S. Defoort‐Dhellemmes

发表

A public hearing. "Shaken baby syndrome: guidelines on establishing a robust diagnosis and the procedures to be adopted by healthcare and social services staff". Scoping report.

T. Billette de Villemeur, J. Raul, S. Defoort-Dhellemmes, 2011, Annals of physical and rehabilitation medicine.

[Eye disorders in children and adolescents].

F. Mouriaux, F. Kochman, P. Parquet, 1997, Journal francais d'ophtalmologie.

Implicit and explicit object recognition at very large visual eccentricities: No improvement after loss of central vision

M. Fabre-Thorpe, M. Boucart, P. Despretz, 2010 .

Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene

P. Pennamen, J. Korobelnik, D. Bonneau, 2018, British Journal of Ophthalmology.

Unusual ocular motor findings in multiple sclerosis

P. Vermersch, C. Tilikete, S. Vukusic, 2006, Journal of the Neurological Sciences.

Short communication Unusual ocular motor findings in multiple sclerosis

P. Vermersch, C. Tilikete, S. Vukusic, 2006 .

Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.

I. Audo, C. Hamel, S. Defoort-Dhellemmes, 2014, Ophthalmology.

Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort.

J. Sahel, S. Mohand-Said, I. Audo, 2021, JAMA ophthalmology.

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.

Olivier Poch, Sabine Defoort-Dhellemmes, Xavier Zanlonghi, 2012, American journal of human genetics.

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.

T. Léveillard, J. Sahel, S. Jacobson, 2009, American journal of human genetics.

Juvenile Neuronal Ceroid Lipofuscinoses (JNCL)

S. Defoort‐Dhellemmes, 2014 .

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy

M. Votruba, C. La Morgia, P. Yu-Wai-Man, 2020, Neurology: Genetics.

Human Mutation

T. Rosenberg, F. Raymond, K. Carss, 2019 .

Accidental and nonaccidental head injuries in infants: a prospective study.

S. Defoort-Dhellemmes, M. Vinchon, M. Desurmont, 2005, Journal of neurosurgery.

[Superior oblique myokymia: a report of three cases].

S. Defoort‐Dhellemmes, V. Thoorens, C. Signolles, 2012, Journal francais d'ophtalmologie.

Kjellin syndrome: long-term neuro-ophthalmologic follow-up and novel mutations in the SPG11 gene.

P. Vermersch, C. Depienne, G. Stevanin, 2011, Ophthalmology.

G. Labesse, M. Picot, D. Hamroun, 2021, International journal of molecular sciences.

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F‐mediated inherited retinal disorders

J. Sahel, C. Jubin, T. de Ravel, 2019, Human mutation.

Pigmented paravenous chorioretinal atrophy revealing a chronic granulomatous disease

D. Ley, F. Petit, B. Nelken, 2019, Ophthalmic genetics.

Retinitis Punctata Albescens and RLBP1-Allied Phenotypes

G. Labesse, M. Picot, D. Hamroun, 2021, Ophthalmology science.

J. Sahel, W. Hauswirth, V. Greenstein, 2021, Human mutation.

Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.

G. Holder, A. Webster, A. Moore, 2015, American journal of ophthalmology.

AON-Mediated Exon Skipping to Bypass Protein Truncation in Retinal Dystrophies Due to the Recurrent CEP290 c.4723A > T Mutation. Fact or Fiction?

Nicolas Goudin, I. Perrault, J. Kaplan, 2019, Genes.

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype

A. Munnich, S. Hanein, H. Dollfus, 2007, Human mutation.

Craniopharyngioma: ophthalmological aspects at diagnosis.

M. Vinchon, I. Bouacha, S. Defoort‐Dhellemmes, 2006, Journal of pediatric endocrinology & metabolism : JPEM.

TSH-secreting adenoma improved with cabergoline.

G. Soto-Ares, S. Blond, R. Assaker, 2008, Annales d'endocrinologie.

[Ophthalmologic characteristics of spheno-orbital meningiomas: a series of 23 surgical cases].

P. Pellerin, P. Dhellemmes, S. Defoort‐Dhellemmes, 2009, Journal francais d'ophtalmologie.

Retinal Electrophysiological Results in Patients Receiving Lamotrigine Monotherapy

P. Derambure, S. Defoort-Dhellemmes, B. Arnaud, 2005, Epilepsia.

The relationship of MS to physical trauma and psychological stress: report of the Therapeutics and Technology Assessment Subcommittee of the American Academy of Neurology.

P. Derambure, C. Arndt, J. Hache, 2000, Neurology.

The Effect on Vision of Associated Treatments in Patients Taking Vigabatrin: Carbamazepine Versus Valproate

J. Hache, C. Arndt, S. Defoort‐Dhellemmes, 2002, Epilepsia.

Improvement of downbeat nystagmus after suboccipital decompression for Chiari I malformation

C. Arndt, É. Denion, I. Bouvet-Drumare, 2001 .

High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features.

J. Sahel, C. Béroud, M. Picot, 2015, American journal of ophthalmology.

Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis.

C. Hamel, I. Meunier, C. Dhaenens, 2011, Ophthalmology.

Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy

K. Bigot, M. Abitbol, F. Rigaudière, 2011, Molecular vision.

A public hearing "Shaken baby syndrome: guidelines on establishing a robust diagnosis and the procedures to be adopted by healthcare and social services staff". Guidelines issued by the Hearing Commission.

T. Billette de Villemeur, J. Raul, C. Rambaud, 2011, Annals of physical and rehabilitation medicine.

Subdural hematoma in infants: can it occur spontaneously? Data from a prospective series and critical review of the literature

M. Vinchon, I. Delestret, M. Desurmont, 2010, Child's Nervous System.

A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype

J. Sahel, A. Boland, J. Deleuze, 2017, Human molecular genetics.

Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism

P. Pennamen, E. Lasseaux, B. Arveiler, 2019, Ophthalmic genetics.

Fearful faces impact in peripheral vision: Behavioral and neural evidence

Simon Rigoulot, Sabine Defoort-Dhellemmes, Jacques Honoré, 2011, Neuropsychologia.

Partially reversible quadruple sectoranopia caused by vascular steal due to an arteriovenous malformation

J. Gauvrit, S. Blond, S. Defoort-Dhellemmes, 2004, Graefe's Archive for Clinical and Experimental Ophthalmology.

A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene

J. Sahel, G. Labesse, M. Remy-Jardin, 2016, Scientific Reports.

Sensorineural hearing loss in OPA1-linked disorders.

M. Larsen, D. Milea, E. Colin, 2013, Brain : a journal of neurology.

Sensorineural hearing loss in OPA1-linked disorders.

M. Larsen, D. Milea, E. Colin, 2013, Brain : a journal of neurology.

Infantile Traumatic Subdural Hematomas: Outcome after Five Years

L. Vallée, S. Defoort-Dhellemmes, M. Vinchon, 2003, Pediatric Neurosurgery.

Traumatismes crâniens accidentels ou non du nourrisson

M. Vinchon, P. Dhellemmes, N. Noulé, 2004 .

Infantile Subdural Hematomas due to Traffic Accidents

G. Soto-Ares, S. Defoort-Dhellemmes, O. Noizet, 2002, Pediatric Neurosurgery.

Quadruple Sectoranopie

C. Arndt, J. Hache, S. Defoort‐Dhellemmes, 2005 .

[Jadassohn's sebaceous nevus].

I. Bouvet-Drumare, S. Defoort‐Dhellemmes, P. Pellerin, 1989, Bulletin des societes d'ophtalmologie de France.

Syndrome de Gougerot-Sjögren et pupille tonique d’Adie

P. Vermersch, T. Stojkovic, D. Launay, 2005 .

Thickening of Peripapillar Retinal Fibers for the Diagnosis of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

D. Devos, F. Santorelli, I. Vuillaume, 2011, The Cerebellum.

Characterization of SSBP1-related optic atrophy and foveopathy

M. Picot, Majida Charif, G. Lenaers, 2021, Scientific Reports.

Peripherally Presented Emotional Scenes: A Spatiotemporal Analysis of Early ERP Responses

Simon Rigoulot, Sabine Defoort-Dhellemmes, Jacques Honoré, 2008, Brain Topography.

[Hereditary optic neuropathies: from clinical signs to diagnosis].

G. Lenaers, S. Defoort-Dhellemmes, I. Meunier, 2013, Journal francais d'ophtalmologie.

[Management of congenital microphthalmos and anophthalmos].

F. Mouriaux, I. Audo, F. Guilbert, 1997, Journal francais d'ophtalmologie.

[Aicardi syndrome with unilateral ocular involvement].

A. Tabary, S. Defoort‐Dhellemmes, I. Drumare-Bouvet, 2012, Journal francais d'ophtalmologie.

Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations

S. Hanein, J. Papon, E. Escudier, 2010, Journal of Medical Genetics.

Neurological outcome of a patient with Gaucher disease type III treated by enzymatic replacement therapy

M. Lamblin, S. Sukno, D. Dobbelaere, 1998, Journal of Inherited Metabolic Disease.

A comparative optical coherence tomography study in neuromyelitis optica spectrum disorder and multiple sclerosis

Sabine Defoort-Dhellemmes, Patrick Vermersch, Olivier Outteryck, 2015, Multiple sclerosis.

[Retinal pigment anomalies associated with Fabry's disease].

P. Labalette, M. Ryckewaert, J. Hache, 1998, Journal francais d'ophtalmologie.

Spectral-Domain Optical Coherence Tomography in Hereditary Retinal Dystrophies

M. Mauget-Faÿsse, C. Hamel, S. Defoort-Dhellemmes, 2014 .

Mutational Spectrum, Ocular and Olfactory Phenotypes of CNGB1-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort

Ana Luísa Carvalho, C. Blanchet, X. Zanlonghi, 2023, Genes.

Retinal findings in a patient of French ancestry with CABP4-related retinal disease

N. Soumittra, I. Audo, S. Defoort-Dhellemmes, 2018, Documenta Ophthalmologica.

Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants

H. Dollfus, D. Schorderet, M. Todorova, 2022, International journal of molecular sciences.

Length of optic nerve double inversion recovery hypersignal is associated with retinal axonal loss

P. Vermersch, J. Pruvo, É. Drumez, 2016, Multiple sclerosis.

ERG and anatomical abnormalities suggesting retinopathy in dementia with Lewy bodies

L. Defebvre, A. Destée, D. Devos, 2005, Neurology.

Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients

J. Sahel, P. Gastaud, C. Creuzot-Garcher, 2018, Scientific Reports.

Spinocerebellar Ataxia: A Rational Approach to Aetiological Diagnosis

L. Defebvre, A. Destée, D. Devos, 2012, The Cerebellum.

Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy

J. Sahel, H. Dollfus, I. Audo, 2021, International journal of molecular sciences.

Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients

J. Sahel, P. Gastaud, C. Creuzot-Garcher, 2018, Scientific Reports.

Severe retinitis pigmentosa with posterior staphyloma in a family with c.886C>A p.(Lys296Glu) RHO mutation

C. Dhaenens, C. Marks, I. Drumare, 2019, Ophthalmic Genetics.

Five year follow-up of two sisters with type II sialidosis: systemic and ophthalmic findings including OCT analysis.

J. Cuisset, M. Holder, K. Mention-Mulliez, 2013, Journal of pediatric ophthalmology and strabismus.

Resolution of acute acquired comitant esotropia after suboccipital decompression for Chiari I malformation.

C. Arndt, J. Hache, É. Denion, 2002, American journal of ophthalmology.

E. Renard, M. Auclair, Braud, 2021 .

Spinocerebellar Ataxia: A Rational Approach to Aetiological Diagnosis

L. Defebvre, A. Destée, D. Devos, 2011, The Cerebellum.

Sensorineural hearing loss in OPA1-linked disorders

D. Milea, D. Bonneau, G. Lenaers, 2013 .

[Hereditary optic neuropathies: from clinical signs to diagnosis].

I. Meunier, G. Lenaers, S. Defoort-Dhellemmes, 2013, Journal francais d'ophtalmologie.

Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype

A. Munnich, D. Zafeiriou, S. Hanein, 2010, Human mutation.