Bellanne: search on Z-Library

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1

NF1 Molecular Characterization and Neurofibromatosis Type I Genotype-Phenotype Correlation: The French Experience

Sabbagh, Audrey, Pasmant, Eric, Imbard, Apolline, Luscan, Armelle, Soares, Magali, Blanché, Hélène, Laurendeau, Ingrid, Ferkal, Salah, Vidaud, Michel, Pinson, Stéphane, Bellanné-Chantelot, Christine,

Journal:

Year:

2013

Language:

english

File:

PDF, 668 KB

english, 2013

2

Diabètes de type MODY

Timsit, J., Bellanné-Chantelot, C., Velho, G.

Journal:

EMC - Endocrinologie - Nutrition

Year:

2006

Language:

french

File:

PDF, 138 KB

french, 2006

3

Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia

Kara K. Osbak, Kevin Colclough, Cecile Saint-Martin, Nicola L. Beer, Christine Bellanné-Chantelot, Sian Ellard, Anna L. Gloyn

Journal:

Year:

2009

Language:

english

File:

PDF, 280 KB

english, 2009

4

Diabètes mitochondriaux

Guillausseau, P.-J., Laloi-Michelin, M., Meas, T., Virally, M., Bitu, J., Massin, P., Bellanné-Chantelot, C., Timsit, J.

Journal:

EMC - Endocrinologie - Nutrition

Year:

2012

Language:

french

File:

PDF, 249 KB

french, 2012

5

Searching for Maturity-Onset Diabetes of the Young (MODY): When and What for?

Timsit, José, Saint-Martin, Cécile, Dubois-Laforgue, Danièle, Bellanné-Chantelot, Christine

Journal:

Canadian Journal of Diabetes

Year:

2016

File:

PDF, 282 KB

2016

6

Diabètes mitochondriaux

P.-J. Guillausseau, M. Laloi-Michelin, M. Virally, P. Massin, C. Bellanne-Chantelot, J. Timsit

Journal:

EMC - Endocrinologie

Year:

2005

File:

PDF, 178 KB

2005

7

Congenital neutropenia: diagnosis, molecular bases and patient management

Jean Donadieu, Odile Fenneteau, Blandine Beaupain, Nizar Mahlaoui, Christine Bellanné Chantelot

Journal:

Orphanet Journal of Rare Diseases

Year:

2011

Language:

english

File:

PDF, 649 KB

english, 2011

8

Mutation screening in 18 Caucasian families suggest the existence of other MODY genes

J.-C. Chèvre, E. H. Hani, P. Boutin, M. Vaxillaire, H. Blanché, N. Vionnet, V. C. Pardini, J. Timsit, E. Larger, G. Charpentier, D. Beckers, M. Maes, C. Bellanné-Chantelot, G. Velho, P. Froguel

Journal:

Year:

1998

Language:

english

File:

PDF, 229 KB

english, 1998

9

Update of mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism

Sarah E. Flanagan, Séverine Clauin, Christine Bellanné-Chantelot, Pascale de Lonlay, Lorna W. Harries, Anna L. Gloyn, Sian Ellard

Journal:

Year:

2009

Language:

english

File:

PDF, 276 KB

english, 2009

10

Nucleotide structure of the Scytalidium hyalinum and Scytalidium dimidiatum 18S subunit ribosomal RNA gene: evidence for the insertion of a group IE intron in the rDNA gene of S. dimidiatum

Marie Machouart-Dubach, Claire Lacroix, Christelle Vaury, Martine Feuilhade de Chauvin, Christine Bellanné, Francis Derouin, Frédéric Lorenzo

Journal:

FEMS Microbiology Letters

Year:

2002

Language:

english

File:

PDF, 551 KB

english, 2002

11

The JAK2V617F mutation may be present several years before the occurrence of overt myeloproliferative disorders

Bellanné-Chantelot, C, Jego, P, Lionne-Huyghe, P, Tulliez, M, Najman, A

Journal:

Year:

2007

Language:

english

File:

PDF, 92 KB

english, 2007

12

O100 Description clinique d’un diabète de l’adulte associé à une mutation du gène ABCC8

J.P. Riveline, A. Simon, A. Hartemann-Heurtier, E. Rousseau, C. Carette, J. Timsit, M. Vaxillaire, C. Saint-Martin, Y. Reznik, G. Charpentier, C. Bellanné-Chantelot, M. Polak

Journal:

Diabetes & Metabolism

Year:

2009

Language:

french

File:

PDF, 76 KB

french, 2009

13

In Vitro Recovery of ATP-Sensitive Potassium Channels in -Cells From Patients With Congenital Hyperinsulinism of Infancy

Powell, P. D., Bellanne-Chantelot, C., Flanagan, S. E., Ellard, S., Rooman, R., Hussain, K., Skae, M., Clayton, P., de Lonlay, P., Dunne, M. J., Cosgrove, K. E.

Journal:

Year:

2011

Language:

english

File:

PDF, 1018 KB

english, 2011

14

Intellectual disability in patients with MODY due to hepatocyte nuclear factor 1B (HNF1B) molecular defects

Dubois-Laforgue, D., Bellanné-Chantelot, C., Charles, P., Jacquette, A., Larger, E., Ciangura, C., Saint-Martin, C., Rastel, C., Keren, B., Timsit, J.

Journal:

Diabetes & Metabolism

Year:

2016

Language:

english

File:

PDF, 392 KB

english, 2016

15

Hyperinsulinemic hypoglycemia without insulinoma: Think of activating glucokinase mutation

Jannin, Arnaud, Espiard, Stéphanie, Douillard, Claire, Pasquier, Florence, Bellanné-Chantelot, Christine, Vantyghem, Marie-Christine

Journal:

La Presse Médicale

Year:

2018

Language:

english

File:

PDF, 768 KB

english, 2018

16

Severe Congenital Adrenal Hyperplasia Presenting as Bilateral Testicular Tumors and Azoospermia in the Third Decade of Life

Sarfati, Julie, Vatier, Camille, Keller, Isabelle, Guéchot, Jérome, Bellanné-Chantelot, Christine, Christin-Maitre, Sophie

Journal:

Journal of the Endocrine Society

Year:

2018

Language:

english

File:

PDF, 136 KB

english, 2018

17

La maladie de Shwachman-Diamond : devenir au long cours et prise en charge

J. Donadieu, B. Beaupain, C. Bellanné-Chantelot

Journal:

Archives de Pédiatrie

Year:

2011

Language:

french

File:

PDF, 1.52 MB

french, 2011

18

Mutations in the Genes Encoding the Transcription Factors Hepatocyte Nuclear Factor 1 Alpha and 4 Alpha in Maturity-Onset Diabetes of the Young and Hyperinsulinemic Hypoglycemia

Colclough, Kevin, Bellanne-Chantelot, Christine, Saint-Martin, Cecile, Flanagan, Sarah E., Ellard, Sian

Journal:

Year:

2013

Language:

english

File:

PDF, 1.20 MB

english, 2013

19

High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia

Pasquet, M., Bellanne-Chantelot, C., Tavitian, S., Prade, N., Beaupain, B., LaRochelle, O., Petit, A., Rohrlich, P., Ferrand, C., Van Den Neste, E., Poirel, H. A., Lamy, T., Ouachee-Chardin, M., Mansa

Journal:

Year:

2013

Language:

english

File:

PDF, 320 KB

english, 2013

20

Association of a variant in exon

André F. Reis, Wei-Zhen Ye, Danièle Dubois-Laforgue, Christine Bellanné-Chantelot, José Timsit, Gilberto Velho

Journal:

Year:

2000

Language:

english

File:

PDF, 50 KB

english, 2000

21

Exonic Duplication of the Hepatocyte Nuclear Factor-1 β Gene (Transcription Factor 2, Hepatic) as a Cause of Maturity Onset Diabetes of the Young Type 5

Carette, Claire, Vaury, Christelle, Barthélémy, Anne, Clauin, Séverine, Grünfeld, Jean-Pierre, Timsit, José, Bellanné-Chantelot, Christine

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2007

Language:

english

File:

PDF, 93 KB

english, 2007

22

Réponse insuffisante du cortisol à la stimulation par test au tetracosactide (Synacthen®) chez les patients avec hyperplasie congénitale des surrénales de forme non classique (NCCAH) : une exception à la règle ?

Stoupa, A., González Briceño, L.G., Pinto, G., Samara-Boustani, D., Flechtner, I., Thalassinos, C., Bidet, M., Simon, A., Morel, Y., Béllanné-Chantelot, C., Touraine, P., Polak, M.

Journal:

Annales d'Endocrinologie

Year:

2014

Language:

french

File:

PDF, 213 KB

french, 2014

23

Coexistence in the Same Family of Both Focal and Diffuse Forms of Hyperinsulinism

Valayannopoulos, V., Vaxillaire, M., Aigrain, Y., Jaubert, F., Bellanne-Chantelot, C., Ribeiro, M.-J., Brunelle, F., Froguel, P., Robert, J.-J., Polak, M., Nihoul-Fekete, C., de Lonlay, P.

Journal:

Year:

2007

Language:

english

File:

PDF, 108 KB

english, 2007

24

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

25

Hepatocyte Nuclear Factor-1α Gene Inactivation: Cosegregation between Liver Adenomatosis and Diabetes Phenotypes in Two Maturity-Onset Diabetes of the Young (MODY)3 Families

Reznik, Yves, Dao, Thong, Coutant, Regis, Chiche, Laurence, Jeannot, Emmanuelle, Clauin, Severine, Rousselot, Pierre, Fabre, Monique, Oberti, Frederic, Fatome, Armelle, Zucman-Rossi, Jessica, Bellanne

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2004

Language:

english

File:

PDF, 341 KB

english, 2004

26

Fertility in Women with Nonclassical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Bidet, Maud, Bellanné-Chantelot, Christine, Galand-Portier, Marie-Béatrice, Golmard, Jean-Louis, Tardy, Véronique, Morel, Yves, Clauin, Séverine, Coussieu, Christiane, Boudou, Philippe, Mowzowicz, Ire

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2010

Language:

english

File:

PDF, 109 KB

english, 2010

27

Fertility in Women with Nonclassical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Bidet, Maud, Bellanné-Chantelot, Christine, Galand-Portier, Marie-Béatrice, Golmard, Jean-Louis, Tardy, Véronique, Morel, Yves, Clauin, Séverine, Coussieu, Christiane, Boudou, Philippe, Mowzowicz, Ire

Journal:

Year:

2010

Language:

english

File:

PDF, 31 KB

english, 2010

28

Condylomatose et myélodysplasie familiales associées à une mutation du gène GATA2

Méchineaud, M., François, S., Ingster, O., Descamps, P., Bellanné-Chantelot, C., Martin, L.

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2016

Language:

french

File:

PDF, 56 KB

french, 2016

29

Two Caucasian Families with the Hepatocyte Nuclear Factor-1Alpha Mutation Tyr218Cys

Hummel, M., Vasseur, F., Mathieu, C., Bellanne-Chantelot, C., Froguel, P., Standl, E., Füchtenbusch, M.

Journal:

Experimental and Clinical Endocrinology & Diabetes

Year:

2007

Language:

english

File:

PDF, 220 KB

english, 2007

30

Genetic Alterations of the Thrombopoietin/MPL/JAK2 Axis Impacting Megakaryopoiesis

Plo, Isabelle, Bellanné-Chantelot, Christine, Mosca, Matthieu, Mazzi, Stefania, Marty, Caroline, Vainchenker, William

Journal:

Frontiers in Endocrinology

Year:

2017

Language:

english

File:

PDF, 539 KB

english, 2017

31

- to: Lindner T, Cockburn BN, Bell GI (1999) Molecular genetics of MODY in Germany. Diabetologia 42: 121–123

F. Ziemssen,C. Bellanné-Chantelot,M. Osterhoff,H. Schatz…

Journal:

Year:

2002

Language:

english

File:

PDF, 114 KB

english, 2002

32

The added value of [18F]fluoro-L-DOPA PET in the diagnosis of hyperinsulinism of infancy: a retrospective study involving 49 children

Maria-João Ribeiro, Nathalie Boddaert, Christine Bellanné-Chantelot, Sandrine Bourgeois, Vassili Valayannopoulos, Thierry Delzescaux, Francis Jaubert, Claire Nihoul-Fékété, Francis Brunelle, Pascale D

Journal:

European Journal of Nuclear Medicine and Molecular Imaging

Year:

2007

Language:

english

File:

PDF, 277 KB

english, 2007

33

Erratum to Letter to the Editor “Comparison of performances of various HbA1c methods in Haemoglobin Camperdown variant detection” [Clinica Chimica Acta 403 (2009) 262–263]

Bénédicte Gaborit, Alain Nicolay, René Valéro, Audrey Bégu, Catherine Badens, Christine Bellanné-Chantelot, Henri Portugal, Bernard Vialettes

Journal:

Clinica Chimica Acta

Year:

2009

File:

PDF, 71 KB

2009

34

Vitamin D receptor gene polymorphisms are associated with obesity in type 2 diabetic subjects with early age of onset

Ye, W., Reis, A., Dubois-Laforgue, D, Bellanne-Chantelot, C, Timsit, J, Velho, G

Journal:

European Journal of Endocrinology

Year:

2001

Language:

english

File:

PDF, 203 KB

english, 2001

35

Congenital Hyperinsulinism: Pancreatic [ 18 F]Fluoro- l -Dihydroxyphenylalanine (DOPA) Positron Emission Tomography and Immunohistochemistry Study of DOPA Decarboxylase and Insulin Secretion

de Lonlay, Pascale, Simon-Carre, Aurore, Ribeiro, Maria-João, Boddaert, Nathalie, Giurgea, Irina, Laborde, Kathleen, Bellanné-Chantelot, Christine, Verkarre, Virginie, Polak, Michel, Rahier, Jacques,

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2006

Language:

english

File:

PDF, 1.40 MB

english, 2006

36

HNF1B-related diabetes triggered by renal transplantation

Zuber, Julien, Bellanné-Chantelot, Christine, Carette, Claire, Canaud, Guillaume, Gobrecht, Sandrine, Gaha, Khaled, Mallet, Vincent, Martinez, Frank, Thervet, Eric, Timsit, José, Legendre, Christophe,

Journal:

Nature Reviews Nephrology (formerly Nature Clinical Practice Nephrology)

Year:

2009

Language:

english

File:

PDF, 187 KB

english, 2009

37

Cystic kidney disease, chromophobe renal cell carcinoma and TCF2 (HNF1β) mutations

Lebrun, Gaëtan, Vasiliu, Viorel, Bellanné-Chantelot, Christine, Bensman, Albert, Ulinski, Tim, Chrétien, Yves, Grünfeld, Jean-Pierre

Journal:

Nature Clinical Practice Nephrology

Year:

2005

Language:

english

File:

PDF, 335 KB

english, 2005

38

Clinical Spectrum Associated with Hepatocyte Nuclear Factor-1β Mutations

Bellanné-Chantelot, Christine

Journal:

Annals of Internal Medicine

Year:

2004

Language:

english

File:

PDF, 487 KB

english, 2004

39

Identification of MPL R102P Mutation in Hereditary Thrombocytosis

Bellanné-Chantelot, Christine, Mosca, Matthieu, Marty, Caroline, Favier, Rémi, Vainchenker, William, Plo, Isabelle

Journal:

Frontiers in Endocrinology

Year:

2017

Language:

english

File:

PDF, 363 KB

english, 2017

40

Dominantly inherited hyperinsulinaemic hypoglycaemia

P. Lonlay, I. Giurgea, C. Sempoux, G. Touati, F. Jaubert, J. Rahier, M. Ribeiro, F. Brunelle, C. Nihoul-Fékété, J.-J. Robert, J.-M. Saudubray, C. Stanley, C. Bellanné-Chantelot

Journal:

Journal of Inherited Metabolic Disease

Year:

2005

Language:

english

File:

PDF, 95 KB

english, 2005

41

Childhood onset diabetes posttransplant in a girl with TCF2 mutation

Elena Tudorache, Anne-Laure Sellier-Leclerc, Marion Lenoir, Nadia Toubiana, Albert Bensman, Christine Bellanne-Chantelot, Tim Ulinski

Journal:

Pediatric Diabetes

Year:

2012

Language:

english

File:

PDF, 864 KB

english, 2012

42

Génétique du MODY : pour qui, comment et pourquoi ?

Bellanné-Chantelot, C., Ciangura, C.

Journal:

Annales d'Endocrinologie

Year:

2012

Language:

french

File:

PDF, 38 KB

french, 2012

43

NF1 single and multi-exons copy number variations in neurofibromatosis type 1

Imbard, Apolline, Pasmant, Eric, Sabbagh, Audrey, Luscan, Armelle, Soares, Magali, Goussard, Philippe, Blanché, Hélène, Laurendeau, Ingrid, Ferkal, Salah, Vidaud, Michel, Pinson, Stéphane, Bellanne-Ch

Journal:

Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 239 KB

english, 2015

44

Diagnosis of MODY in the Offspring of Parents with Insulin-dependent and Non-insulin-dependent Diabetes Mellitus

Guazzarotti, L., Fumelli, P., Testa, I., Pecora, R., Panicari, F., Bellanné-Chantelot, C., Bartolotta, E.

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2001

Language:

english

File:

PDF, 1.72 MB

english, 2001

45

The Knudson’s Two-Hit Model and Timing of Somatic Mutation May Account for the Phenotypic Diversity of Focal Congenital Hyperinsulinism

Giurgea, Irina, Sempoux, Christine, Bellanné-Chantelot, Christine, Ribeiro, Maria, Hubert, Laurence, Boddaert, Nathalie, Saudubray, Jean-Marie, Robert, Jean-Jacques, Brunelle, Francis, Rahier, Jacques

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2006

Language:

english

File:

PDF, 495 KB

english, 2006

46

Response to Comment on Dubois-Laforgue et al. Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B ( HNF1B ) Molecular Defects. Diabetes Care 2017;40:1436–1443

Dubois-Laforgue, Danièle, Cornu, Erika, Saint-Martin, Cécile, Coste, Joël, Bellanné-Chantelot, Christine, Timsit, José

Journal:

Year:

2018

Language:

english

File:

PDF, 524 KB

english, 2018

47

Focal segmental glomerulosclerosis associated with mitochondrial cytopathy

Doleris, Luc Moulonguet, Hill, Gary S., Chedin, Pierre, Nochy, Dominique, Bellanne-Chantelot, Christine, Hanslik, Thomas, Bedrossian, Janine, Caillat-Zucman, Sophie, Cahen-Varsaux, Juliette, Bariety,

Journal:

Kidney International

Year:

2000

Language:

english

File:

PDF, 362 KB

english, 2000

48

Maturity-Onset Diabetes of the Young in Children With Incidental Hyperglycemia:: A multicenter Italian study of 172 families

Lorini, R., Klersy, C., d'Annunzio, G., Massa, O., Minuto, N., Iafusco, D., Bellanne-Chantelot, C., Frongia, A. P., Toni, S., Meschi, F., Cerutti, F., Barbetti, F.

Journal:

Year:

2009

Language:

english

File:

PDF, 68 KB

english, 2009

49

Cardiomyopathies and congenital heart diseases in Shwachman–Diamond syndrome: A national survey

Hauet, Quentin, Beaupain, Blandine, Micheau, Maguy, Blayo, Monique, Gandemer, Virginie, Gottrand, Frédéric, Blin, Nicolas, Fouyssac, Fanny, Lethor, Jean Paul, Bellanné-Chantelot, Christine, Bonnet, Da

Journal:

International Journal of Cardiology

Year:

2013

Language:

english

File:

PDF, 86 KB

english, 2013

50

Liver Adenomatosis in Patients with HNF1A ‐Mody Diabetes: Clinical, Radiological and Pathological Characteristics in a French Series

Haddouche, Aini, Bellanne‐Chantelot, Christine, Rod, Anne, Fournier, Luc, Chiche, Laurence, Gautier, Jean‐Francois, Timsit, Jose, Laboureau, Sandrine, Chaillous, Lucy, Valero, Rene, Larger, Etienne, J

Journal:

Journal of Diabetes

Year:

2019

File:

PDF, 1.53 MB

2019

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