List of works - Frederic Brioude

11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome.

scientific article published on 26 October 2016

Beckwith-Wiedemann syndrome: growth pattern and tumor risk according to molecular mechanism, and guidelines for tumor surveillance

scientific article published on 4 December 2013

CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome.

scientific article

CDKN1C mutations: two sides of the same coin.

scientific article published on 25 September 2014

CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays.

scientific article

CUGC for Simpson-Golabi-Behmel syndrome (SGBS)

scientific article published on 25 January 2019

Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences

scientific article

Chromosome 14q32.2 imprinted region disruption as an alternative molecular diagnosis of Silver-Russell Syndrome.

scientific article published on 11 April 2018

Comment on: Juvenile granulosa cell ovarian tumor in a child with Beckwith-Wiedemann syndrome

scientific article published on 11 January 2017

Complex tissue-specific epigenotypes in Russell-Silver Syndrome associated with 11p15 ICR1 hypomethylation

scientific article published on 22 August 2014

Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients.

scientific article published on 7 November 2016

Diagnosis and management of Silver-Russell syndrome: first international consensus statement

scientific article

Diagnosis and management of postnatal fetal growth restriction

scientific article published on 05 April 2018

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.

scientific article published on 11 May 2016

Epigenetics, genomic imprinting and developmental disorders

scientific article published on February 1, 2010

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement

scientific article

Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome

article published in 2014

Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction

scientific article

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

scientific article

Human imprinting anomalies in fetal and childhood growth disorders: clinical implications and molecular mechanisms

scientific article published on January 2014

Hypercortisolism due to a Pituitary Adenoma Associated with Beckwith-Wiedemann Syndrome

scientific article published on 3 June 2016

Imprinted anomalies in fetal and childhood growth disorders: the model of Russell-Silver and Beckwith-Wiedemann syndromes

scientific article

Imprinted disorders and growth

scientific article published on 4 May 2017

Is Nephron Sparing Surgery Justified in Wilms Tumor With Beckwith-Wiedemann Syndrome or Isolated Hemihypertrophy?

scientific article

Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.

scientific article published on 10 April 2018

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

scientific article

New clinical and molecular insights into Silver-Russell syndrome.

scientific article

Nomenclature and definition in asymmetric regional body overgrowth.

scientific article published on 5 May 2017

Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype-phenotype relationships

scientific article published on 05 March 2010

Overgrowth syndromes - clinical and molecular aspects and tumour risk

scientific article published on 01 May 2019

Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.

scientific article published on 28 October 2015

Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply.

scientific article published on 15 February 2018

SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development

scientific article

SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy

scientific article published on 24 July 2013

Sleep disordered breathing in patients with Prader-Willi syndrome: A multicenter study.

scientific article published on 7 April 2015

Study of the Factors Leading to Fetal and Neonatal Dysthyroidism in Children of Patients With Graves Disease. ⬇️

scientific article published on 25 April 2017

Transcriptional profiling at the domain explains clinical overlap between imprinting disorders

scientific article published on 20 February 2019

Two families with normosmic congenital hypogonadotropic hypogonadism and biallelic mutations in KISS1R (KISS1 receptor): clinical evaluation and molecular characterization of a novel mutation

scientific article

[Hypogonadotropic hypogonadism: new aspects in the regulation of hypothalamic-pituitary-gonadal axis]

scientific article published on 01 September 2010

[Is there a relationship between the growth hormone dose and tumoral or cardiovascular complications?]

scientific article published on 01 January 2012

List of works by Frederic Brioude

11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome.

Beckwith-Wiedemann syndrome: growth pattern and tumor risk according to molecular mechanism, and guidelines for tumor surveillance

CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome.

CDKN1C mutations: two sides of the same coin.

CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays.

CUGC for Simpson-Golabi-Behmel syndrome (SGBS)

Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences

Chromosome 14q32.2 imprinted region disruption as an alternative molecular diagnosis of Silver-Russell Syndrome.

Comment on: Juvenile granulosa cell ovarian tumor in a child with Beckwith-Wiedemann syndrome

Complex tissue-specific epigenotypes in Russell-Silver Syndrome associated with 11p15 ICR1 hypomethylation

Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients.

Diagnosis and management of Silver-Russell syndrome: first international consensus statement

Diagnosis and management of postnatal fetal growth restriction

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.

Epigenetics, genomic imprinting and developmental disorders

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement

Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome

Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction

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

Human imprinting anomalies in fetal and childhood growth disorders: clinical implications and molecular mechanisms

Hypercortisolism due to a Pituitary Adenoma Associated with Beckwith-Wiedemann Syndrome

Imprinted anomalies in fetal and childhood growth disorders: the model of Russell-Silver and Beckwith-Wiedemann syndromes

Imprinted disorders and growth

Is Nephron Sparing Surgery Justified in Wilms Tumor With Beckwith-Wiedemann Syndrome or Isolated Hemihypertrophy?

Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

New clinical and molecular insights into Silver-Russell syndrome.

Nomenclature and definition in asymmetric regional body overgrowth.

Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype-phenotype relationships

Overgrowth syndromes - clinical and molecular aspects and tumour risk

Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.

Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply.

SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development

SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy

Sleep disordered breathing in patients with Prader-Willi syndrome: A multicenter study.

Study of the Factors Leading to Fetal and Neonatal Dysthyroidism in Children of Patients With Graves Disease. ⬇️

Transcriptional profiling at the domain explains clinical overlap between imprinting disorders

Two families with normosmic congenital hypogonadotropic hypogonadism and biallelic mutations in KISS1R (KISS1 receptor): clinical evaluation and molecular characterization of a novel mutation

[Hypogonadotropic hypogonadism: new aspects in the regulation of hypothalamic-pituitary-gonadal axis]

[Is there a relationship between the growth hormone dose and tumoral or cardiovascular complications?]