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Recent Advances in Imprinting Disorders

Clinical genetics, 2017-01, Vol.91 (1), p.3-13

2017

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

Hormone research in paediatrics, 2013-01, Vol.80 (6), p.457-465

2013

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

Journal of medical genetics, 2013-12, Vol.50 (12), p.823-830

2013

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The current landscape of European registries for rare endocrine conditions

European journal of endocrinology, 2019-01, Vol.180 (1), p.89-98

2019

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Electronic reporting of rare endocrine conditions within a clinical network: results from the EuRRECa project

Endocrine Connections, 2023-12, Vol.12 (12), p.1-12

2023

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

Clinical epigenetics, 2022-12, Vol.14 (1), p.190-190, Article 190

2022

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Olfactory Anomalies in CHARGE Syndrome: Imaging Findings of a Potential Major Diagnostic Criterion

American journal of neuroradiology : AJNR, 2008-08, Vol.29 (7), p.1266-1269

2008

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Ovarian-sparing surgery for ovarian teratoma in children

Pediatric blood & cancer, 2011-09, Vol.57 (3), p.429-434

2011

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Epigenetics, genomic imprinting and assisted reproductive technology

Annales d'endocrinologie, 2010-05, Vol.71 (3), p.237-238

2010

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PO4-9: Complex tissue-specific epigenotypes in Russell Silver syndrome with 11p15 ICR1 hypomethylation: major consequences for the diagnosis

Growth hormone & IGF research, 2014-10, Vol.24, p.S51-S52

2014

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Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene

The journal of clinical endocrinology and metabolism, 1998-02, Vol.83 (2), p.432-436

1998

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Evidence for a Continuum of Genetic, Phenotypic, and Biochemical Abnormalities in Children with Growth Hormone Insensitivity

Endocrine reviews, 2011-08, Vol.32 (4), p.472-497

2011

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Acute lymphocytic leukaemia in a child with Beckwith–Wiedemann syndrome harbouring a CDKN1C mutation

European journal of medical genetics, 2010-11, Vol.53 (6), p.400-403

2010

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Beckwith-Wiedemann syndrome in association with posterior hypoplasia of the cerebellar vermis

Prenatal diagnosis, 2009-09, Vol.29 (9), p.906-907

2009

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Pituitary stalk interruption syndrome : A clinical-biological-genetic assessment of its pathogenesis

The journal of clinical endocrinology and metabolism, 1997-10, Vol.82 (10), p.3450-3454

1997

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Height and body mass index in molecularly confirmed Silver–Russell syndrome and the long‐term effects of growth hormone treatment

Clinical endocrinology (Oxford), 2022-09, Vol.97 (3), p.284-292

2022

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Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)

Orphanet journal of rare diseases, 2020-06, Vol.15 (1), p.1-144, Article 144

2020

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Pathophysiology of syndromic combined pituitary hormone deficiency due to a LHX3 defect in light of LHX3 and LHX4 expression during early human development

Gene Expression Patterns, 2004-12, Vol.5 (2), p.279-284

2004

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Intellectual functioning of adults with Silver-Russell syndrome due to IGF2/H19 hypomethylation in the 11p15 region

European journal of human genetics : EJHG, 2020, Vol.28 (SUPPL 1), p.795-796

2020

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A proof of concept of a machine learning algorithm to predict late-onset 21-hydroxylase deficiency in children with premature pubic hair

Yearbook of Paediatric Endocrinology, 2023-09

2023

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Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives

Endocrine Connections, 2022-11, Vol.11 (11), p.1-14

2022

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P-83 Study of two IGF-1R gene expression variants

Growth hormone & IGF research, 2008, Vol.18, p.S51-S51

2008

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OR11,2 A central role of insulin-like growth factor-II in embryonic growth and the development of brain and pancreas in zebrafish

Growth hormone & IGF research, 2008, Vol.18, p.S22-S22

2008

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Germline correction of an epimutation related to Silver-Russell syndrome

Human molecular genetics, 2015-06, Vol.24 (12), p.3314-3321

2015

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

Nature genetics, 2000-06, Vol.25 (2), p.182-186

2000

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Recent Advances in Imprinting Disorders

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

The current landscape of European registries for rare endocrine conditions

Electronic reporting of rare endocrine conditions within a clinical network: results from the EuRRECa project

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

Olfactory Anomalies in CHARGE Syndrome: Imaging Findings of a Potential Major Diagnostic Criterion

Ovarian-sparing surgery for ovarian teratoma in children

Epigenetics, genomic imprinting and assisted reproductive technology

PO4-9: Complex tissue-specific epigenotypes in Russell Silver syndrome with 11p15 ICR1 hypomethylation: major consequences for the diagnosis

Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene

Evidence for a Continuum of Genetic, Phenotypic, and Biochemical Abnormalities in Children with Growth Hormone Insensitivity

Acute lymphocytic leukaemia in a child with Beckwith–Wiedemann syndrome harbouring a CDKN1C mutation

Beckwith-Wiedemann syndrome in association with posterior hypoplasia of the cerebellar vermis

Pituitary stalk interruption syndrome : A clinical-biological-genetic assessment of its pathogenesis

Height and body mass index in molecularly confirmed Silver–Russell syndrome and the long‐term effects of growth hormone treatment

Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)

Pathophysiology of syndromic combined pituitary hormone deficiency due to a LHX3 defect in light of LHX3 and LHX4 expression during early human development

Intellectual functioning of adults with Silver-Russell syndrome due to IGF2/H19 hypomethylation in the 11p15 region

A proof of concept of a machine learning algorithm to predict late-onset 21-hydroxylase deficiency in children with premature pubic hair

Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives

P-83 Study of two IGF-1R gene expression variants

OR11,2 A central role of insulin-like growth factor-II in embryonic growth and the development of brain and pancreas in zebrafish

Germline correction of an epimutation related to Silver-Russell syndrome

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

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