List of works - Pascal Philibert

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

scientific article published on 25 July 2011

A focused antibody library for selecting scFvs expressed at high levels in the cytoplasm

scientific article

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

scientific article (publication date: May 2008)

Apparent male gender identity in a patient with complete androgen insensitivity syndrome.

scientific article

Clinical, biological and genetic analysis of prepubertal isolated ovarian cyst in 11 girls

scientific article published in 2010

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.

scientific article

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

scientific article published on 8 October 2013

Development of new quantitative mass spectrometry and semi-automatic isofocusing methods for the determination of Apolipoprotein E typing.

scientific article published on 18 December 2015

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

scientific article

Disorders of sex development: neonatal diagnosis and management.

scientific article published on 25 July 2012

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

scientific article published on 25 April 2018

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

scientific article published on 4 February 2016

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

scientific article

Extinction of FOXL2 expression in aggressive ovarian granulosa cell tumors in children.

scientific article published in April 2007

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

scientific article published on 30 April 2018

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

scientific article published on 5 December 2007

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

scientific article published on 7 May 2009

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

scientific article

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

scientific article published on 2 January 2007

Hypospadias: interactions between environment and genetics.

scientific article published on 21 January 2011

Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and müllerian duct abnormalities: a French collaborative study

scientific article

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

scientific article published on 10 October 2019

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

scientific article published on 26 February 2011

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

scientific article published on 13 August 2019

Increased serum estrogenic bioactivity in girls with premature thelarche: a marker of environmental pollutant exposure?

scientific article published on 14 June 2013

Inguinal hernia in a phenotypic female infant may reveal a 46XY sex reversal, supported by the identification of a novel SF1 gene mutation

scientific article published in January 2011

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

scientific article published on 06 July 2018

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

scientific article

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

scientific article

Isolated 'idiopathic' micropenis: hidden genetic defects?

scientific article published on 28 April 2011

Isolated Cushing's syndrome: an unusual presentation of McCune-Albright syndrome in the neonatal period.

scientific article published on 19 October 2009

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

scientific article published on 10 January 2011

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

scientific article published on 13 January 2017

Mayer-Rokitansky-Kuster-Hauser syndrome: recent clinical and genetic findings

scientific article

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

scientific article published on 5 March 2011

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

scientific article

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

scientific article published on 30 April 2013

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

scientific article published on 07 October 2015

Molecular genetics of hypospadias and cryptorchidism recent developments

scientific article published on 26 October 2018

Mother-to-son transmission of a luteinizing hormone receptor activating mutation in a prepubertal child with testotoxicosis.

scientific article published in March 2009

Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study

scientific article

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

scientific article published on 13 November 2012

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

scientific article published on 25 March 2019

Periostin and sclerostin levels in individuals with spinal cord injury and their relationship with bone mass, bone turnover, fracture and osteoporosis status

scientific article published on 24 July 2019

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

scientific article published on 11 March 2013

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.

scientific article published in August 2009

Phenotypic variation of SF1 gene mutations

scientific article published on 01 January 2011

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

scientific article published on 8 December 2010

Polymorphisms of MAMLD1 gene in hypospadias

article

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.

scientific article

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

scientific article published on 18 March 2019

Primary amenorrhea in a 46,XY adolescent girl with partial gonadal dysgenesis: identification of a new SRY gene mutation

scientific article published on 10 May 2007

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 withi

scientific article published in September 2007

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

scientific article published on 20 September 2010

Role of Sclerostin and Dickkopf-1 in the Dramatic Alteration in Bone Mass Acquisition in Adolescents and Young Women With Recent Anorexia Nervosa

scholarly article by Laurent Maïmoun et al published April 2014 in The Journal of Clinical Endocrinology and Metabolism

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

scientific article published on 29 December 2016

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

scientific article published on 15 November 2013

Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new mutations

scientific article

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

scientific article published on December 2006

Specific bone mass acquisition in elite female athletes.

scientific article

Stability of routine biochemical analytes in whole blood and plasma/serum: focus on potassium stability from lithium heparin

scientific article published on 9 September 2017

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

scientific article published on 16 October 2012

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

scientific article published on 28 May 2010

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

scientific article published in December 2010

Unilateral cryptorchidism in mice mutant for Ptgds

scientific article

Unusual phenotypical variations in a boy with McCune-Albright syndrome

scientific article published on 3 March 2010

Unusual virilization in girls with juvenile granulosa cell tumors of the ovary is related to intratumoral aromatase deficiency.

scientific article published on 15 April 2010

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

scientific article published on 13 November 2018

Very premature pubarche in girls is not a pubertal variant

scientific article published on 01 July 2012

[Hypospadias and genetics]

scientific article published on 01 June 2009

[Juvenile granulosa-cell tumor: clinical and molecular expression]

scientific article published on 31 December 2008

List of works by Pascal Philibert

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

A focused antibody library for selecting scFvs expressed at high levels in the cytoplasm

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

Apparent male gender identity in a patient with complete androgen insensitivity syndrome.

Clinical, biological and genetic analysis of prepubertal isolated ovarian cyst in 11 girls

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.

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

Development of new quantitative mass spectrometry and semi-automatic isofocusing methods for the determination of Apolipoprotein E typing.

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

Disorders of sex development: neonatal diagnosis and management.

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

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

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

Extinction of FOXL2 expression in aggressive ovarian granulosa cell tumors in children.

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

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

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

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

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

Hypospadias: interactions between environment and genetics.

Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and müllerian duct abnormalities: a French collaborative study

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

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

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

Increased serum estrogenic bioactivity in girls with premature thelarche: a marker of environmental pollutant exposure?

Inguinal hernia in a phenotypic female infant may reveal a 46XY sex reversal, supported by the identification of a novel SF1 gene mutation

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

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

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

Isolated 'idiopathic' micropenis: hidden genetic defects?

Isolated Cushing's syndrome: an unusual presentation of McCune-Albright syndrome in the neonatal period.

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

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

Mayer-Rokitansky-Kuster-Hauser syndrome: recent clinical and genetic findings

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

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

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

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

Molecular genetics of hypospadias and cryptorchidism recent developments

Mother-to-son transmission of a luteinizing hormone receptor activating mutation in a prepubertal child with testotoxicosis.

Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study

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

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

Periostin and sclerostin levels in individuals with spinal cord injury and their relationship with bone mass, bone turnover, fracture and osteoporosis status

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

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.

Phenotypic variation of SF1 gene mutations

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

Polymorphisms of MAMLD1 gene in hypospadias

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.

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

Primary amenorrhea in a 46,XY adolescent girl with partial gonadal dysgenesis: identification of a new SRY gene mutation

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 withi

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

Role of Sclerostin and Dickkopf-1 in the Dramatic Alteration in Bone Mass Acquisition in Adolescents and Young Women With Recent Anorexia Nervosa

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

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

Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new mutations

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

Specific bone mass acquisition in elite female athletes.

Stability of routine biochemical analytes in whole blood and plasma/serum: focus on potassium stability from lithium heparin

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

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

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

Unilateral cryptorchidism in mice mutant for Ptgds

Unusual phenotypical variations in a boy with McCune-Albright syndrome

Unusual virilization in girls with juvenile granulosa cell tumors of the ovary is related to intratumoral aromatase deficiency.

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

Very premature pubarche in girls is not a pubertal variant

[Hypospadias and genetics]

[Juvenile granulosa-cell tumor: clinical and molecular expression]