Nature Search

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

Silver–Russell syndrome (SRS) is an imprinting disorder that causes prenatal and postnatal growth retardation. This Consensus Statement summarizes recommendations for clinical diagnosis, investigation and management of patients with SRS, including the use of growth hormone and gonadotropin-releasing hormone analogues.

Emma L. Wakeling
Frédéric Brioude
Irène Netchine
ReviewsOpen Access02 Sept 2016
Nature Reviews Endocrinology

Volume: 13, P: 105-124
Screening of patients born small for gestational age with the Silver-Russell syndrome phenotype for DLK1 variants

Aurélie Pham
Marie-Laure Sobrier
Irène Netchine
Research19 Jul 2021
European Journal of Human Genetics

Volume: 29, P: 1756-1761
Genetic disruption of the oncogenic HMGA2–PLAG1–IGF2 pathway causes fetal growth restriction

Walid Abi Habib
Frédéric Brioude
Irène Netchine
ResearchOpen Access10 Aug 2017
Genetics in Medicine

Volume: 20, P: 250-258
Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency

Irène Netchine
Marie-Laure Sobrier
Serge Amselem
Research01 Jun 2000
Nature Genetics

Volume: 25, P: 182-186
Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome

Christine Gicquel
Sylvie Rossignol
Yves Le Bouc
Research07 Aug 2005
Nature Genetics

Volume: 37, P: 1003-1007
Dental pulp stem cells as a promising model to study imprinting diseases

Eloïse Giabicani
Aurélie Pham
Irène Netchine
ResearchOpen Access02 Apr 2022
International Journal of Oral Science

Volume: 14, P: 1-8
Clinical utility gene card for: Beckwith–Wiedemann Syndrome

Thomas Eggermann
Elizabeth Algar
Rosanna Weksberg
Research03 Jul 2013
European Journal of Human Genetics

Volume: 22, P: 435
Overgrowth syndromes — clinical and molecular aspects and tumour risk

Overgrowth syndromes are a heterogeneous group of rare disorders characterized by generalized or segmental excessive growth. This Review discusses the clinical and molecular diagnosis, tumour risk and recommendations for tumour screening for the most prevalent generalized and segmental overgrowth syndromes.

Frédéric Brioude
Annick Toutain
Irene Netchine
Reviews06 Mar 2019
Nature Reviews Endocrinology

Volume: 15, P: 299-311
Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement

Beckwith–Wiedemann syndrome is an overgrowth disorder characterized by variable clinical phenotypes and a complex molecular aetiology. This Consensus Statement summarizes recommendations for clinical indications, molecular diagnosis and management of the newly defined Beckwith–Wiedemann spectrum.

Frédéric Brioude
Jennifer M. Kalish
Eamonn R. Maher
ReviewsOpen Access29 Jan 2018
Nature Reviews Endocrinology

Volume: 14, P: 229-249
Revisiting Wilms tumour surveillance in Beckwith–Wiedemann syndrome with IC2 methylation loss, reply

Frédéric Brioude
Raoul Hennekam
Irene Netchine
Correspondence15 Feb 2018
European Journal of Human Genetics

Volume: 26, P: 471-472
EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome

Katja Eggermann
Jet Bliek
Thomas Eggermann
ReviewsOpen Access11 May 2016
European Journal of Human Genetics

Volume: 24, P: 1377-1387
Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling

Thomas Eggermann
Frédéric Brioude
Pablo Lapunzina
Reviews28 Oct 2015
European Journal of Human Genetics

Volume: 24, P: 784-793

Search

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

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

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

Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency

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

Dental pulp stem cells as a promising model to study imprinting diseases

Clinical utility gene card for: Beckwith–Wiedemann Syndrome

Overgrowth syndromes — clinical and molecular aspects and tumour risk

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

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

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

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

Search

Quick links

Search

Filter By:

Search

Quick links