P. Philibert

P. Philibert, C. Sultan, F. Paris, 2013, Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology.

Using Experimental Models to Decipher the Effects of Acetaminophen and NSAIDs on Reproductive Development and Health

P. Philibert, S. Déjardin, B. Boizet-Bonhoure, 2022, Frontiers in Toxicology.

Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutations.

P. Philibert, C. Sultan, S. Ten, 2010, Fertility and sterility.

Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients.

M. Polak, A. Grüters, Z. Hochberg, 2011, The Journal of clinical endocrinology and metabolism.

Isolated 'idiopathic' micropenis: hidden genetic defects?

P. Philibert, C. Sultan, S. Ten, 2011, International journal of andrology.

Predominant Sertoli cell deficiency in a 46,XY disorders of sex development patient with a new NR5A1/SF-1 mutation transmitted by his unaffected father.

M. Polak, P. Philibert, C. Sultan, 2011, Fertility and sterility.

Isolated micropenis reveals partial androgen insensitivity syndrome confirmed by molecular analysis.

P. Philibert, C. Sultan, S. Ten, 2010, Asian journal of andrology.

Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration

M. Polak, P. Philibert, C. Sultan, 2010, Reproductive biology and endocrinology : RB&E.

Undervirilization in XY newborns may hide a 5α-reductase deficiency: report of three new SRD5A2 gene mutations.

P. Philibert, C. Sultan, C. Pienkowski, 2010, International journal of andrology.

Phenotype, hormonal profile and genotype of subjects with partial androgen insensitivity syndrome: report of a family with four adult males and one child with disorder of sexual differentiation

P. Philibert, B. Kulshreshtha, A. Ammini, 2009, Andrologia.

Prenatal imaging of genital defects: clinical spectrum and predictive factors for severe forms

N. Kalfa, P. Philibert, C. Sultan, 2019, BJU international.

Endocrine and molecular investigations in a cohort of 25 adolescent males with prominent/persistent pubertal gynecomastia

P. Philibert, C. Sultan, Y. Morel, 2016, Andrology.

Is Serum Serotonin Involved in the Bone Loss of Young Females with Anorexia Nervosa?

P. Courtet, E. Renard, M. Picot, 2015, Hormone and Metabolic Research.

Role of sclerostin and dickkopf-1 in the dramatic alteration in bone mass acquisition in adolescents and young women with recent anorexia nervosa.

P. Courtet, E. Renard, J. Bringer, 2014, The Journal of clinical endocrinology and metabolism.

The IVS1- 2A>G mutation in the SRD5A2 gene predominates in Cypriot patients with 5α reductase deficiency

P. Philibert, C. Sultan, S. Lumbroso, 2010 .

Molecular diagnosis of 5alpha-reductase-2 gene mutation in two Indian families with male pseudohermaphroditism.

K. Kucheria, P. Philibert, C. Sultan, 2008, Asian journal of andrology.

Primary amenorrhea in four adolescents revealed 5α-reductase deficiency confirmed by molecular analysis.

P. Philibert, C. Sultan, G. Ocal, 2011, Fertility and sterility.

Molecular genetics of hypospadias and cryptorchidism recent developments

N. Kalfa, P. Philibert, C. Sultan, 2018, Clinical genetics.

Unusual Phenotypical Variations in a Boy with McCune-Albright Syndrome

P. Philibert, C. Sultan, S. Ten, 2010, Hormone Research in Paediatrics.

Family History is Underestimated in Children with Isolated Hypospadias: A French Multicenter Report of 88 Families

J. Valla, J. Daurès, N. Kalfa, 2018, Journal of Urology.

Searching for somatic mutations in McCune-Albright syndrome: a comparative study of the peptidic nucleic acid versus the nested PCR method based on 148 DNA samples.

N. Kalfa, P. Philibert, C. Sultan, 2006, European journal of endocrinology.

Salivary adiponectin levels are associated with training intensity but not with bone mass or reproductive function in elite Rhythmic Gymnasts

N. Roupas, N. Georgopoulos, P. Philibert, 2014, Peptides.

Directed evolution of single-chain Fv for cytoplasmic expression using the β-galactosidase complementation assay results in proteins highly susceptible to protease degradation and aggregation

P. Martineau, P. Philibert, Pierre Martineau, 2004, Microbial cell factories.

Molecular diagnosis of 5α-reductase deficiency in 4 elite young female athletes through hormonal screening for hyperandrogenism.

S. Bermon, P. Chevallier, P. Philibert, 2013, The Journal of clinical endocrinology and metabolism.

Hematopoietic-Prostaglandin D2 synthase through PGD2 production is involved in the adult ovarian physiology

P. Philibert, C. Sultan, B. Boizet-Bonhoure, 2011, Journal of ovarian research.

Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.

M. Dattani, N. Sebire, J. Jameson, 2007, The Journal of clinical endocrinology and metabolism.

Molecular events and signalling pathways of male germ cell differentiation in mouse.

P. Philibert, B. Boizet-Bonhoure, F. Poulat, 2015, Seminars in cell & developmental biology.

Androgen Insensitivity Syndrome

N. Kalfa, P. Philibert, C. Sultan, 2014 .

Testosterone secretion in elite adolescent swimmers does not modify bone mass acquisition: a 1-year follow-up study.

K. Briot, P. Philibert, C. Sultan, 2013, Fertility and sterility.

Mayer–Rokitansky–Kuster–Hauser syndrome: Recent clinical and genetic findings

P. Philibert, C. Sultan, A. Biason-Lauber, 2009, Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology.

Disorders of sex development: neonatal diagnosis and management.

N. Kalfa, P. Philibert, C. Sultan, 2012, Endocrine development.

Primary amenorrhea in a young Polish woman with complete androgen insensitivity syndrome and Sertoli–Leydig cell tumor: Identification of a new androgen receptor gene mutation and evidence of aromatase hyperactivity and apoptosis dysregulation within the tumor

P. Philibert, C. Sultan, B. Bilińska, 2007, Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology.

Isolated mild clitoral hypertrophy may reveal 46,XY disorders of sex development in infancy due to 17βHSD-3 defect confirmed by molecular analysis

P. Philibert, C. Sultan, S. Ten, 2011, Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology.

In cases of familial primary ovarian insufficiency and disorders of gonadal development, consider NR5A1/SF-1 sequence variants.

P. Philibert, D. Dewailly, Y. Morel, 2019, Reproductive biomedicine online.

NR5A1 (SF-1) gene variants in a group of 26 young women with XX primary ovarian insufficiency.

P. Philibert, C. Sultan, S. Christin‐Maitre, 2013, Fertility and sterility.

SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1‐mutated patient's management

P. Philibert, C. Sultan, C. Lefèvre, 2017, Clinical genetics.

Clinical, Biological and Genetic Analysis of Prepubertal Isolated Ovarian Cyst in 11 Girls

K. McElreavey, P. Philibert, C. Sultan, 2010, PloS one.

Expression and folding of an antibody fragment selected in vivo for high expression levels in Escherichia coli cytoplasm.

P. Martineau, P. Philibert, M. Pugnière, 2002, Research in microbiology.

Is Hypospadias Associated with Prenatal Exposure to Endocrine Disruptors? A French Collaborative Controlled Study of a Cohort of 300 Consecutive Children Without Genetic Defect.

J. Valla, J. Daurès, N. Kalfa, 2015, European urology.

Minor Hypospadias: The “Tip of the Iceberg” of the Partial Androgen Insensitivity Syndrome

J. Valla, J. Daurès, K. McElreavey, 2013, PloS one.

Hypospadias: Interactions between environment and genetics

L. Baskin, N. Kalfa, P. Philibert, 2011, Molecular and Cellular Endocrinology.

Unusual Virilization in Girls with Juvenile Granulosa Cell Tumors of the Ovary Is Related to Intratumoral Aromatase Deficiency

C. Patte, N. Kalfa, P. Philibert, 2010, Hormone Research in Paediatrics.

In cases of familial primary ovarian insufficiency and disorders of gonadal development, consider NR5A1/SF-1 sequence variants.

P. Philibert, D. Dewailly, Y. Morel, 2019, Reproductive biomedicine online.

Screening of MAMLD1 Mutations in 70 Children with 46,XY DSD: Identification and Functional Analysis of Two New Mutations

M. Polak, G. Pinto, J. Weill, 2012, PloS one.

Polymorphisms of MAMLD1 gene in hypospadias.

J. Valla, C. Béroud, T. Ogata, 2011, Journal of pediatric urology.

Molecular analysis of WNT4 gene in four adolescent girls with mullerian duct abnormality and hyperandrogenism (atypical Mayer-Rokitansky-Küster-Hauser syndrome).

P. Philibert, C. Sultan, C. Pienkowski, 2011, Fertility and sterility.

Using Digital Droplet Polymerase Chain Reaction to Detect the Mosaic GNAS Mutations in Whole Blood DNA or Circulating Cell‐Free DNA in Fibrous Dysplasia and McCune‐Albright Syndrome

A. Barlier, L. Ouafik, P. Philibert, 2019, The Journal of pediatrics.

Late surgical correction of hypospadias increases the risk of complications: a series of 501 consecutive patients

J. Daurès, N. Kalfa, P. Philibert, 2017, BJU international.

How Far Should We Explore Hypospadias? Next-generation Sequencing Applied to a Large Cohort of Hypospadiac Patients.

N. Kalfa, P. Philibert, C. Sultan, 2021, European urology.

Apparent Male Gender Identity in a Patient with Complete Androgen Insensitivity Syndrome

P. Philibert, C. Sultan, S. Khandelwal, 2009, Archives of sexual behavior.

Mother-to-Son Transmission of a Luteinizing Hormone Receptor Activating Mutation in a Prepubertal Child with Testotoxicosis

P. Philibert, C. Sultan, B. Kulshreshtha, 2009, Journal of pediatric endocrinology & metabolism : JPEM.

In peripubertal girls, artistic gymnastics improves areal bone mineral density and femoral bone geometry without affecting serum OPG/RANKL levels

K. Briot, P. Philibert, C. Sultan, 2011, Osteoporosis International.

Phenotypic variation of SF1 gene mutations.

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

Despite a high prevalence of menstrual disorders, bone health is improved at a weight-bearing bone site in world-class female rhythmic gymnasts.

N. Roupas, N. Georgopoulos, P. Philibert, 2013, The Journal of clinical endocrinology and metabolism.

Unilateral Cryptorchidism in Mice Mutant for Ptgds

Y. Urade, P. Philibert, C. Sultan, 2013, Human mutation.

Cocktails of NSAIDs and 17α Ethinylestradiol at Environmentally Relevant Doses in Drinking Water Alter Puberty Onset in Mice Intergenerationally

P. Philibert, S. Déjardin, Annerys González, 2023, International journal of molecular sciences.

In utero exposure to acetaminophen and ibuprofen leads to intergenerational accelerated reproductive aging in female mice

C. Brun, P. Philibert, S. Déjardin, 2019, Communications Biology.

Intergenerational effects on mouse sperm quality after in utero exposure to acetaminophen and ibuprofen

P. Philibert, T. Sutra, A. Pruvost, 2018, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Specific bone mass acquisition in elite female athletes.

P. Philibert, C. Sultan, F. Galtier, 2013, The Journal of clinical endocrinology and metabolism.

Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2

B. Benayoun, R. Veitia, M. Fellous, 2009, Journal of Medical Genetics.

The IVS1-2A>G mutation in the SRD5A2 gene predominates in Cypriot patients with 5α reductase deficiency.

P. Philibert, C. Sultan, S. Lumbroso, 2010, Journal of endocrinological investigation.

'Idiopathic' partial androgen insensitivity syndrome in 28 newborn and infant males: impact of prenatal exposure to environmental endocrine disruptor chemicals?

N. Kalfa, P. Philibert, C. Sultan, 2011, European journal of endocrinology.

Modification of bone mineral density, bone geometry and volumetric BMD in young women with obesity.

E. Renard, L. Humbert, S. Guillaume, 2021, Bone.

Effects of the two types of anorexia nervosa (binge eating/purging and restrictive) on bone metabolism in female patients

P. Courtet, E. Renard, M. Picot, 2018, Clinical endocrinology.

Evidence of a link between resting energy expenditure and bone remodelling, glucose homeostasis and adipokine variations in adolescent girls with anorexia nervosa

P. Courtet, E. Renard, J. Bringer, 2015, Osteoporosis International.

Oral contraceptives partially protect from bone loss in young women with anorexia nervosa.

P. Courtet, E. Renard, M. Picot, 2019, Fertility and sterility.

Peripubertal female athletes in high-impact sports show improved bone mass acquisition and bone geometry.

K. Briot, P. Philibert, C. Sultan, 2013, Metabolism: clinical and experimental.

Specific effects of anorexia nervosa and obesity on bone mineral density and bone turnover in young women.

P. Courtet, E. Renard, S. Guillaume, 2019, The Journal of clinical endocrinology and metabolism.

Femtosecond spectroscopy probes the folding quality of antibody fragments expressed as GFP fusions in the cytoplasm.

J. Bigot, P. Martineau, E. Weiss, 2008, Biochemical and biophysical research communications.

A novel mutation c.118delA in exon 1 of the androgen receptor gene resulting in complete androgen insensitivity syndrome within a large family.

J. Kaufman, K. Decaestecker, P. Philibert, 2008, Fertility and sterility.

Very premature pubarche in girls is not a pubertal variant

N. Kalfa, P. Philibert, C. Sultan, 2012, Hormones.