S. Joriot

发表

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)

D. Keays, J. Flint, C. Fallet-Bianco, 2007, Human mutation.

Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations

L. Lagae, L. Hertz-Pannier, F. Rivier, 2008, Journal of Medical Genetics.

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

E. Bertini, C. Garel, R. Touraine, 2012, Orphanet Journal of Rare Diseases.

N. Boddaert, A. Toutain, N. Philip, 2009, Archives of neurology.

Recanalization Treatments for Pediatric Acute Ischemic Stroke in France

O. Naggara, G. Boulouis, A. Ozanne, 2022, JAMA network open.

Unusual clinical features in infantile Spinal Muscular Atrophies

L. Vallée, J. Cuisset, J. Cuvellier, 2008, Brain and Development.

Screening for neurodevelopmental disorders in children with congenital heart disease

T. Rakza, G. Vaksmann, V. Deken, 2019, European Journal of Pediatrics.

Postmeningitis subdural fluid collection in infants: changing pattern and indications for surgery.

S. Joriot, P. Jissendi-Tchofo, P. Dhellemmes, 2006, Journal of neurosurgery.

Antenatal diagnosis of a third ventricular mass: fetus in fetu or teratoma?

O. Kerdraon, M. Vinchon, S. Joriot, 2008, Child's Nervous System.

French General Practitioners' Management of Children's Migraine Headaches

L. Vallée, J. Cuisset, J. Cuvellier, 2007, Headache.

The location of DCX mutations predicts malformation severity in X-linked lissencephaly

N. Boddaert, C. Elie, J. Chelly, 2008, Neurogenetics.

[Ten practical issues concerning acute poisoning with carbon monoxide in pregnant women].

R. Favory, D. Mathieu, D. Subtil, 2014, Journal de gynecologie, obstetrique et biologie de la reproduction.

Highlighting the Dystonic Phenotype Related to GNAO1

N. Drouot, M. Vidailhet, L. Cif, 2022, Movement disorders : official journal of the Movement Disorder Society.

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

S. Auvin, T. Frebourg, N. Le Meur, 2009, Journal of Medical Genetics.

Ultrasound Diagnosis, Management and Prognosis in a Consecutive Series of 27 Cases of Fetal Hydrops following Maternal Parvovirus B19 Infection

D. Subtil, P. Vaast, Dominique Thomas, 2011, Fetal Diagnosis and Therapy.

The Richieri-Costa and Pereira form of acrofacial dysostosis: first case in a non-Brazilian infant.

N. Kacet, A. Moerman, S. Manouvrier-Hanu, 1999, American journal of medical genetics.

Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons.

B. Harding, P. Gressens, F. Di Cunto, 2016, American journal of human genetics.

Hydrops and fetal hypoplastic left heart: An unexpected improvement after cessation of maternal polysubstance abuse.

T. Rakza, S. Gautier, V. Houfflin-Debarge, 2018, Journal of gynecology obstetrics and human reproduction.

Comparison of seizure reduction and serum fatty acid levels after receiving the ketogenic and modified Atkins diet

L. Vallée, S. Auvin, J. Cuisset, 2009, Seizure.

Contribution of fetal brain MRI in management of severe fetal anemia.

P. Vaast, C. Coulon, V. Houfflin-Debarge, 2018, European Journal of Obstetrics, Gynecology, and Reproductive Biology.

[Neuropediatric approach to autism].

L. Vallée, S. Auvin, J. Cuisset, 2005, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Initiation of a systematic screening for neurodevelopmental disorder program for infants with congenital heart disease

L. Chaton, F. Godart, S. Joriot, 2022, Archives of Cardiovascular Diseases Supplements.

[Characteristics of tuberous sclerosis in children].

L. Vallée, J. Cuisset, J. Cuvellier, 2010, Archives de pédiatrie.

Phenotypic variability of prenatally presenting Gaucher's disease

A. Dieux, P. Vaast, P. Deruelle, 2013, Prenatal diagnosis.

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

Allison G. Dempsey, S. Spence, D. Ledbetter, 2012, Journal of Medical Genetics.

Use of EEG in neonatal hypoxic-ischemic encephalopathy: A French survey of current practice and perspective for improving health care

P. Derambure, M. Lamblin, L. Chaton, 2023, Neurophysiologie Clinique.

[Prenatal analysis of primary sulci by ultrasonography and MRI].

D. Subtil, J. Bigot, L. Devisme, 2012, Gynecologie, obstetrique & fertilite.

Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations

L. Lagae, L. Hertz-Pannier, F. Rivier, 2008, Journal of Medical Genetics.