Ottolenghi, Chris: search on Z-Library

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1

Prise en charge médicale et diététique des maladies héréditaires du métabolisme || Classification des maladies héréditaires du métabolisme

de Lonlay, Pascale, Dubois, Sandrine, Valayannopoulos, Vassili, Depondt, Eliane, Ottolenghi, Chris, Rabier, Daniel

Year:

2013

Language:

french

File:

PDF, 316 KB

french, 2013

2

Prise en charge médicale et diététique des maladies héréditaires du métabolisme || Interprétation du bilan biologique

de Lonlay, Pascale, Dubois, Sandrine, Valayannopoulos, Vassili, Depondt, Eliane, Ottolenghi, Chris, Rabier, Daniel

Year:

2013

Language:

french

File:

PDF, 362 KB

french, 2013

3

Population pharmacokinetics and pharmacodynamics of cysteamine in nephropathic cystinosis patients

Naïm Bouazza, Jean-Marc Tréluyer, Chris Ottolenghi, Saik Urien, Georges Deschenes, Daniel Ricquier, Patrick Niaudet, Bernadette Chadefaux-Vekemans

Journal:

Orphanet Journal of Rare Diseases

Year:

2011

Language:

english

File:

PDF, 342 KB

english, 2011

4

The Human Doublesex-Related Gene, DMRT2, Is Homologous to a Gene Involved in Somitogenesis and Encodes a Potential Bicistronic Transcript

Chris Ottolenghi, , Reiner Veitia, Marcello Barbieri, Marc Fellous, Ken McElreavey

Journal:

Year:

2000

Language:

english

File:

PDF, 234 KB

english, 2000

5

Prise en charge médicale et diététique des maladies héréditaires du métabolisme || Anomalies du métabolisme des purines et pyrimidines

de Lonlay, Pascale, Dubois, Sandrine, Valayannopoulos, Vassili, Depondt, Eliane, Ottolenghi, Chris, Rabier, Daniel

Year:

2013

Language:

french

File:

PDF, 356 KB

french, 2013

6

Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias

Nizon, Mathilde, Ottolenghi, Chris, Valayannopoulos, Vassili, Arnoux, Jean-Baptiste, Barbier, Valérie, Habarou, Florence, Desguerre, Isabelle, Boddaert, Nathalie, Bonnefont, Jean-Paul, Acquaviva, Céci

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 463 KB

english, 2013

7

Clinical and biochemical heterogeneity associated with fumarase deficiency

Chris Ottolenghi, Laurence Hubert, Yannick Allanore, Anais Brassier, Cécilia Altuzarra, Caroline Mellot-Draznieks, Soumeya Bekri, Alice Goldenberg, Severine Veyrieres, Nathalie Boddaert, Valérie Barbi

Journal:

Year:

2011

Language:

english

File:

PDF, 296 KB

english, 2011

8

Prise en charge médicale et diététique des maladies héréditaires du métabolisme || Homocystinurie, métabolisme des folates et de la B12

de Lonlay, Pascale, Dubois, Sandrine, Valayannopoulos, Vassili, Depondt, Eliane, Ottolenghi, Chris, Rabier, Daniel

Year:

2013

Language:

french

File:

PDF, 413 KB

french, 2013

9

Constitutively active Foxo3 in oocytes preserves ovarian reserve in mice

Pelosi, Emanuele, Omari, Shakib, Michel, Marc, Ding, Jun, Amano, Tomokazu, Forabosco, Antonino, Schlessinger, David, Ottolenghi, Chris

Journal:

Nature Communications

Year:

2013

Language:

english

File:

PDF, 1.19 MB

english, 2013

10

Comorbidity and metabolic context are crucial factors determining neurological sequelae of hypoglycaemia

SVETLANA GATAULLINA, GEORGES DELLATOLAS, HERVÉ PERDRY, JEAN-JACQUES ROBERT, VASSILI VALAYANNOPOULOS, GUY TOUATI, CHRIS OTTOLENGHI, OLIVIER DULAC, PASCALE DE LONLAY

Journal:

Developmental Medicine & Child Neurology

Year:

2012

Language:

english

File:

PDF, 152 KB

english, 2012

11

Prise en charge médicale et diététique des maladies héréditaires du métabolisme || Défaut de glycosylation des glycoprotéines (CDG)

de Lonlay, Pascale, Dubois, Sandrine, Valayannopoulos, Vassili, Depondt, Eliane, Ottolenghi, Chris, Rabier, Daniel

Year:

2013

Language:

french

File:

PDF, 322 KB

french, 2013

12

Phosphoethanolamine normal range in pediatric urines for hypophosphatasia screening

Imbard, Apolline, Alberti, Corinne, Armoogum-Boizeau, Priscilla, Ottolenghi, Chris, Josserand, Emilie, Rigal, Odile, Benoist, Jean-François

Journal:

Clinical Chemistry and Laboratory Medicine

Year:

2012

Language:

english

File:

PDF, 249 KB

english, 2012

13

Reply: ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

Coutelier, Marie, Mochel, Fanny, Saudubray, Jean-Marie, Ottolenghi, Chris, Stevanin, Giovanni

Journal:

Year:

2015

Language:

english

File:

PDF, 173 KB

english, 2015

14

Novel Paralogy Relations Among Human Chromosomes Support a Link between the Phylogeny of doublesex-Related Genes and the Evolution of Sex Determination

Chris Ottolenghi, Marc Fellous, Marcello Barbieri, Ken McElreavey

Journal:

Year:

2002

Language:

english

File:

PDF, 350 KB

english, 2002

15

The Region on 9p Associated with 46,XY Sex Reversal Contains Several Transcripts Expressed in the Urogenital System and a Novel Doublesex-Related Domain

Chris Ottolenghi, Reiner Veitia, Lluis Quintana-Murci, Delphine Torchard, Luca Scapoli, Nicole Souleyreau-Therville, Jacques Beckmann, Marc Fellous, Ken McElreavey

Journal:

Year:

2000

Language:

english

File:

PDF, 269 KB

english, 2000

16

Foxl2functions in sex determination and histogenesis throughout mouse ovary development

Elias José Garcia-Ortiz, Emanuele Pelosi, Shakib Omari, Timur Nedorezov, Yulan Piao, Jesse Karmazin, Manuela Uda, Antonio Cao, Steve W Cole, Antonino Forabosco, David Schlessinger, Chris Ottolenghi

Journal:

BMC Developmental Biology

Year:

2009

Language:

english

File:

PDF, 1.00 MB

english, 2009

17

Highly specific determination of IDH status using edited in vivo magnetic resonance spectroscopy

Branzoli, Francesca, Di Stefano, Anna Luisa, Capelle, Laurent, Ottolenghi, Chris, Valabrègue, Romain, Deelchand, Dinesh K, Bielle, Franck, Villa, Chiara, Baussart, Bertrand, Lehéricy, Stéphane, Sanson

Journal:

Year:

2017

Language:

english

File:

PDF, 888 KB

english, 2017

18

Lung involvement in children with lysinuric protein intolerance

Valimahamed-Mitha, Sarah, Berteloot, Laureline, Ducoin, Héloise, Ottolenghi, Chris, de Lonlay, Pascale, de Blic, Jacques

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 360 KB

english, 2015

19

Long-term follow-up in an open-label trial of triheptanoin in GLUT1 deficiency syndrome: a sustained dramatic effect

Hainque, Elodie, Gras, Domitille, Meneret, Aurélie, Atencio, Mariana, Luton, Marie-Pierre, Barbier, Magali, Doulazmi, Mohamed, Habarou, Florence, Ottolenghi, Chris, Roze, Emmanuel, Mochel, Fanny

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2019

Language:

english

File:

PDF, 225 KB

english, 2019

20

Mouse ovary developmental RNA and protein markers from gene expression profiling

Luisa Herrera, Chris Ottolenghi, J. Elias Garcia-Ortiz, Massimo Pellegrini, Francesca Manini, Minoru S.H. Ko, Ramaiah Nagaraja, Antonino Forabosco, David Schlessinger

Journal:

Developmental Biology

Year:

2005

Language:

english

File:

PDF, 1.39 MB

english, 2005

21

Multiple sources of metabolic disturbance inETHE1-related ethylmalonic encephalopathy

Barth, Magalie, Ottolenghi, Chris, Hubert, Laurence, ChrÃ©tien, Dominique, Serre, ValÃ©rie, Gobin, StÃ©phanie, Romano, StÃ©phane, Vassault, Anne, Sefiani, Aziz, Ricquier, Daniel, Boddaert, Nathalie, B

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 401 KB

english, 2010

22

Combination of lipid metabolism alterations and their sensitivity to inflammatory cytokines in human lipin-1-deficient myoblasts

Michot, Caroline, Mamoune, Asmaa, Vamecq, Joseph, Viou, Mai Thao, Hsieh, Lu-Sheng, Testet, Eric, Lainé, Jeanne, Hubert, Laurence, Dessein, Anne-Frédérique, Fontaine, Monique, Ottolenghi, Chris, Fouill

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2013

Language:

english

File:

PDF, 1.47 MB

english, 2013

23

Epileptic Phenotype of Two Siblings with Asparagine Synthesis Deficiency Mimics Neonatal Pyridoxine-Dependent Epilepsy

Gataullina, Svetlana, Lauer-Zillhardt, Julia, Kaminska, Anna, Galmiche-Rolland, Louise, Bahi-Buisson, Nadia, Pontoizeau, Clément, Ottolenghi, Chris, Dulac, Olivier, Fallet-Bianco, Catherine

Journal:

Neuropediatrics

Year:

2016

Language:

english

File:

PDF, 376 KB

english, 2016

24

Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency

Nizon, Mathilde, Boutron, Audrey, Boddaert, Nathalie, Slama, Abdelhamid, Delpech, Hélène, Sardet, Claude, Brassier, Anaïs, Habarou, Florence, Delahodde, Agnès, Correia, Isabelle, Ottolenghi, Chris, de

Journal:

Year:

2014

Language:

english

File:

PDF, 488 KB

english, 2014

25

The genomic structure of C14orf1 is conserved across eukarya

Chris Ottolenghi, Iraj Daizadeh, Albert Ju, Sophia Kossida, Georges Renault, Michel Jacquet, Arlette Fellous, Walter Gilbert, Reiner Veitia

Journal:

Mammalian Genome

Year:

2000

Language:

english

File:

PDF, 479 KB

english, 2000

26

Dihydrolipoamide dehydrogenase deficiency: A still overlooked cause of recurrent acute liver failure and Reye-like syndrome

Brassier, Anaïs, Ottolenghi, Chris, Boutron, Audrey, Bertrand, Anne-Marie, Valmary-Degano, Séverine, Cervoni, Jean-Paul, Chrétien, Dominique, Arnoux, Jean-Baptiste, Hubert, Laurence, Rabier, Daniel, L

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 501 KB

english, 2013

27

Transition from ketogenic diet to triheptanoin in patients with GLUT1 deficiency syndrome

Hainque, Elodie, Meneret, AurÃ©lie, Gras, Domitille, Atencio, Mariana, Luton, Marie-Pierre, Barbier, Magali, De Saint Martin, Anne, Billette de Villemeur, Thierry, Ottolenghi, Chris, Roze, Emmanuel, M

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2019

File:

PDF, 200 KB

2019

28

Acute rhabdomyolysis and inflammation

Hamel, Yamina, Mamoune, Asmaa, Mauvais, François-Xavier, Habarou, Florence, Lallement, Laetitia, Romero, Norma Beatriz, Ottolenghi, Chris, de Lonlay, Pascale

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 638 KB

english, 2015

29

Prise en charge médicale et diététique des maladies héréditaires du métabolisme || Prise en charge des détresses métaboliques aiguës

de Lonlay, Pascale, Dubois, Sandrine, Valayannopoulos, Vassili, Depondt, Eliane, Ottolenghi, Chris, Rabier, Daniel

Year:

2013

Language:

french

File:

PDF, 389 KB

french, 2013

30

Cystathionine as a marker for 1p/19q codeleted gliomas by in vivo magnetic resonance spectroscopy

Branzoli, Francesca, Pontoizeau, Clément, Tchara, Lucien, Di Stefano, Anna Luisa, Kamoun, Aurélie, Deelchand, Dinesh K, Valabrègue, Romain, Lehéricy, Stéphane, Sanson, Marc, Ottolenghi, Chris, Marjańs

Journal:

Year:

2019

File:

PDF, 938 KB

2019

31

Genetic divergence between mouse and humans: A useful direction for gene pathway analysis

Ottolenghi, Chris, Vekemans, Michel

Journal:

Year:

1998

Language:

english

File:

PDF, 63 KB

english, 1998

32

Placing Parallel Stranded DNA in an Evolutionary Context

REINER VEITIA, CHRIS OTTOLENGHI

Journal:

Journal of Theoretical Biology

Year:

2000

Language:

english

File:

PDF, 100 KB

english, 2000

33

Absence of Mutations Involving the Lim Homeobox Domain Gene LHX9 in 46,XY Gonadal Agenesis and Dysgenesis

Ottolenghi, Chris, Moreira-Filho, Carlos, Mendonça, Berenice B., Barbieri, Marcello, Fellous, Marc, Berkovitz, Gary D., McElreavey, Ken

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2001

Language:

english

File:

PDF, 219 KB

english, 2001

34

Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation

Drecourt, Anthony, Babdor, Joël, Dussiot, Michael, Petit, Floriane, Goudin, Nicolas, Garfa-Traoré, Meriem, Habarou, Florence, Bole-Feysot, Christine, Nitschké, Patrick, Ottolenghi, Chris, Metodiev, Me

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 2.29 MB

english, 2018

35

Determination and stability of sex

Chris Ottolenghi, Manuela Uda, Laura Crisponi, Shakib Omari, Antonio Cao, Antonino Forabosco, David Schlessinger

Journal:

Year:

2007

Language:

english

File:

PDF, 240 KB

english, 2007

36

Aging of Oocyte, Ovary, and Human Reproduction

CHRIS OTTOLENGHI, MANUELA UDA, TOSHIO HAMATANI, LAURA CRISPONI, JOSE-ELIAS GARCIA, MINORU KO, GIUSEPPE PILIA, CHIARELLA SFORZA, DAVID SCHLESSINGER, ANTONINO FORABOSCO

Journal:

Annals of the New York Academy of Sciences

Year:

2004

Language:

english

File:

PDF, 215 KB

english, 2004

37

FISH mapping of the sex-reversal region on human chromosome 9p in two XY females and in primates

Haaf, Thomas, Shan, Zhihong, Zabel, Bernhard, Trautmann, Udo, Hillig, Ulrike, Ottolenghi, Chris, Wang, Yayu

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 345 KB

english, 2000

38

Prise en charge médicale et diététique des maladies héréditaires du métabolisme || Maladies peroxysomales

de Lonlay, Pascale, Dubois, Sandrine, Valayannopoulos, Vassili, Depondt, Eliane, Ottolenghi, Chris, Rabier, Daniel

Year:

2013

Language:

french

File:

PDF, 416 KB

french, 2013

39

Prise en charge médicale et diététique des maladies héréditaires du métabolisme ||

de Lonlay, Pascale, Dubois, Sandrine, Valayannopoulos, Vassili, Depondt, Eliane, Ottolenghi, Chris, Rabier, Daniel

Year:

2013

Language:

french

File:

PDF, 6.78 MB

french, 2013

40

Prise en charge médicale et diététique des maladies héréditaires du métabolisme || Maladies lysosomales

de Lonlay, Pascale, Dubois, Sandrine, Valayannopoulos, Vassili, Depondt, Eliane, Ottolenghi, Chris, Rabier, Daniel

Year:

2013

Language:

french

File:

PDF, 347 KB

french, 2013

41

Controversies and research agenda in nephropathic cystinosis: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference

Langman, Craig B., Barshop, Bruce A., Deschênes, Georges, Emma, Francesco, Goodyer, Paul, Lipkin, Graham, Midgley, Julian P., Ottolenghi, Chris, Servais, Aude, Soliman, Neveen A., Thoene, Jess G., Lev

Journal:

Kidney International

Year:

2016

Language:

english

File:

PDF, 603 KB

english, 2016

42

Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults

Brodin-Sartorius, Albane, Tête, Marie-Josèphe, Niaudet, Patrick, Antignac, Corinne, Guest, Geneviève, Ottolenghi, Chris, Charbit, Marina, Moyse, Dominique, Legendre, Christophe, Lesavre, Philippe

Journal:

Kidney International

Year:

2011

Language:

english

File:

PDF, 276 KB

english, 2011

43

Prise en charge médicale et diététique des maladies héréditaires du métabolisme || Atteintes hématologiques

de Lonlay, Pascale, Dubois, Sandrine, Valayannopoulos, Vassili, Depondt, Eliane, Ottolenghi, Chris, Rabier, Daniel

Year:

2013

Language:

french

File:

PDF, 276 KB

french, 2013

44

Successful Treatment of Severe Cardiomyopathy in Glycogen Storage Disease Type III With D,L-3-Hydroxybutyrate, Ketogenic and High-Protein Diet

Valayannopoulos, Vassili, Bajolle, Fanny, Arnoux, Jean-Baptiste, Dubois, Sandrine, Sannier, Nathalie, Baussan, Christiane, Petit, François, Labrune, Philippe, Rabier, Daniel, Ottolenghi, Chris, Vassau

Journal:

Pediatric Research

Year:

2011

Language:

english

File:

PDF, 351 KB

english, 2011

45

From Nf1 to Sdhb knockout: Successes and failures in the quest for animal models of pheochromocytoma

Lepoutre-Lussey, Charlotte, Thibault, Constance, Buffet, Alexandre, Morin, Aurélie, Badoual, Cécile, Bénit, Paule, Rustin, Pierre, Ottolenghi, Chris, Janin, Maxime, Castro-Vega, Luis-Jaime, Trapman, J

Journal:

Molecular and Cellular Endocrinology

Year:

2015

Language:

english

File:

PDF, 1.29 MB

english, 2015

46

Loss of succinate dehydrogenase activity results in dependency on pyruvate carboxylation for cellular anabolism

Lussey-Lepoutre, Charlotte, Hollinshead, Kate E. R., Ludwig, Christian, Menara, Mélanie, Morin, Aurélie, Castro-Vega, Luis-Jaime, Parker, Seth J., Janin, Maxime, Martinelli, Cosimo, Ottolenghi, Chris,

Journal:

Nature Communications

Year:

2015

Language:

english

File:

PDF, 1.02 MB

english, 2015

47

Transcriptional Control of Ovarian Development in Somatic Cells

Ottolenghi, Chris, Colombino, Maria, Crisponi, Laura, Cao, Antonio, Forabosco, Antonino, Schlessinger, David, Uda, Manuela

Journal:

Seminars in Reproductive Medicine

Year:

2007

Language:

english

File:

PDF, 196 KB

english, 2007

48

Testis determination in mammals: more questions than answers

Reiner A. Veitia, Laura Salas-Cortés, Chris Ottolenghi, Eric Pailhoux, Corinne Cotinot, Marc Fellous

Journal:

Molecular and Cellular Endocrinology

Year:

2001

Language:

english

File:

PDF, 307 KB

english, 2001

49

C IC inactivating mutations identify aggressive subset of 1p19q codeleted gliomas

Gleize, Vincent, Alentorn, Agusti, Connen de Kérillis, Léa, Labussière, Marianne, Nadaradjane, Aravidan A, Mundwiller, Emeline, Ottolenghi, Chris, Mangesius, Stephanie, Rahimian, Amithys, Ducray, Fran

Journal:

Annals of Neurology

Year:

2015

Language:

english

File:

PDF, 1.08 MB

english, 2015

50

No effect of triheptanoin on exercise performance in McArdle disease

Madsen, Karen L., Laforêt, Pascal, Buch, Astrid E., Stemmerik, Mads G., Ottolenghi, Chris, Hatem, Stéphane N., Raaschou‐Pedersen, Daniel T., Poulsen, Nanna S., Atencio, Maria, Luton, Marie‐Pierre, Cec

Journal:

Annals of Clinical and Translational Neurology

Year:

2019

Language:

english

File:

PDF, 1011 KB

english, 2019

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