, expanding the phenotype of PIGC deficiency |
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| Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2. |
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| Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life |
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| Neonatal tremor episodes and hyperekplexia-like presentation at onset in a child with SCN8A developmental and epileptic encephalopathy |
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| Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasia. |
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| A new case of a severe clinical phenotype of the cat-eye syndrome. |
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| A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. |
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| [New technologies for the human genome exploration] |
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| No evidence of unbalanced growth-related gene inheritance in a series of overgrowth syndrome patients |
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| A novel disorder of sex development, characterized by progressive regression of testicular function and cystic leukoencephalopathy. |
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| A novel homozygous truncating mutation of the SFRP4 gene in Pyle's disease |
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| A novel telomeric (approximately 285 kb) α-thalassemia deletion leading to a phenotypically unusual HbH disease |
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| De novo inverted duplication 9p21pter involving telomeric repeated sequences. |
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| De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. |
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| 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 |
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| Pédiatrie |
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| Phenotype and micro-array characterization of duplication 11q22.1-q25 and review of the literature |
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| Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. |
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| Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy |
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| Prenatal diagnosis and molecular characterization of an interstitial 1q24.2q25.2 deletion. |
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| Prenatal Diagnosis of Trisomy 2p due to Terminal 2p Duplication including Interstitial Telomeric Sequences |
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| Prenatal overgrowth and mosaic trisomy 15q25-qter including the IGF1 receptor gene |
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| Profile of specific proteins expression in the development of the human adrenal and application to the pathology (hypoplasia adrenal congenital). |
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| A proposed diagnostic approach for infantile spasms based on a spectrum of variable aetiology. |
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| The psychological impact of cryptic chromosomal abnormalities diagnosis announcement. |
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| Pure proximal deletion of chromosome 21 and kyphosis |
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| RECHERCHE D'ANOMALIES DANS L'ASSOCIATION CHARGE PAR CYTOGENETIQUE MOLECULAIRE |
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| Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion |
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| Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome. |
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| Regressive Autism Spectrum Disorder Expands the Phenotype of BSCL2/Seipin-Associated Neurodegeneration |
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| Reinforcement of STAT3 activity reprogrammes human embryonic stem cells to naive-like pluripotency. |
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| Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation |
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| Remaniements chromosomiques complexes : de la caractérisation aux conséquences fonctionnelles |
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| Renal abnormalities in Down syndrome: A review |
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| Reply to Salviati et al. |
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| 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? |
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| The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability |
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| Screening for subtelomeric rearrangements using automated fluorescent genotyping of microsatellite markers: a Lebanese study |
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| Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1. |
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| Secondary findings from next generation sequencing: Psychological and ethical issues. Family and patient perspectives |
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| Sécurisation de la thérapie génique par CRISPR-Cas9 dans les pathologies du globule rouge |
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| Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity |
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| Severe hemophilia A caused by an unbalanced chromosomal rearrangement identified using nanopore sequencing |
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| Sex gap in aging and longevity: can sex chromosomes play a role? |
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| [Spectral karyotyping (SKY) principle, avantages and limitations] |
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| Statistical method to compare massive parallel sequencing pipelines |
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| A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2. |
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| Supravalvular Aortic Stenosis Caused by a Familial Chromosome 7 Inversion Disrupting the ELN Gene Uncovered by Whole-Genome Sequencing |
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| Susceptibilité mendélienne aux maladies infectieuses chez l'homme : déficits en NEMO et NRAMP1 |
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| A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field. |
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| [Trisomy 21 by isochromosome: a case report of true false negative of chorionic villi sampling] |
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| Unusual clinical severity of complement membrane cofactor protein-associated hemolytic-uremic syndrome and uniparental isodisomy |
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| Variations introniques profondes dans l'hémophilie : identification et description des mécanismes physiopathologiques |
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| Vers une utilisation optimale du génotypage et des scores de gravité dans la prise en charge de la drépanocytose |
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| West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1 |
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| Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. |
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| Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders |
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| Xp22.3 interstitial deletion: a recognizable chromosomal abnormality encompassing VCX3A and STS genes in a patient with X-linked ichthyosis and mental retardation |
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