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Results: 1 to 20 of 421

1.

European perspective for effective cancer drug development.

Lacombe D, Tejpar S, Salgado R, Cardoso F, Golfinopoulos V, Aust D, Folprecht G, Roth A, Stupp R.

Nat Rev Clin Oncol. 2014 Jun 17. doi: 10.1038/nrclinonc.2014.98. [Epub ahead of print]

PMID:
24935010
[PubMed - as supplied by publisher]
2.

Defining dose-limiting toxicity for phase 1 trials of molecularly targeted agents: Results of a DLT-TARGETT international survey.

Paoletti X, Le Tourneau C, Verweij J, Siu LL, Seymour L, Postel-Vinay S, Collette L, Rizzo E, Ivy P, Olmos D, Massard C, Lacombe D, Kaye SB, Soria JC.

Eur J Cancer. 2014 Aug;50(12):2050-6. doi: 10.1016/j.ejca.2014.04.030. Epub 2014 Jun 10.

PMID:
24928189
[PubMed - in process]
3.

A novel FTL mutation responsible for neuroferritinopathy with asymmetric clinical features and brain anomalies.

Moutton S, Fergelot P, Trocello JM, Plante-Bordeneuve V, Houcinat N, Wenisch E, Larue V, Brugières P, Clot F, Lacombe D, Arveiler B, Goizet C.

Parkinsonism Relat Disord. 2014 May 9. pii: S1353-8020(14)00179-5. doi: 10.1016/j.parkreldis.2014.04.026. [Epub ahead of print] No abstract available.

PMID:
24907184
[PubMed - as supplied by publisher]
4.

Towards new methods for the determination of dose limiting toxicities and the assessment of the recommended dose for further studies of molecularly targeted agents - Dose-Limiting Toxicity and Toxicity Assessment Recommendation Group for Early Trials of Targeted therapies, an European Organisation for Research and Treatment of Cancer-led study.

Postel-Vinay S, Collette L, Paoletti X, Rizzo E, Massard C, Olmos D, Fowst C, Levy B, Mancini P, Lacombe D, Ivy P, Seymour L, Le Tourneau C, Siu LL, Kaye SB, Verweij J, Soria JC.

Eur J Cancer. 2014 Aug;50(12):2040-9. doi: 10.1016/j.ejca.2014.04.031. Epub 2014 May 28.

PMID:
24880774
[PubMed - in process]
5.

Mutations in SETD2 cause a novel overgrowth condition.

Luscan A, Laurendeau I, Malan V, Francannet C, Odent S, Giuliano F, Lacombe D, Touraine R, Vidaud M, Pasmant E, Cormier-Daire V.

J Med Genet. 2014 Aug;51(8):512-7. doi: 10.1136/jmedgenet-2014-102402. Epub 2014 May 22.

PMID:
24852293
[PubMed - in process]
6.

New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity.

Vuillaume ML, Naudion S, Banneau G, Diene G, Cartault A, Cailley D, Bouron J, Toutain J, Bourrouillou G, Vigouroux A, Bouneau L, Nacka F, Kieffer I, Arveiler B, Knoll-Gellida A, Babin PJ, Bieth E, Jouret B, Julia S, Sarda P, Geneviève D, Faivre L, Lacombe D, Barat P, Tauber M, Delrue MA, Rooryck C.

Am J Med Genet A. 2014 Aug;164(8):1965-75. doi: 10.1002/ajmg.a.36587. Epub 2014 Apr 29.

PMID:
24782328
[PubMed - in process]
7.

[Should we consider newborn screening for Pompe disease?].

Lacombe D, Verloes A.

Arch Pediatr. 2014 Jun;21(6):561-3. doi: 10.1016/j.arcped.2014.03.013. Epub 2014 Apr 24. French. No abstract available.

PMID:
24768068
[PubMed - in process]
8.

New insights into genotype-phenotype correlation for GLI3 mutations.

Démurger F, Ichkou A, Mougou-Zerelli S, Le Merrer M, Goudefroye G, Delezoide AL, Quélin C, Manouvrier S, Baujat G, Fradin M, Pasquier L, Megarbané A, Faivre L, Baumann C, Nampoothiri S, Roume J, Isidor B, Lacombe D, Delrue MA, Mercier S, Philip N, Schaefer E, Holder M, Krause A, Laffargue F, Sinico M, Amram D, André G, Liquier A, Rossi M, Amiel J, Giuliano F, Boute O, Dieux-Coeslier A, Jacquemont ML, Afenjar A, Van Maldergem L, Lackmy-Port-Lis M, Vincent-Delorme C, Chauvet ML, Cormier-Daire V, Devisme L, Geneviève D, Munnich A, Viot G, Raoul O, Romana S, Gonzales M, Encha-Razavi F, Odent S, Vekemans M, Attie-Bitach T.

Eur J Hum Genet. 2014 Apr 16. doi: 10.1038/ejhg.2014.62. [Epub ahead of print]

PMID:
24736735
[PubMed - as supplied by publisher]
9.

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

Curie A, Nazir T, Brun A, Paulignan Y, Reboul A, Delange K, Cheylus A, Bertrand S, Rochefort F, Bussy G, Marignier S, Lacombe D, Chiron C, Cossée M, Leheup B, Philippe C, Laugel V, De Saint Martin A, Sacco S, Poirier K, Bienvenu T, Souville I, Gilbert-Dussardier B, Bieth E, Kauffmann D, Briot P, de Fréminville B, Prieur F, Till M, Rooryck-Thambo C, Mortemousque I, Bobillier-Chaumont I, Toutain A, Touraine R, Sanlaville D, Chelly J, Freeman S, Kong J, Hadjikhani N, Gollub RL, Roy A, des Portes V.

Orphanet J Rare Dis. 2014 Feb 14;9:25. doi: 10.1186/1750-1172-9-25.

PMID:
24528893
[PubMed - in process]
Free PMC Article
10.

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.

Lehalle D, Gordon CT, Oufadem M, Goudefroye G, Boutaud L, Alessandri JL, Baena N, Baujat G, Baumann C, Boute-Benejean O, Caumes R, Decaestecker C, Gaillard D, Goldenberg A, Gonzales M, Holder-Espinasse M, Jacquemont ML, Lacombe D, Manouvrier-Hanu S, Marlin S, Mathieu-Dramard M, Morin G, Pasquier L, Petit F, Rio M, Smigiel R, Thauvin-Robinet C, Vasiljevic A, Verloes A, Malan V, Munnich A, de Pontual L, Vekemans M, Lyonnet S, Attié-Bitach T, Amiel J.

Hum Mutat. 2014 Apr;35(4):478-85. doi: 10.1002/humu.22517. Epub 2014 Mar 5.

PMID:
24470203
[PubMed - in process]
11.

Cutaneous manifestations in Costello and cardiofaciocutaneous syndrome: report of 18 cases and literature review.

Morice-Picard F, Ezzedine K, Delrue MA, Arveiler B, Fergelot P, Taïeb A, Lacombe D, Boralevi F.

Pediatr Dermatol. 2013 Nov-Dec;30(6):665-73. doi: 10.1111/pde.12171.

PMID:
24283439
[PubMed - in process]
12.

C5orf42 is the major gene responsible for OFD syndrome type VI.

Lopez E, Thauvin-Robinet C, Reversade B, Khartoufi NE, Devisme L, Holder M, Ansart-Franquet H, Avila M, Lacombe D, Kleinfinger P, Kaori I, Takanashi J, Le Merrer M, Martinovic J, Noël C, Shboul M, Ho L, Güven Y, Razavi F, Burglen L, Gigot N, Darmency-Stamboul V, Thevenon J, Aral B, Kayserili H, Huet F, Lyonnet S, Le Caignec C, Franco B, Rivière JB, Faivre L, Attié-Bitach T.

Hum Genet. 2014 Mar;133(3):367-77. doi: 10.1007/s00439-013-1385-1. Epub 2013 Nov 1.

PMID:
24178751
[PubMed - indexed for MEDLINE]
13.

High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene.

Morice-Picard F, Lasseaux E, Cailley D, Gros A, Toutain J, Plaisant C, Simon D, François S, Gilbert-Dussardier B, Kaplan J, Rooryck C, Lacombe D, Arveiler B.

Pigment Cell Melanoma Res. 2014 Jan;27(1):59-71. doi: 10.1111/pcmr.12173. Epub 2013 Oct 23.

PMID:
24118800
[PubMed - in process]
14.

[Clinical signs of Marfan syndrome in children under 10 years of age].

Laffargue F, Lienhardt-Roussie A, Lacombe D, Delrue MA.

Arch Pediatr. 2013 Nov;20(11):1193-200. doi: 10.1016/j.arcped.2013.08.009. Epub 2013 Sep 30. French.

PMID:
24090671
[PubMed - indexed for MEDLINE]
15.

New validated prognostic models and prognostic calculators in patients with low-grade gliomas diagnosed by central pathology review: a pooled analysis of EORTC/RTOG/NCCTG phase III clinical trials.

Gorlia T, Wu W, Wang M, Baumert BG, Mehta M, Buckner JC, Shaw E, Brown P, Stupp R, Galanis E, Lacombe D, van den Bent MJ.

Neuro Oncol. 2013 Nov;15(11):1568-79. doi: 10.1093/neuonc/not117. Epub 2013 Sep 18.

PMID:
24049111
[PubMed - indexed for MEDLINE]
16.

Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.

Chassaing N, Causse A, Vigouroux A, Delahaye A, Alessandri JL, Boespflug-Tanguy O, Boute-Benejean O, Dollfus H, Duban-Bedu B, Gilbert-Dussardier B, Giuliano F, Gonzales M, Holder-Espinasse M, Isidor B, Jacquemont ML, Lacombe D, Martin-Coignard D, Mathieu-Dramard M, Odent S, Picone O, Pinson L, Quelin C, Sigaudy S, Toutain A, Thauvin-Robinet C, Kaplan J, Calvas P.

Clin Genet. 2013 Sep 10. doi: 10.1111/cge.12275. [Epub ahead of print]

PMID:
24033328
[PubMed - as supplied by publisher]
17.

SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.

Morice-Picard F, Lasseaux E, François S, Simon D, Rooryck C, Bieth E, Colin E, Bonneau D, Journel H, Walraedt S, Leroy BP, Meire F, Lacombe D, Arveiler B.

J Invest Dermatol. 2014 Feb;134(2):568-71. doi: 10.1038/jid.2013.360. Epub 2013 Aug 28. No abstract available.

PMID:
23985994
[PubMed - indexed for MEDLINE]
18.

Finger creases lend a hand in Kabuki syndrome.

Michot C, Corsini C, Sanlaville D, Baumann C, Toutain A, Philip N, Busa T, Holder M, Faivre L, Odent S, Delrue MA, Till M, Jacquemont ML, Cordier MP, Goldenberg A, Sanchez E, Alix E, Poisson S, Kayirangwa H, Lacombe D, Gilbert-Dussardier B, Pelet A, Roume J, Jacquette A, Isidor B, Giuliano F, Burglen L, Fradin M, Schaefer E, Alembick Y, Doray B, Moncla A, Héron D, Willems M, Pinson L, Le Quan Sang KH, Le Merrer M, Cormier-Daire V, Sarda P, Amiel J, Lyonnet S, Geneviève D.

Eur J Med Genet. 2013 Oct;56(10):556-60. doi: 10.1016/j.ejmg.2013.07.005. Epub 2013 Aug 7.

PMID:
23933090
[PubMed - indexed for MEDLINE]
19.

Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication.

Vuillaume ML, Delrue MA, Naudion S, Toutain J, Fergelot P, Arveiler B, Lacombe D, Rooryck C.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):90-7. doi: 10.1016/j.ymgme.2013.07.013. Epub 2013 Jul 20.

PMID:
23920044
[PubMed - indexed for MEDLINE]
20.

New clinical, pathological and molecular prognostic models and calculators in patients with locally diagnosed anaplastic oligodendroglioma or oligoastrocytoma. A prognostic factor analysis of European Organisation for Research and Treatment of Cancer Brain Tumour Group Study 26951.

Gorlia T, Delattre JY, Brandes AA, Kros JM, Taphoorn MJ, Kouwenhoven MC, Bernsen HJ, Frénay M, Tijssen CC, Lacombe D, van den Bent MJ.

Eur J Cancer. 2013 Nov;49(16):3477-85. doi: 10.1016/j.ejca.2013.06.039. Epub 2013 Jul 26.

PMID:
23896377
[PubMed - indexed for MEDLINE]

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