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1

Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: A developmental “neural crest syndrome” related to a SOX10 mutation

Véronique Pingault, Anne Guiochon-Mantel, Nadège Bondurand, Christophe Faure, Catherine Lacroix, Stanislas Lyonnet, Michel Goossens, Pierre Landrieu

Journal:

Annals of Neurology

Year:

2000

Language:

english

File:

PDF, 17.81 MB

english, 2000

2

Isolation and characterisation of cDNA clones representing the genes encoding the major tuber storage protein (dioscorin) of yam (Dioscorea cayenensisLam.)

R. Steven Conlan, Leslie-Ann Griffiths, Johnathan A Napier, Peter R Shewry, Sinclair Mantell, Charles Ainsworth

Journal:

Plant Molecular Biology

Year:

1995

Language:

english

File:

PDF, 1.09 MB

english, 1995

3

Significant Prevalence of NR3C1 Mutations in incidentally discovered Bilateral Adrenal Hyperplasia: Results of the French MUTA-GR Study.

Vitellius, Geraldine, Trabado, Séverine, Hoeffel-fornes, Christine, Bouligand, Jerome, Bennet, Antoine, Castinetti, Frédéric, Decoudier, Bénédicte, Guiochon-Mantel, Anne, Lombes, Marc, Delemer, Brigit

Journal:

European Journal of Endocrinology

Year:

2018

Language:

english

File:

PDF, 2.16 MB

english, 2018

4

FAP in India: a first genetically proven case

Pan, Daniel, Bouligand, Jérôme, Guiochon-Mantel, Anne, Adams, David

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 261 KB

english, 2015

5

Teachings from the French database of TTR familial amyloidotic polyneuropathy (TTR-FAP): large genetic and phenotypic heterogeneity, usefulness of TTR gene testing.

Adams, David, Cauquil, Cecile, Adam, Clovis, Labeyrie, Celie, Beaudonnet, Guillemette, Mantel, Anne, Theaudin, Marie

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 223 KB

english, 2015

6

Le rôle du neuropeptide GnRH dans la cascade gonadotrope enfin validé dans l’espèce humaine

Bouligand, Jérôme, Guiochon-Mantel, Anne, Young, Jacques

Journal:

médecine/sciences

Year:

2009

Language:

french

File:

PDF, 67 KB

french, 2009

7

Evaluation of intrafraction prostate motion tracking using the Clarity Autoscan system for safety margin validation

Richter, Anne, Exner, Florian, Weick, Stefan, Lawrenz, Ingulf, Polat, Bülent, Flentje, Michael, Mantel, Frederick

Journal:

Zeitschrift für Medizinische Physik

Year:

2020

File:

PDF, 1.02 MB

2020

8

Structural analysis of the impact of a novel androgen receptor gene mutation in two adult patients with mild androgen insensitivity syndrome

Hage, Mirella, Drui, Delphine, Francou, Bruno, Mercier, Sandra, GuiochonâMantel, Anne, BelaischâAllart, Joelle, PÃ©rÃ©on, Yann, Cazabat, Laure, De Mazancourt, Philippe, RaffinâSanson, Marie Laur

Journal:

Year:

2020

File:

PDF, 766 KB

2020

9

Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease

Yesim Parman, Violaine Planté-Bordeneuve, Anne Guiochon-Mantel, Mefkure Eraksoy, Gérard Said

Journal:

Annals of Neurology

Year:

1999

Language:

english

File:

PDF, 4.44 MB

english, 1999

10

Serpentine fibula-polycystic kidney syndrome caused by truncating mutations in NOTCH2

Bertrand Isidor, Martine Le Merrer, G. Ulrich Exner, Olivier Pichon, Gaelle Thierry, Anne Guiochon-Mantel, Albert David, Valérie Cormier-Daire, Cédric Le Caignec

Journal:

Year:

2011

Language:

english

File:

PDF, 156 KB

english, 2011

11

RANK (receptor activator of nuclear factor-κB) and RANKL expression in multiple myeloma

Sophie Roux, Véronique Meignin, Jeanine Quillard, Geri Meduri, Anne Guiochon-Mantel, Jean-Paul Fermand, Edwin Milgrom, Xavier Mariette

Journal:

British Journal of Haematology

Year:

2002

Language:

english

File:

PDF, 251 KB

english, 2002

12

Alagille syndrome and nephroblastoma: Unusual coincidence of two rare disorders

Franck Bourdeaut, Anne Guiochon-Mantel, Monique Fabre, Hélène Martelli, Catherine Patte, Gilda Porta, Olivier Bernard, Olivier Delattre, Emmanuel Jacquemin

Journal:

Pediatric Blood & Cancer

Year:

2008

Language:

english

File:

PDF, 419 KB

english, 2008

13

Submicroscopic deletions of 17p13.3 in type 1 Lissencephaly

Anne Mantel, Claude Leonard, Béatrice Husson, Najoua Miladi, Marc Tardieu, Pierre Landrieu

Journal:

Year:

1994

Language:

english

File:

PDF, 285 KB

english, 1994

14

The range of chronic demyelinating neuropathy of infancy: a clinico-pathological and genetic study of 15 unrelated cases

Violaine Planté-Bordeneuve, Yesim Parman, Anne Guiochon-Mantel, Youssef Alj, Feza Deymeer, Piraye Serdaroglu, Mefkure Eraksoy, Gérard Said

Journal:

Journal of Neurology

Year:

2001

Language:

english

File:

PDF, 515 KB

english, 2001

15

Regulation of the Progesterone Receptor Functions

JEAN-FRANCÇOIS SAVOURET, CHRISTIAN MUCHARDT, MONIQUE QUESNE, ANNE MANTEL, HUGUES DE THE, EDWIN MILGROM

Journal:

Annals of the New York Academy of Sciences

Year:

1998

Language:

english

File:

PDF, 169 KB

english, 1998

16

Receptors bound to antiprogestin form abortive complexes with hormone responsive elements

Milgrom, Edwin, Guiochon-Mantel, Anne, Loosfelt, Hugues, Ragot, Thierry, Bailly, Alain, Atger, Michel, Misrahi, Micheline, Perricaudet, Michel

Journal:

Year:

1988

File:

PDF, 451 KB

1988

17

Anisotropic magneto-Coulomb effects and magnetic single-electron-transistor action in a single nanoparticle

Bernand-Mantel, Anne, Seneor, Pierre, Bouzehouane, Karim, Fusil, Stéphane, Deranlot, Cyrile, Petroff, Frédéric, Fert, Albert

Journal:

Year:

2009

Language:

english

File:

PDF, 1.41 MB

english, 2009

18

The deleterious G15498A mutation in mitochondrial DNA-encoded cytochrome b may remain clinically silent in homoplasmic carriers

Haut, Sandrine, Villemeur, Thierry Billette de, Brivet, Michèle, Guiochon-Mantel, Anne, Boutron, Audrey, Rustin, Pierre, Legrand, Alain, Slama, Abdelhamid

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 96 KB

english, 2004

19

Synthesis and Application of Lactosylated, 99mTc Chelating Albumin for Measurement of Liver Function

Chaumet-Riffaud, Philippe, Martinez-Duncker, Ivan, Marty, Anne-Laure, Richard, Cyrille, Prigent, Alain, Moati, Frederic, Sarda-Mantel, Laure, Scherman, Daniel, Bessodes, Michel, Mignet, Nathalie

Journal:

Bioconjugate Chemistry

Year:

2010

Language:

english

File:

PDF, 2.20 MB

english, 2010

20

Genetics defects in GNRH1: A paradigm of hypothalamic congenital gonadotropin deficiency

Jérôme Bouligand, Cristina Ghervan, Séverine Trabado, Sylvie Brailly-Tabard, Anne Guiochon-Mantel, Jacques Young

Journal:

Year:

2010

Language:

english

File:

PDF, 371 KB

english, 2010

21

Mechanism of nucleocytoplasmic trafficking of progesterone receptor

Rakesh Kumar Tyagi, Larbi Amazit, Pierre Lescop, Edwin Milgrom, Anne Guiochon-Mantel

Journal:

Biology of the Cell

Year:

1998

Language:

english

File:

PDF, 176 KB

english, 1998

22

Alagille Syndrome in Adult Patients: It Is Never Too Late

Antoine Jacquet, Anne Guiochon-Mantel, Laure-Hélène Noël, Tarik Sqalli, Pierre Bedossa, Michelle Hadchouel, Jean-Pierre Grünfeld, Fadi Fakhouri

Journal:

American Journal of Kidney Diseases

Year:

2007

Language:

english

File:

PDF, 601 KB

english, 2007

23

Complete amino acid sequence of the human progesterone receptor deduced from cloned cDNA

Micheline Misrahi, Michel Atger, Luc d'Auriol, Hugues Loosfelt, Cécile Meriel, Françoise Fridlansky, Anne Guiochon-Mantel, Francis Galibert, Edwin Milgrom

Journal:

Biochemical and Biophysical Research Communications

Year:

1987

Language:

english

File:

PDF, 745 KB

english, 1987

24

Cloning, sequencing and expression of human TSH receptor

Micheline Misrahi, Hugues Loosfelt, Michel Atger, Sokhavuth Sar, Anne Guiochon-Mantel, Edwin Milgrom

Journal:

Biochemical and Biophysical Research Communications

Year:

1990

Language:

english

File:

PDF, 1.03 MB

english, 1990

25

Cytoplasmic-nuclear trafficking of progesterone receptor In vivo study of the mechanism of action of antiprogestins

Anne Guiochon-Mantel, Karine Delabre, Pierre Lescop, Martine Perrot-Applanat, Edwin Milgrom

Journal:

Biochemical Pharmacology

Year:

1994

Language:

english

File:

PDF, 443 KB

english, 1994

26

Peripheral Exudative Hemorrhagic Chorioretinopathy: Polypoidal Choroidal Vasculopathy and Hemodynamic Modifications

Irmela Mantel, Ann Schalenbourg, Leonidas Zografos

Journal:

American Journal of Ophthalmology

Year:

2012

Language:

english

File:

PDF, 4.67 MB

english, 2012

27

Estradiol levels in men with congenital hypogonadotropic hypogonadism and the effects of different modalities of hormonal treatment

Séverine Trabado, Luigi Maione, Sylvie Salenave, Stéphanie Baron, Françoise Galland, Hélène Bry-Gauillard, Anne Guiochon-Mantel, Philippe Chanson, Nelly Pitteloud, Antonio Agostino Sinisi, Sylvie Brai

Journal:

Fertility and Sterility

Year:

2011

Language:

english

File:

PDF, 315 KB

english, 2011

28

Neuropathic leg ulcer indicating late adult-onset of Charcot-Marie-Tooth disease

Arnaud Duval, Nassos Kalempokas, Anne Penicaud-Védrine, Anne Guiochon-Mantel, Claude Bachmeyer

Journal:

Journal of the American Academy of Dermatology

Year:

2011

Language:

english

File:

PDF, 295 KB

english, 2011

29

Does the progesterone receptor genetic polymorphism +331G/A hPR influence the risk of venous thromboembolism among postmenopausal women using hormone therapy? The ESTHER Study

Elodie Bouaziz, Marianne Canonico, Céline Verstuyft, Laure Carcaillon, Frédéric Martin, Pierre-Yves Scarabin, Anne Guiochon-Mantel

Journal:

Year:

2009

Language:

english

File:

PDF, 122 KB

english, 2009

30

Low plasma testosterone and elevated carotid intima-media thickness: Importance of low-grade inflammation in elderly men

Véronique Soisson, Sylvie Brailly-Tabard, Jean-Philippe Empana, Catherine Féart, Joanne Ryan, Marion Bertrand, Anne Guiochon-Mantel, Pierre-Yves Scarabin

Journal:

Atherosclerosis

Year:

2012

Language:

english

File:

PDF, 189 KB

english, 2012

31

Hereditary persistence of α-fetoprotein is due to both proximal and distal hepatocyte nuclear factor-1 site mutations

Youssef Alj, Maria Georgiakaki, Jean-François Savouret, FrÉdÉric Mal, Pierre Attali, Gilles Pelletier, Catherine Fourré, Edwin Milgrom, Catherine Buffet, Anne Guiochon-Mantel, Gabriel Perlemuter

Journal:

Gastroenterology

Year:

2004

Language:

english

File:

PDF, 298 KB

english, 2004

32

Reply

Gabriel Perlemuter, Youssef Alj, Catherine Buffet, Anne Guiochon–mantel

Journal:

Gastroenterology

Year:

2004

Language:

english

File:

PDF, 61 KB

english, 2004

33

Endogenous oestradiol as a positive correlate of plasma fibrinogen among older postmenopausal women: a population-based study (the Three-City cohort study)

Canonico, Marianne, Brailly-Tabard, Sylvie, Gaussem, Pascale, Setiao, Julie, Rouaud, Olivier, Ryan, Joanne, Carcaillon, Laure, Guiochon-Mantel, Anne, Scarabin, Pierre-Yves

Journal:

Clinical Endocrinology

Year:

2012

Language:

english

File:

PDF, 153 KB

english, 2012

34

NR5A1 (SF-1) Mutations Are Not a Major Cause of Primary Ovarian Insufficiency

Voican, Adela, Bachelot, Anne, Bouligand, Jérôme, Francou, Bruno, Dulon, Jérôme, Lombès, Marc, Touraine, Philippe, Guiochon-Mantel, Anne

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2013

Language:

english

File:

PDF, 430 KB

english, 2013

35

Nanospintronics: when spintronics meets single electron physics

Seneor, Pierre, Bernand-Mantel, Anne, Petroff, Frédéric

Journal:

Journal of Physics Condensed Matter

Year:

2007

Language:

english

File:

PDF, 1.28 MB

english, 2007

36

Evanescent vaso-occlusive choroidal pseudo-tumor with acute painful onset: a presumed vortex vein occlusion

Mantel, Irmela, Schalenbourg, Ann, Zografos, Leonidas

Journal:

Graefe's Archive for Clinical and Experimental Ophthalmology

Year:

2014

Language:

english

File:

PDF, 648 KB

english, 2014

37

Analysis of AP2S1 , a Calcium-Sensing Receptor Regulator, in Familial and Sporadic Isolated Hypoparathyroidism

Lambert, Anne-Sophie, Grybek, Virginie, Francou, Bruno, Esterle, Laure, Bertrand, Guylène, Bouligand, Jérôme, Guiochon-Mantel, Anne, Hieronimus, Sylvie, Voitel, Dorit, Soskin, Sylvie, Magdelaine, Cori

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2014

File:

PDF, 154 KB

2014

38

Intracellular traffic of steroid hormone receptors

Guiochon-Mantel, Anne, Delabre, Karine, Lescop, Pierre, Milgrom, Edwin

Journal:

The Journal of Steroid Biochemistry and Molecular Biology

Year:

1996

Language:

english

File:

PDF, 789 KB

english, 1996

39

Mechanisms of nuclear localization of the progesterone receptor

Gyiochon-Mantel, Anne, Loosfelt, Hugues, Lescop, Pierre, Christin-Maitre, Sophie, Perrot-Applanat, Martine, Milgrom, Edwin

Journal:

The Journal of Steroid Biochemistry and Molecular Biology

Year:

1992

Language:

english

File:

PDF, 619 KB

english, 1992

40

Low testosterone and the risk of dementia in elderly men: Impact of age and education

Carcaillon, Laure, Brailly-Tabard, Sylvie, Ancelin, Marie-Laure, Tzourio, Christophe, Foubert-Samier, Alexandra, Dartigues, Jean-François, Guiochon-Mantel, Anne, Scarabin, Pierre-Yves

Journal:

Alzheimer's & Dementia

Year:

2014

Language:

english

File:

PDF, 719 KB

english, 2014

41

Mechanisms of nuclear localization of the progesterone receptor: Evidence for interaction between monomers

Guiochon-Mantel, Anne, Loosfelt, Hugues, Lescop, Pierre, Sar, Sokhavuth, Atger, Michel, Perrot-Applanat, Martine, Milgrom, Edwin

Journal:

Year:

1989

Language:

english

File:

PDF, 1.82 MB

english, 1989

42

Cloning and Sequence Analysis of Rabbit Progesterone-Receptor Complementary DNA

Hugues Loosfelt, Michel Atger, Micheline Misrahi, Anne Guiochon-Mantel, Cécile Meriel, Frédérique Logeat, Richard Benarous and Edwin Milgrom

Journal:

Proceedings of the National Academy of Sciences

Year:

1986

Language:

english

File:

PDF, 1.03 MB

english, 1986

43

Cytoplasmic-nuclear trafficking of steroid hormone receptors

Guiochon-Mantel, Anne, Milgrom, Edwin

Journal:

Trends in Endocrinology & Metabolism

Year:

1993

Language:

english

File:

PDF, 1.04 MB

english, 1993

44

A J-shaped association between plasma testosterone and risk of ischemic arterial event in elderly men: The French 3C cohort study

Soisson, Véronique, Brailly-Tabard, Sylvie, Helmer, Catherine, Rouaud, Olivier, Ancelin, Marie-Laure, Zerhouni, Chahinez, Guiochon-Mantel, Anne, Scarabin, Pierre-Yves

Journal:

Year:

2013

Language:

english

File:

PDF, 525 KB

english, 2013

45

Neonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism

Bouvattier, Claire, Maione, Luigi, Bouligand, Jérôme, Dodé, Catherine, Guiochon-Mantel, Anne, Young, Jacques

Journal:

Nature Reviews Endocrinology (formerly Nature Clinical Practice Endocrinology & Metabolism)

Year:

2011

Language:

english

File:

PDF, 589 KB

english, 2011

46

Prophylactic Use of Bevacizumab to Avoid Anterior Segment Neovascularization Following Proton Therapy for Uveal Melanoma

Mantel, Irmela, Schalenbourg, Ann, Bergin, Ciara, Petrovic, Aleksandra, Weber, Damien C., Zografos, Leonidas

Journal:

American Journal of Ophthalmology

Year:

2014

Language:

english

File:

PDF, 2.05 MB

english, 2014

47

Genetic mutations in sporadic pituitary adenomas—what to screen for?

Lecoq, Anne-Lise, Kamenický, Peter, Guiochon-Mantel, Anne, Chanson, Philippe

Journal:

Nature Reviews Endocrinology (formerly Nature Clinical Practice Endocrinology & Metabolism)

Year:

2014

Language:

english

File:

PDF, 901 KB

english, 2014

48

Ab initio solid-state heats of formation of molecular salts from ion packing and crystal modelling: application to ammonium crystals

Beaucamp, Sylvain, Bernand-Mantel, Anne, Mathieu, Didier, Agafonov, Viatcheslav

Journal:

Molecular Physics

Year:

2004

Language:

english

File:

PDF, 141 KB

english, 2004

49

Plasma Estrogen Levels, Estrogen Receptor Gene Variation, and Ischemic Arterial Disease in Postmenopausal Women: The Three-City Prospective Cohort Study

Scarabin-Carré, Valérie, Brailly-Tabard, Sylvie, Ancelin, Marie-Laure, Maubaret, Cécilia, Guiochon-Mantel, Anne, Canonico, Marianne, Scarabin, Pierre-Yves

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2014

Language:

english

File:

PDF, 103 KB

english, 2014

50

New NOBOX Mutations Identified in a Large Cohort of Women With Primary Ovarian Insufficiency Decrease KIT-L Expression

Bouilly, Justine, Roucher-Boulez, Florence, Gompel, Anne, Bry-Gauillard, Hélène, Azibi, Kemal, Beldjord, Cherif, Dodé, Catherine, Bouligand, Jérôme, Mantel, Anne Guiochon, Hécart, Annie-Claude, Deleme

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2015

Language:

english

File:

PDF, 359 KB

english, 2015

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