Hypoplastic left heart in cerebrocostomandibular syndrome.

Por Kirk, E, Ades, L
Publicado em 1998

Treatment of Acute Promyelocytic Leukemia with High White Cell Blood Counts.

Por Kelaidi, C., Adès, L., Fenaux, P.
Publicado em 2011

Hydrocephalus in Hajdu-Cheney syndrome.

Por Adès, L C, Morris, L L, Haan, E A
Publicado em 1993

Myocardial infarction resulting from coronary artery dissection in an adolescent with Ehlers-Danlos syndrome type IV due to a type III collagen mutation.

Por Adès, L. C., Waltham, R. D., Chiodo, A. A., Bateman, J. F.
Publicado em 1995

Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome.

Por Adès, L C, Haan, E A, Colley, A F, Richard, R I
Publicado em 1996

Congenital heart malformation in Yunis-Varón syndrome.

Por Adès, L C, Morris, L L, Richardson, M, Pearson, C, Haan, E A
Publicado em 1993

Overlapping submicroscopic deletions in Xq28 in two unrelated boys with developmental disorders: identification of a gene near FRAXE.

Por Gedeon, A K, Meinänen, M, Adès, L C, Kääriäinen, H, Gécz, J, Baker, E, Sutherland, G R, Mulley, J C
Publicado em 1995

Does increasing the JAK2V617F assay sensitivity allow to identify more patients with MPN?

Por Kouroupi, E, Kiladjian, J-J, Dosquet, C, Menot, M-L, Bonnin, N, Ades, L, Vainchenker, W, Chomienne, C, Cassinat, B
Publicado em 2012

Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.

Por Mowat, D R, Croaker, G D, Cass, D T, Kerr, B A, Chaitow, J, Adès, L C, Chia, N L, Wilson, M J
Publicado em 1998

pVAX14DNA-mediated add-on immunotherapy combined with arsenic trioxide and all-trans retinoic acid targeted therapy effectively increases the survival of acute promyelocytic leukem...

Por Patel, S, Guerenne, L, Gorombei, P, Omidvar, N, Schlageter, M-H, Alex, A A, Ganesan, S, West, R, Adès, L, Mathews, V, Krief, P, Pla, M, Fenaux, P, Chomienne, C, Padua, R A
Publicado no Blood Cancer J (2015)

Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.

Por Collod-Béroud, G, Béroud, C, Adès, L, Black, C, Boxer, M, Brock, D J, Godfrey, M, Hayward, C, Karttunen, L, Milewicz, D, Peltonen, L, Richards, R I, Wang, M, Junien, C, Boileau, C
Publicado em 1997

Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

Por Reardon, W., Smith, A., Honour, J., Hindmarsh, P., Das, D., Rumsby, G., Nelson, I., Malcolm, S., Ades, L., Sillence, D., Kumar, D., DeLozier-Blanchet, C., McKee, S., Kelly, T., McKeehan, W., Baraitser, M., Winter, R.
Publicado em 2000

Preclinical modeling of myelodysplastic syndromes

Por Rouault-Pierre, K, Mian, S A, Goulard, M, Abarrategi, A, Di Tulio, A, Smith, A E, Mohamedali, A, Best, S, Nloga, A-M, Kulasekararaj, A G, Ades, L, Chomienne, C, Fenaux, P, Dosquet, C, Mufti, G J, Bonnet, D
Publicado no Leukemia (2017)

Marfan Database (third edition): new mutations and new routines for the software.

Por Collod-Béroud, G, Béroud, C, Ades, L, Black, C, Boxer, M, Brock, D J, Holman, K J, de Paepe, A, Francke, U, Grau, U, Hayward, C, Klein, H G, Liu, W, Nuytinck, L, Peltonen, L, Alvarez Perez, A B, Rantamäki, T, Junien, C, Boileau, C
Publicado em 1998

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations

Por Alders, M., Mendola, A., Adès, L., Al Gazali, L., Bellini, C., Dallapiccola, B., Edery, P., Frank, U., Hornshuh, F., Huisman, S.A., Jagadeesh, S., Kayserili, H., Keng, W.T., Lev, D., Prada, C.E., Sampson, J.R., Schmidtke, J., Shashi, V., van Bever, Y., Van der Aa, N., Verhagen, J.M., Verheij, J.B., Vikkula, M., Hennekam, R.C.
Publicado em 2013

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation

Por Faivre, L, Collod-Beroud, G, Callewaert, B, Child, A, Binquet, C, Gautier, E, Loeys, B L, Arbustini, E, Mayer, K, Arslan-Kirchner, M, Stheneur, C, Kiotsekoglou, A, Comeglio, P, Marziliano, N, Wolf, J E, Bouchot, O, Khau-Van-Kien, P, Beroud, C, Claustres, M, Bonithon-Kopp, C, Robinson, P N, Adès, L, De Backer, J, Coucke, P, Francke, U, De Paepe, A, Jondeau, G, Boileau, C
Publicado em 2009

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome

Por Muenke, M., Gripp, K. W., McDonald-McGinn, D. M., Gaudenz, K., Whitaker, L. A., Bartlett, S. P., Markowitz, R. I., Robin, N. H., Nwokoro, N., Mulvihill, J. J., Losken, H. W., Mulliken, J. B., Guttmacher, A. E., Wilroy, R. S., Clarke, L. A., Hollway, G., Adès, L. C., Haan, E. A., Mulley, J. C., Cohen, M. M., Bellus, G. A., Francomano, C. A., Moloney, D. M., Wall, S. A., Wilkie, A. O. M., Zackai, E. H.
Publicado em 1997

Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study

Por Faivre, L. , Collod-Beroud, G. , Loeys, B. L. , Child, A. , Binquet, C. , Gautier, E. , Callewaert, B. , Arbustini, E. , Mayer, K. , Arslan-Kirchner, M. , Kiotsekoglou, A. , Comeglio, P. , Marziliano, N. , Dietz, H. C. , Halliday, D. , Beroud, C. , Bonithon-Kopp, C. , Claustres, M. , Muti, C. , Plauchu, H. , Robinson, P. N. , Adès, L. C. , Biggin, A. , Benetts, B. , Brett, M. , Holman, K. J. , De Backer, J. , Coucke, P. , Francke, U. , De Paepe, A. , Jondeau, G. , Boileau, C. 
Publicado em 2007