N. Bahi-buisson: search on Z-Library

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1

Stratégie d’exploration d’une déficience intellectuelle inexpliquée

A. Verloes, D. Héron, T. Billette de Villemeur, A. Afenjar, C. Baumann, N. Bahi-Buisson, P. Charles, A. Faudet, A. Jacquette, C. Mignot, M.-L. Moutard, S. Passemard, M. Rio, L. Robel, C. Rougeot, D. V

Journal:

Archives de Pédiatrie

Year:

2012

File:

PDF, 478 KB

2012

2

Rett syndrome: Revised diagnostic criteria and nomenclature

Jeffrey L. Neul, Walter E. Kaufmann, Daniel G. Glaze, John Christodoulou, Angus J. Clarke, Nadia Bahi-Buisson, Helen Leonard, Mark E. S. Bailey, N. Carolyn Schanen, Michele Zappella, Alessandra Renier

Journal:

Annals of Neurology

Year:

2010

Language:

english

File:

PDF, 161 KB

english, 2010

3

Traitement des dystonies de l’enfant

A. Roubertie, E. Roze, N. Bahi-Buisson, C. Payet, B. Echenne, D. Doummar

Journal:

Archives de Pédiatrie

Year:

2010

File:

PDF, 335 KB

2010

4

[Handbook of Clinical Neurology] Pediatric Neurology Part I Volume 111 || Diffuse malformations of cortical development

Bahi-Buisson, Nadia

Year:

2013

Language:

english

File:

PDF, 7.40 MB

english, 2013

5

Two new cases of serine deficiency disorders treated with l-serine

Brassier, A., Valayannopoulos, V., Bahi-Buisson, N., Wiame, Elsa, Hubert, L., Boddaert, N., Kaminska, A., Habarou, F., Desguerre, I., Van Schaftingen, E., Ottolenghi, C., de Lonlay, P.

Journal:

European Journal of Paediatric Neurology

Year:

2015

Language:

english

File:

PDF, 1.87 MB

english, 2015

6

Finding patients using similarity measures in a rare diseases-oriented clinical data warehouse: Dr. Warehouse and the needle in the needle stack

Garcelon, Nicolas, Neuraz, Antoine, Benoit, Vincent, Salomon, Rémi, Kracker, Sven, Suarez, Felipe, Bahi-Buisson, Nadia, Hadj-Rabia, Smail, Fischer, Alain, Munnich, Arnold, Burgun, Anita

Journal:

Journal of Biomedical Informatics

Year:

2017

File:

PDF, 2.57 MB

2017

7

Focal polymicrogyria are associated with submicroscopic chromosomal rearrangements detected by CGH microarray analysis

Quelin, Chloe, Saillour, Yoann, Poirier, Karine, Roubertie, Agathe, Boddaert, Nathalie, Desguerre, Isabelle, Letourneur, Frank, Beldjord, Cherif, Chelly, Jamel, Bahi-Buisson, Nadia

Journal:

European Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 728 KB

english, 2012

8

[Handbook of Clinical Neurology] Pediatric Neurology Part I Volume 111 || Epilepsy in inborn errors of metabolism

Bahi-buisson, Nadia

Year:

2013

Language:

english

File:

PDF, 1.02 MB

english, 2013

9

Next generation phenotyping using narrative reports in a rare disease clinical data warehouse

Garcelon, Nicolas, Neuraz, Antoine, Salomon, Rémi, Bahi-Buisson, Nadia, Amiel, Jeanne, Picard, Capucine, Mahlaoui, Nizar, Benoit, Vincent, Burgun, Anita, Rance, Bastien

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 1.32 MB

english, 2018

10

The three stages of epilepsy in patients with CDKL5 mutations

Nadia Bahi-Buisson, Anna Kaminska, Nathalie Boddaert, Marlène Rio, Alexandra Afenjar, Marion Gérard, Fabienne Giuliano, Jacques Motte, Delphine Héron, Marie Ange N'Guyen Morel, Perrine Plouin, Christi

Journal:

Year:

2008

Language:

english

File:

PDF, 608 KB

english, 2008

11

Convulsions et épilepsies de l'enfant

Bahi-Buisson, N., Soufflet, C., Nabbout, R.

Journal:

EMC - Médecine d'urgence

Year:

2008

Language:

french

File:

PDF, 185 KB

french, 2008

12

RecurrentKIF5Cmutation leading to frontal pachygyria without microcephaly

Cavallin, Mara, Hubert, Laurence, Cantagrel, Vincent, Munnich, Arnold, Boddaert, Nathalie, Vincent-Delorme, Catherine, Cuvellier, Jean Christophe, Masson, Cecile, Besmond, Claude, Bahi-Buisson, Nadia

Journal:

Year:

2016

Language:

english

File:

PDF, 585 KB

english, 2016

13

Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction

Cavallin, Mara, Bery, Amandine, Maillard, Camille, Salomon, Laurent J., Bole, Christine, Reilly, Madeline Louise, Nitschké, Patrick, Boddaert, Nathalie, Bahi-Buisson, Nadia

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 1.98 MB

english, 2018

14

Convulsioni ed epilessie del bambino

Bahi-Buisson, N., Soufflet, C., Nabbout, R.

Journal:

Year:

2009

Language:

italian

File:

PDF, 265 KB

italian, 2009

15

Linking MECP2 and pain sensitivity: The example of Rett syndrome

Jenny Downs, Sandrine M. Géranton, Ami Bebbington, Peter Jacoby, Nadia Bahi-Buisson, David Ravine, Helen Leonard

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 134 KB

english, 2010

16

The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform

Yann Fichou, Juliette Nectoux, Nadia Bahi-Buisson, Haydeé Rosas-Vargas, Benoit Girard, Jamel Chelly, Thierry Bienvenu

Journal:

Year:

2009

Language:

english

File:

PDF, 319 KB

english, 2009

17

Cell cloning-based transcriptome analysis in Rett patients: relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genes

J. Nectoux, Y. Fichou, H. Rosas-Vargas, N. Cagnard, N. Bahi-Buisson, P. Nusbaum, F. Letourneur, J. Chelly, T. Bienvenu

Journal:

Journal of Cellular and Molecular Medicine

Year:

2010

Language:

english

File:

PDF, 651 KB

english, 2010

18

Somatic mosaicism for a FOXG1 mutation: diagnostic implication

Diebold, B., Délepine, C., Nectoux, J., Bahi-Buisson, N., Parent, P., Bienvenu, T.

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 645 KB

english, 2014

19

Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller’s dementia infantilis, a rare subtype of autism spectrum disorder

Philippe, Anne, Craus, Yann, Rio, Marlène, Bahi-Buisson, Nadia, Boddaert, Nathalie, Malan, Valérie, Bonnefont, Jean-Paul, Robel, Laurence

Journal:

Year:

2015

Language:

english

File:

PDF, 538 KB

english, 2015

20

Genetics and mechanisms leading to human cortical malformations

Romero, Delfina M., Bahi-Buisson, Nadia, Francis, Fiona

Journal:

Seminars in Cell & Developmental Biology

Year:

2017

Language:

english

File:

PDF, 3.23 MB

english, 2017

21

TLE1, a key player in neurogenesis, a new candidate gene for autosomal recessive postnatal microcephaly

Cavallin, Mara, Maillard, Camille, Hully, Marie, Philbert, Marion, Boddaert, Nathalie, Reilly, Madeline Louise, Nitschké, Patrick, Bery, Amandine, Bahi-Buisson, Nadia

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 947 KB

english, 2018

22

A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization

Tangui Le Guen, Yann Fichou, Juliette Nectoux, Nadia Bahi-Buisson, François Rivier, Nathalie Boddaert, Bertrand Diebold, Delphine Héron, Jamel Chelly, Thierry Bienvenu

Journal:

Year:

2011

Language:

english

File:

PDF, 551 KB

english, 2011

23

The ketogenic diet improves recently worsened focal epilepsy

NATHALIE VILLENEUVE, FLORENCE PINTON, NADIA BAHI-BUISSON, OLIVIER DULAC, CATHERINE CHIRON, RIMA NABBOUT

Journal:

Developmental Medicine & Child Neurology

Year:

2009

Language:

english

File:

PDF, 89 KB

english, 2009

24

L'épilepsie dans les aberrations chromosomiques

N. Bahi-Buisson, D. Ville, M. Eisermann, P. Plouin, A. Kaminska, C. Chiron

Journal:

Archives de Pédiatrie

Year:

2005

Language:

french

File:

PDF, 1.54 MB

french, 2005

25

A critical and previously unsuspected role for doublecortin at the neuromuscular junction in mouse and human

Bourgeois, F., Messéant, J., Kordeli, E., Petit, J.M., Delers, P., Bahi-Buisson, N., Bernard, V., Sigoillot, S.M., Gitiaux, C., Stouffer, M., Francis, F., Legay, C.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 3.87 MB

english, 2015

26

Molar Tooth Sign and Superior Vermian Dysplasia: A Radiological, Clinical, and Genetic Study

S. Romano, N. Boddaert, I. Desguerre, L. Hubert, R. Salomon, D. Seidenwurm, N. Bahi-buisson, R. Nabbout, P. Sonigo, S. Lyonnet, F. Brunelle, A. Munnich, P. De Lonlay

Year:

2006

Language:

english

File:

PDF, 138 KB

english, 2006

27

Altered microtubule dynamics in Mecp2-deficient astrocytes

Juliette Nectoux, Cedrick Florian, Chloe Delepine, Nadia Bahi-Buisson, Malik Khelfaoui, Sophie Reibel, Jamel Chelly, Thierry Bienvenu

Journal:

Journal of Neuroscience Research

Year:

2012

Language:

english

File:

PDF, 982 KB

english, 2012

28

InterRett, a model for international data collection in a rare genetic disorder

Sandra Louise, Sue Fyfe, Ami Bebbington, Nadia Bahi-Buisson, Alison Anderson, Mercé Pineda, Alan Percy, Bruria Ben Zeev, Xi Ru Wu, Xinhua Bao, Patrick Mac Leod, Judith Armstrong, Helen Leonard

Journal:

Research in Autism Spectrum Disorders

Year:

2009

Language:

english

File:

PDF, 294 KB

english, 2009

29

Gross Motor Profile in Rett Syndrome as Determined by Video Analysis

Downs, J., Bebbington, A., Jacoby, P., Msall, M., McIlroy, O., Fyfe, S., Bahi-Buisson, N., Kaufmann, W., Leonard, H.

Journal:

Neuropediatrics

Year:

2008

Language:

english

File:

PDF, 260 KB

english, 2008

30

Sommeil dans le syndrome de Rett : résultats polysomnographiques chez 13 patientes

Amaddeo, A., De Sanctis, L., Olmo, J., Sidhoum, L., Khirani, S., Bahi-Buisson, N., Fauroux, B.

Journal:

Médecine du Sommeil

Year:

2018

Language:

french

File:

PDF, 49 KB

french, 2018

31

Infantile Spasms as an Epileptic Feature of DEND Syndrome Associated With an Activating Mutation in the Potassium Adenosine Triphosphate (ATP) Channel, Kir6.2

Bahi-Buisson, N., Eisermann, M., Nivot, S., Bellanne-Chantelot, C., Dulac, O., Bach, N., Plouin, P., Chiron, C., de Lonlay, P.

Journal:

Journal of Child Neurology

Year:

2007

Language:

english

File:

PDF, 267 KB

english, 2007

32

New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum

Bahi-Buisson, N., Souville, I., Fourniol, F. J., Toussaint, A., Moores, C. A., Houdusse, A., Yves Lemaitre, J., Poirier, K., Khalaf-Nazzal, R., Hully, M., Louis Leger, P., Elie, C., Boddaert, N., Beld

Journal:

Year:

2013

Language:

english

File:

PDF, 972 KB

english, 2013

33

Fetal brain imaging following laser surgery in twin-to-twin surgery

Stirnemann, J, Chalouhi, G, Essaoui, M, Bahi-Buisson, N, Sonigo, P, Millischer, A-E, Lapillonne, A, Guigue, V, Salomon, LJ, Ville, Y

Journal:

BJOG: An International Journal of Obstetrics & Gynaecology

Year:

2016

Language:

english

File:

PDF, 156 KB

english, 2016

34

Outcome of childhood-onset epilepsy from adolescence to adulthood: Transition issues

Nabbout, R., Andrade, D.M., Bahi-Buisson, N., Cross, H., Desquerre, I., Dulac, O., Granata, T., Hirsch, E., Navarro, V., Ouss, L., Pearl, P.L., Schmidt, D., Thiele, E., Camfield, P.R., Camfield, C.S.

Journal:

Epilepsy & Behavior

Year:

2017

Language:

english

File:

PDF, 495 KB

english, 2017

35

Building Bridges Between the Clinic and the Laboratory: A Meeting Review – Brain Malformations: A Roadmap for Future Research

Sapir, Tamar, Barakat, Tahsin Stefan, Paredes, Mercedes F., Lerman-Sagie, Tally, Aronica, Eleonora, Klonowski, Wlodzimierz, Nguyen, Laurent, Ben Zeev, Bruria, Bahi-Buisson, Nadia, Leventer, Richard, R

Journal:

Frontiers in Cellular Neuroscience

Year:

2019

Language:

english

File:

PDF, 1003 KB

english, 2019

36

Respiratory chain deficiency in a female with Aicardi-Goutières syndrome

Christine Barnérias MD, , Irina Giurgea, Lucie Hertz-Pannier, Nadia Bahi-Buisson, Nathalie Boddaert, Pierre Rustin PhD, , Agnés Rotig, Isabelle Desguerre, Arnold Munnich, Pascale de Lonlay

Journal:

Developmental Medicine & Child Neurology

Year:

2006

Language:

english

File:

PDF, 295 KB

english, 2006

37

Early Pattern of Epilepsy in the Ring Chromosome 20 Syndrome

Dorothée Ville, Anna Kaminska, Nadia Bahi-Buisson, Arnaud Biraben, Perrine Plouin, Louise Telvi, Olivier Dulac, Catherine Chiron

Journal:

Year:

2006

Language:

english

File:

PDF, 393 KB

english, 2006

38

Renal transplantation in 4 patients with methylmalonic aciduria: A cell therapy for metabolic disease

Brassier, A., Boyer, O., Valayannopoulos, V., Ottolenghi, C., Krug, P., Cosson, M.A., Touati, G., Arnoux, J.B., Barbier, V., Bahi-Buisson, N., Desguerre, I., Charbit, M., Benoist, J.F., Dupic, L., Aig

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 253 KB

english, 2013

39

Survenue d’une crise d’épilepsie prolongée chez l’enfant : quelle prise en charge en dehors du milieu hospitalier ?

Arzimanoglou, A., Wait, S., Auvin, S., Bahi-Buisson, N., Nguyen, S.

Journal:

Archives de Pédiatrie

Year:

2014

File:

PDF, 283 KB

2014

40

Arterial Spin Labeling MRI: A step forward in non-invasive delineation of focal cortical dysplasia in children

Blauwblomme, Thomas, Boddaert, Nathalie, Chémaly, Nicole, Chiron, Catherine, Pages, Mélanie, Varlet, Pascale, Bourgeois, Marie, Bahi-Buisson, Nadia, Kaminska, Anna, Grevent, David, Brunelle, Francis,

Journal:

Epilepsy Research

Year:

2014

Language:

english

File:

PDF, 1.11 MB

english, 2014

41

OC01.02: Fetal brain imaging following laser surgery in twin-twin surgery

Essaoui, M., Virginie, G., Stagnati, V., Hourrier, S., Bahi-Buisson, N., Sonigo, P., Millischer, A., Salomon, L.J., Ville, Y.

Journal:

Ultrasound in Obstetrics & Gynecology

Year:

2014

Language:

english

File:

PDF, 46 KB

english, 2014

42

Variants in CUL4B are Associated with Cerebral Malformations

Vulto-van Silfhout, Anneke T., Nakagawa, Tadashi, Bahi-Buisson, Nadia, Haas, Stefan A., Hu, Hao, Bienek, Melanie, Vissers, Lisenka E.L.M., Gilissen, Christian, Tzschach, Andreas, Busche, Andreas, Müse

Journal:

Year:

2015

Language:

english

File:

PDF, 1.09 MB

english, 2015

43

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

Tripathy, Ratna, Leca, Ines, van Dijk, Tessa, Weiss, Janneke, van Bon, Bregje W., Sergaki, Maria Christina, Gstrein, Thomas, Breuss, Martin, Tian, Guoling, Bahi-Buisson, Nadia, Paciorkowski, Alexander

Journal:

Year:

2018

Language:

english

File:

PDF, 8.39 MB

english, 2018

44

The phenotype associated with a large deletion on MECP2

Bebbington, Ami, Downs, Jenny, Percy, Alan, Pineda, Mercé, Zeev, Bruria Ben, Bahi-Buisson, Nadia, Leonard, Helen

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 483 KB

english, 2012

45

A cognitive and affective pattern in posterior fossa strokes in children: a case series

MANOELLE KOSSOROTOFF, CORALIE GONIN-FLAMBOIS, CYRIL GITIAUX, SUSANA QUIJANO, NATHALIE BODDAERT, NADIA BAHI-BUISSON, CHRISTINE BARNERIAS, OLIVIER DULAC, FRANCIS BRUNELLE, ISABELLE DESGUERRE

Journal:

Developmental Medicine & Child Neurology

Year:

2010

Language:

english

File:

PDF, 332 KB

english, 2010

46

Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria

Jaglin, Xavier Hubert, Poirier, Karine, Saillour, Yoann, Buhler, Emmanuelle, Tian, Guoling, Bahi-Buisson, Nadia, Fallet-Bianco, Catherine, Phan-Dinh-Tuy, Françoise, Kong, Xiang Peng, Bomont, Pascale

Journal:

Nature Genetics

Year:

2009

Language:

english

File:

PDF, 796 KB

english, 2009

47

FOXG1-Related Disorders: From Clinical Description to Molecular Genetics

Florian, C., Bahi-Buisson, N., Bienvenu, T.

Journal:

Molecular Syndromology

Year:

2011

Language:

english

File:

PDF, 397 KB

english, 2011

48

Parental view of epilepsy in Rett Syndrome

Bahi-Buisson Nadia, Guellec Isabelle, Nabbout Rima, Guet Agnès, Nguyen Gérard, Dulac Olivier, Chiron Catherine

Journal:

Brain and Development

Year:

2008

Language:

english

File:

PDF, 101 KB

english, 2008

49

Conduite à tenir en cas de « convulsions » néonatales

A. Kaminska, J. Mourdie, C. Barnerias, N. Bahi-Buisson, P. Plouin, C. Huon

Journal:

Archives de Pédiatrie

Year:

2007

Language:

french

File:

PDF, 2.19 MB

french, 2007

50

P158 - Acanthosis nigricans et lupus érythémateux systémique de l’enfant

Carrie, E., Hadj-Rabia, S., Bahi-Buisson, N., De Prost, Y., Hamel, D.

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2005

Language:

french

File:

PDF, 67 KB

french, 2005

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