Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
…, P de Mas, E Bieth, B Rogé, D Héron… - Nature …, 2007 - nature.com
SHANK3 (also known as ProSAP2) regulates the structural organization of dendritic spines
and is a binding partner of neuroligins; genes encoding neuroligins are mutated in autism …
and is a binding partner of neuroligins; genes encoding neuroligins are mutated in autism …
Characterization of a Germ-Line Deletion, Including the Entire INK4/ARF Locus, in a Melanoma-Neural System Tumor Family: Identification of ANRIL, an Antisense Noncoding …
E Pasmant, I Laurendeau, D Héron, M Vidaud… - Cancer research, 2007 - AACR
We have previously detected a large germ-line deletion, which included the entire p15/CDKN2B-p16/CDKN2A-p14/ARF
gene cluster, in the largest melanoma-neural system tumor (…
gene cluster, in the largest melanoma-neural system tumor (…
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
…, K Kurosawa, H Ohashi, L Wilson, D Heron… - Nature …, 2006 - nature.com
Cardio-facio-cutaneous (CFC) syndrome is characterized by a distinctive facial appearance,
heart defects and mental retardation. It phenotypically overlaps with Noonan and Costello …
heart defects and mental retardation. It phenotypically overlaps with Noonan and Costello …
[HTML][HTML] Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments
SHANK genes code for scaffold proteins located at the post-synaptic density of glutamatergic
synapses. In neurons, SHANK2 and SHANK3 have a positive effect on the induction and …
synapses. In neurons, SHANK2 and SHANK3 have a positive effect on the induction and …
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11. 2 locus
…, A Guichet, O Guillin, AL Hartikainen, D Heron… - Nature, 2011 - nature.com
Both obesity and being underweight have been associated with increased mortality 1 , 2 .
Underweight, defined as a body mass index (BMI) ≤ 18.5 kg per m 2 in adults and ≤ −2 …
Underweight, defined as a body mass index (BMI) ≤ 18.5 kg per m 2 in adults and ≤ −2 …
Specific genetic disorders and autism: clinical contribution towards their identification
…, P Mazet, C Pinquier, A Verloes, D Héron - Journal of autism and …, 2005 - Springer
Autism is a heterogeneous disorder that can reveal a specific genetic disease. This paper
describes several genetic diseases consistently associated with autism (fragile X, tuberous …
describes several genetic diseases consistently associated with autism (fragile X, tuberous …
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum …
…, S Lyonnet, J Amiel, M Le Merrer, D Heron… - Journal of medical …, 2006 - jmg.bmj.com
Background: Autism spectrum disorders (ASD) refer to a broader group of neurobiological
conditions, pervasive developmental disorders. They are characterised by a symptomatic triad …
conditions, pervasive developmental disorders. They are characterised by a symptomatic triad …
[PDF][PDF] Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA
…, E Hanspal, C Schrander-Stumpel, D Héron… - The American journal of …, 2012 - cell.com
Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders
characterized by abnormal iron deposition in the basal ganglia. We report that de novo mutations …
characterized by abnormal iron deposition in the basal ganglia. We report that de novo mutations …
Key clinical features to identify girls with CDKL5 mutations
…, B Girard, C Cances, D Ville, A Afenjar, M Rio, D Héron… - Brain, 2008 - academic.oup.com
Mutations in the human X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been
shown to cause infantile spasms as well as Rett syndrome (RTT)-like phenotype. To date, …
shown to cause infantile spasms as well as Rett syndrome (RTT)-like phenotype. To date, …
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello …
…, E Pasmant, B Parfait, C Baumann, D Héron… - Journal of medical …, 2007 - jmg.bmj.com
Cardio-facio-cutaneous (CFC) syndrome, Noonan syndrome (NS), and Costello syndrome (CS)
are clinically related developmental disorders that have been recently linked to …
are clinically related developmental disorders that have been recently linked to …