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

Clinical genetics, 2016-02, Vol.89 (2), p.198-204

2016

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Fragile X syndrome: economic burden and health‐related quality of life of patients and caregivers in France

Journal of intellectual disability research, 2015-12, Vol.59 (12), p.1108-1120

2015

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Plea for an anatomical approach to abnormalities of the posterior fossa in prenatal diagnosis

Ultrasound in obstetrics & gynecology, 2006-05, Vol.27 (5), p.477-481

2006

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Developmental approach of executive functions: From infancy to adolescence

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2017-01, Vol.24 (1), p.66-72

2017

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Abnormal Sylvian fissure on prenatal cerebral imaging: significance and correlation with neuropathological and postnatal data

Ultrasound in obstetrics & gynecology, 2008-07, Vol.32 (1), p.50-60

2008

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Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia

Journal of medical genetics, 2007-11, Vol.44 (11), p.739-744

2007

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Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorder

Neurology, 2010-08, Vol.75 (7), p.641-645

2010

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High frequency of creatine deficiency syndromes in patients with unexplained mental retardation

Neurology, 2006-11, Vol.67 (9), p.1713-1714

2006

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A Novel CNS Gene Required for Neuronal Migration and Involved in X-Linked Subcortical Laminar Heterotopia and Lissencephaly Syndrome

Cell, 1998-01, Vol.92 (1), p.51-61

1998

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Simplified gyral pattern in severe developmental microcephalies? New insights from allometric modeling for spatial and spectral analysis of gyrification

NeuroImage (Orlando, Fla.), 2014-11, Vol.102 (2), p.317-331

2014

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Pineal region tumors: Clinical symptoms and syndromes

Neuro-chirurgie, 2015-04, Vol.61 (2), p.106-112

2015

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Herpes simplex encephalitis relapses in children: differentiation of two neurologic entities

Neurology, 2003-07, Vol.61 (2), p.241-243

2003

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Distortion of the anterior part of the interhemispheric fissure: significance and implications for prenatal diagnosis

Ultrasound in obstetrics & gynecology, 2014-03, Vol.43 (3), p.346-352

2014

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Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia

Neurology, 2005-11, Vol.65 (9), p.1364-1369

2005

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Prenatal cerebral ultrasound and MRI findings in glutaric aciduria Type 1: a de novo case

Ultrasound in obstetrics & gynecology, 2008-06, Vol.31 (6), p.712-714

2008

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Implicit procedural learning in fragile X and Down syndrome

Journal of intellectual disability research, 2011-05, Vol.55 (5), p.521-528

2011

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The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males

Clinical genetics, 2011-03, Vol.79 (3), p.225-235

2011

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A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation

Nature genetics, 2000-02, Vol.24 (2), p.167-170

2000

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Doublecortin Is the Major Gene Causing X-Linked Subcortical Laminar Heterotopia (SCLH)

Human molecular genetics, 1998-07, Vol.7 (7), p.1063-1070

1998

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Prenatal diagnosis of cerebellar cortical dysplasia associated with abnormalities of foliation

Ultrasound in obstetrics & gynecology, 2012-08, Vol.40 (2), p.243-244

2012

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

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2015-06, Vol.22 (6), p.638-645

2015

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Type 2 neurofibromatosis: intergenerational differences in genetic and clinical expression

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2014-11, Vol.21 (11), p.1233-1240

2014

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Neurological outcome and risk of recurrence depending on the anterior vs. posterior arterial distribution in children with stroke

Neuropediatrics, 2009-06, Vol.40 (3), p.126-128

2009

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Oil spills debris clean up by thermal desorption

Journal of hazardous materials, 2004-07, Vol.110 (1), p.161-171

2004

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

Fragile X syndrome: economic burden and health‐related quality of life of patients and caregivers in France

Plea for an anatomical approach to abnormalities of the posterior fossa in prenatal diagnosis

Developmental approach of executive functions: From infancy to adolescence

Abnormal Sylvian fissure on prenatal cerebral imaging: significance and correlation with neuropathological and postnatal data

Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia

Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorder

High frequency of creatine deficiency syndromes in patients with unexplained mental retardation

A Novel CNS Gene Required for Neuronal Migration and Involved in X-Linked Subcortical Laminar Heterotopia and Lissencephaly Syndrome

Simplified gyral pattern in severe developmental microcephalies? New insights from allometric modeling for spatial and spectral analysis of gyrification

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

Pineal region tumors: Clinical symptoms and syndromes

Herpes simplex encephalitis relapses in children: differentiation of two neurologic entities

Distortion of the anterior part of the interhemispheric fissure: significance and implications for prenatal diagnosis

Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia

Prenatal cerebral ultrasound and MRI findings in glutaric aciduria Type 1: a de novo case

Implicit procedural learning in fragile X and Down syndrome

The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males

A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation

Doublecortin Is the Major Gene Causing X-Linked Subcortical Laminar Heterotopia (SCLH)

Prenatal diagnosis of cerebellar cortical dysplasia associated with abnormalities of foliation

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

Type 2 neurofibromatosis: intergenerational differences in genetic and clinical expression

Neurological outcome and risk of recurrence depending on the anterior vs. posterior arterial distribution in children with stroke

Oil spills debris clean up by thermal desorption

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