De Sandre-Giovannoli, A.: search on Z-Library

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1

LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome

Gaudy-Marqueste, C., Roll, P., Esteves-Vieira, V., Weiller, P.-J., Grob, J. J., Cau, P., Levy, N., De Sandre-Giovannoli, A.

Journal:

Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 875 KB

english, 2010

2

Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype

Chikhaoui, Asma, Elouej, Sahar, Nabouli, Imen, Jones, Meriem, Lagarde, Arnaud, Ben Rekaya, Meriem, Messaoud, Olfa, Hamdi, Yosr, Zghal, Mohamed, Delague, Valerie, Levy, Nicolas, De Sandre-Giovannoli, A

Journal:

Frontiers in Genetics

Year:

2019

Language:

english

File:

PDF, 1.67 MB

english, 2019

3

Lamin A Truncation in Hutchinson-Gilford Progeria

De Sandre-Giovannoli, A.

Journal:

Year:

2003

Language:

english

File:

PDF, 112 KB

english, 2003

4

An overview of new translational, clinical and therapeutic perspectives in laminopathies and other nuclear envelope-related diseases.

Annachiara De Sandre-Giovannoli,Nicolas Levy…

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 273 KB

english, 2015

5

Restrictive Dermopathy in a Turkish Newborn

Gözde Yesil, lhan Hatipoglu, Vera Esteves-Vieira, Nicolas Levy, Annachiara De Sandre-Giovannoli, Beyhan Tüysüz

Journal:

Pediatric Dermatology

Year:

2011

Language:

english

File:

PDF, 217 KB

english, 2011

6

A New Lamin A Mutation Associated with Acrogeria Syndrome

Hadj-Rabia, Smail, Mashiah, Jacob, Roll, Patrice, Boyer, Amandine, Bourgeois, Patrice, Van Kien, Philippe Khau, Lévy, Nicolas, De Sandre-Giovannoli, Annachiara, Bodemer, Christine, Navarro, Claire

Journal:

The Journal of Investigative Dermatology

Year:

2014

Language:

english

File:

PDF, 852 KB

english, 2014

7

Metformin decreases progerin expression and alleviates pathological defects of Hutchinson–Gilford progeria syndrome cells

Egesipe, Anne-Laure, Blondel, Sophie, Cicero, Alessandra Lo, Jaskowiak, Anne-Laure, Navarro, Claire, Sandre-Giovannoli, Annachiara De, Levy, Nicolas, Peschanski, Marc, Nissan, Xavier

Journal:

npj Aging and Mechanisms of Disease

Year:

2016

Language:

english

File:

PDF, 2.11 MB

english, 2016

8

Founder Effect and Estimation of the Age of the c.892C>T (p.Arg298Cys) Mutation in LMNA Associated to Charcot-Marie-Tooth Subtype CMT2B1 in Families from North Western Africa

T. Hamadouche, Y. Poitelon, E. Genin, M. Chaouch, M. Tazir, N. Kassouri, S. Nouioua, A. Chaouch, I. Boccaccio, T. Benhassine, A. De Sandre-Giovannoli, D. Grid, N. Lévy, V. Delague

Journal:

Annals of Human Genetics

Year:

2008

Language:

english

File:

PDF, 487 KB

english, 2008

9

An inherited LMNA gene mutation in atypical progeria syndrome

Yassamine Doubaj, Annachiara De Sandre-Giovannoli, Esteves-Vieira Vera, Claire Laure Navarro, Siham Chafai Elalaoui, Mariam Tajir, Nicolas Lévy, Abdelaziz Sefiani

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 357 KB

english, 2012

10

A conserved splicing mechanism of the LMNA gene controls premature aging

Lopez-Mejia, I. C., Vautrot, V., De Toledo, M., Behm-Ansmant, I., Bourgeois, C. F., Navarro, C. L., Osorio, F. G., Freije, J. M. P., Stevenin, J., De Sandre-Giovannoli, A., Lopez-Otin, C., Levy, N., B

Journal:

Human Molecular Genetics

Year:

2011

Language:

english

File:

PDF, 696 KB

english, 2011

11

Lamine A comme marqueur pronostique dans les adénocarcinomes bronchiques métastatiques : étude in vivo à partir d’épanchements pleuraux métastatiques

Guinde, J., Kaspi, E., Frankel, D., Perrin, S., Laroumagne, S., Robaglia-Schlupp, A., Ostacolo, K., Harhouri, K., Tazi-Mezalek, R., Micallef, J., Dutau, H., Tomasini, P., De Sandre-Giovannoli, A., Lev

Journal:

Revue des Maladies Respiratoires

Year:

2018

Language:

french

File:

PDF, 77 KB

french, 2018

12

Syndrome sclérodermiforme de l’enfant : penser à la progeria

Bellon, N., Cordoliani, F., De Sandre-Giovannoli, A., Bourrat, E., Bagot, M., Despontin, K., Rybojad, M.

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2013

Language:

french

File:

PDF, 63 KB

french, 2013

13

Bone-setting.

Bellon, N., Cordoliani, F., De Sandre-Giovannoli, A., Bourrat, E., Bagot, M., Despontin, K., Rybojad, M.

Journal:

Year:

1910

Language:

english

File:

PDF, 294 KB

english, 1910

14

An association of Hutchinson–Gilford progeria and malignancy

Stavit A. Shalev, Annachiara De Sandre-Giovannoli, Ayelet Adir Shani, Nicolas Levy

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 158 KB

english, 2007

15

Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective

Cau, Pierre, Navarro, Claire, Harhouri, Karim, Roll, Patrice, Sigaudy, Sabine, Kaspi, Elise, Perrin, Sophie, De Sandre-Giovannoli, Annachiara, Lévy, Nicolas

Journal:

Seminars in Cell & Developmental Biology

Year:

2014

Language:

english

File:

PDF, 5.51 MB

english, 2014

16

Homozygous Defects In Lmna, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy In Human (Charcot-Marie-Tooth Disorder Type 2) And Mouse

A De Sandre-Giovannoli, M Chaouch, S Kozlov, JM Vallat, M Tazir, N Kassouri, P Szepetowski, T Hammadouche, A Vandenberghe, CL Stewart, D Grid, N. Levy

Journal:

Journal of the Peripheral Nervous System

Year:

2002

Language:

english

File:

PDF, 74 KB

english, 2002

17

LMNA , ZMPSTE24 , and LBR Are Not Mutated in Scleroderma

Gaudy-Marqueste, Caroline, Boyer, Amandine, Navarro, Claire, Rouzier, Cécile, Harley, Jean Robert, Weiller, Pierre-Jean, Grob, Jean-Jacques, Levy, Nicolas, De Sandre-Giovannoli, Annachiara

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2009

Language:

english

File:

PDF, 87 KB

english, 2009

18

Antisense-Based Progerin Downregulation in HGPS-Like Patients’ Cells

Harhouri, Karim, Navarro, Claire, Baquerre, Camille, Da Silva, Nathalie, Bartoli, Catherine, Casey, Frank, Mawuse, Guedenon, Doubaj, Yassamine, Lévy, Nicolas, De Sandre-Giovannoli, Annachiara

Journal:

Year:

2016

Language:

english

File:

PDF, 2.25 MB

english, 2016

19

A Collodion Baby with Facial Dysmorphism, Limb Anomalies, Pachygyria and Genital Hypoplasia: A Mild Form of Neu-Laxova Syndrome or a New Entity?

Özcan, Deren, Derbent, Murat, Seçkin, Deniz, Bikmaz, Yunus Emre, Ağildere, Muhteşem, De Sandre-Giovannoli, Annachiara, Lévy, Nicolas, Gürakan, Berkan

Journal:

Annals of Dermatology

Year:

2013

Language:

english

File:

PDF, 569 KB

english, 2013

20

P131 Une forme bien particulière de lipodystrophie : quand le VIH et la génétique s’en mêlent.

N. Dubois, E. Salort-Campana, A. De Sandre-Giovannoli, R. Valéro, B. Vialettes

Journal:

Diabetes & Metabolism

Year:

2012

Language:

french

File:

PDF, 66 KB

french, 2012

21

Lamin A/C gene (LMNA) mutation associated with laminopathy: a rare cause of idiopathic acro-osteolysis

Lambert, Julie-Charlotte, Baudart, Pauline, De Sandre-Giovannoli, Annachiara, Molin, Arnaud, Marcelli, Christian

Journal:

Joint Bone Spine

Year:

2018

Language:

english

File:

PDF, 536 KB

english, 2018

22

Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature

Robert Smigiel, Aleksandra Jakubiak, Vera Esteves-Vieira, Katarzyna Szela, Agnieszka Halon, Tomasz Jurek, Nicolas Lévy, Annachiara De Sandre-Giovannoli

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 219 KB

english, 2010

23

Tight skin and limited joint movements as early presentation of Hutchinson-Gilford progeria in a 7-week-old infant

Lieve Sevenants, Carine Wouters, Annachiara De Sandre-Giovannoli, Hugo Devlieger, Koen Devriendt, Joost J. van den Oord, Karel Marien, Nicolas Lévy, Marie-Anne Morren

Journal:

European Journal of Pediatrics

Year:

2005

Language:

english

File:

PDF, 352 KB

english, 2005

24

Pathological modelling of pigmentation disorders associated with Hutchinson-Gilford Progeria Syndrome (HGPS) revealed an impaired melanogenesis pathway in iPS-derived melanocytes

Lo Cicero, Alessandra, Saidani, Manoubia, Allouche, Jennifer, Egesipe, Anne Laure, Hoch, Lucile, Bruge, Celine, Sigaudy, Sabine, De Sandre-Giovannoli, Annachiara, Levy, Nicolas, Baldeschi, Christine,

Journal:

Scientific Reports

Year:

2018

Language:

english

File:

PDF, 2.02 MB

english, 2018

25

An overview of treatment strategies for Hutchinson-Gilford Progeria Syndrome

Harhouri, Karim, Frankel, Diane, Bartoli, Catherine, Roll, Patrice, De Sandre-Giovannoli, Annachiara, Lévy, Nicolas

Journal:

Nucleus (Landes Bioscience)

Year:

2018

Language:

english

File:

PDF, 2.99 MB

english, 2018

26

HGPS and related premature aging disorders: From genomic identification to the first therapeutic approaches

Sandrine Pereira, Patrice Bourgeois, Claire Navarro, Vera Esteves-Vieira, Pierre Cau, Annachiara De Sandre-Giovannoli, Nicolas Lévy

Journal:

Mechanisms of Ageing and Development

Year:

2008

Language:

english

File:

PDF, 787 KB

english, 2008

27

MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies

Frankel, Diane, Delecourt, Valérie, Harhouri, Karim, De Sandre-Giovannoli, Annachiara, Lévy, Nicolas, Kaspi, Elise, Roll, Patrice

Journal:

Year:

2018

Language:

english

File:

PDF, 772 KB

english, 2018

28

Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies

Rafaëlle Bernard, Annachiara De Sandre-Giovannoli, Valérie Delague, Nicolas Lévy

Journal:

NeuroMolecular Medicine

Year:

2006

Language:

english

File:

PDF, 525 KB

english, 2006

29

G.P.4.02 Pathophysiological mechanisms of lamin A/C associated Charcot-Marie-Tooth disease (CMT2B1/ARCMT2)

Y. Poitelon, T. Hamadouche, A. De Sandre-Giovannoli, S. Kozlov, N. Serradj, M. Tazir, M. Chaouch, D. Grid, C. Stewart, M. Jamon, V. Delague, N. Lévy

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 46 KB

english, 2006

30

Novel LMNA Mutation in Atypical Werner Syndrome Presenting With Ischemic Disease

Renard, D., Fourcade, G., Milhaud, D., Bessis, D., Esteves-Vieira, V., Boyer, A., Roll, P., Bourgeois, P., Levy, N., De Sandre-Giovannoli, A.

Journal:

Year:

2009

Language:

english

File:

PDF, 489 KB

english, 2009

31

Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation

Massart, Catherine, De Sandre-Giovannoli, Annachiara, Cadiñanos, Juan, Mamchaoui, Kamel, Butler-Browne, Gillian, Estournet, Brigitte, Yaou, Rabah Ben, Navarro, Claire, Quijano-Roy, Susana, Bertrand, A

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 988 KB

english, 2011

32

The phenotypic manifestations of autosomal recessive axonalCharcot–Marie–Tooth due to a mutation in Lamin A/C gene

M. Chaouch, Y. Allal, A. De Sandre-Giovannoli, J.M. Vallat, A. Amer-el-Khedoud, N. Kassouri, A. Chaouch, P. Sindou, T. Hammadouche, M. Tazir, N. Lévy, D. Grid

Journal:

Neuromuscular Disorders

Year:

2003

Language:

english

File:

PDF, 176 KB

english, 2003

33

A High Throughput Phenotypic Screening reveals compounds that counteract premature osteogenic differentiation of HGPS iPS-derived mesenchymal stem cells

Lo Cicero, Alessandra, Jaskowiak, Anne-Laure, Egesipe, Anne-Laure, Tournois, Johana, Brinon, Benjamin, Pitrez, Patricia R., Ferreira, Lino, de Sandre-Giovannoli, Annachiara, Levy, Nicolas, Nissan, Xav

Journal:

Scientific Reports

Year:

2016

Language:

english

File:

PDF, 1.82 MB

english, 2016

34

Induced Pluripotent Stem Cells Reveal Functional Differences Between Drugs Currently Investigated in Patients With Hutchinson-Gilford Progeria Syndrome

Blondel, S., Jaskowiak, A.-L., Egesipe, A.-L., Le Corf, A., Navarro, C., Cordette, V., Martinat, C., Laabi, Y., Djabali, K., de Sandre-Giovannoli, A., Levy, N., Peschanski, M., Nissan, X.

Journal:

Stem Cells Translational Medicine

Year:

2014

Language:

english

File:

PDF, 2.25 MB

english, 2014

35

A novel overlapping phenotype characterized by lipodystrophy, mandibular dysplasia, and dilated cardiomyopathy associated with a new mutation in the LMNA gene

Ambrosi, Pierre, Kreitmann, Bernard, Lepidi, Hubert, Habib, Gilbert, Levy, Nicolas, Philip, Nicole, De Sandre-Giovannoli, Annachiara

Journal:

International Journal of Cardiology

Year:

2016

Language:

english

File:

PDF, 761 KB

english, 2016

36

Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective

Cau, Pierre, Navarro, Claire, Harhouri, Karim, Roll, Patrice, Sigaudy, Sabine, Kaspi, Elise, Perrin, Sophie, De Sandre-Giovannoli, Annachiara, Lévy, Nicolas

Journal:

Seminars in Cell & Developmental Biology

Year:

2014

Language:

english

File:

PDF, 2.83 MB

english, 2014

37

Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome

Bárcena, Clea, Quesada, Víctor, De Sandre-Giovannoli, Annachiara, Puente, Diana A, Fernández-Toral, Joaquín, Sigaudy, Sabine, Baban, Anwar, Lévy, Nicolas, Velasco, Gloria, López-Otín, Carlos

Journal:

BMC Medical Genetics

Year:

2014

Language:

english

File:

PDF, 548 KB

english, 2014

38

Unique Preservation of Neural Cells in Hutchinson- Gilford Progeria Syndrome Is Due to the Expression of the Neural-Specific miR-9 MicroRNA

Xavier Nissan, Sophie Blondel, Claire Navarro, Yves Maury, Cécile Denis, Mathilde Girard, Cécile Martinat, Annachiara De Sandre-Giovannoli, Nicolas Levy, Marc Peschanski

Journal:

Year:

2012

Language:

english

File:

PDF, 3.50 MB

english, 2012

39

Substrate Topography Modulates Cell Aging on a Progeria Cell Model

Pitrez, Patricia R., Estronca, Luís, Vazão, Helena, Egesipe, Anna-Laure, Le Corf, Amélie, Navarro, Claire, Levy, Nicolas, De Sandre-Giovannoli, Annachiara, Nissan, Xavier, Ferreira, Lino Silva

Journal:

ACS Biomaterials Science & Engineering

Year:

2018

Language:

english

File:

PDF, 1.53 MB

english, 2018

40

Première réunion franco-italienne des laminopathies et autres pathologies liées à l’enveloppe nucléaire

Yaou, Rabah Ben, De Sandre-Giovannoli, Annachiara, Leturcq, France, Lévy, Nicolas, Bonne, Gisèle

Journal:

médecine/sciences

Year:

2015

Language:

french

File:

PDF, 759 KB

french, 2015

41

Homozygous Defects in LMNA, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy in Human (Charcot-Marie-Tooth Disorder Type 2) and Mouse

Annachiara De Sandre-Giovannoli, Malika Chaouch, Serguei Kozlov, Jean-Michel Vallat, Meriem Tazir, Nadia Kassouri, Pierre Szepetowski, Tarik Hammadouche, Antoon Vandenberghe, Colin L. Stewart, Djamel

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 980 KB

english, 2002

42

Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations

De Sandre-Giovannoli, A

Journal:

Journal of Medical Genetics

Year:

2003

Language:

english

File:

PDF, 677 KB

english, 2003

43

Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies

Rafaëlle Bernard, Annachiara De Sandre-Giovannoli, Valérie Delague, Nicolas Lévy

Journal:

NeuroMolecular Medicine

Year:

2006

Language:

english

File:

PDF, 525 KB

english, 2006

44

A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis

Stanislas Faguer, Annachiara De Sandre-Giovannoli, Michèle Hemery, Nicolas Lévy, Laurence Lamant, Benoît Arveiler, Caroline Rooryck, Cathie Prouheze, Adeline Vigouroux, Dominique Chauveau, Patrick Cal

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 528 KB

english, 2011

45

Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: Two newly recognized patients with premature aging syndrome, penttinen type

Zufferey, Flore, Hadj-Rabia, Smaïl, De Sandre-Giovannoli, Annachiara, Dufier, Jean-Louis, Leheup, Bruno, Schweitze, Cyril, Bodemer, Christine, Cormier-Daire, Valérie, Le Merrer, Martine

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 435 KB

english, 2013

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