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Beatrice DUBERN
Beatrice DUBERN
Professeur de pédiatrie, Sorbonne Université
在 aphp.fr 的电子邮件经过验证
标题
引用次数
引用次数
年份
Presence of increased stiffness of the common carotid artery and endothelial dysfunction in severely obese children: a prospective study
P Tounian, Y Aggoun, B Dubern, V Varille, B Guy-Grand, D Sidi, ...
The Lancet 358 (9291), 1400-1404, 2001
11932001
Diagnosis and management of Silver–Russell syndrome: first international consensus statement
EL Wakeling, F Brioude, O Lokulo-Sodipe, SM O'Connell, J Salem, J Bliek, ...
Nature Reviews Endocrinology 13 (2), 105-124, 2017
4792017
Melanocortin 4 receptor mutations in a large cohort of severely obese adults: prevalence, functional classification, genotype-phenotype relationship, and lack of association …
C Lubrano-Berthelier, B Dubern, JM Lacorte, F Picard, A Shapiro, ...
The Journal of Clinical Endocrinology & Metabolism 91 (5), 1811-1818, 2006
3102006
Efficacy and safety of setmelanotide, an MC4R agonist, in individuals with severe obesity due to LEPR or POMC deficiency: single-arm, open-label, multicentre, phase 3 trials
K Clément, E van den Akker, J Argente, A Bahm, WK Chung, H Connors, ...
The lancet Diabetes & endocrinology 8 (12), 960-970, 2020
3092020
Rare genetic forms of obesity: clinical approach and current treatments in 2016
H Huvenne, B Dubern, K Clément, C Poitou
Obesity facts 9 (3), 158-173, 2016
2762016
Mutational analysis of melanocortin-4 receptor, agouti-related protein, and α-melanocyte-stimulating hormone genes in severely obese children
B Dubern, K Clément, V Pelloux, P Froguel, JP Girardet, B Guy-Grand, ...
The Journal of pediatrics 139 (2), 204-209, 2001
2722001
Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations
C Lubrano-Berthelier, E Durand, B Dubern, A Shapiro, P Dazin, J Weill, ...
Human molecular genetics 12 (2), 145-153, 2003
2692003
Evaluation of a melanocortin-4 receptor (MC4R) agonist (Setmelanotide) in MC4R deficiency
TH Collet, B Dubern, J Mokrosinski, H Connors, JM Keogh, ...
Molecular metabolism 6 (10), 1321-1329, 2017
2672017
Leptin and leptin receptor-related monogenic obesity
B Dubern, K Clement
Biochimie 94 (10), 2111-2115, 2012
1702012
Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia
M Di Filippo, P Moulin, P Roy, ME Samson-Bouma, S Collardeau-Frachon, ...
Journal of hepatology 61 (4), 891-902, 2014
1542014
Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome
LC Burnett, CA LeDuc, CR Sulsona, D Paull, R Rausch, S Eddiry, ...
The Journal of clinical investigation 127 (1), 293-305, 2017
1512017
Molecular genetics of human obesity‐associated MC4R mutations
C LUBRANO‐BERTHELIER, M Cavazos, B Dubern, A Shapiro, ...
Annals of the New York Academy of Sciences 994 (1), 49-57, 2003
1462003
Genome wide association study identifies KCNMA1contributing to human obesity
H Jiao, P Arner, J Hoffstedt, D Brodin, B Dubern, S Czernichow, ...
BMC medical genomics 4, 1-10, 2011
1122011
Unexpected endocrine features and normal pigmentation in a young adult patient carrying a novel homozygous mutation in the POMC gene
K Clément, B Dubern, M Mencarelli, P Czernichow, S Ito, K Wakamatsu, ...
The Journal of Clinical Endocrinology & Metabolism 93 (12), 4955-4962, 2008
1032008
Cart Overexpression Is the Only Identifiable Cause of High Bone Mass in Melanocortin 4 Receptor Deficiency
JD Ahn, B Dubern, C Lubrano-Berthelier, K Clement, G Karsenty
Endocrinology 147 (7), 3196-3202, 2006
1012006
Plasma citrulline concentration reflects enterocyte mass in children with short bowel syndrome
C Bailly-Botuha, V Colomb, E Thioulouse, MC Berthe, K Garcette, ...
Pediatric research 65 (5), 559-563, 2009
1002009
Homozygous null mutation of the melanocortin-4 receptor and severe early-onset obesity
B Dubern, S Bisbis, H Talbaoui, J Le Beyec, P Tounian, JM Lacorte, ...
The Journal of pediatrics 150 (6), 613-617. e1, 2007
992007
Seven Novel Deleterious LEPR Mutations Found in Early-Onset Obesity: a ΔExon6–8 Shared by Subjects From Reunion Island, France, Suggests a Founder Effect
H Huvenne, J Le Beyec, D Pépin, R Alili, PP Kherchiche, E Jeannic, ...
The Journal of Clinical Endocrinology & Metabolism 100 (5), E757-E766, 2015
892015
Rare melanocortin-3 receptor mutations with in vitro functional consequences are associated with human obesity
M Mencarelli, B Dubern, R Alili, S Maestrini, L Benajiba, M Tagliaferri, ...
Human molecular genetics 20 (2), 392-399, 2011
882011
Mutational analysis of the pro-opiomelanocortin gene in French obese children led to the identification of a novel deleterious heterozygous mutation located in the α-melanocyte …
B Dubern, C Lubrano-Berthelier, M Mencarelli, B Ersoy, ML Frelut, ...
Pediatric research 63 (2), 211-216, 2008
822008
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