M. Houang

发表

11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations.

G. Pinto, C. Gicquel, Y. Le Bouc, 2007, The Journal of clinical endocrinology and metabolism.

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome with renal failure: impact of posttransplant immunosuppression on disease activity.

G. Deschênes, A. Bensman, N. Chabbert-Buffet, 2006, The Journal of clinical endocrinology and metabolism.

Increasing knowledge in IGF1R defects: lessons from 35 new patients

Y. Le Bouc, M. Cuvelier, B. Isidor, 2019, Journal of Medical Genetics.

IGF type 1 receptor ligand binding characteristics are altered in a subgroup of children with intrauterine growth retardation.

M. Holzenberger, Y. Le Bouc, B. Ducos, 2001, The Journal of clinical endocrinology and metabolism.

A proof of concept of a machine learning algorithm to predict late-onset 21-hydroxylase deficiency in children with premature pubic hair

J. Fiet, I. Netchine, M. Houang, 2022, The Journal of Steroid Biochemistry and Molecular Biology.

The Cortisol-Cortisone Shuttle in Children Born with Intrauterine Growth Retardation

J. Fiet, M. Houang, Y. Bouc, 1999, Pediatric Research.

SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations

C. Petit, F. Denoyelle, V. Drouin‐Garraud, 2006, European Journal of Human Genetics.

Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity

C. Petit, F. Denoyelle, A. Toutain, 2004, Clinical genetics.

Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome

C. Gicquel, V. Barbu, S. Cabrol, 2005, Nature Genetics.

Mutations in the maternally imprinted gene MKRN3 are common in familial central precocious puberty.

N. de Roux, J. Carel, M. Salerno, 2016, European journal of endocrinology.

Partial primary deficiency of insulin-like growth factor (IGF)-I activity associated with IGF1 mutation demonstrates its critical role in growth and brain development.

J. Mester, Y. Le Bouc, J. Ricort, 2009, Journal of Clinical Endocrinology and Metabolism.

Partial primary deficiency of insulin-like growth factor (IGF)-I activity associated with IGF1 mutation demonstrates its critical role in growth and brain development.

J. Mester, Y. Le Bouc, J. Ricort, 2009, The Journal of clinical endocrinology and metabolism.

Four families with loss of function mutations of the thyrotropin receptor.

E. Milgrom, Y. Le Bouc, N. de Roux, 1996, The Journal of clinical endocrinology and metabolism.

Insulin-like growth factor-I (IGF-I), insulin-like growth factor binding proteins (IGFBP) and insulin-like growth factor type I receptor in children with various status of chronic renal failure.

Y. Le Bouc, B. Ducos, L. Périn, 2000, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

Serum Adiponectin and Leptin Concentrations in HIV-Infected Children with Fat Redistribution Syndrome

C. Levy-marchal, J. Bresson, C. Dollfus, 2006, Pediatric Research.

Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)

P. Chanson, M. Elmaleh, A. Cohen, 2022, Orphanet Journal of Rare Diseases.

New management strategy of pregnancies at risk of congenital adrenal hyperplasia using fetal sex determination in maternal serum: French cohort of 258 cases (2002-2011).

N. Philip, C. Baumann, S. Odent, 2014, The Journal of clinical endocrinology and metabolism.

Follow up of precocious pseudopuberty associated with isolated ovarian follicular cysts

C. Beldjord, M. Houang, R. Rappaport, 1999, Archives of disease in childhood.

Longitudinal Evaluation and Risk Factors of Lipodystrophy and Associated Metabolic Changes in HIV-Infected Children

C. Levy-marchal, J. Bresson, C. Dollfus, 2005, Journal of acquired immune deficiency syndromes.

Perrault syndrome: Report of four new cases, review and exclusion of candidate genes

F. Denoyelle, D. Lacombe, D. Bonneau, 2008, American journal of medical genetics. Part A.

Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit

B. Donadille, S. Christin‐Maitre, J. Siffroi, 2018, Endocrine connections.

DNA polymorphisms of the KiSS1 3′ Untranslated region interfere with the folding of a G-rich sequence into G-quadruplex

J. Carel, N. Roux, M. Houang, 2012, Molecular and Cellular Endocrinology.

Frequency and incidence of Carney complex manifestations: a prospective multicenter study with a three-year follow-up.

A. Tabarin, F. Brucker-Davis, A. Feydy, 2020, The Journal of clinical endocrinology and metabolism.

Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients

F. Denoyelle, Y. Le Bouc, J. Siffroi, 2007, Clinical dysmorphology.

Phenotypic variation of SF1 gene mutations.

M. Polak, G. Pinto, D. Damiani, 2011, Advances in experimental medicine and biology.

Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations.

M. Fassnacht, J. Drouin, A. Barlier, 2012, The Journal of clinical endocrinology and metabolism.

Rathke Cleft Cysts and Endocrine Dysfunction in Children

M. Houang, B. Esteva, F. Brioude, 2014 .

Age at diagnosis in patients with chronic congenital endocrine conditions: a regional cohort study from a reference center for rare diseases

M. Polak, B. Donadille, P. Touraine, 2021, Orphanet Journal of Rare Diseases.

Hypogonadotrophic Hypogonadism Associated with Prelingual Deafness due to a Connexin 26 Gene Mutation

F. Denoyelle, Y. Le Bouc, E. Garabédian, 2002, Journal of pediatric endocrinology & metabolism : JPEM.

Association of Maternal First Trimester Serum Levels of Free-Beta Human Chorionic Gonadotrophin and Hypospadias: A Population-Based Study.

A. Benachi, N. Lelong, J. Siffroi, 2019, The Journal of urology.

Silver Russell syndrome: A Cause of Partial IGF1 Resistance?

L. Périn, I. Netchine, M. Dufourg, 2015 .

Combining metabolomics and machine learning models as a tool to distinguish non-classic 21-hydroxylase deficiency from polycystic ovary syndrome without adrenocorticotropic hormone testing.

Jacques Young, Y. Le Bouc, J. Salem, 2022, Human reproduction.

Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias

S. Amselem, J. Siffroi, N. Collot, 2018, Sexual Development.