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Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features
Marguerite Miguet
,
Laurence Faivre
,
Jeanne Amiel
,
Mathilde Nizon
,
Renaud Touraine
et al.
Article dans une revue
hal-02064139v1
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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
Christel Depienne
,
Caroline Nava
,
Boris Keren
,
Solveig Heide
,
Agnès Rastetter
et al.
Article dans une revue
hal-01502135v1
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In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome
Virginie Carmignac
,
Julie Thevenon
,
Lesley Ades
,
Bert Callewaert
,
Sophie Julia
et al.
Article dans une revue
hal-01670135v1
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Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies
Stephanie Valence
,
Emmanuelle Cochet
,
Christelle Rougeot
,
Catherine Garel
,
Sandra Chantot-Bastaraud
et al.
Article dans une revue
hal-01932802v1
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Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant
Chloé Angelini
,
Julien van Gils
,
Antoine Bigourdan
,
Pierre-Simon Jouk
,
Didier Lacombe
et al.
Article dans une revue
hal-01952641v1
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Delineating FOXG1 syndrome
Nancy Vegas
,
Mara Cavallin
,
Camille Maillard
,
Nathalie Boddaert
,
Joseph Toulouse
et al.
Article dans une revue
hal-01920261v1
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Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome
Pauline Arnaud
,
Nadine Hanna
,
Mélodie Aubart
,
Bruno Leheup
,
Sophie Dupuis-Girod
et al.
Article dans une revue
hal-01670201v1
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9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping
Sophie Nambot
,
Alice Masurel
,
Salima El Chehadeh
,
Anne-Laure Mosca-Boidron
,
Christel Thauvin-Robinet
et al.
Article dans une revue
hal-01400905v1
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The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients
Camille Leroy
,
Émilie Landais
,
Sylvain Briault
,
Albert David
,
Olivier Tassy
et al.
Article dans une revue
hal-01707770v1
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Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: A 7-year national survey
Mathilde Lefebvre
,
Damien Sanlaville
,
Nathalie Marle
,
Christel Thauvin-Robinet
,
Élodie Gautier
et al.
Article dans une revue
hal-01237103v1
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Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients
Salima El Chehadeh
,
Laurence Faivre
,
Anne-Laure Mosca-Boidron
,
Valérie Malan
,
Jeanne Amiel
et al.
Article dans une revue
istex
hal-01237099v1
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