Didier, Lacombe: search on Z-Library

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1

Non-specific gastrointestinal features: Could it be Fabry disease?

Hilz, Max J., Arbustini, Eloisa, Dagna, Lorenzo, Gasbarrini, Antonio, Goizet, Cyril, Lacombe, Didier, Liguori, Rocco, Manna, Raffaele, Politei, Juan, Spada, Marco, Burlina, Alessandro

Journal:

Digestive and Liver Disease

Year:

2018

Language:

english

File:

PDF, 2.43 MB

english, 2018

2

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Aref-Eshghi, Erfan, Kerkhof, Jennifer, Pedro, Victor P., Barat-Houari, Mouna, Ruiz-Pallares, Nathalie, Andrau, Jean-Christophe, Lacombe, Didier, Van-Gils, Julien, Fergelot, Patricia, Dubourg, ChristÃ¨

Journal:

The American Journal of Human Genetics

Year:

2020

Language:

english

File:

PDF, 2.69 MB

english, 2020

3

Controlled Cationic Polymerization of Lactide

Bourissou, Didier, Martin-Vaca, Blanca, Dumitrescu, Anca, Graullier, Magalie, Lacombe, Frédéric

Journal:

Year:

2005

Language:

english

File:

PDF, 228 KB

english, 2005

4

Muscle energetics in exercising horses

Votion, Dominique-Marie, Navet, Rachel, Lacombe, Véronique Anne, Sluse, Francis, Essén-Gustavsson, Birgitta, Hinchcliff, Kenneth William, Rivero, José-Luis L., Serteyn, Didier, Valberg, Stephanie

Journal:

Equine and Comparative Exercise Physiology

Year:

2007

Language:

english

File:

PDF, 608 KB

english, 2007

5

Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum

Caroline Rooryck, Noui Souakri, Dorothée Cailley, Julie Bouron, Cyril Goizet, Marie-Ange Delrue, Sandrine Marlin, Feclad Didier Lacombe, Benoît Arveiler

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 95 KB

english, 2010

6

Whole exome sequencing in non progressive congenital ataxia consanguineous families: 3 genes lumping with early infantile epileptic encephalopathies

Valence, Stéphanie, Garel, Catherine, Chantot Bastaraud, Sandra, Afenjar, Alexandra, Barthez, Marie Anne, Bednarek, Nathalie, Goizet, Cyril, Lacombe, Didier, Milh, Mathieu, Moutard, Marie Laure, Robin

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 173 KB

english, 2017

7

The Basques: Review of Population Genetics and Mendelian Disorders

Bauduer, Frederic, Feingold, J. (Josue), Lacombe, Didier

Journal:

Year:

2005

Language:

english

File:

PDF, 296 KB

english, 2005

8

GLUT1 expression in high-risk prostate cancer: correlation with 18F-FDG-PET/CT and clinical outcome

Meziou, Salma, Ringuette Goulet, Cassandra, Hovington, Hélène, Lefebvre, Véronique, Lavallée, Étienne, Bergeron, Michelle, Brisson, Hervé, Champagne, Audrey, Neveu, Bertrand, Lacombe, Didier, Beaurega

Journal:

Prostate Cancer and Prostatic Diseases

Year:

2020

Language:

english

File:

PDF, 1.35 MB

english, 2020

9

Mutations in SNRPB , Encoding Components of the Core Splicing Machinery, Cause Cerebro-Costo-Mandibular Syndrome

Bacrot, Séverine, Doyard, Mathilde, Huber, Céline, Alibeu, Olivier, Feldhahn, Niklas, Lehalle, Daphné, Lacombe, Didier, Marlin, Sandrine, Nitschke, Patrick, Petit, Florence, Vazquez, Marie-Paule, Munn

Journal:

Year:

2015

Language:

english

File:

PDF, 465 KB

english, 2015

10

Genetic basis of oculocutaneous albinism

Rooryck, Caroline, Morice, Fanny, Lacombe, Didier, Taieb, Alain, Arveiler, Benoît

Journal:

Expert Review of Dermatology

Year:

2009

Language:

english

File:

PDF, 516 KB

english, 2009

11

An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature

Lerat, Justine, Jonard, Laurence, Loundon, Natalie, Christin-Maitre, Sophie, Lacombe, Didier, Goizet, Cyril, Rouzier, Cécile, Van Maldergem, Lionel, Gherbi, Souad, Garabedian, Eréa-Nöel, Bonnefont, Je

Journal:

Year:

2016

Language:

english

File:

PDF, 643 KB

english, 2016

12

Townes-Brocks syndrome: Detection of a SALL1 mutation hot spot and evidence for a position effect in one patient

Sandrine Marlin, Stéphane Blanchard, Rima Slim, Didier Lacombe, Françoise Denoyelle, Jean-Louis Alessandri, Elisa Calzolari, Valérie Drouin-Garraud, F.G. Ferraz, Alain Fourmaintraux, Nicole Philip, Je

Journal:

Year:

1999

Language:

english

File:

PDF, 2.18 MB

english, 1999

13

The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia

Curie, Aurore, Nazir, Tatjana, Brun, Amandine, Paulignan, Yves, Reboul, Anne, Delange, Karine, Cheylus, Anne, Bertrand, Sophie, Rochefort, Fanny, Bussy, Gérald, Marignier, Stéphanie, Lacombe, Didier,

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 5.76 MB

english, 2014

14

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome

Darmency-Stamboul, Véronique, Burglen, Lydie, Lopez, Estelle, Mejean, Nathalie, Dean, John, Franco, Brunella, Rodriguez, Diana, Lacombe, Didier, Desguerres, Isabelle, Cormier-Daire, Valérie, Doray, Bé

Journal:

European Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 1.11 MB

english, 2013

15

Treatment needs and expectations for Fabry disease in France: development of a new Patient Needs Questionnaire

Noël, Esther, Dussol, Bertrand, Lacombe, Didier, Bedreddine, Najya, Fouilhoux, Alain, Ronco, Pierre, Genevaz, Delphine, Bekri, Soumeya, Hagège, Albert, Dupuis-Siméon, Frédérique, Derrien Ansquer, Valé

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

File:

PDF, 631 KB

2019

16

A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern

Chartier, Suzanne, Alby, Caroline, Boutaud, Lucile, Thomas, Sophie, Elkhartoufi, Nadia, Martinovic, Jelena, Kaplan, Josseline, Benachi, Alexandra, Lacombe, Didier, Sonigo, Pascale, Drunat, Séverine, V

Journal:

Birth Defects Research

Year:

2018

Language:

english

File:

PDF, 657 KB

english, 2018

17

The diagnosis of Costello syndrome: Nomenclature in Ras/MAPK pathway disorders

Bronwyn Kerr, Judith Allanson, Marie Ange Delrue, Karen W. Gripp, Didier Lacombe, Angela E. Lin, Katherine A. Rauen

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 49 KB

english, 2008

18

9th International workshop on Fragile X syndrome and X-linked mental retardation

Jean-Pierre Fryns, Martine Borghgraef, Ted W. Brown, Jamel Chelly, Gene S. Fisch, Ben Hamel, André Hanauer, Didier Lacombe, Ligun Luo, James N. MacPherson, Jean-Louis Mandel, Claude Moraine, John Mull

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 193 KB

english, 2000

19

Identification of Novel Mutations Confirms Pde4d as a Major Gene Causing Acrodysostosis

Lynch, Danielle C., Dyment, David A., Huang, Lijia, Nikkel, Sarah M., Lacombe, Didier, Campeau, Philippe M., Lee, Brendan, Bacino, Carlos A., Michaud, Jacques L., Bernier, Francois P., Consortium, FOR

Journal:

Year:

2013

Language:

english

File:

PDF, 296 KB

english, 2013

20

The Basques: Review of Population Genetics and Mendelian Disorders

FRÉDÉRIC BAUDUER, JOSUÉ FEINGOLD and DIDIER LACOMBE

Journal:

Year:

2005

Language:

english

File:

PDF, 1.42 MB

english, 2005

21

SPIE Proceedings [SPIE International Symposium on Optical Science and Technology - San Diego, CA (Sunday 30 July 2000)] Infrared Technology and Applications XXVI - French SWIR technology used for astronomy

Tiphene, Didier, Bezard, B., Bouye, Marc, Combes, Jean-Michel, Drossart, Pierre, Encrenaz, T., Epstein, Gerard, Hello, Yann, Kouach, Driss, Lacombe, Francois, Lena, Pierre J., Puget, Pascal, Rabou, Pa

Year:

2000

Language:

english

File:

PDF, 388 KB

english, 2000

22

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome

Legendre, Marine, Abadie, Véronique, Attié-Bitach, Tania, Philip, Nicole, Busa, Tiffany, Bonneau, Dominique, Colin, Estelle, Dollfus, Hélène, Lacombe, Didier, Toutain, Annick, Blesson, Sophie, Julia,

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2017

File:

PDF, 1.93 MB

2017

23

Toriello-Carey syndrome: Evidence for X-linked inheritance

Czarnecki, Paula, Lacombe, Didier, Weiss, Lester

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 387 KB

english, 1996

24

Osteopathia striata cranial sclerosis: Non-random X-inactivation suggestive of X-linked dominant inheritance

Géraldine Viot, Didier Lacombe, Albert David, Michèle Mathieu, Alain de Broca, Laurence Faivre, Nadine Gigarel, Arnold Munnich, Stanislas Lyonnet, Martine Le Merrer, Valérie Cormier-Daire

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 100 KB

english, 2002

25

Facial palsy and cranial nerve abnormalities in CHARGE association

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 216 KB

english, 1994

26

Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR

Isabelle Coupry, Laurence Monnet, Azza Abd El Moneim Attia, Laurence Taine, Didier Lacombe, Benoît Arveiler

Journal:

Year:

2004

Language:

english

File:

PDF, 156 KB

english, 2004

27

Characterization of a de novo balanced translocation t(9;18)(p23;q12.2) in a patient with oculoauriculovertebral spectrum

Caroline Rooryck, Yen VuPhi, Noui Souakri, Ingrid Burgelin, Robert Saura, Didier Lacombe, Benoît Arveiler, Laurence Taine

Journal:

European Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 428 KB

english, 2010

28

Specific Antisense Oligomer Anti Bcr-abl Junctions in Chronic Myeloid Leukemia: A Cell Cycle Analysis and CFU-GM Study

Mahon, Francois-Xavier, Belloc, Francis, Vianes, Isabelle, Barbot, Caroline, Boiron, Jean Michel, Cowen, Didier, Lacombe, Francis, Brizard, André, Bilhou-Nabera, Christelle, Bernard, Philippe, Brouste

Journal:

Leukemia and Lymphoma

Year:

1995

Language:

english

File:

PDF, 586 KB

english, 1995

29

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:

Year:

2010

File:

PDF, 197 KB

2010

30

Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia

Plaisancié, Julie, Bailleul-Forestier, Isabelle, Gaston, Véronique, Vaysse, Fréderic, Lacombe, Didier, Holder-Espinasse, Muriel, Abramowicz, Marc, Coubes, Christine, Plessis, Ghislaine, Faivre, Lauren

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 241 KB

english, 2013

31

Oral manifestations of patients with Kenny–Caffey Syndrome

Moussaid, Youssra, Griffiths, Didier, Richard, Béatrice, Dieux, Anne, Lemerrer, Martine, Léger, Juliane, Lacombe, Didier, Bailleul-Forestier, Isabelle

Journal:

European Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 504 KB

english, 2012

32

Germline mosaicism in Rubinstein–Taybi syndrome

Tajir, Mariam, Fergelot, Patricia, Lancelot, Guenaelle, Elalaoui, Siham Chafai, Arveiler, Benoit, Lacombe, Didier, Sefiani, Abdelaziz

Journal:

Year:

2013

Language:

english

File:

PDF, 311 KB

english, 2013

33

Cutaneous Manifestations in Costello and Cardiofaciocutaneous Syndrome: Report of 18 Cases and Literature Review

Morice-Picard, Fanny, Ezzedine, Khaled, Delrue, Marie-Ange, Arveiler, Benoit, Fergelot, Patricia, Taïeb, Alain, Lacombe, Didier, Boralevi, Franck

Journal:

Pediatric Dermatology

Year:

2013

Language:

english

File:

PDF, 207 KB

english, 2013

34

Hallerman–Streiff-like syndrome presenting with laterality and cardiac defects

Morice-Picard, Fanny, Marlin, Sandrine, Rooryck, Caroline, Fayon, Mickael, Thambo, Jeao-Benoît, Demarquez, Jean-Louis, Fauroux, Brigitte, Denoyelle, Francoise, Lacombe, Didier

Journal:

Clinical Dysmorphology

Year:

2009

Language:

english

File:

PDF, 120 KB

english, 2009

35

SPIE Proceedings [SPIE SPIE Astronomical Telescopes + Instrumentation - San Diego, California, USA (Sunday 27 June 2010)] High Energy, Optical, and Infrared Detectors for Astronomy IV - The silicon drift detector for the IXO high-time resolution spectrometer

Lechner, Peter, Holland, Andrew D., Dorn, David A., Amoros, Carine, Barret, Didier, Bodin, Pierre, Boutelier, Martin, Eckhardt, Rouven, Fiorini, Carlo, Kendziorra, Eckhard, Lacombe, Karine, Niculae, A

Year:

2010

Language:

english

File:

PDF, 5.79 MB

english, 2010

36

Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients

Germain, Dominique P., Fouilhoux, Alain, Decramer, Stéphane, Tardieu, Marine, Pillet, Pascal, Fila, Marc, Rivera, Serge, Deschênes, Georges, Lacombe, Didier

Journal:

Clinical Genetics

Year:

2019

Language:

english

File:

PDF, 1.52 MB

english, 2019

37

TARGETING HUMAN LUNG ADENOCARCINOMA WITH A SUPPRESSOR OF MITOCHONDRIAL SUPEROXIDE PRODUCTION

AMOEDO, Nivea Dias, DARD, Laetitia, SARLAK, Saharnaz, MAHFOUF, Walid, Blanchard, Wendy, ROUSSEAU, BenoÃ®t, IZOTTE, Julien, CLAVEROL, Stephane, Lacombe, Didier, REZVANI, Hamid Reza, PIERRI, Ciro Leonar

Journal:

Antioxidants & Redox Signaling

Year:

2020

File:

PDF, 2.30 MB

2020

38

A novel mutation in the fatty acid transport protein 4 gene in a patient initially described as affected by self-healing congenital verruciform hyperkeratosis

Fanny Morice-Picard, Christine Léauté-Labrèze, Aude Décor, Franck Boralevi, Didier Lacombe, Alain Taieb, Judith Fischer

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 60 KB

english, 2010

39

COL4A1 mutation in Axenfeld–Rieger anomaly with leukoencephalopathy and stroke

Igor Sibon, Isabelle Coupry, Patrice Menegon, Jean-Pierre Bouchet, Philippe Gorry, Ingrid Burgelin, Patrick Calvas, Isabelle Orignac, Vincent Dousset, Didier Lacombe, Jean-Marc Orgogozo, Benoît Arveil

Journal:

Annals of Neurology

Year:

2007

Language:

english

File:

PDF, 664 KB

english, 2007

40

Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip

Lévêque, Marianne, Marlin, Sandrine, Jonard, Laurence, Procaccio, Vincent, Reynier, Pascal, Amati-Bonneau, Patrizia, Baulande, Sylvain, Pierron, Denis, Lacombe, Didier, Duriez, Françoise

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 153 KB

english, 2007

41

A patient with hydranencephaly and PEHO-like dysmorphic features

Cyril Goizet, Caroline Espil-Taris, Marie Husson, Jean-François Chateil, Jean-Michel Pedespan, Didier Lacombe

Journal:

Annales de Génétique

Year:

2003

Language:

english

File:

PDF, 421 KB

english, 2003

42

SPIE Proceedings [SPIE 1994 Symposium on Astronomical Telescopes & Instrumentation for the 21st Century - Kailua, Kona, HI (Sunday 13 March 1994)] Adaptive Optics in Astronomy - ADONIS: a user-friendly adaptive optics system for the ESO 3.6-m telescope

Beuzit, Jean-Luc, Hubin, Norbert N., Gendron, Eric, Demailly, Laurent, Gigan, Pierre, Lacombe, Francois, Chazallet, Frederic, Rabaud, Didier, Rousset, Gerard, Ealey, Mark A., Merkle, Fritz

Year:

1994

Language:

english

File:

PDF, 256 KB

english, 1994

43

Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant

Angelini, Chloé, Van Gils, Julien, Bigourdan, Antoine, Jouk, Pierre-Simon, Lacombe, Didier, Menegon, Patrice, Moutton, Sébastien, Riant, Florence, Sole, Guilhem, Tournier-Lasserve, Elisabeth, Trimouil

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 433 KB

english, 2018

44

Transcription factors in dysmorphology

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 1.07 MB

english, 1999

45

LRP5 mutations in osteoporosis-pseudoglioma syndrome and high-bone-mass disorders

Régis Levasseur, Didier Lacombe, Marie Christine de Vernejoul

Journal:

Joint Bone Spine

Year:

2005

Language:

english

File:

PDF, 541 KB

english, 2005

46

Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type I

Marjory Rué, Hermann-Josef Lüdecke, Igor Sibon, Christophe Richez, Laurence Taine, Alexandra Foubert-Samier, Benoit Arveiler, Thierry Schaeverbeke, Didier Lacombe, François Tison, Cyril Goizet

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 526 KB

english, 2011

47

The Gene for Bazex-Dupre-Christol Syndrome Maps to Chromosome Xq.

Vabres, Pierre, Lacombe, Didier, Rabinowitz, Linda G., Aubert, Gerard, Anderson, Carol E., Taieb, Alain, Bonafe, Jean-Louis, Hors-Cayla, Marie-Claude

Journal:

The Journal of Investigative Dermatology

Year:

1995

File:

PDF, 1.70 MB

1995

48

Typical facial gestalt in X-linked Kabuki syndrome

Margot, Henri, Geneviève, David, Gatinois, Vincent, Arveiler, Benoit, Moutton, Sébastien, Touitou, Isabelle, Lacombe, Didier

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 236 KB

english, 2016

49

Further delineation of the phenotype caused by biallelic variants in the WDR4 gene

Trimouille, Aurélien, Lasseaux, Eulalie, Barat, Pascal, Deiller, Caroline, Drunat, Séverine, Rooryck, Caroline, Arveiler, Benoît, Lacombe, Didier

Journal:

Clinical Genetics

Year:

2017

Language:

english

File:

PDF, 927 KB

english, 2017

50

The phenotype of Floating–Harbor syndrome in 10 patients

Susan M. White, Angela Morgan, Annette Da Costa, Didier Lacombe, Samantha J.L. Knight, Richard Houlston, Margo L. Whiteford, Ruth A. Newbury-Ecob, Jane A. Hurst

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 219 KB

english, 2010

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