A. Lienhardt-Roussie

发表

Association of environmental markers with childhood type 1 diabetes mellitus revealed by a long questionnaire on early life exposures and lifestyle in a case–control study

Pierre Lecomte, A. J. Valleron, Isabelle Guilhem, 2016, BMC Public Health.

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

D. Lacombe, M. Delrue, F. Laffargue, 2013, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Genetic disruption of the oncogenic HMGA2–PLAG1–IGF2 pathway causes fetal growth restriction

T. Yuen, Y. Le Bouc, F. Tixier, 2017, Genetics in Medicine.

Treatment experience and long-term follow-up data in two severe neonatal hyperparathyroidism cases

Erdal Kurnaz, Z. Aycan, S. Çetinkaya, 2016, Journal of pediatric endocrinology & metabolism : JPEM.

Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p.N802 on receptor activity.

J. Salles, F. Sturtz, B. Funalot, 2013, European journal of endocrinology.

A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes.

P. Tonella, B. Conrad, J. Hardelin, 2010, The Journal of clinical endocrinology and metabolism.

Demographic Characteristics, Risk Factors, and Presenting Features of Children with Symptomatic Nutritional Rickets: A French Series

J. Salles, J. Bacchetta, A. Rothenbuhler, 2020, Hormone Research in Paediatrics.

Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in CYP11A1 Gene

C. Goursaud, Y. Morel, F. Roucher-Boulez, 2018, Front. Endocrinol..

Hypoparathyroidism in Children

A. Linglart, A. Lienhardt-Roussie, 2012 .

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

D. Schlessinger, M. Rocchi, M. Uda, 2001, Nature Genetics.

Late prenatal dexamethasone and phenotype variations in 46,XX CAH: concerns about current protocols and benefits for surgical procedures.

P. Chatelain, A. Brac de la Perrière, P. Mouriquand, 2014, Journal of pediatric urology.

P450 Oxidoreductase Deficiency: Loss of Activity Caused by Protein Instability From a Novel L374H Mutation.

C. Flück, A. Pandey, Y. Morel, 2016, The Journal of clinical endocrinology and metabolism.

Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2

C. Petit, J. Hardelin, Jacques Young, 2006, PLoS genetics.

Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier.

V. Sulmont, V. Tardy, Y. Morel, 2010, The Journal of clinical endocrinology and metabolism.

Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p . N 802 on receptor activity

J. Salles, F. Sturtz, B. Funalot, 2013 .

Presenting features and molecular genetics of primary hyperparathyroidism in the paediatric population.

K. Busiah, J. Salles, J. Bacchetta, 2020, European journal of endocrinology.

Association of environmental markers with childhood type 1 diabetes mellitus revealed by a long questionnaire on early life exposures and lifestyle in a case–control study

V. Rigalleau, A. Valleron, Jacques Cohen, 2016, bioRxiv.

P450 Oxidoreductase Deficiency: Loss of Activity Caused by Protein Instability From a Novel L374H Mutation.

C. Flück, A. Pandey, Y. Morel, 2016, The Journal of clinical endocrinology and metabolism.