V. Tardy

发表

New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes.

M. Forest, J. Simard, J. Chaussain, 1999, The Journal of clinical endocrinology and metabolism.

Pseudoexon activation in the PKHD1 gene: a French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease

V. Tardy, Y. Morel, L. Michel-Calemard, 2009, Clinical genetics.

Transient hyper-17-hydroxyprogesteronemia: a clinical subgroup of patients diagnosed at neonatal screening for congenital adrenal hyperplasia.

M. Polak, C. Elie, M. Déchaux, 2009, European journal of endocrinology.

Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

D. Charron, V. Tardy, Y. Morel, 2001, The Journal of clinical endocrinology and metabolism.

Follow-up of 68 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: relevance of genotype for management.

V. Tardy, Y. Morel, C. Nihoul-Fékété, 2003, The Journal of clinical endocrinology and metabolism.

Premature pubarche in Mediterranean girls: high prevalence of heterozygous CYP21 mutation carriers

M. Picot, C. Sultan, V. Tardy, 2010, Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology.

ESPE Bulletin Board

F. Santilli, K. Lindsten, E. Chouery, 2000, Hormone Research in Paediatrics.

Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

D. Charron, V. Tardy, Y. Morel, 2001, The Journal of clinical endocrinology and metabolism.

21-Hydroxylase deficiency: an exemplary model of the contribution of molecular biology in the understanding and management of the disease.

M. Forest, M. Nicolino, V. Tardy, 2005, Annales d'endocrinologie.

Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members.

J. Golmard, C. Bellanné-Chantelot, P. Touraine, 2009, The Journal of clinical endocrinology and metabolism.

Detection and management of late-onset 21-hydroxylase deficiency in women with hyperandrogenism.

V. Tardy, Y. Morel, A. Bachelot, 2010, Annales d'endocrinologie.

A New Insight Into the Molecular Basis of 3β-Hydroxysteroid Dehydrogenase Deficiency

J. Simard, A. Moisan, M. Ricketts, 2000, Endocrine research.

Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation.

L. B. Jemaa, V. Tardy, Y. Morel, 2004, The Journal of clinical endocrinology and metabolism.

Evolution of steroids during pregnancy: Maternal, placental and fetal synthesis.

C. Goursaud, V. Tardy, Y. Morel, 2016, Annales d'endocrinologie.

Adrenal rest tissue in gonads of patients with classical congenital adrenal hyperplasia: multicenter study of 45 French male patients.

P. Lecomte, V. Tardy, Y. Morel, 2012, Annales d'endocrinologie.

Laparoscopic-assisted vaginal pull-through: A new approach for congenital adrenal hyperplasia patients with high urogenital sinus

P. Mouriquand, V. Tardy, Y. Morel, 2015, African journal of paediatric surgery : AJPS.

Pathophysiology and Classification of Disorders of Sex Development

V. Tardy, Y. Morel, D. Mallet, 2015 .

Clinical, biochemical, and biomolecular aspects of congenital adrenal hyperplasia in a group of Cameroonian children and adolescents

E. Sobngwi, V. Tardy, Y. Morel, 2022, Journal of pediatric endocrinology & metabolism : JPEM.

Fertility in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

J. Golmard, C. Bellanné-Chantelot, P. Touraine, 2010, The Journal of clinical endocrinology and metabolism.

Precocious pubarche: distinguishing late-onset congenital adrenal hyperplasia from premature adrenarche.

V. Tardy, M. Chalumeau, J. Armengaud, 2009, The Journal of clinical endocrinology and metabolism.

How a patient homozygous for a 30-kb deletion of the C4-CYP 21 genomic region can have a nonclassic form of 21-hydroxylase deficiency.

A. Grüters, H. Krude, V. Tardy, 2000, The Journal of clinical endocrinology and metabolism.

Molecular Defects of the CYP21A2 Gene in Greek-Cypriot Patients with Congenital Adrenal Hyperplasia

P. Patsalis, V. Tardy, C. Shammas, 2010, Hormone Research in Paediatrics.

Mutational Analysis in Lebanese Patients with Congenital Adrenal Hyperplasia due to a Deficit in 21-Hydroxylase

E. Chouery, A. Mégarbané, J. Loiselet, 2000, Hormone Research in Paediatrics.

Prenatal diagnosis of steroid 21-hydroxylase-deficient congenital adrenal hyperplasia: Experience from a tertiary care centre in India

Pankaj Sharma, M. Kabra, V. Tardy, 2017, The Indian journal of medical research.

CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation

A. El Hessni, V. Tardy, Y. Morel, 2008, Clinical chemistry and laboratory medicine.

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.

Efficiency of neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency in children born in mainland France between 1996 and 2003.

J. Coste, J. Carel, V. Tardy, 2012, Archives of pediatrics & adolescent medicine.

Adrenocortical incidentaloma with uncertain prognosis associated with an inadequately treated congenital adrenal hyperplasia.

V. Tardy, N. Chevalier, P. Fénichel, 2010, Annales d'endocrinologie.

Secondary amenorrhoea associated with high serum 17‐hydroxyprogesterone levels revealing a heterozygous CYP21A2 mutation in a woman with Addison disease

Jacques Young, V. Tardy, H. Bry-Gauillard, 2015, Clinical endocrinology.

Title : Efficiency of neonatal screening for congenital adrenal 1 hyperplasia due to 21-hydroxylase deficiency in children born in mainland 2 France between 1996 and 2003 3 Short title : Screening for congenital adrenal hyperplasia 4

J. Coste, J. Carel, V. Tardy, 2012 .

p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency.

V. Tardy, Y. Morel, J. Brossier, 2008, The Journal of clinical endocrinology and metabolism.

Growth curves for congenital adrenal hyperplasia from a national retrospective cohort

P. Chatelain, M. Nicolino, B. Riche, 2016, Journal of pediatric endocrinology & metabolism : JPEM.

[21 hydroxylase deficiency: new strategies emerging from molecular studies].

M. Forest, V. Tardy, Y. Morel, 2003, Annales d'endocrinologie.

Fertility and pregnancy outcomes in women with nonclassic 21‐hydroxylase deficiency

C. Bellanné-Chantelot, P. Touraine, V. Tardy, 2022, Clinical endocrinology.

Transient hyper-17-hydroxyprogesteronemia: a clinical subgroup of patients diagnosed at neonatal screening for congenital adrenal hyperplasia.

M. Polak, C. Elie, M. Déchaux, 2009, European journal of endocrinology.