Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 427

1.

Atypical hematologic and renal manifestations in Neurofibromatosis type I: Coincidence or pathophysiological link?

Van-Gils J, Harambat J, Jubert C, Vidaud D, Llanas B, Perel Y, Lacombe D, Goizet C.

Eur J Med Genet. 2014 Sep 15. pii: S1769-7212(14)00170-0. doi: 10.1016/j.ejmg.2014.09.001. [Epub ahead of print]

PMID:
25234363
[PubMed - as supplied by publisher]
2.

Rare genetic diseases, signalling pathways, and keloid scar formation.

Lacombe D, Morice-Picard F.

Br J Dermatol. 2014 Sep;171(3):452-3. doi: 10.1111/bjd.13257. No abstract available.

PMID:
25234063
[PubMed - in process]
3.

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

Redin C, Gérard B, Lauer J, Herenger Y, Muller J, Quartier A, Masurel-Paulet A, Willems M, Lesca G, El-Chehadeh S, Le Gras S, Vicaire S, Philipps M, Dumas M, Geoffroy V, Feger C, Haumesser N, Alembik Y, Barth M, Bonneau D, Colin E, Dollfus H, Doray B, Delrue MA, Drouin-Garraud V, Flori E, Fradin M, Francannet C, Goldenberg A, Lumbroso S, Mathieu-Dramard M, Martin-Coignard D, Lacombe D, Morin G, Polge A, Sukno S, Thauvin-Robinet C, Thevenon J, Doco-Fenzy M, Genevieve D, Sarda P, Edery P, Isidor B, Jost B, Olivier-Faivre L, Mandel JL, Piton A.

J Med Genet. 2014 Aug 28. pii: jmedgenet-2014-102554. doi: 10.1136/jmedgenet-2014-102554. [Epub ahead of print]

PMID:
25167861
[PubMed - as supplied by publisher]
Free Article
4.

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

Marcos S, Sarfati J, Leroy C, Fouveaut C, Parent P, Metz C, Wolczynski S, Gérard M, Bieth E, Kurtz F, Verier-Mine O, Perrin L, Archambeaud F, Cabrol S, Rodien P, Hove H, Prescott T, Lacombe D, Christin-Maitre S, Touraine P, Hieronimus S, Dewailly D, Young J, Pugeat M, Hardelin JP, Dodé C.

J Clin Endocrinol Metab. 2014 Jul 31:jc20142110. [Epub ahead of print]

PMID:
25077900
[PubMed - as supplied by publisher]
5.

[Genetic aspects of mucopolysaccharidoses].

Lacombe D, Germain DP.

Arch Pediatr. 2014 Jun;21 Suppl 1:S22-6. doi: 10.1016/S0929-693X(14)72255-9. French.

PMID:
25063380
[PubMed - in process]
6.

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.

Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, Faivre L, Giuliano F, Guion Almeida L, Juncos J, Kempers M, Eker HK, Lacombe D, Lin A, Mancini G, Melis D, Lourenço CM, Siu VM, Morin G, Nezarati M, Nowaczyk MJ, Ramer JC, Osimani S, Philip N, Pierpont ME, Procaccio V, Roseli ZS, Rossi M, Rusu C, Sznajer Y, Templin L, Uliana V, Klaus M, Van Bon B, Van Ravenswaaij C, Wainer B, Fry AE, Rump A, Hoischen A, Drunat S, Rivière JB, Dobyns WB, Pilz DT.

Eur J Hum Genet. 2014 Jul 23. doi: 10.1038/ejhg.2014.95. [Epub ahead of print]

PMID:
25052316
[PubMed - as supplied by publisher]
7.

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 Aug;11(8):492-8. doi: 10.1038/nrclinonc.2014.98. Epub 2014 Jun 17.

PMID:
24935010
[PubMed - in process]
8.

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 - indexed for MEDLINE]
9.

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 Aug;20(8):935-7. doi: 10.1016/j.parkreldis.2014.04.026. Epub 2014 May 9. No abstract available.

PMID:
24907184
[PubMed - in process]
10.

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 - indexed for MEDLINE]
11.

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]
12.

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

PMID:
24782328
[PubMed - in process]
13.

[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]
14.

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]
15.

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
16.

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]
17.

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;30(6):665-73. doi: 10.1111/pde.12171. Review.

PMID:
24283439
[PubMed - indexed for MEDLINE]
18.

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]
19.

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 - indexed for MEDLINE]
20.

[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]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Loading ...
Write to the Help Desk