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Overgrowth syndromes - clinical and molecular aspects and tumour risk

Nature reviews. Endocrinology, 2019-05, Vol.15 (5), p.299-311

2019

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

Nature reviews. Endocrinology, 2018-04, Vol.14 (4), p.229-249

2018

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IGF2: Development, Genetic and Epigenetic Abnormalities

Cells (Basel, Switzerland), 2022-06, Vol.11 (12), p.1886

2022

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CDKN1C mutations: two sides of the same coin

Trends in molecular medicine, 2014-11, Vol.20 (11), p.614-622

2014

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Diagnosis and management of postnatal fetal growth restriction

Baillière's best practice & research. Clinical endocrinology & metabolism, 2018-08, Vol.32 (4), p.523-534

2018

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Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling

European journal of endocrinology, 2024-02, Vol.190 (2), p.151

2024

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

Human reproduction (Oxford), 2012-05, Vol.27 (5), p.1460-1465

2012

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

European journal of endocrinology, 2010-05, Vol.162 (5), p.835-851

2010

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

Sleep medicine, 2019-12, Vol.64, p.23-29

2019

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Two families with normosmic congenital hypogonadotropic hypogonadism and biallelic mutations in KISS1R (KISS1 receptor): clinical evaluation and molecular characterization of a novel mutation

PloS one, 2013-01, Vol.8 (1), p.e53896-e53896

2013

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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

Frontiers in endocrinology (Lausanne), 2019-04, Vol.10, p.263

2019

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New clinical and molecular insights into Silver-Russell syndrome

Current opinion in pediatrics, 2016-08, Vol.28 (4), p.529-535

2016

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

Pediatric pulmonology, 2015-12, Vol.50 (12), p.1354-1359

2015

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Imprinted disorders and growth

Annales d'endocrinologie, 2017-06, Vol.78 (2), p.112-113

2017

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

Human mutation, 2018-12, Vol.39 (12), p.2110-2112

2018

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

Science advances, 2019-02, Vol.5 (2), p.eaau9425-eaau9425

2019

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Is there a relationship between the growth hormone dose and tumoral or cardiovascular complications?

Bulletin de l'Académie nationale de médecine, 2012-01, Vol.196 (1), p.127-35; discussion 135-7

2012

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Existe-t-il une relation entre la dose d'hormone de croissance et d'éventuelles complications tumorales ou cardiovasculaires ?

Bulletin de l'Académie nationale de médecine, 2012, Vol.196 (1), p.127-135

2012

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

Current pharmaceutical design, 2014-04, Vol.20 (11), p.1751-1763

2014

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

Frontiers in endocrinology (Lausanne), 2022-02, Vol.13, p.836731-836731

2022

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

Fetal and pediatric pathology, 2018-11, Vol.37 (6), p.387-399

2018

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Epigenetics, genomic imprinting and developmental disorders

Bulletin de l'Académie nationale de médecine, 2010-02, Vol.194 (2), p.287-97; discussion 297-300

2010

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

The journal of clinical endocrinology and metabolism, 2018-07, Vol.103 (7), p.2436-2446

2018

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

Fetal and pediatric pathology, 2018-11, Vol.37 (6), p.1-417

2018

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Overgrowth syndromes - clinical and molecular aspects and tumour risk

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

IGF2: Development, Genetic and Epigenetic Abnormalities

CDKN1C mutations: two sides of the same coin

Diagnosis and management of postnatal fetal growth restriction

Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling

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

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

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

Two families with normosmic congenital hypogonadotropic hypogonadism and biallelic mutations in KISS1R (KISS1 receptor): clinical evaluation and molecular characterization of a novel mutation

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

New clinical and molecular insights into Silver-Russell syndrome

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

Imprinted disorders and growth

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

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

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

Is there a relationship between the growth hormone dose and tumoral or cardiovascular complications?

Existe-t-il une relation entre la dose d'hormone de croissance et d'éventuelles complications tumorales ou cardiovasculaires ?

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

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

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

Epigenetics, genomic imprinting and developmental disorders

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

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

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