Abifadel N.: search on Z-Library

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1

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

Abifadel, Marianne, Varret, Mathilde, Rabès, Jean-Pierre, Allard, Delphine, Ouguerram, Khadija, Devillers, Martine, Cruaud, Corinne, Benjannet, Suzanne, Wickham, Louise, Erlich, Danièle

Journal:

Nature Genetics

Year:

2003

Language:

english

File:

PDF, 133 KB

english, 2003

2

Modelling of the behavior of dry sand by an elasto-plastic “fuzzy set” model

Klisinski M., Abifadel N., Runesson K., Sture S.

Journal:

Computers and Geotechnics

Year:

1991

Language:

english

File:

PDF, 898 KB

english, 1991

3

Molecular analysis and intestinal expression ofSAR1genes and proteins in Anderson's disease (Chylomicron retention disease)

Amandine Georges, Jessica Bonneau, Dominique Bonnefont-Rousselot, Jacqueline Champigneulle, Jean P Rabès, Marianne Abifadel, Thomas Aparicio, Jean C Guenedet, Eric Bruckert, Catherine Boileau, Alain M

Journal:

Orphanet Journal of Rare Diseases

Year:

2011

Language:

english

File:

PDF, 2.74 MB

english, 2011

4

Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia

Marianne Abifadel, Maryse Guerin, Suzanne Benjannet, Jean-Pierre Rabès, Wilfried Le Goff, Zélie Julia, Josée Hamelin, Valérie Carreau, Mathilde Varret, Eric Bruckert, Laurent Tosolini, Olivier Meilhac

Journal:

Atherosclerosis

Year:

2012

Language:

english

File:

PDF, 576 KB

english, 2012

5

43 NEW GAIN OF FUNCTIONS MUTATIONS IN PCSK9 AND THEIR IMPACT IN FAMILIAL HYPERCHOLESTEROLEMIA

AbiFadel, M., Rabès, J.-P., Guérin, M., Carreau, V., Carrié, A., Varret, M., Samson-Bouma, M.-E., Tosolini, L., Erlich, D., Couvert, P., Bonnefont-Rousselot, D., Bruckert, E., Prat, A., Seidah, N., Bo

Journal:

Atherosclerosis Supplements

Year:

2011

Language:

english

File:

PDF, 45 KB

english, 2011

6

PCSK9 FROM GENE AND VARIANTS TO PROTEIN AND PHENOTYPE

Abifadel, M., Bernier, L., Bonneau, J., Marques, A., Marduel, M., Devillers, M., Erlich, D., Rabes, J.-P., Varret, M., Davignon, J., Boileau, C.

Journal:

Atherosclerosis Supplements

Year:

2008

Language:

english

File:

PDF, 72 KB

english, 2008

7

Genetic heterogeneity of autosomal dominant hypercholesterolemia

M Varret, M Abifadel, J-P Rabès, C Boileau

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 190 KB

english, 2008

8

Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease

Marianne Abifadel, Jean-Pierre Rabès, Martine Devillers, Arnold Munnich, Danièle Erlich, Claudine Junien, Mathilde Varret, Catherine Boileau

Journal:

Year:

2009

Language:

english

File:

PDF, 239 KB

english, 2009

9

Proprotein convertase subtilisin / kexin 9 (PCSK9) inhibitors and the future of dyslipidemia therapy: an updated patent review (2011-2015)

Elbitar, Sandy, Khoury, Petra El, Ghaleb, Youmna, Rabès, Jean-Pierre, Varret, Mathilde, Seidah, Nabil G., Boileau, Catherine, Abifadel, Marianne

Journal:

Expert Opinion on Therapeutic Patents

Year:

2016

Language:

english

File:

PDF, 822 KB

english, 2016

10

Dyslipidaemia in the Middle East: Current status and a call for action

Al Rasadi, Khaled, Almahmeed, Wael, AlHabib, Khalid F., Abifadel, Marianne, Farhan, Hasan Ali, AlSifri, Saud, Jambart, Selim, Zubaid, Mohammad, Awan, Zuhier, Al-Waili, Khalid, Barter, Philip

Journal:

Atherosclerosis

Year:

2016

Language:

english

File:

PDF, 497 KB

english, 2016

11

[American Thoracic Society American Thoracic Society 2010 International Conference, May 14-19, 2010 â¢ New Orleans - ()] A45. ICU MANAGEMENT AND OUTCOMES: PREDICTION, PROCEDURES AND POT POURRI - Hemoglobin A1C Level Less Than 6.5% Is Associated With Severe Hypoglycemia In Critically Ill Patients Treated With Insulin

Szerszen, Anita, ABIFADEL, FRANCOIS, Ross, Jennifer, Vassell, Karen, Ahern, Kathleen, Shtaynberg, Norbert, Edwards, Adam, Rothman, Jeffrey, Maniatis, Theodore, Bagon, Emma, Castellanos, Mario R.

Year:

2010

File:

PDF, 20 KB

2010

12

LOCALISATION OF A FIFTH GENE INVOLVED IN AUTOSOMAL DOMINANT HYPERCHOLESTEROLEMIA

Marduel, M., Abifadel, M., Marques, A., Bonneau, J., Devillers, M., Erlich, D., Munnich, A., Rabes, J., Boileau, C., Varret, M.

Journal:

Atherosclerosis Supplements

Year:

2008

Language:

english

File:

PDF, 71 KB

english, 2008

13

PCSK9 polymorphism in a Tunisian cohort: Identification of a new allele, L8, and association of allele L10 with reduced coronary heart disease risk

Slimani, Afef, Hrira, Mohamed Yahia, Najah, Mohamed, Jomaa, Walid, Maatouk, Faouzi, Hamda, Khaldoun Ben, Abifadel, Marianne, Rabès, Jean-Pierre, Boileau, Catherine, Rouis, Mustapha, Slimane, Mohamed N

Journal:

Molecular and Cellular Probes

Year:

2015

Language:

english

File:

PDF, 458 KB

english, 2015

14

Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France

Marie Marduel, Alain Carrié, Agnes Sassolas, Martine Devillers, Valérie Carreau, Mathilde Di Filippo, Danièle Erlich, Marianne Abifadel, Alice Marques-Pinheiro, Arnold Munnich, Claudine Junien, Cather

Journal:

Year:

2010

Language:

english

File:

PDF, 122 KB

english, 2010

15

Genomic characterization of two deletions in the LDLR gene in Tunisian patients with familial hypercholesterolemia

Awatef Jelassi, Afef Slimani, Jean Pierre Rabès, Imen Jguirim, Marianne Abifadel, Catherine Boileau, Mohamed Najah, Samir M'rabet, Jawher Mzid, Mohamed Naceur Slimane, Mathilde Varret

Journal:

Clinica Chimica Acta

Year:

2012

Language:

english

File:

PDF, 639 KB

english, 2012

16

Après le récepteur des LDL et l'apolipoprotéine B, l'hypercholestérolémie familiale révèle son troisième protagoniste: PCSK9

Abifadel, M., Rabès, J.-P., Boileau, C., Varret, M.

Journal:

Annales d'Endocrinologie

Year:

2007

Language:

french

File:

PDF, 306 KB

french, 2007

17

Living thePCSK9Adventure: from the Identification of a New Gene in Familial Hypercholesterolemia Towards a Potential New Class of Anticholesterol Drugs

Marianne Abifadel,Sandy Elbitar,Petra El Khoury…

Journal:

Current Atherosclerosis Reports

Year:

2014

Language:

english

File:

PDF, 818 KB

english, 2014

18

3FS07-5 NARC-1: A potential new target for drug therapy of hypercholesterolemia

Abifadel, M., Davignon, J., Bernier, L., Dubuc, G., Boileau, C., Prat, A., Seidah, N.G.

Journal:

Atherosclerosis Supplements

Year:

2003

Language:

english

File:

PDF, 68 KB

english, 2003

19

MS91 PCSK9: FROM GENE AND VARIANTS TO PROTEIN AND PLASMA LEVELS

AbiFadel, M., Rabès, J.-P., Varret, M., Samson-Bouma, M.-E., Bruckert, E., Devillers, M., Carreau, V., Tosolini, L., Marduel, M., Marques, A., Couvert, P., Bonnefont-Rousselot, D., Guérin, M., Carrié,

Journal:

Atherosclerosis Supplements

Year:

2010

Language:

english

File:

PDF, 62 KB

english, 2010

20

[American Thoracic Society American Thoracic Society 2010 International Conference, May 14-19, 2010 • New Orleans - ()] C43. CASE REPORTS IN INTERSTITIAL LUNG DISEASE AND MORE II - Exogenous Lipoid Pneumonia: A Case Report And Review Of The Literature

ABIFADEL, FRANCOIS, Harris, Kassem N.

Year:

2010

Language:

english

File:

PDF, 36 KB

english, 2010

21

Exome Sequencing in Suspected Monogenic Dyslipidemias

Stitziel, N. O., Peloso, G. M., Abifadel, M., Cefalu, A. B., Fouchier, S., Motazacker, M. M., Tada, H., Larach, D. B., Awan, Z., Haller, J. F., Pullinger, C. R., Varret, M., Rabes, J.-P., Noto, D., Ta

Journal:

Circulation Cardiovascular Genetics

Year:

2015

Language:

english

File:

PDF, 2.70 MB

english, 2015

22

Familial hypercholesterolemia mutations in the Middle Eastern and North African region: A need for a national registry

Bamimore, Mary Aderayo, Zaid, Ahmed, Banerjee, Yajnavalka, Al-Sarraf, Ahmad, Abifadel, Marianne, Seidah, Nabil G., Al-Waili, Khalid, Al-Rasadi, Khalid, Awan, Zuhier

Journal:

Journal of Clinical Lipidology

Year:

2015

Language:

english

File:

PDF, 829 KB

english, 2015

23

Abstract: S4-9 PCSK9

Abifadel, M, Boileau, C

Journal:

Atherosclerosis Supplements

Year:

2009

Language:

english

File:

PDF, 74 KB

english, 2009

24

MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections

Barbier, Mathieu, Gross, Marie-Sylvie, Aubart, Mélodie, Hanna, Nadine, Kessler, Ketty, Guo, Dong-Chuan, Tosolini, Laurent, Ho-Tin-Noe, Benoit, Regalado, Ellen, Varret, Mathilde, Abifadel, Marianne, Mi

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.17 MB

english, 2014

25

Effect of the p.Arg357His mutation of PCSK9 on basal and postprandial lipoprotein metabolism

Varret, Mathilde, Abifadel, Marianne, Despina Kalopissis, Athina, Fatoumata Maiga, Sira, Lambert, Gilles, Seidah, Nabil G., Boileau, Catherine, Chabert, Michele

Journal:

Atherosclerosis

Year:

2017

Language:

english

File:

PDF, 54 KB

english, 2017

26

PCSK9 Mutations in Familial Hypercholesterolemia: from a Groundbreaking Discovery to Anti-PCSK9 Therapies

El Khoury, Petra, Elbitar, Sandy, Ghaleb, Youmna, Khalil, Yara Abou, Varret, Mathilde, Boileau, Catherine, Abifadel, Marianne

Journal:

Current Atherosclerosis Reports

Year:

2017

Language:

english

File:

PDF, 3.21 MB

english, 2017

27

High prevalence of ventricular repolarization abnormalities in people carrying TGFβR2 mutations

Extramiana, F., Milleron, O., Elbitar, S., Uccellini, A., Langeois, M., Spentchian, M., Delorme, G., Arnoult, F., Denjoy, I., Bouleti, C., Fressart, V., Iserin, F., Maison-Blanche, P., Abifadel, M., L

Journal:

Scientific Reports

Year:

2018

Language:

english

File:

PDF, 1.75 MB

english, 2018

28

The molecular basis of familial hypercholesterolemia in Lebanon: Spectrum of LDLR mutations and role of PCSK9 as a modifier gene

Marianne Abifadel, Jean-Pierre Rabès, Sélim Jambart, Georges Halaby, Marie-Hélène Gannagé-Yared, Antoine Sarkis, Ghada Beaino, Mathilde Varret, Nabiha Salem, Sandra Corbani, Hermine Aydénian, Claudine

Journal:

Year:

2009

Language:

english

File:

PDF, 158 KB

english, 2009

29

Abstract: 1459 PCSK9, FROM GENE AND VARIANT TO PROTEIN AND PHENOTYPE: A NEW THERAPEUTIC TARGET IN HYPERCHOLESTEROLEMIA

Abifadel, M, Boileau, C

Journal:

Atherosclerosis Supplements

Year:

2009

Language:

english

File:

PDF, 77 KB

english, 2009

30

Plasma PCSK9 and cardiovascular events in type 2 diabetes

El Khoury, Petra, Roussel, Ronan, Fumeron, Frederic, Velho, Gilberto, Jacob, Marie-Paule, Steg, Gabriel, Potier, L., Ghaleb, Youmna, Elbitar, Sandy, Abifadel, Marianne, Boileau, Catherine, Marre, Mich

Journal:

Atherosclerosis

Year:

2017

Language:

english

File:

PDF, 59 KB

english, 2017

31

In Vivo Evidence That Furin from Hepatocytes Inactivates PCSK9

Essalmani, R., Susan-Resiga, D., Chamberland, A., Abifadel, M., Creemers, J. W., Boileau, C., Seidah, N. G., Prat, A.

Journal:

Journal of Biological Chemistry

Year:

2011

Language:

english

File:

PDF, 1.39 MB

english, 2011

32

The Proprotein Convertases in Hypercholesterolemia and Cardiovascular Diseases: Emphasis on Proprotein Convertase Subtilisin/Kexin 9

Seidah, N. G., Abifadel, M., Prost, S., Boileau, C., Prat, A.

Journal:

Pharmacological Reviews

Year:

2016

Language:

english

File:

PDF, 1.69 MB

english, 2016

33

Heterozygous TGFBR2 mutations in Marfan syndrome

Mizuguchi, Takeshi, Collod-Beroud, Gwenaëlle, Akiyama, Takushi, Abifadel, Marianne, Harada, Naoki, Morisaki, Takayuki, Allard, Delphine, Varret, Mathilde, Claustres, Mireille, Morisaki, Hiroko

Journal:

Nature Genetics

Year:

2004

Language:

english

File:

PDF, 305 KB

english, 2004

34

NARC-1/PCSK9 and Its Natural Mutants: ZYMOGEN CLEAVAGE AND EFFECTS ON THE LOW DENSITY LIPOPROTEIN (LDL) RECEPTOR AND LDL CHOLESTEROL

Benjannet, S., Rhainds, D., Essalmani, R., Mayne, J., Wickham, L., Jin, W., Asselin, M.-C., Hamelin, J., Varret, M., Allard, D., Trillard, M., Abifadel, M., Tebon, A., Attie, A. D., Rader, D. J., Boil

Journal:

Journal of Biological Chemistry

Year:

2004

Language:

english

File:

PDF, 1.02 MB

english, 2004

35

PC9, A New Actor in Autosomal Dominant Hypercholesterolemia

Allard, Delphine, Abifadel, Marianne, Rabes, Jean-Pierre, Varret, Mathilde

Journal:

Current Genomics

Year:

2005

Language:

english

File:

PDF, 127 KB

english, 2005

36

Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia

Delphine Allard, Sabine Amsellem, Marianne Abifadel, Mélanie Trillard, Martine Devillers, Gérald Luc, Michel Krempf, Yves Reznik, Jean-Philippe Girardet, Alexandre Fredenrich, Claudine Junien, Mathild

Journal:

Year:

2005

Language:

english

File:

PDF, 254 KB

english, 2005

37

Erratum: Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia

Delphine Allard, Sabine Amsellem, Marianne Abifadel, Mélanie Trillard, Martine Devillers, Gérald Luc, Michel Krempf, Yves Reznik, Jean-Philippe Girardet, Alexandre Fredenrich, Claudine Junien, Mathild

Journal:

Year:

2005

File:

PDF, 18 KB

2005

38

Implication Of Lrp6 Variants In Familial Hypercholesterolemia

Ghaleb, Y., Elbitar, S., Loste, A., El Khoury, P., Abou-Khalil, Y., Nicolas, G., Le Borgne, M., Moulin, P., Di-Filippo, M., Charriere, S., Iliozer, H., Rabès, J.P., Boileau, C., Abifadel, M., Varret,

Journal:

Atherosclerosis

Year:

2019

Language:

english

File:

PDF, 199 KB

english, 2019

39

Identification of the first Lebanese mutation in the LPL gene and description of a rapid detection method

M. Abifadel, S. Jambart, D. Allard, J.-P. Rabès, M. Varret, A. Derré, E. Chouery, N. Salem, C. Junien, H. Aydénian, C. Boileau

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 95 KB

english, 2004

40

PCSK9, du gène à la protéine : un nouvel acteur dans l’homéostasie du cholestérol

Abifadel, Marianne, Rabès, Jean-Pierre, Boileau, Catherine, Varret, Mathilde

Journal:

médecine/sciences

Year:

2006

Language:

french

File:

PDF, 83 KB

french, 2006

41

The UMD-LDLR database: additions to the software and 490 new entries to the database

Ludovic Villéger, Marianne Abifadel, Delphine Allard, Jean-Pierre Rabès, Rochelle Thiart, Maritha J. Kotze, Christophe Béroud, Claudine Junien, Catherine Boileau, Mathilde Varret

Journal:

Year:

2002

Language:

english

File:

PDF, 168 KB

english, 2002

42

Description d’une nouvelle mutation de LRP5 chez un patient atteint d’un syndrome ostéoporose–pseudogliome

Alice Marques-Pinheiro, Régis Levasseur, Catherine Cormier, Jessica Bonneau, Catherine Boileau, Mathilde Varret, Marianne Abifadel, Yannick Allanore

Journal:

Revue du Rhumatisme

Year:

2010

Language:

french

File:

PDF, 376 KB

french, 2010

43

Effect of thioridazine on gap junction intercellular communication in connexin 43-expressing cells

D. F. Matesic, D. N. Abifadel, E. L. Garcia, M. W. Jann

Journal:

Cell Biology and Toxicology

Year:

2006

Language:

english

File:

PDF, 442 KB

english, 2006

44

SFP-P057 – Hépatologie, gastro-entérologie et nutrition – La maladie d’Anderson : identification d’une nouvelle mutation du gène SARA2

A. Georges, M. Varret, D. Bonnefont-Rousselot, J. Champigneulle, J.-C. Guedenet, M. Abifadel, J.-P. Rabes, E. Bruckert, C. Boileau, M.E. Bouma-Samson, A. Morali

Journal:

Archives de Pédiatrie

Year:

2008

Language:

french

File:

PDF, 97 KB

french, 2008

45

Strategies for proprotein convertase subtilisin kexin 9 modulation: a perspective on recent patents

Abifadel, Marianne, Pakradouni, Jihane, Collin, Matthieu, Samson-Bouma, Marie-Elisabeth, Varret, Mathilde, Rabès, Jean-Pierre, Boileau, Catherine

Journal:

Expert Opinion on Therapeutic Patents

Year:

2010

Language:

english

File:

PDF, 421 KB

english, 2010

46

Usefulness of the genetic risk score to identify phenocopies in families with autosomal dominant hypercholesterolemia?

Ghaleb, Youmna, Elbitar, Sandy, El Khoury, Petra, Rabes, Jean-Pierre, Boileau, Catherine, Abifadel, Marianne, Varret, Mathilde

Journal:

Atherosclerosis

Year:

2017

Language:

english

File:

PDF, 54 KB

english, 2017

47

Contact sensitivity to flavourings and perfumes in atopic dermatitis

R. Abifadel, P. Mortureux, M. Perromat, G. Ducombs, A. Taier

Journal:

Contact Dermatitis

Year:

1992

File:

PDF, 401 KB

1992

48

Novel LRP5 gene mutation in a patient with osteoporosis-pseudoglioma syndrome

Alice Marques-Pinheiro, Régis Levasseur, Catherine Cormier, Jessica Bonneau, Catherine Boileau, Mathilde Varret, Marianne Abifadel, Yannick Allanore

Journal:

Joint Bone Spine

Year:

2010

Language:

english

File:

PDF, 360 KB

english, 2010

49

Effect of mutations in LDLR and PCSK9 genes on phenotypic variability in Tunisian familial hypercholesterolemia patients

Afef Slimani, Awatef Jelassi, Imen Jguirim, Mohamed Najah, Lamia Rebhi, Asma Omezzine, Faouzi Maatouk, Khaldoun Ben Hamda, Maha Kacem, Jean-Pierre Rabès, Marianne Abifadel, Catherine Boileau, Mustapha

Journal:

Atherosclerosis

Year:

2012

Language:

english

File:

PDF, 374 KB

english, 2012

50

A FOURTH PHENOTYPE FOR AUTOSOMAL DOMINANT HYPERCHOLESTEROLEMIA

Marques-Pinheiro, A., Abifadel, M., Bonneau, J., Ouguerram, K., Devillers, M., Erlich, D., Krempf, M., Munnich, A., Rabes, J., Boileau, C., Varret, M.

Journal:

Atherosclerosis Supplements

Year:

2008

Language:

english

File:

PDF, 72 KB

english, 2008

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