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Marc Nicolino
Marc Nicolino
Unknown affiliation
Verified email at chu-lyon.fr
Title
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Cited by
Year
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
L Crisponi, M Deiana, A Loi, F Chiappe, M Uda, P Amati, L Bisceglia, ...
Nature genetics 27 (2), 159-166, 2001
11022001
EIF2AK3, encoding translation initiation factor 2-α kinase 3, is mutated in patients with Wolcott-Rallison syndrome
M Delépine, M Nicolino, T Barrett, M Golamaully, G Mark Lathrop, C Julier
Nature genetics 25 (4), 406-409, 2000
10022000
Recombinant human acid α-glucosidase: major clinical benefits in infantile-onset Pompe disease
PS Kishnani, D Corzo, M Nicolino, B Byrne, H Mandel, WL Hwu, N Leslie, ...
Neurology 68 (2), 99-109, 2007
8862007
A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease
PS Kishnani, WL Hwu, H Mandel, M Nicolino, F Yong, D Corzo, ...
The Journal of pediatrics 148 (5), 671-676. e2, 2006
6462006
Clinical features and prognostic factors of listeriosis: the MONALISA national prospective cohort study
C Charlier, É Perrodeau, A Leclercq, B Cazenave, B Pilmis, B Henry, ...
The Lancet Infectious Diseases 17 (5), 510-519, 2017
4832017
Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism
V Senée, C Chelala, S Duchatelet, D Feng, H Blanc, JC Cossec, ...
Nature genetics 38 (6), 682-687, 2006
4052006
Mutant WD-repeat protein in triple-A syndrome
A Tullio-Pelet, R Salomon, S Hadj-Rabia, C Mugnier, MH de Laet, ...
Nature genetics 26 (3), 332-335, 2000
3572000
Chinese hamster ovary cell-derived recombinant human acid α-glucosidase in infantile-onset Pompe disease
PS Kishnani, M Nicolino, T Voit, RC Rogers, ACH Tsai, J Waterson, ...
The Journal of pediatrics 149 (1), 89-97, 2006
3542006
Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease
M Nicolino, B Byrne, JE Wraith, N Leslie, H Mandel, DR Freyer, GL Arnold, ...
Genetics in medicine 11 (3), 210-219, 2009
3432009
Incremental value of continuous glucose monitoring when starting pump therapy in patients with poorly controlled type 1 diabetes: the RealTrend study
D Raccah, V Sulmont, Y Reznik, B Guerci, E Renard, H Hanaire, ...
Diabetes care 32 (12), 2245-2250, 2009
3302009
Large Genomic Rearrangements in the Hepatocyte Nuclear Factor-1β (TCF2) Gene Are the Most Frequent Cause of Maturity-Onset Diabetes of the Young Type 5
C Bellanné-Chantelot, S Clauin, D Chauveau, P Collin, M Daumont, ...
Diabetes 54 (11), 3126-3132, 2005
3252005
Evaluation of gonadal function in 107 intersex patients by means of serum antimullerian hormone measurement
RA Rey, C Belville, C Nihoul-Fékété, L Michel-Calemard, MG Forest, ...
The Journal of Clinical Endocrinology & Metabolism 84 (2), 627-631, 1999
3121999
Oral insulin administration and residual (β-cell function in recent-onset type 1 diabetes: a multicentre randomised controlled trial
L Chaillous, H Lefèvre, C Thivolet, C Boitard, N Lahlou, C Atlan-Gepner, ...
The Lancet 356 (9229), 545-549, 2000
3072000
Juvenile and adult-onset acid maltase deficiency in France: genotype–phenotype correlation
P Laforet, M Nicolino, B Eymard, JP Puech, C Caillaud, L Poenaru, ...
Neurology 55 (8), 1122-1128, 2000
2572000
Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity
V Senée, KM Vattem, M Delépine, LA Rainbow, C Haton, A Lecoq, ...
Diabetes 53 (7), 1876-1883, 2004
2352004
Wolcott-Rallison syndrome
C Julier, M Nicolino
Orphanet journal of rare diseases 5, 1-13, 2010
2182010
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development
S Benko, CT Gordon, D Mallet, R Sreenivasan, C Thauvin-Robinet, ...
Journal of medical genetics 48 (12), 825-830, 2011
2082011
Adult height and pubertal growth in Turner syndrome after treatment with recombinant growth hormone
L Soriano-Guillen, J Coste, E Ecosse, J Léger, M Tauber, S Cabrol, ...
The Journal of Clinical Endocrinology & Metabolism 90 (9), 5197-5204, 2005
1992005
Autoimmune disorders and quadrivalent human papillomavirus vaccination of young female subjects
L Grimaldi‐Bensouda, D Guillemot, B Godeau, J Bénichou, ...
Journal of Internal Medicine 275 (4), 398-408, 2014
1902014
Self-esteem and social adjustment in young women with Turner syndrome—influence of pubertal management and sexuality: population-based cohort study
JC Carel, C Elie, E Ecosse, M Tauber, J Léger, S Cabrol, M Nicolino, ...
The Journal of Clinical Endocrinology & Metabolism 91 (8), 2972-2979, 2006
1872006
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