F. Brioude

发表

Increasing knowledge in IGF1R defects: lessons from 35 new patients

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

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

A. Toutain, E. Colin, S. Nampoothiri, 2018, Human mutation.

Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome

A. Afenjar, N. Philip, J. Thevenon, 2018, The Journal of clinical endocrinology and metabolism.

IGF2: Development, Genetic and Epigenetic Abnormalities

I. Netchine, M. Sobrier, É. Giabicani, 2022, Cells.

Roles of Type 1 Insulin-Like Growth Factor (IGF) Receptor and IGF-II in Growth Regulation: Evidence From a Patient Carrying Both an 11p Paternal Duplication and 15q Deletion

S. Chantot-Bastaraud, I. Netchine, S. Whalen, 2019, Front. Endocrinol..

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

T. Yuen, Y. Le Bouc, F. Tixier, 2017, Genetics in Medicine.

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

S. Chantot-Bastaraud, I. Netchine, S. Azzi, 2017, Human mutation.

New clinical and molecular insights into Silver–Russell syndrome

I. Netchine, É. Giabicani, F. Brioude, 2016, Current opinion in pediatrics.

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.

L. Pasquier, S. Lyonnet, C. Gicquel, 2014, Human molecular genetics.

Complex Tissue‐Specific Epigenotypes in Russell–Silver Syndrome Associated with 11p15 ICR1 Hypomethylation

I. Netchine, S. Rossignol, S. Azzi, 2014, Human mutation.

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

A. Faussat, I. Netchine, S. Rossignol, 2013, Journal of Medical Genetics.

Russell Silver syndrome PCNA-binding domain as a cause of familial mutation affecting the CDKN 1 C

A. Faussat, I. Netchine, S. Rossignol, 2013 .

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

Y. Le Bouc, I. Netchine, S. Rossignol, 2012, Endocrine development.

CDKN1C mutations: two sides of the same coin.

P. Lapunzina, T. Eggermann, G. Binder, 2014, Trends in molecular medicine.

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

C. Depienne, A. Brice, Y. Le Bouc, 2013, European journal of medical genetics.

Beckwith-Wiedemann Syndrome: Growth Pattern and Tumor Risk according to Molecular Mechanism, and Guidelines for Tumor Surveillance

M. Vazquez, C. Gicquel, Y. Le Bouc, 2013, Hormone Research in Paediatrics.

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

P. Chanson, Jacques Young, S. Brailly‐Tabard, 2010, European journal of endocrinology.

Diagnosis and management of Silver-Russell syndrome

Dias, M. Maghnie, Z. Tümer, 2018 .

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

M. Lombès, C. Bouvattier, F. Brioude, 2010, Annales d'endocrinologie.

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

R. Weksberg, Z. Tümer, P. Lapunzina, 2015, European Journal of Human Genetics.

Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes

T. Eggermann, C. Izzi, A. Selicorni, 2019, Genetics research.

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

P. Touraine, Y. Le Bouc, I. Netchine, 2016, Hormone Research in Paediatrics.

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders

Z. Tümer, P. Lapunzina, T. Ogata, 2022, Clinical Epigenetics.

Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome

Mackay, Z. Tümer, P. Lapunzina, 2018 .

Maintenance of methylation profile in imprinting control regions in human induced pluripotent stem cells

V. Fontaine, D. Mitanchez, I. Netchine, 2022, Clinical Epigenetics.

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

M. Maghnie, Z. Tümer, T. Eggermann, 2017, Nature Reviews Endocrinology.

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

Jacques Young, A. Briand-Suleau, L. Tosca, 2012, Human reproduction.

Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations

P. Chanson, M. Polak, S. Lyonnet, 2019, Human mutation.

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

R. Hennekam, Z. Tümer, M. Kilby, 2018, Nature Reviews Endocrinology.

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

T. Eggermann, L. Graul-Neumann, S. Chantot-Bastaraud, 2017, Molecular Cytogenetics.

Human Fetal Growth Disorders and Imprinting Anomalies

C. Gicquel, I. Netchine, S. Rossignol, 2014 .

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

M. Polak, A. Verloes, D. Lacombe, 2015, Human mutation.

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

R. Weksberg, Z. Tümer, P. Lapunzina, 2016, European Journal of Human Genetics.

Placental Pathology in Beckwith–Wiedemann Syndrome According to Genotype/Epigenotype Subgroups

C. Bénéteau, F. Le Breton, F. Allias, 2018, Fetal and pediatric pathology.

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

Y. Le Bouc, S. Chantot-Bastaraud, J. Siffroi, 2017, Journal of Medical Genetics.

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

I. Netchine, F. Brioude, 2017, Pediatric blood & cancer.

Nomenclature and definition in asymmetric regional body overgrowth

T. Druley, R. Hennekam, L. Biesecker, 2017, American journal of medical genetics. Part A.

Overgrowth syndromes — clinical and molecular aspects and tumour risk

A. Toutain, V. Cormier-Daire, I. Netchine, 2019, Nature Reviews Endocrinology.

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

R. Hennekam, T. Eggermann, C. Kratz, 2018, European Journal of Human Genetics.

Corpus Callosum Abnormalities and Short Femurs in Beckwith–Wiedemann Syndrome: A Report of Two Fetal Cases

A. Gelot, M. Vekemans, T. Attié-Bitach, 2018, Fetal and pediatric pathology.

Imprinted disorders and growth.

Y. Le Bouc, I. Netchine, É. Giabicani, 2017, Annales d'endocrinologie.

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

C. Bergeron, G. Schleiermacher, C. Pasqualini, 2016, Pediatric blood & cancer.

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

Y. Ville, D. Luton, M. Polak, 2017, Journal of the Endocrine Society.

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

J. Melki, S. Julia, P. Jouk, 2018, European Journal of Human Genetics.

Transcriptional profiling at the DLK1/MEG3 domain explains clinical overlap between imprinting disorders

Y. Le Bouc, I. Netchine, S. Rossignol, 2019, Science Advances.

Screening of patients born small for gestational age with the Silver-Russell syndrome phenotype for DLK1 variants

D. Mitanchez, I. Netchine, M. Sobrier, 2021, European Journal of Human Genetics.

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

D. Larizza, M. Maghnie, M. Polak, 2016, The Journal of clinical endocrinology and metabolism.

Rathke Cleft Cysts and Endocrine Dysfunction in Children

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

Diagnosis and management of postnatal fetal growth restriction.

D. Mitanchez, I. Netchine, É. Giabicani, 2018, Best practice & research. Clinical endocrinology & metabolism.

Two Families with Normosmic Congenital Hypogonadotropic Hypogonadism and Biallelic Mutations in KISS1R (KISS1 Receptor): Clinical Evaluation and Molecular Characterization of a Novel Mutation

Jacques Young, R. Roussel, M. Lombès, 2013, PloS one.

Contents Vol. 80, 2013

P. Czernichow, G. Rappold, H. Wallaschofski, 2014, Hormone Research in Paediatrics.

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

A. Crinò, B. Fauroux, M. Colella, 2015, Pediatric pulmonology.

Fertility preservation in young men with Klinefelter syndrome: a systematic review.

I. Berthaut, L. Khattabi, A. Ly, 2021, Journal of Gynecology Obstetrics and Human Reproduction.

Sleep disordered breathing in Silver-Russell syndrome patients: a new outcome.

I. Netchine, G. Aubertin, M. Boulé, 2019, Sleep medicine.

Low Maternal DLK1 Levels at 26 Weeks Is Associated With Small for Gestational Age at Birth

B. Heude, Y. Le Bouc, L. Périn, 2022, Frontiers in Endocrinology.

CUGC for Simpson-Golabi-Behmel syndrome (SGBS)

A. Toutain, A. Rauch, A. Baumer, 2019, European Journal of Human Genetics.

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