Irene Netchine

Irene Netchine

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Irene Netchine

Irene Netchine

Publications by authors named "Irene Netchine"

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

Sleep Med 2019 Dec 15;64:23-29. Epub 2019 Jun 15.

Sorbonne Université, INSERM, UMR_S 938 Centre de Recherche Saint Antoine, APHP, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Paris, France.

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http://dx.doi.org/10.1016/j.sleep.2019.05.020DOI Listing
December 2019

Intellectual functioning in Silver-Russell syndrome: First study in adults.

Appl Neuropsychol Adult 2019 Aug 8:1-12. Epub 2019 Aug 8.

b Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, CHU de Rennes , Rennes , France.

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http://dx.doi.org/10.1080/23279095.2019.1644643DOI Listing
August 2019

Overgrowth syndromes - clinical and molecular aspects and tumour risk.

Nat Rev Endocrinol 2019 05;15(5):299-311

Sorbonne Université, INSERM UMR_S938, Centre de Recherche Saint Antoine, AP-HP Hôpital Trousseau, Paris, France.

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http://www.nature.com/articles/s41574-019-0180-z
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http://dx.doi.org/10.1038/s41574-019-0180-zDOI Listing
May 2019

Normal Growth despite Combined Pituitary Hormone Deficiency.

Horm Res Paediatr 2019 25;92(2):133-142. Epub 2019 Apr 25.

Explorations Fonctionnelles et génétique endocriniennes, Hôpital Armand-Trousseau, AP-HP, Paris, France,

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https://www.karger.com/Article/FullText/499318
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http://dx.doi.org/10.1159/000499318DOI Listing
April 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.

Front Endocrinol (Lausanne) 2019 30;10:263. Epub 2019 Apr 30.

Sorbonne Université, INSERM, Centre de Recherche Saint Antoine, APHP, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Paris, France.

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https://www.frontiersin.org/article/10.3389/fendo.2019.00263
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http://dx.doi.org/10.3389/fendo.2019.00263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503735PMC
April 2019

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

Fetal Pediatr Pathol 2018 Dec 31;37(6):411-417. Epub 2018 Dec 31.

a Unité d'Embryofœtopathologie, Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, APHP , Paris , France.

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http://dx.doi.org/10.1080/15513815.2018.1520942DOI Listing
December 2018

Methylome profiling of healthy and central precocious puberty girls.

Clin Epigenetics 2018 11 22;10(1):146. Epub 2018 Nov 22.

Division of Endocrinology & Metabolism, Development Endocrinology Unit, Laboratory of Hormones and Molecular Genetics/LIM42, Clinical Hospital, Sao Paulo Medical School, University of Sao Paulo, Sao Paulo, SP, Brazil.

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http://dx.doi.org/10.1186/s13148-018-0581-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6251202PMC
November 2018

Diagnosis and management of postnatal fetal growth restriction.

Best Pract Res Clin Endocrinol Metab 2018 08 5;32(4):523-534. Epub 2018 Apr 5.

Sorbonne Université, INSERM, UMR_S 938 Centre de Recherche Saint Antoine, APHP, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, F-75012, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S1521690X183006
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http://dx.doi.org/10.1016/j.beem.2018.03.013DOI Listing
August 2018

Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit.

Endocr Connect 2018 Mar 2;7(3):395-402. Epub 2018 Feb 2.

Service d'Endocrinologie et Médecine de la ReproductionCentre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Saint Antoine, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France.

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http://dx.doi.org/10.1530/EC-17-0306DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5827574PMC
March 2018

Effect of Cyproheptadine on Weight and Growth Velocity in Children With Silver-Russell Syndrome.

J Pediatr Gastroenterol Nutr 2018 02;66(2):306-311

Pediatric Nutrition and Gastroenterology Department, APHP, Armand Trousseau Hospital, Paris, France.

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http://dx.doi.org/10.1097/MPG.0000000000001708DOI Listing
February 2018

The Importance of Collaboration in Advancing Understanding of Rare Disorders: US/EU Joint Initiative on Silver-Russell Syndrome.

Pediatr Endocrinol Rev 2017 Nov;15(Suppl 1):98-101

Icahn School of Medicine at Mount Sinai, Department of Pediatrics, 1 Gustave L. Levy Pl, New York, New York 10029, USA.

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http://dx.doi.org/10.17458/per.vol15.2017.snh.importancecollaborationadvancingDOI Listing
November 2017

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

Pediatr Blood Cancer 2017 08 11;64(8). Epub 2017 Jan 11.

AP-HP, Hôpitaux Universitaires Paris Est (AP-HP) Hôpital des Enfants Armand Trousseau, Service d'Explorations Fonctionnelles Endocriniennes, 75012, Paris, France.

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http://dx.doi.org/10.1002/pbc.26452DOI Listing
August 2017

Metabolic signatures in an adolescent with Silver-Russell syndrome and outcomes after bariatric surgery.

Surg Obes Relat Dis 2017 07 2;13(7):1248-1250. Epub 2017 Feb 2.

Institute of Cardiometabolism and Nutrition, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Paris 13, Paris, France; Sorbonne Universités, University Paris 06, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.soard.2017.01.044DOI Listing
July 2017

Imprinted disorders and growth.

Ann Endocrinol (Paris) 2017 Jun 4;78(2):112-113. Epub 2017 May 4.

AP-HP, hôpital Armand-Trousseau, explorations fonctionnelles endocriniennes, Inserm, UMR_S 938, centre de recherche Saint-Antoine, Sorbonne Universities, UPMC université Paris 06, 26, avenue du Docteur-Arnold-Netter, 75012 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ando.2017.04.010DOI Listing
June 2017

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

Horm Res Paediatr 2016 3;86(3):206-211. Epub 2016 Jun 3.

UPMC Univ Paris 06, Sorbonne Universités, Paris, France.

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http://dx.doi.org/10.1159/000446435DOI Listing
April 2017

New clinical and molecular insights into Silver-Russell syndrome.

Curr Opin Pediatr 2016 08;28(4):529-35

aAP-HP, Hôpital Armand Trousseau, Explorations Fonctionnelles EndocriniennesbCentre de Recherche Saint Antoine, INSERM UMR_S938cSorbonne Universities, UPMC UNIV PARIS 06, Paris, France.

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http://dx.doi.org/10.1097/MOP.0000000000000379DOI Listing
August 2016

Erratum to: Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci.

Clin Epigenetics 2016 7;8:27. Epub 2016 Mar 7.

Endocrinology and diabetology for children and reference center for rare disorders of calcium and phosphorus metabolism, Bicêtre Paris Sud, APHP, Le Kremlin-Bicêtre, France ; INSERM U986, INSERM, Le Kremlin-Bicêtre, France ; INSERM, UMR_S 938, CDR Saint-Antoine, Paris, F-75012 France.

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http://dx.doi.org/10.1186/s13148-016-0194-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4782320PMC
March 2016

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci.

Clin Epigenetics 2015 14;7:123. Epub 2015 Nov 14.

Endocrinology and diabetology for children and reference center for rare disorders of calcium and phosphorus metabolism, Bicêtre Paris Sud, APHP, Le Kremlin-Bicêtre, France ; INSERM U986, INSERM, Le Kremlin-Bicêtre, France ; INSERM, UMR_S 938, CDR Saint-Antoine, Paris, F-75012 France.

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http://dx.doi.org/10.1186/s13148-015-0143-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4650860PMC
November 2015

Germline correction of an epimutation related to Silver-Russell syndrome.

Hum Mol Genet 2015 Jun 3;24(12):3314-21. Epub 2015 Mar 3.

Equipe GAD, Génétique des Anomalies du Développement, EA 4271, Université de Bourgogne, 21000 Dijon, France, Laboratoire de Biologie de la Reproduction, Maternité,

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http://dx.doi.org/10.1093/hmg/ddv079DOI Listing
June 2015

Prevalence and management of gastrointestinal manifestations in Silver-Russell syndrome.

Arch Dis Child 2015 Apr 18;100(4):353-8. Epub 2014 Nov 18.

Nutrition et Gastroentérologie Pédiatrique, AP-HP, Hôpital Armand-Trousseau, Paris, France Institut de Cardiométabolisme et Nutrition (ICAN), INSERM UMRS U872 (Eq7) Nutriomique, Université Pierre et Marie Curie-Paris 6, Centre de Recherche des Cordeliers, Paris, France.

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http://dx.doi.org/10.1136/archdischild-2013-305864DOI Listing
April 2015

Case report of GNAS epigenetic defect revealed by a congenital hypothyroidism.

Pediatrics 2015 Apr;135(4):e1079-83

Assistance Publique Hôpitaux de Marseille, Hôpital la Conception, Laboratory of Molecular Biology, Marseille, France; Aix Marseille Université, CNRS, CRN2M-UMR 7286, Marseille, France;

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http://dx.doi.org/10.1542/peds.2014-2806DOI Listing
April 2015

Exhaustive methylation analysis revealed uneven profiles of methylation at IGF2/ICR1/H19 11p15 loci in Russell Silver syndrome.

J Med Genet 2015 Jan 13;52(1):53-60. Epub 2014 Nov 13.

INSERM, UMR_S 938, CDR Saint-Antoine, Paris, France Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, Paris, France Department of Pediatric Endocrinology, APHP, Armand Trousseau Hospital, Paris, France.

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http://dx.doi.org/10.1136/jmedgenet-2014-102732DOI Listing
January 2015

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

Curr Pharm Des 2014 ;20(11):1751-63

Explorations Fonctionnelles Endocriniennes, Hopital Armand Trousseau, Pierre & Marie Curie School of Medicine, INSERM UMR-S938, 26 Av du Dr Arnold Netter, 75012, France.

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http://dx.doi.org/10.2174/13816128113199990525DOI Listing
December 2014

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.

Hum Mol Genet 2014 Nov 10;23(21):5763-73. Epub 2014 Jun 10.

INSERM, UMR_S 938, CDR Saint-Antoine, Paris F-75012, France, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, Paris F-75012, France, Pediatric Endocrinology, APHP, Armand Trousseau Hospital, Paris, France,

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http://dx.doi.org/10.1093/hmg/ddu290DOI Listing
November 2014

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

Hum Mutat 2014 Oct 22;35(10):1211-20. Epub 2014 Aug 22.

INSERM, UMR_S 938, CDR Saint-Antoine, Paris, F-75012, France; Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, Paris, F-75012, France; APHP, Armand Trousseau Hospital, Pediatric Endocrinology, Paris, France.

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http://dx.doi.org/10.1002/humu.22623DOI Listing
October 2014

Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith-Wiedemann syndrome upon maternal transmission.

J Med Genet 2014 Aug 4;51(8):502-11. Epub 2014 Jul 4.

Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Victoria, Australia.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2014-102368
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http://dx.doi.org/10.1136/jmedgenet-2014-102368DOI Listing
August 2014

Clinical utility gene card for: Beckwith-Wiedemann Syndrome.

Eur J Hum Genet 2014 Mar 3;22(3). Epub 2013 Jul 3.

Department of Paediatrics and Genome Biology Program, Hospital for Sick Children and Institute of Medical Science, University of Toronto, Toronto, Canada.

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http://dx.doi.org/10.1038/ejhg.2013.132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925261PMC
March 2014

Degree of methylation of ZAC1 (PLAGL1) is associated with prenatal and post-natal growth in healthy infants of the EDEN mother child cohort.

Epigenetics 2014 Mar 6;9(3):338-45. Epub 2013 Dec 6.

INSERM; Centre for Research in Epidemiology and Population Health (CESP); Lifelong epidemiology of obesity, diabetes and renal disease team; Villejuif, France; Paris-Sud University; UMRS 1018; Villejuif, France.

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http://www.tandfonline.com/doi/abs/10.4161/epi.27387
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http://dx.doi.org/10.4161/epi.27387DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4053452PMC
March 2014

Beckwith-Wiedemann and Russell-Silver Syndromes: from new molecular insights to the comprehension of imprinting regulation.

Curr Opin Endocrinol Diabetes Obes 2014 Feb;21(1):30-8

aAP-HP, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes bUPMC Paris 6, UMR_S938, Centre de Recherche de Saint-Antoine cINSERM, UMR_S938, Centre de Recherche de Saint-Antoine, Paris, France.

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http://dx.doi.org/10.1097/MED.0000000000000037DOI Listing
February 2014

Epigenetic anomalies in childhood growth disorders.

Nestle Nutr Inst Workshop Ser 2013 22;71:65-73. Epub 2013 Jan 22.

Laboratoire d'Explorations Fonctionnelles Endocriniennes, APHP, Hôpital Armand Trousseau, INSERM UMRS-938 Team 4, Université Pierre et Marie Curie-Paris 6, Paris, France.

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http://dx.doi.org/10.1159/000342568DOI Listing
October 2013

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

Eur J Med Genet 2013 Oct 24;56(10):546-50. Epub 2013 Jul 24.

APHP, Groupe hospitalier Pitié-Salpêtrière, Département de Génétique et Cytogénétique, Paris, France; Université Pierre et Marie Curie, Faculté de Médecine, Paris, France; INSERM UMRS 975, CNRS UMR 725, Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2013.06.005DOI Listing
October 2013

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

Endocr Dev 2012 23;23:60-70. Epub 2012 Nov 23.

Laboratoire d'Explorations Fonctionnelles Endocriniennes, APHP, Hôpital Armand Trousseau, INSERM UMRS-938 team 4, Université Pierre et Marie Curie-Paris 6, Paris, France.

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http://dx.doi.org/10.1159/000341750DOI Listing
May 2013

Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity.

Endocr Rev 2011 Aug 27;32(4):472-97. Epub 2011 Apr 27.

Department of Endocrinology, Barts and the London School of Medicine and Dentistry, London, United Kingdom.

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http://dx.doi.org/10.1210/er.2010-0023DOI Listing
August 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.

Hum Mutat 2011 Feb;32(2):249-58

APHP, Hôpital Armand Trousseau, Laboratoire d'Explorations Fonctionnelles Endocriniennes, INSERM UMR-S938 Team 4, Université Pierre et Marie Curie-Paris 6, Paris, France.

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http://dx.doi.org/10.1002/humu.21403DOI Listing
February 2011

IGF1 molecular anomalies demonstrate its critical role in fetal, postnatal growth and brain development.

Best Pract Res Clin Endocrinol Metab 2011 Feb;25(1):181-90

APHP, Hôpital Armand-Trousseau, Explorations Fonctionnelles Endocriniennes, Paris, France.

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https://linkinghub.elsevier.com/retrieve/pii/S1521690X100009
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http://dx.doi.org/10.1016/j.beem.2010.08.005DOI Listing
February 2011

Lessons from imprinted multilocus loss of methylation in human syndromes: A step toward understanding the mechanisms underlying these complex diseases.

Epigenetics 2010 Jul 1;5(5):373-7. Epub 2010 Jul 1.

APHP, Hôpital Armand Trousseau, Laboratoire d’Explorations Fonctionnelles Endocriniennes, INSERM UMR-S938 Team 4, Université Pierre et Marie Curie-Paris 6, Paris, France.

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http://dx.doi.org/10.4161/epi.5.5.11851DOI Listing
July 2010

[Epigenetics, genomic imprinting and developmental disorders].

Bull Acad Natl Med 2010 Feb;194(2):287-97; discussion 297-300

UPMC ParisVI-INSERM UMRS.938, Paris, France.

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February 2010

Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci.

Hum Mol Genet 2009 Dec 14;18(24):4724-33. Epub 2009 Sep 14.

Laboratoire d'Explorations Fonctionnelles Endocriniennes, APHP, Hôpital Armand Trousseau, INSERM UMR-S938 Team 4, Université Pierre et Marie Curie-Paris 6, Paris, France.

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http://dx.doi.org/10.1093/hmg/ddp435DOI Listing
December 2009

Partial primary deficiency of insulin-like growth factor (IGF)-I activity associated with IGF1 mutation demonstrates its critical role in growth and brain development.

J Clin Endocrinol Metab 2009 Oct 22;94(10):3913-21. Epub 2009 Sep 22.

Assistance Publique-Hôpitaux de Paris, Hôpital Armand-Trousseau, Explorations Fonctionnelles Endocriniennes, 75012 Paris, France.

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http://dx.doi.org/10.1210/jc.2009-0452DOI Listing
October 2009

Epigenetics in Silver-Russell syndrome.

Best Pract Res Clin Endocrinol Metab 2008 Jun;22(3):403-14

Explorations fonctionnelles endocriniennes, Hôpital Trousseau (APHP); INSERM U515; Université Pierre et Marie Curie-Paris6, 26 avenue du Dr Netter, 75012 Paris, France.

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http://dx.doi.org/10.1016/j.beem.2008.01.012DOI Listing
June 2008

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

Nat Genet 2005 Sep 7;37(9):1003-7. Epub 2005 Aug 7.

Laboratoire d'Explorations Fonctionnelles Endocriniennes, Inserm U515 et UPMC Paris 6, Hôpital Armand Trousseau, AP-HP, 26 avenue Arnold Netter, 75012 Paris, France.

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http://dx.doi.org/10.1038/ng1629DOI Listing
September 2005