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1

Approche développementale des fonctions exécutives : du bébé à l’adolescence

Fourneret, P., des Portes, V.

Journal:

Archives de Pédiatrie

Year:

2016

File:

PDF, 249 KB

2016

2

Trastornos del desarrollo intelectual: deficiencia intelectual, discapacidad mental

Journal:

EMC - Pediatría

Year:

2020

File:

PDF, 636 KB

2020

3

Behavioral disturbance and treatment strategies in Smith-Magenis syndrome

Poisson, Alice, Nicolas, Alain, Cochat, Pierre, Sanlaville, Damien, Rigard, Caroline, de Leersnyder, Hélène, Franco, Patricia, Portes, Vincent Des, Edery, Patrick, Demily, Caroline

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 1.22 MB

english, 2015

4

Prenatal diagnosis of ‘isolated’ Dandy–Walker malformation: imaging findings and prenatal counselling

Laurent Guibaud, Anne Larroque, Dorothée Ville, Damien Sanlaville, Marianne Till, Pascal Gaucherand, Jean-Pierre Pracros, Vincent des Portes

Journal:

Prenatal Diagnosis

Year:

2012

Language:

english

File:

PDF, 768 KB

english, 2012

5

Qualité de vie de l'enfant polyhandicapé : questionnaire portant sur l'influence de l'état de santé et de l'alimentation entérale

E. André, I. Hodgkinson, C. Bérard, V. des Portes

Journal:

Archives de Pédiatrie

Year:

2007

Language:

french

File:

PDF, 179 KB

french, 2007

6

Childhood apraxia of speech without intellectual deficit in a patient with cri du chat syndrome

Stéphanie Marignier, Gaetan Lesca, Jessica Marguin, Gérald Bussy, Damien Sanlaville, Vincent des Portes

Journal:

European Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 424 KB

english, 2012

7

Impact d’un entraînement de la mémoire à court terme verbale sur le langage d’enfants ayant une déficience intellectuelle; Verbal Short-Term Memory Training Impact on Language of Children with Mental Retardation;

Bussy, Gérald, Rigard, Caroline, des Portes, Vincent

Journal:

Revue francophone de la déficience intellectuelle

Year:

2013

Language:

french

File:

PDF, 480 KB

french, 2013

8

Effet placebo dans la déficience intellectuelle d’origine génétique : une méta-analyse

Curie, A., Portes, V. Des, Yang, K., Kirsch, I., Gollub, R.L., Kaptchuk, T.J., Jensen, K.B.

Journal:

Archives de Pédiatrie

Year:

2016

File:

PDF, 244 KB

2016

9

Apprentissage procédural implicite dans la dyslexie de surface et la dyslexie phonologique

Bussy, Gérald, Krifi-Papoz, Sonia, Vieville, Laure, Frenay, Charlotte, Curie, Aurore, Rousselle, Christophe, Rougeot, Christelle, Des Portes, Vincent, Herbillon, Vania

Journal:

Revue de neuropsychologie

Year:

2011

File:

PDF, 711 KB

2011

10

Fifty Concepts for a Critical Phenomenology

des Portes, Charles

Journal:

Journal of the British Society for Phenomenology

Year:

2020

Language:

english

File:

PDF, 444 KB

english, 2020

11

Placebo Responses in Genetically Determined Intellectual Disability: A Meta-Analysis

Curie, Aurore, Yang, Kathy, Kirsch, Irving, Gollub, Randy L., des Portes, Vincent, Kaptchuk, Ted J., Jensen, Karin B., Bardoni, Barbara

Journal:

Year:

2015

Language:

english

File:

PDF, 587 KB

english, 2015

12

Atypical hemispheric asymmetries for the processing of phonological features in children with rolandic epilepsy

Nathalie Bedoin, Emmanuel Ferragne, Céline Lopez, Vania Herbillon, J. De Bellescize, Vincent des Portes

Journal:

Epilepsy & Behavior

Year:

2011

Language:

english

File:

PDF, 522 KB

english, 2011

13

Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms

David Cheillan, Marie Joncquel-Chevalier Curt, Gilbert Briand, Gajja S Salomons, Karine Mention-Mulliez, Dries Dobbelaere, Jean-Marie Cuisset, Laurence Lion-François, Vincent Des Portes, Allel Chabli,

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 228 KB

english, 2012

14

Les syndromes de déficit en créatine

Cheillan, D., Cognat, S., Vandenberghe, N., Des Portes, V., Vianey-Saban, C.

Journal:

Revue Neurologique

Year:

2005

File:

PDF, 80 KB

2005

15

Pineal region tumors: Clinical symptoms and syndromes

Rousselle, C., des Portes, V., Berlier, P., Mottolese, C.

Journal:

Year:

2015

File:

PDF, 492 KB

2015

16

Stroke by Carotid Artery Complete Occlusion in Kawasaki Disease: Case Report and Review of Literature

Sabatier, Isabelle, Chabrier, Stéphane, Brun, Amandine, Hees, Laure, Cheylus, Anne, Gollub, Randy, Hadjikhani, Nouchine, Kong, Jian, des Portes, Vincent, Floret, Daniel, Curie, Aurore

Journal:

Pediatric Neurology

Year:

2013

Language:

english

File:

PDF, 399 KB

english, 2013

17

Le bilan des encéphalopathies épileptiques précoces dans la pratique quotidienne d’un service de neuropédiatrie en 2013

Ville, D., Lesca, G., Milh, M., De Bellescize, J., Blanchard, G., Des Portes, V.

Journal:

Archives de Pédiatrie

Year:

2013

Language:

french

File:

PDF, 64 KB

french, 2013

18

Clinique des déficiences intellectuelles liées au chromosome X

Curie, A., Bussy, G., des Portes, V.

Journal:

Revue Neurologique

Year:

2007

Language:

french

File:

PDF, 60 KB

french, 2007

19

SFIPP CO-05 - Hypoplasie unilatérale du cervelet (HUC). Une série prénatale de 26 cas

Massoud, M., Varene, N., Moutard, M.L., Biellette, T., Benezit, A., Rougeot, C., Des Portes, V., Guibaud, L.

Journal:

Archives de Pédiatrie

Year:

2014

Language:

french

File:

PDF, 36 KB

french, 2014

20

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

X. De Tiege, F. Rozenberg, V. Des Portes, J. Lobut, P. Lebon, G. Ponsot, B. Heron

Year:

2003

Language:

english

File:

PDF, 159 KB

english, 2003

21

Asperger syndrome and early-onset schizophrenia associated with a novel MECP2 deleterious missense variant

Curie, Aurore, Lesca, Gaëtan, Bussy, Gérald, Manificat, Sabine, Arnaud, Valérie, Gonzalez, Sibylle, Revol, Olivier, Calender, Alain, Gérard, Daniel, des Portes, Vincent

Journal:

Psychiatric Genetics

Year:

2017

Language:

english

File:

PDF, 195 KB

english, 2017

22

Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC 16A2 mutations

Remerand, Ganaelle, Boespflug‐Tanguy, Odile, Tonduti, Davide, Touraine, Renaud, Rodriguez, Diana, Curie, Aurore, Perreton, Nathalie, Des Portes, Vincent, Sarret, Catherine, Afenjar, Alexandra, Burglen

Journal:

Developmental Medicine & Child Neurology

Year:

2019

Language:

english

File:

PDF, 671 KB

english, 2019

23

X-linked neurodegenerative syndrome with congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration, linked to Xp22.33-pter

des Portes, V., Bachner, L., Brüls, T., Beldjord, C., Billuart, P., Soufir, N., Bienvenu, Th., Vinet, M. C., Malaspina, E., Marchiani, V., Bertini, E., Kahn, A., Franzoni, E., Chelly, J.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 373 KB

english, 1996

24

Gene for nonspecific X-linked mental retardation (MRX 47) is located in Xq22.3-q24

des Portes, Vincent, Soufir, Nadem, Carrié, Alain, Billuart, Pierre, Bienvenu, Thierry, Vinet, Marie Claude, Beldjord, Cherif, Ponsot, Gérard, Kahn, Axel, Boué, Joelle, Chelly, Jamel

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 84 KB

english, 1997

25

Refined 2.7 centimorgan locus in Xp21.3-22.1 for a nonspecific X-linked mental retardation gene (MRX54)

Jemaa, Lamia Ben, des Portes, Vincent, Zemni, Ramzi, Mrad, Ridha, Maazoul, Faouzi, Beldjord, Ch�rif, Chaabouni, Habiba, Chelly, Jamel

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 233 KB

english, 1999

26

X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: The European XLMR consortium

des Portes, Vincent, Beldjord, Ch�rif, Chelly, Jamel, Hamel, Ben, Kremer, Hannie, Smits, Arie, van Bokhoven, Hans, Ropers, Hans-Hilger, Claes, Stephan, Fryns, Jean Pierre, Ronce, Nathalie, Gendrot, Ch

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 71 KB

english, 1999

27

X-linked congenital ataxia: A clinical and genetic study

Bertini, Enrico, des Portes, Vincent, Zanni, Ginevra, Santorelli, Filippo, Dionisi-Vici, Carlo, Vicari, Stefano, Fariello, Giuseppe, Chelly, Jamel

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 145 KB

english, 2000

28

Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation

Thierry Bienvenu, Vincent des Portes, Nathalie McDonell, Alain Carrié, Ramzi Zemni, Philippe Couvert, Hilger H. Ropers, Claude Moraine, Hans van Bokhoven, Jean Pierre Fryns, Kristina Allen, Christophe

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 154 KB

english, 2000

29

TM4SF2 gene involvement reconsidered in an XLMR family after neuropsychological assessment

Marie Gomot, Nathalie Ronce, Sabine Dessay, Ramzi Zemni, Anne-Dominique Ayrault, Marie-Pierre Moizard, Annie Nivelon, Simone Gilgenkrantz, Julliette Dourlens, Vincent Des Portes, Jamel Chelly, Claude

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 96 KB

english, 2002

30

Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: Clinical study and mutation analysis of the NXF5 Gene

Suzanna G.M. Frints, Lin Jun, Jean-Pierre Fryns, Koen Devriendt, Rudi Teulingkx, Lut Van den Berghe, Bernice De Vos, Martine Borghgraef, Jamel Chelly, Vincent Des Portes, Hans Van Bokhoven, Ben Hamel,

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 209 KB

english, 2003

31

Specific clinical and brain MRI features in mentally retarded patients with mutations in the Oligophrenin-1 gene

Vincent des Portes, Nathalie Boddaert, Silvia Sacco, Sylvain Briault, Kim Maincent, Nadia Bahi, Marie Gomot, Nathalie Ronce, Joseph Bursztyn, Catherine Adamsbaum, Monica Zilbovicius, Jamel Chelly, Cla

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 221 KB

english, 2004

32

Pelizaeus–Merzbacher–Like disease presentation of MCT8 mutated male subjects

Catherine Vaurs-Barrière, Marlène Deville, Catherine Sarret, Geneviève Giraud, Vincent Des Portes, José-Maria Prats-Viñas, Giuseppe De Michele, Bernard Dan, Angela F. Brady, Odile Boespflug-Tanguy, Re

Journal:

Annals of Neurology

Year:

2009

Language:

english

File:

PDF, 229 KB

english, 2009

33

Type I hyperprolinemia: genotype/phenotype correlations

Audrey Guilmatre, Solenn Legallic, Gary Steel, Alecia Willis, Gabriella Di Rosa, Alice Goldenberg, Valérie Drouin-Garraud, Agnès Guet, Cyril Mignot, Vincent Des Portes, Vassili Valayannopoulos, Lionel

Journal:

Year:

2010

Language:

english

File:

PDF, 149 KB

english, 2010

34

Use of position sensitive detectors at energies below 1 MeV: Application to a fast determination of the pitch angle distribution of protons inside the magnetosphere

Jacqueline Etcheto, Jean Etcheto, Roger Gendrin, Bertrand de la Porte des Vaux

Journal:

Nuclear Instruments and Methods

Year:

1973

Language:

english

File:

PDF, 595 KB

english, 1973

35

Unexplained mental retardation: is brain MRI useful?

Fabrice Decobert, Sophie Grabar, Valerie Merzoug, Gabriel Kalifa, Gérard Ponsot, Catherine Adamsbaum, Vincent des Portes

Journal:

Pediatric Radiology

Year:

2005

Language:

english

File:

PDF, 531 KB

english, 2005

36

The location ofDCXmutations predicts malformation severity in X-linked lissencephaly

Pierre-Louis Leger, Isabelle Souville, Nathalie Boddaert, Caroline Elie, Jean Marc Pinard, Perrine Plouin, Marie Laure Moutard, Vincent des Portes, Hilde Van Esch, Sylvie Joriot, Jean Louis Renard, Ja

Journal:

Year:

2008

Language:

english

File:

PDF, 257 KB

english, 2008

37

Inherited microdeletion in Xp21.3–22.1 involved in non-specific mental retardation

Vincent des Portes, Alain Carrié, Pierre Billuare, Virginie Kieffer, Thierry Bienvenu, Marie Claude Vinet, Cherif Beldjord, Axel Kahn, Gérard Ponsot, Jamel Chelly, Marie Laure Moutard

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 1.18 MB

english, 1998

38

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

D Germanaud, M Rossi, G Bussy, D Gérard, L Hertz-Pannier, P Blanchet, H Dollfus, F Giuliano, V Bennouna-Greene, P Sarda, S Sigaudy, A Curie, MC Vincent, R Touraine, V des Portes

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 1.84 MB

english, 2011

39

‘Absence of T378N mutation of ATP1A2 gene in five patients with alternating hemiplegia of childhood’

S Boileau, I Vuillaume, B Sablonnière, S Marignier, V Des Portes, L Vallée, S Auvin

Journal:

Developmental Medicine & Child Neurology

Year:

2008

Language:

english

File:

PDF, 74 KB

english, 2008

40

Ring 14 chromosome presenting as early-onset isolated partial epilepsy

DOROTHÉE VILLE, JULITTA DE BELLESCIZE, MARIE ANGE NGUYEN, HERVÉ TESTARD, AGNÈS GAUTIER, JULIE PERRIER, MARIANNE TILL, VINCENT DES PORTES

Journal:

Developmental Medicine & Child Neurology

Year:

2009

Language:

english

File:

PDF, 330 KB

english, 2009

41

10.1038/31940

Billuart, Pierre, Bienvenu, Thierry, Ronce, Nathalie, des Portes, Vincent, Vinet, Marie Claude, Zemni, Ramzi, Crollius, Hugues Roest, Carrie´, Alain, Fauchereau, Fabien, Cherry, Michele, Briault, Sylv

Journal:

Year:

1998

Language:

english

File:

PDF, 397 KB

english, 1998

42

MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression

Frints, Suzanna Gerarda Maria, Lenzner, Steffen, Bauters, Mareike, Jensen, Lars Riff, Van Esch, Hilde, des Portes, Vincent, Moog, Ute, Macville, Merryn Victor Erik, van Roozendaal, Kees, Schrander-Stu

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 244 KB

english, 2008

43

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation

Meloni, Ilaria, Muscettola, Maddalena, Raynaud, Martine, Longo, Ilaria, Bruttini, Mirella, Moizard, Marie-Pierre, Gomot, Marie, Chelly, Jamel, des Portes, Vincent, Fryns, Jean-Pierre

Journal:

Nature Genetics

Year:

2002

Language:

english

File:

PDF, 269 KB

english, 2002

44

Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28

Villard, Laurent, des Portes, Vincent, Levy, Nicolas, Louboutin, Jean-Pierre, Recan, Dominique, Coquet, Michelle, Chabrol, Brigitte, Figarella-Branger, Dominique, Chelly, Jamel, Pellissier, Jean-Franç

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 443 KB

english, 2000

45

Prenatal diagnosis of ‘isolated’ Dandy–Walker malformation: imaging findings and prenatal counseling

Laurent Guibaud, Anne Larroque, Dorothée Ville, Damien Sanlaville, Marianne Till, Pascal Gaucherand, Jean-Pierre Pracros, Vincent des Portes

Journal:

Prenatal Diagnosis

Year:

2012

Language:

english

File:

PDF, 39 KB

english, 2012

46

Prenatal diagnosis of cerebellar cortical dysplasia associated with abnormalities of foliation

M. Massoud, J. Clerc, M. Cagneux, A. Vasiljevic, J. Massardier, M. Doret, P. Gaucherand, V. Des Portes, L. Guibaud

Journal:

Ultrasound in Obstetrics & Gynecology

Year:

2012

Language:

english

File:

PDF, 141 KB

english, 2012

47

Extracerebellar ectopic brain tissue in the posterior fossa

L. Guibaud, S. Devonec, V. Des Portes, P. Roth, P. Gaucherand, J.-P. Pracros

Journal:

Ultrasound in Obstetrics & Gynecology

Year:

2005

Language:

english

File:

PDF, 189 KB

english, 2005

48

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

L. Guibaud, V. des Portes

Journal:

Ultrasound in Obstetrics & Gynecology

Year:

2006

Language:

english

File:

PDF, 289 KB

english, 2006

49

OP03.02: Abnormal opercular formation on prenatal cerebral imaging: significance and correlation with fetopathological and postnatal data

L. Guibaud, L. Selleret, J. C. Larroche, A. Buenerd, F. Alias, P. Gaucherand, V. Des Portes, J. P. Pracros

Journal:

Ultrasound in Obstetrics & Gynecology

Year:

2006

Language:

english

File:

PDF, 41 KB

english, 2006

50

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

C. Mellerio, S. Marignier, P. Roth, P. Gaucherand, V. des Portes, J. P. Pracros, L. Guibaud

Journal:

Ultrasound in Obstetrics & Gynecology

Year:

2008

Language:

english

File:

PDF, 330 KB

english, 2008