Touitou, Isabell: search on Z-Library

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1

Diagnostic génétique des maladies auto-inflammatoires : indications et interprétation

Isabelle Touitou, Catherine Dodé, Isabelle Jéru, Laurence Cuisset

Journal:

Revue du Rhumatisme Monographies

Year:

2012

File:

PDF, 420 KB

2012

2

Infevers: An evolving mutation database for auto-inflammatory syndromes

Isabelle Touitou, Suzanne Lesage, Michael McDermott, Laurence Cuisset, Hal Hoffman, Catherine Dode, Nitza Shoham, Ebun Aganna, Jean-Pierre Hugot, Carol Wise, Hans Waterham, Denis Pugnere, Jacques Dema

Journal:

Year:

2004

Language:

english

File:

PDF, 269 KB

english, 2004

3

TNFRII polymorphism is associated with response to TNF blockers in rheumatoid arthritis patients seronegative for ACPA

Pers, Yves-Marie, Cadart, Doris, Rittore, Cécile, Ravel, Patrice, Daïen, Vincent, Fabre, Sylvie, Jorgensen, Christian, Touitou, Isabelle

Journal:

Joint Bone Spine

Year:

2014

Language:

english

File:

PDF, 332 KB

english, 2014

4

Obsessive-compulsive disorder: evaluation of clinical and biological circadian parameters during fluoxetine treatment

Bruno Millet, Yvan Touitou, Marie-France Poirier, Marie-Chantal Bourdel, Isabelle Amado, Elie-Georges Hantouche, André Bogdan, Jean-Pierre Olié

Journal:

Psychopharmacology

Year:

1999

Language:

english

File:

PDF, 60 KB

english, 1999

5

Tolerance and efficacy of off-label anti-interleukin-1 treatments in France: a nationwide survey

Rossi-Semerano, Linda, Fautrel, Bruno, Wendling, Daniel, Hachulla, Eric, Galeotti, Caroline, Semerano, Luca, Touitou, Isabelle, Koné-Paut, Isabelle

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 430 KB

english, 2015

6

The expanding spectrum of rare monogenic autoinflammatory diseases

Touitou, Isabelle, Galeotti, Caroline, Rossi-Semerano, Linda, Hentgen, Véronique, Piram, Maryam, Koné-Paut, Isabelle

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

File:

PDF, 226 KB

2013

7

Response to: ‘A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease’

Berteau, Florian, Rouvière, Bénédicte, Nau, Alice, Le Berre, Rozenn, Sarrabay, Guillaume, Touitou, Isabelle, de Moreuil, Claire

Journal:

Annals of the Rheumatic Diseases

Year:

2018

Language:

english

File:

PDF, 307 KB

english, 2018

8

Familial Mediterranean fever in the ‘Chuetas’ of Mallorca: a question of Jewish origin or genetic heterogeneity

Domingo, Cecile, Touitou, Isabelle, Bayou, Anne, Ozen, Seza, Notarnicola, Cecile, Dewalle, Marie, Demaille, Jacques, Buades, Rene, Sayadat, Chalom, Levy, Micha

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 101 KB

english, 2000

9

Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study

Ben-Chetrit, Eldad, Gattorno, Marco, Gul, Ahmet, Kastner, Daniel L, Lachmann, Helen J, Touitou, Isabelle, Ruperto, Nicolino

Journal:

Annals of the Rheumatic Diseases

Year:

2018

Language:

english

File:

PDF, 324 KB

english, 2018

10

Les avancées génétiques dans les maladies auto-inflammatoires

Isabelle Touitou, Sylvie Grandemange

Journal:

Revue du Rhumatisme Monographies

Year:

2010

Language:

french

File:

PDF, 321 KB

french, 2010

11

Missense polymorphism (C/T224) in the human cathepsin D pro-fragment determined by polymerase chain reaction—Single strand conformational polymorphism analysis and possible consequences in cancer cells

Touitou, Isabelle, Capony, Françoise, Brouillet, Jean-Paul, Rochefort, Henri

Journal:

European Journal of Cancer

Year:

1994

Language:

english

File:

PDF, 715 KB

english, 1994

12

Autoinflammation: Management of hereditary recurrent fevers—SHARE experience

Sarrabay, Guillaume, Touitou, Isabelle

Journal:

Nature Reviews Rheumatology (formerly Nature Clinical Practice Rheumatology)

Year:

2015

Language:

english

File:

PDF, 88 KB

english, 2015

13

New data in causes of autoinflammatory diseases

Kone-Paut, Isabelle, Georgin-Laviallec, Sophie, Galeotti, Caroline, Rossi-Semerano, Linda, Hentgen, Véronique, Savey, Léa, Saadoun, David, Sarrabay, Guillaume, Touitou, Isabelle

Journal:

Joint Bone Spine

Year:

2018

Language:

english

File:

PDF, 1.57 MB

english, 2018

14

New genetic interpretation of old diseases

Touitou, Isabelle

Journal:

Autoimmunity Reviews

Year:

2012

Language:

english

File:

PDF, 258 KB

english, 2012

15

Stenting of the Lateral Sinus in Idiopathic Intracranial Hypertension According to the Type of Stenosis

Lenck, Stéphanie, Vallée, Fabrice, Labeyrie, Marc-Antoine, Touitou, Valérie, Saint-Maurice, Jean-Pierre, Guillonnet, Antoine, Tantot, Audrey, Crassard, Isabelle, Bernat, Anne-Laure, Houdart, Emmanuel

Journal:

Year:

2016

Language:

english

File:

PDF, 595 KB

english, 2016

16

Familial Mediterranean Fever in the World

Eldad Ben-Chetrit, Isabelle Touitou

Journal:

Arthritis Care & Research

Year:

2009

Language:

english

File:

PDF, 98 KB

english, 2009

17

MEFV sequence variants and amyloidosis: still an enigmatic question

Ozden Altiok, Fabienne Séguret, Isabelle Touitou

Journal:

Year:

2003

Language:

english

File:

PDF, 85 KB

english, 2003

18

Familial aggregation in Behçet’s disease: High frequency in siblings and parents of pediatric probands

Isabelle Koné-Paut, Iris Geisler, Bertrand Wechsler, Seza Ozen, Huri Ozdogan, Michael Rozenbaum, Isabelle Touitou

Journal:

The Journal of Pediatrics

Year:

1999

Language:

english

File:

PDF, 52 KB

english, 1999

19

Kimura's disease and Behcet's syndrome in the same family – are they associated?

Ben-Chetrit, Eldad, Touitou, Isabelle, Fellig, Yakov, Barat-Houari, Mouna

Journal:

Joint Bone Spine

Year:

2013

Language:

english

File:

PDF, 601 KB

english, 2013

20

Le polymorphisme du TNFRII est associé à la réponse aux anti-TNFα dans la polyarthrite rhumatoïde chez les patients sans anticorps anti-CCP

Pers, Yves-Marie, Cadart, Doris, Rittore, Cécile, Ravel, Patrice, Daïen, Vincent, Fabre, Sylvie, Jorgensen, Christian, Touitou, Isabelle

Journal:

Revue du Rhumatisme

Year:

2014

Language:

french

File:

PDF, 624 KB

french, 2014

21

Identifying Mutations in Autoinflammatory Diseases

Dr Isabelle Touitou,Cécile Notarnicola…

Journal:

American Journal of PharmacoGenomics

Year:

2004

Language:

english

File:

PDF, 179 KB

english, 2004

22

Lack of TEK Gene Mutation in Patients with Cutaneomucosal Venous Malformations from the North-Western Region of Algeria

Brahami, Nabila, Aribi, Mourad, Sari, Badr-Eddine, Khau Van Kien, Philippe, Touitou, Isabelle, Lefranc, Gérard, Barat-Houari, Mouna

Journal:

Genetics Research International

Year:

2013

Language:

english

File:

PDF, 1.59 MB

english, 2013

23

Typical facial gestalt in X-linked Kabuki syndrome

Margot, Henri, Geneviève, David, Gatinois, Vincent, Arveiler, Benoit, Moutton, Sébastien, Touitou, Isabelle, Lacombe, Didier

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 236 KB

english, 2016

24

The spectrum of Familial Mediterranean Fever (FMF) mutations

Touitou, Isabelle

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 407 KB

english, 2001

25

Clinical utility gene card for: Prototypic hereditary recurrent fever syndromes (monogenic autoinflammatory syndromes)

Witsch-Baumgartner, Martina, Touitou, Isabelle

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 200 KB

english, 2015

26

Association of TRAF1-C5 with risk of uveitis in juvenile idiopathic arthritis

Pers, Yves-Marie, Le Blay, Pierre, Ludwig, Catherine, Rittore, Cécile, Tejedor, Gautier, Foliwe, Randy, Rodiere, Michel, Jorgensen, Christian, Touitou, Isabelle

Journal:

Joint Bone Spine

Year:

2016

Language:

english

File:

PDF, 401 KB

english, 2016

27

Sleep and rhythm consequences of a genetically induced loss of serotonin.

Leu-Semenescu, Smaranda, Arnulf, Isabelle, Decaix, Caroline, Moussa, Fathi, Clot, Fabienne, Boniol, Camille, Touitou, Yvan, Levy, Richard, Vidailhet, Marie, Roze, Emmanuel

Journal:

Year:

2010

Language:

english

File:

PDF, 799 KB

english, 2010

28

Autosomic dominant familial Behçet disease and haploinsufficiency A20: A review of the literature

Florian, Berteau, Bénédicte, Rouviere, Aurélien, Delluc, Alice, Nau, Rozenn, Le Berre, Guillaume, Sarrabay, Isabelle, Touitou, de Moreuil, Claire

Journal:

Autoimmunity Reviews

Year:

2018

Language:

english

File:

PDF, 1.23 MB

english, 2018

29

A comparison of restriction fragment length polymorphism, tetra primer amplification refractory mutation system PCR and unlabeled probe melting analysis for LTA + 252 C > T SNP genotyping

Stephan Soler, Cécile Rittore, Isabelle Touitou, Laurent Philibert

Journal:

Clinica Chimica Acta

Year:

2011

Language:

english

File:

PDF, 622 KB

english, 2011

30

TGF beta1 polymorphisms are candidate predictors of the clinical response to rituximab in rheumatoid arthritis

Daïen, Claire Immediato, Fabre, Sylvie, Rittore, Cécile, Soler, Stephan, Daïen, Vincent, Tejedor, Gautier, Cadart, Doris, Molinari, Nicolas, Daurès, Jean-Pierre, Jorgensen, Christian, Touitou, Isabell

Journal:

Joint Bone Spine

Year:

2012

Language:

english

File:

PDF, 430 KB

english, 2012

31

Hormonal regulation of cathepsin D following transfection of the estrogen or progesterone receptor into three sex steroid hormone resistant cancer cell lines

Touitou, Isabelle, Vignon, Françoise, Cavailles, Vincent, Rochefort, Henri

Journal:

The Journal of Steroid Biochemistry and Molecular Biology

Year:

1991

Language:

english

File:

PDF, 773 KB

english, 1991

32

Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts

Sarrabay, Guillaume, Grandemange, Sylvie, Touitou, Isabelle

Journal:

Expert Review of Clinical Immunology

Year:

2015

Language:

english

File:

PDF, 554 KB

english, 2015

33

MEFV mutations in Behçet's disease

Isabelle Touitou, Xavier Magne, Nicolas Molinari, André Navarro, Alain Le Quellec, Paolo Picco, Marco Seri, Seza Ozen, Aysin Bakkaloglu, Aysen Karaduman, Jean Marc Garnier, Jacques Demaille, Isabelle

Journal:

Year:

2000

Language:

english

File:

PDF, 47 KB

english, 2000

34

Diagnostic value of MEFV gene analysis in familial Mediterranean fever must still be assessed in non–classically affected populations: Comment on the article by Cazeneuve et al

Isabelle Touitou

Journal:

Arthritis & Rheumatism

Year:

2004

Language:

english

File:

PDF, 87 KB

english, 2004

35

Actualités sur la fièvre méditerranéenne familiale

Isabelle Koné-Paut, Véronique Hentgen, Isabelle Touitou

Journal:

Revue du Rhumatisme

Year:

2011

Language:

french

File:

PDF, 195 KB

french, 2011

36

Overexpression and hormonal regulation of pro-cathepsin D in mammary and endometrial cancer

Henri Rochefort, Vincent Cavailles, Patrick Augereau, Françoise Capony, Thierry Maudelonde, Isabelle Touitou, Marcel Garcia

Journal:

Journal of Steroid Biochemistry

Year:

1989

Language:

english

File:

PDF, 741 KB

english, 1989

37

The infevers autoinflammatory mutation online registry: update with new genes and functions

Florian Milhavet, Laurence Cuisset, Hal M. Hoffman, Rima Slim, Hatem El-Shanti, Ivona Aksentijevich, Suzanne Lesage, Hans Waterham, Carol Wise, Cyril Sarrauste de Menthiere, Isabelle Touitou

Journal:

Year:

2008

Language:

english

File:

PDF, 243 KB

english, 2008

38

Discussion on “Surge investigations on overhead lines and cable systems” before the Institution, 10th April, 1930

Witsch-Baumgartner, Martina, Touitou, Isabelle

Journal:

Journal of the Institution of Electrical Engineers

Year:

1930

Language:

english

File:

PDF, 1.73 MB

english, 1930

39

Familial Mediterranean Fever in a cold climate: read The Lancet

Laura Stewart, John Tolmie, Paul Galea, Isabelle Touitou

Journal:

Year:

2000

Language:

english

File:

PDF, 45 KB

english, 2000

40

Reply to Sönmez et al.

Rama, Mélanie, Touitou, Isabelle, Sarrabay, Guillaume

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 242 KB

english, 2018

41

Country as the primary risk factor for renal amyloidosis in familial mediterranean fever

Isabelle Touitou, Tamara Sarkisian, Myrna Medlej-Hashim, Mehmet Tunca, Avi Livneh, Daniel Cattan, Fatos Yalçinkaya, Seza Özen, Hassan Majeed, Huri Ozdogan, Daniel Kastner, David Booth, Eldad Ben-Chetr

Journal:

Arthritis & Rheumatism

Year:

2007

Language:

english

File:

PDF, 83 KB

english, 2007

42

Quel est le rôle des centres de référence maladies rares ? Comment travailler avec un centre de référence maladies rares quand on est une entreprise ?

Isabelle Touitou

Journal:

La Presse Médicale

Year:

2010

Language:

french

File:

PDF, 53 KB

french, 2010

43

Diagnostic génétique de la maladie périodique (fièvre méditerranéenne familiale ou FMF)

Isabelle Touitou

Journal:

Pathologie Biologie

Year:

2002

Language:

french

File:

PDF, 98 KB

french, 2002

44

Reduced MEFV messenger RNA expression in patients with familial Mediterranean fever

Cécile Notarnicola, Marie-Noëlle Didelot, Isabelle Koné-Paut, Fabienne Seguret, Jacques Demaille, Isabelle Touitou

Journal:

Arthritis & Rheumatism

Year:

2002

Language:

english

File:

PDF, 196 KB

english, 2002

45

Evidence-based recommendations for the practical management of Familial Mediterranean Fever

Hentgen, Véronique, Grateau, Gilles, Kone-Paut, Isabelle, Livneh, Avi, Padeh, Shai, Rozenbaum, Michael, Amselem, Serge, Gershoni-Baruch, Ruth, Touitou, Isabelle, Ben-Chetrit, Eldad

Journal:

Seminars in Arthritis and Rheumatism

Year:

2013

Language:

english

File:

PDF, 289 KB

english, 2013

46

Effect of tunicamycin and endoglycosidase H and F on the estrogen regulated 52000-Mr protein secreted by breast cancer cells

Touitou, Isabelle, Garcia, Marcel, Westley, Bruce, Capony, Françoise, Rochefort, Henri

Journal:

Year:

1985

Language:

english

File:

PDF, 1.64 MB

english, 1985

47

Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase Deficiency

Durel, Cécile-Audrey, Aouba, Achille, Bienvenu, Boris, Deshayes, Samuel, Coppéré, Brigitte, Gombert, Bruno, Acquaviva-Bourdain, Cécile, Hachulla, Eric, Lecomte, Frédéric, Touitou, Isabelle, Ninet, Jac

Journal:

Medicine (Medicine Publishing Company Ltd)

Year:

2016

Language:

english

File:

PDF, 209 KB

english, 2016

48

INSAID variant classification and Eurofever criteria guide optimal treatment strategy in patients with TRAPS: data from the Eurofever registry

Papa, Riccardo, Lane, Thirusha, Minden, Kirsten, Touitou, Isabelle, Cantarini, Luca, Cattalini, Marco, Obici, Laura, Jansson, Annette F., Belot, Alexandre, Frenkel, Joost, Anton, Jordi, Wolska-Kusnier

Journal:

The Journal of Allergy and Clinical Immunology: In Practice

Year:

2020

File:

PDF, 3.63 MB

2020

49

Fièvres récurrentes héréditaires : diagnostic et traitement

Isabelle Touitou, Isabelle Koné-Paut

Journal:

Revue du Rhumatisme

Year:

2007

Language:

french

File:

PDF, 321 KB

french, 2007

50

Musculoskeletal Symptoms in Patients With Cryopyrin-Associated Periodic Syndromes: A Large Database Study

Houx, Laetitia, Hachulla, Eric, Kone-Paut, Isabelle, Quartier, Pierre, Touitou, Isabelle, Guennoc, Xavier, Grateau, Gilles, Hamidou, Mohamed, Neven, Bénédicte, Berthelot, Jean-Marie, Lequerré, Thierry

Journal:

Arthritis & Rheumatology

Year:

2015

Language:

english

File:

PDF, 380 KB

english, 2015

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