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1

Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France

Gaëtan Lesca, Henri Plauchu, Florence Coulet, Sylvain Lefebvre, Ghislaine Plessis, Sylvie Odent, Sophie Rivière, Bruno Leheup, Cyril Goizet, Marie-France Carette, Jean-François Cordier, Stéphane Pinso

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 391 KB

english, 2004

2

The practice of physical and sporting activity in teenagers with idiopathic scoliosis is related to the curve type

C. Meyer, T. Haumont, G. C. Gauchard, B. Leheup, P. Lascombes, Ph. P. Perrin

Journal:

Scandinavian Journal of Medicine & Science in Sports

Année:

2008

Langue:

english

Fichier:

PDF, 111 KB

english, 2008

3

Prégabaline et traitement des douleurs neuropathiques : revue de la littérature

Leheup, Benoît F.

Journal:

Douleurs : Evaluation - Diagnostic - Traitement

Année:

2006

Langue:

french

Fichier:

PDF, 319 KB

french, 2006

4

Débat sur l’euthanasie : regard philosophique sur le respect de l’autonomie

Leheup, Benoît F., Ducrocq, Xavier

Journal:

Médecine Palliative : Soins de Support - Accompagnement - Éthique

Année:

2008

Langue:

french

Fichier:

PDF, 165 KB

french, 2008

5

Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway

Renard, Emeline, Chéry, Céline, Oussalah, Abderrahim, Josse, Thomas, Perrin, Pascal, Tramoy, Denise, Voirin, Jimmy, Klein, Olivier, Leheup, Bruno, Feillet, François, Guéant-Rodriguez, Rosa-Maria, Guéa

Journal:

Année:

2019

Langue:

english

Fichier:

PDF, 1.42 MB

english, 2019

6

Fretting wear of sintered iron under low normal pressure

E.R. Leheup, Deen Zhang, J.R. Moon

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 2.32 MB

english, 1998

7

Immunolocalization of type IV collagen and laminin during rat gonadal morphogenesis and postnatal development of the testis and epididymis

J. L. Gelly, J. P. Richoux, B. P. Leheup, G. Grignon

Journal:

Histochemistry and Cell Biology

Année:

1989

Langue:

english

Fichier:

PDF, 4.41 MB

english, 1989

8

Why do idiopathic scoliosis patients participate more in gymnastics?

C. Meyer, E. Cammarata, T. Haumont, D. Deviterne, G. C. Gauchard, B. Leheup, P. Lascombes, Ph. P. Perrin

Journal:

Scandinavian Journal of Medicine & Science in Sports

Année:

2006

Langue:

english

Fichier:

PDF, 115 KB

english, 2006

9

Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort

Hichri, Haifa, Stoetzel, Corinne, Laurier, Virginie, Caron, Solenne, Sigaudy, Sabine, Sarda, Pierre, Hamel, Christian, Martin-Coignard, Dominique, Gilles, Morin, Leheup, Bruno

Journal:

European Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 297 KB

english, 2005

10

Radiological and clinical analysis of Madelung's deformity in children

Huguet, S., Leheup, B., Aslan, M., Muller, F., Dautel, G., Journeau, P.

Journal:

Orthopaedics & Traumatology: Surgery & Research

Année:

2014

Langue:

english

Fichier:

PDF, 773 KB

english, 2014

11

Subcutaneous administration of paracetamol—Good local tolerability in palliative care patients: An observational study

Leheup, Benoît F, Ducousso, Stéphanie, Picard, Stéphane, Alluin, Raphaël, Goetz, Christophe

Journal:

Palliative Medicine

Année:

2018

Langue:

english

Fichier:

PDF, 73 KB

english, 2018

12

Reciprocating Wear of WC-17 Co Coatings in aqueous Environments

Coulson, W., Leheup, E. R., Marsh, M. G.

Journal:

Transactions of the Institute of Metal Finishing

Année:

1995

Langue:

english

Fichier:

PDF, 3.54 MB

english, 1995

13

Nutrigenomics and RNA methylation: role of micronutrients

Mosca, Pauline, Leheup, Bruno, Dreumont, Natacha

Journal:

Année:

2019

Langue:

english

Fichier:

PDF, 1.31 MB

english, 2019

14

Fortuitous FISH diagnosis of an interstitial microdeletion (5)(q31.1q31.2) in a girl suspected to present a cri-du-chat syndrome

A.L. Mosca, P. Callier, B. Leheup, N. Marle, M. Jalloul, L. Coffinet, F. Feillet, M. Valduga, P. Jonveaux, F. Mugneret

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 185 KB

english, 2007

15

Aberrant GRIA3 transcripts with multi-exon duplications in a family with X-linked mental retardation

C. Bonnet, B. Leheup, M. Béri, C. Philippe, M.-J. Grégoire, P. Jonveaux

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 401 KB

english, 2009

16

Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies

C. Stoetzel, S. Riehm, V. Bennouna Greene, V. Pelletier, J. Vigneron, B. Leheup, V. Marion, S. Hellé, J.M. Danse, C. Thibault, L. Moulinier, F. Veillon, H. Dollfus

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 231 KB

english, 2009

17

Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication

Juliette Piard, Christophe Philippe, Marie Marvier, Claire Beneteau, Virginie Roth, Mylène Valduga, Mylène Béri, Céline Bonnet, Marie-José Grégoire, Philippe Jonveaux, Bruno Leheup

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 300 KB

english, 2010

18

ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia

Mireille Cossée, Laurence Faivre, Christophe Philippe, Heifa Hichri, Anne de Saint-Martin, Vincent Laugel, Nadia Bahi-Buisson, Jean-François Lemaitre, Bruno Leheup, Bruno Delobel, Bénédicte Demeer, Ka

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 165 KB

english, 2011

19

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

Eric Pasmant, Audrey Sabbagh, Gill Spurlock, Ingrid Laurendeau, Elisa Grillo, Marie-José Hamel, Ludovic Martin, Sébastien Barbarot, Bruno Leheup, Diana Rodriguez, Didier Lacombe, Hélène Dollfus, Laure

Journal:

Année:

2010

Fichier:

PDF, 197 KB

2010

20

Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2)

Juliette Albuisson, Chistophe Pêcheux, Jean-Claude Carel, Didier Lacombe, Bruno Leheup, Pablo Lapuzina, Philippe Bouchard, Eric Legius, Gert Matthijs, Malgorzata Wasniewska, Marc Delpech, Jacques Youn

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 421 KB

english, 2005

21

Unlubricated reciprocating wear of stainless steel with an interfacial air flow

E.R. Leheup, R.E. Pendlebury

Journal:

Année:

1991

Langue:

english

Fichier:

PDF, 1.75 MB

english, 1991

22

The effect of density on fretting wear of sintered iron

E.R. Leheup, Zhang Deen, J.R. Moon

Journal:

Année:

1994

Langue:

english

Fichier:

PDF, 1.55 MB

english, 1994

23

Low amplitude reciprocating wear of sintered iron

E.R. Leheup, D. Zhang, J.R. Moon

Journal:

Année:

1994

Langue:

english

Fichier:

PDF, 1.30 MB

english, 1994

24

Laminin ultrastructural immunolocalization in rat testis during ontogenesis

H. Ouali, B. P. Leheup, J. L. Gelly, G. Grignon

Journal:

Histochemistry and Cell Biology

Année:

1991

Langue:

english

Fichier:

PDF, 2.51 MB

english, 1991

25

Laminin ultrastructural immunolocalization in rat testis during ontogenesis

H. Ouali, B. P. Leheup, J. L. Gelly, G. Grignon

Journal:

Histochemistry and Cell Biology

Année:

1991

Langue:

english

Fichier:

PDF, 2.51 MB

english, 1991

26

The Antley-Bixler syndrome: Report of two familial cases with severe renal and anal anomalies

B. P. LeHeup, J. P. Masutti, P. Droullé, J. Tisserand

Journal:

European Journal of Pediatrics

Année:

1995

Langue:

english

Fichier:

PDF, 640 KB

english, 1995

27

Frequency of thrombocytopenia and large platelets correlates neither with conotruncal cardiac anomalies nor immunological features in the chromosome 22q11.2 deletion syndrome

Véronique Latger-Cannard, Danièle Bensoussan, Marie-Josée Grégoire, François Marcon, Jean-Louis Cloez, Bruno Leheup, Philippe Jonveaux, Thomas Lecompte, Pierre Bordigoni

Journal:

European Journal of Pediatrics

Année:

2004

Langue:

english

Fichier:

PDF, 167 KB

english, 2004

28

Pure de-novo 5

C. Bonnet, M. J. Grégoire, K. Brochet, E. Raffo, B. Leheup, P. Jonveaux

Journal:

Journal of Human Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 286 KB

english, 2006

29

Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene

C. Bonnet, M.-J. Grégoire, M. Vibert, E. Raffo, B. Leheup, P. Jonveaux

Journal:

Journal of Human Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 478 KB

english, 2008

30

The effect of debris chemistry on the debris formation and fretting behaviour of mild steel in CO2 containing oxygen and water vapour

T.J. Benham, E.R. Leheup, J.R. Moon

Journal:

Année:

1994

Langue:

english

Fichier:

PDF, 1.01 MB

english, 1994

31

Terminal deletion of the long arm of chromosome 10

S Scigliano, MJ Grégoire, M Schmitt, PH Jonveaux, B LeHeup

Journal:

Clinical Genetics

Année:

2004

Langue:

english

Fichier:

PDF, 761 KB

english, 2004

32

Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome

C Badens, C Lacoste, N Philip, N Martini, S Courrier, F Giuliano, A Verloes, A Munnich, B Leheup, L Burglen, S Odent, H Van Esch, N Levy

Journal:

Clinical Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 249 KB

english, 2006

33

3D Reconstruction of the Mouse's Mesonephros

M.-D. Vazquez, P. Bouchet, J.-L. Mallet, B. Foliguet, H. Gérard, B. LeHeup

Journal:

Anatomia, Histologia, Embryologia

Année:

1998

Langue:

english

Fichier:

PDF, 703 KB

english, 1998

34

Effect of age at thyroid stimulating hormone normalization on postural control in children with congenital hypothyroidism

Gérome C Gauchard, Balance Control, Dominique Deviterne, Bruno Leheup, Philippe P Perrin

Journal:

Developmental Medicine & Child Neurology

Année:

2004

Langue:

english

Fichier:

PDF, 310 KB

english, 2004

35

Effects of Mono-n-butyl Phthalate on the Development of Rat Embryos: In vivo and in vitro Observations

Anne Marie Saillenfait, Isabelle Langonné, Bruno Leheup

Journal:

Basic & Clinical Pharmacology & Toxicology

Année:

2001

Langue:

english

Fichier:

PDF, 216 KB

english, 2001

36

Height growth during adolescence and final height after haematopoietic SCT for childhood acute leukaemia: the impact of a conditioning regimen with BU or TBI

Bernard, F, Bordigoni, P, Simeoni, M-C, Barlogis, V, Contet, A, Loundou, A, Thuret, I, Leheup, B, Chambost, H, Play, B

Journal:

Bone Marrow Transplantation

Année:

2008

Langue:

english

Fichier:

PDF, 152 KB

english, 2008

37

Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions

Béri-Dexheimer, Mylène, Latger-Cannard, Véronique, Philippe, Christophe, Bonnet, Céline, Chambon, Pascal, Roth, Virginie, Grégoire, Marie-José, Bordigoni, Pierre, Lecompte, Thomas, Leheup, Bruno

Journal:

European Journal of Human Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 177 KB

english, 2008

38

SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions

Beneteau, Claire, Cavé, Hélène, Moncla, Anne, Dorison, Nathalie, Munnich, Arnold, Verloes, Alain, Leheup, Bruno

Journal:

European Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 157 KB

english, 2009

39

Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families

Viollet, Louis, Zarhrate, Mohammed, Maystadt, Isabelle, Estournet-Mathiaut, Brigitte, Barois, Annie, Desguerre, Isabelle, Mayer, Michèle, Chabrol, Brigitte, LeHeup, Bruno, Cusin, Veronica

Journal:

European Journal of Human Genetics

Année:

2004

Langue:

english

Fichier:

PDF, 202 KB

english, 2004

40

Genotype–phenotype correlations to aid in the prognosis of individuals with uncommon 20q13.33 subtelomere deletions: a collaborative study on behalf of the ‘association des Cytogénéticiens de langue Française’

Béri-Deixheimer, Mylène, Gregoire, Marie-José, Toutain, Annick, Brochet, Karène, Briault, Sylvain, Schaff, Jean-Luc, Leheup, Bruno, Jonveaux, Philippe

Journal:

European Journal of Human Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 187 KB

english, 2007

41

Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome–Multiple Lentigines)

Juliette Piard, Alain Verloes, Hélène Cavé, Michel Peuchmaur, Selim Bennaceur, Bruno Leheup

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 171 KB

english, 2012

42

Anionic sites in the basement membrane of the rat epididymal epithelium during ontogenesis and after testicular and gonadal tract lesions

Jean-Luc Delongeas, Bruno P. Leheup, Jean-Louis Gelly, Georges Grignon

Journal:

Cell and Tissue Research

Année:

1987

Langue:

english

Fichier:

PDF, 1.84 MB

english, 1987

43

Plasma 6-keto prostaglandin F1α and thromboxane B2 in sick preterm neonates

Alastair A. Hutchison, Martin L. Ogletree, Charlotte J.H. Palme, Bruno P. Leheup, Jeffrey M. Barrett, Arthur C. Fleischer, Mildred T. Stahlman, Kenneth L. Brigham

Journal:

Prostaglandins, Leukotrienes and Medicine

Année:

1985

Langue:

english

Fichier:

PDF, 1.21 MB

english, 1985

44

Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB

Andreas Zankl, Emma L. Duncan, Paul J. Leo, Graeme R. Clark, Evgeny A. Glazov, Marie-Claude Addor, Troels Herlin, Chong Ae Kim, Bruno P. Leheup, Jim McGill, Steven McTaggart, Stephan Mittas, Anna L. M

Journal:

The American Journal of Human Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 903 KB

english, 2012

45

Brain MRI abnormalities in muscular dystrophy due to FKRP mutations

Susana Quijano-Roy, Itxaso Martí-Carrera, Samira Makri, Michèle Mayer, Svetlana Maugenre, Pascale Richard, Carole Berard, Louis Viollet, Bruno Leheup, Pascale Guicheney, Jean-Marc Pinard, Brigitte Est

Journal:

Brain and Development

Année:

2006

Langue:

english

Fichier:

PDF, 574 KB

english, 2006

46

165 A new case with generalized epilepsy and inv dup(15) syndrome

C. Zix, J.-L. Schaff, B. Leheup, E. Flor, F. Girard

Journal:

European Journal of Paediatric Neurology

Année:

1999

Langue:

english

Fichier:

PDF, 272 KB

english, 1999

47

Three-year data from a comparative study with recombinant human growth hormone in the treatment of short stature in young children with intrauterine growth retardation

A Fjellestad-Paulsen, P Czernichow, R Brauner, M Bost, M Colle, JY Lebouc, M Lecornu, B Leheup, JM Limal, MC Raux, JE Toublanc, R Rappaport

Journal:

Acta Paediatrica

Année:

1998

Langue:

english

Fichier:

PDF, 90 KB

english, 1998

48

La microdélétion du chromosome 22q11 chez l'enfant: à propos d'une série de 49 patients

A Levy-Mozziconacci, D Lacombe, B Leheup, F Wernert, F Rouault, N Philip

Journal:

Archives de Pédiatrie

Année:

1996

Langue:

english

Fichier:

PDF, 552 KB

english, 1996

49

Syndrome de délétion 22q11 et maladie de Basedow. À propos de trois observations pédiatriques

J. Gosselin, B. Lebon-Labich, H. Lucron, F. Marçon, B. Leheup

Journal:

Archives de Pédiatrie

Année:

2004

Langue:

french

Fichier:

PDF, 90 KB

french, 2004

50

Hypercalcémie révélant une hypervitaminose A iatrogène chez un enfant atteint de troubles autistiques

A. Kimmoun, B. Leheup, F. Feillet, F. Dubois, A. Morali

Journal:

Archives de Pédiatrie

Année:

2008

Fichier:

PDF, 346 KB

2008