Irène Netchine Selected Research

Beckwith-Wiedemann Syndrome (Exomphalos Macroglossia Gigantism Syndrome)

10/2022	IGF2: Development, Genetic and Epigenetic Abnormalities.
1/2019	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.
10/2016	EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.
8/2013	Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with GNAS epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1b.
1/2012	Imprinted anomalies in fetal and childhood growth disorders: the model of Russell-Silver and Beckwith-Wiedemann syndromes.
2/2011	Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromes.

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Irène Netchine Research Topics

Disease

6	Beckwith-Wiedemann Syndrome (Exomphalos Macroglossia Gigantism Syndrome) 10/2022 - 02/2011
5	Silver-Russell Syndrome 01/2022 - 06/2015
3	Congenital Adrenal Hyperplasia (Hyperplasia, Congenital Adrenal) 06/2022 - 03/2018
3	Imprinting Disorders 10/2016 - 08/2013
1	Turner Syndrome (Turner's Syndrome) 12/2022
1	Neoplasms (Cancer) 10/2022
1	Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 01/2022
1	Precocious Puberty 01/2021
1	And Genital Anomalies Adrenal Hypoplasia Congenita Metaphyseal Dysplasia Intrauterine Growth Retardation 12/2018
1	Adrenal hyperplasia 2 03/2018
1	Wasting Syndrome (Wasting Disease) 03/2018
1	Simpson-Golabi-Behmel syndrome 01/2018
1	Fetal Growth Retardation (Intrauterine Growth Retardation) 01/2018
1	Macroglossia 04/2015
1	Gastroesophageal Reflux (GERD) 04/2015
1	Pseudohypoparathyroidism 04/2015
1	Vomiting 04/2015
1	Constipation 04/2015
1	Growth Disorders 01/2012
1	Chronic Disease (Chronic Diseases) 08/2011
1	Microcephaly 02/2011
1	Deafness (Deaf Mutism) 02/2011
1	Coloboma (Colobomas) 05/2005

Drug/Important Bio-Agent (IBA)

6	SilverIBA 10/2022 - 02/2011
3	Growth Hormone (Somatotropin)IBA 01/2022 - 04/2015
2	Insulin-Like Growth Factor I (IGF-1)IBA 08/2011 - 02/2011
1	Insulin-Like Growth Factor II (Somatomedin A)IBA 10/2022
1	Adrenal Cortex Hormones (Corticosteroids)IBA 06/2022
1	Adrenocorticotropic Hormone (ACTH)FDA Link 01/2022
1	SteroidsIBA 01/2022
1	6-chloro-2-(1-piperazinyl)pyrazine (CPP)IBA 01/2021
1	Insulin-Like PeptidesIBA 01/2019
1	DNA Polymerase IIIBA 12/2018
1	SaltsIBA 03/2018
1	3-Hydroxysteroid Dehydrogenases (3 beta Hydroxysteroid Dehydrogenase)IBA 03/2018
1	3 beta-hydroxysteroid dehydrogenase type IIIBA 03/2018
1	EnzymesIBA 03/2018
1	SRS-AIBA 01/2018
1	Cyproheptadine (Periactin)FDA Link 01/2018
1	GlypicansIBA 01/2018
1	DNA (Deoxyribonucleic Acid)IBA 06/2015
1	Parathyroid Hormone (Parathormone)IBA 04/2015
1	Thyroxine (Levothyroxine)FDA LinkGeneric 04/2015
1	Retinaldehyde (Retinal)IBA 05/2005

Therapy/Procedure

2	Therapeutics 01/2018 - 04/2015
1	CARE protocol 12/2022
1	Bariatric Surgery 01/2017