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Prenatal Detection of Uniparental Disomies (UPD): Intended and Incidental Finding in the Era of Next Generation Genomics

Genes, 2020-12, Vol.11 (12), p.1454

Eggermann, Thomas

2020

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Human Reproduction and Disturbed Genomic Imprinting

Genes, 2024-01, Vol.15 (2), p.163

Eggermann, Thomas

2024

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Russell-Silver syndrome

American journal of medical genetics. Part C, Seminars in medical genetics, 2010-08, Vol.154C (3), p.355-364

Eggermann, Thomas

2010

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Maternal Effect Mutations: A Novel Cause for Human Reproductive Failure

Geburtshilfe und Frauenheilkunde, 2021-07, Vol.81 (7), p.780-788

Eggermann, Thomas

2021

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Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi)mutations in 11p15 result in opposite clinical pictures

Hormone research, 2009-04, Vol.71 Suppl 2, p.30-35

Eggermann, Thomas

2009

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Disturbed genomic imprinting and its relevance for human reproduction: causes and clinical consequences

Human reproduction update, 2020-02, Vol.26 (2), p.197-213

2020

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Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family

European journal of human genetics : EJHG, 2021-04, Vol.29 (4), p.575-580

2021

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Absence of Maternal Methylation in Biparental Hydatidiform Moles from Women with NLRP7 Maternal-Effect Mutations Reveals Widespread Placenta-Specific Imprinting

PLoS genetics, 2015-11, Vol.11 (11), p.e1005644-e1005644

2015

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Cystinuria: an inborn cause of urolithiasis

Orphanet journal of rare diseases, 2012-04, Vol.7 (1), p.19-19

2012

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Molecular and Clinical Opposite Findings in 11p15.5 Associated Imprinting Disorders: Characterization of Basic Mechanisms to Improve Clinical Management

International journal of molecular sciences, 2019-08, Vol.20 (17), p.4219

2019

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Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring

European journal of human genetics : EJHG, 2017-08, Vol.25 (8), p.924-929

2017

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Recurrent small deletions in KCNQ1OT1 : a challenge for pathogenicity prediction

Journal of medical genetics, 2023-02, Vol.60 (2), p.131

Eggermann, Thomas

2023

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11p13 microduplication: a differential diagnosis of Silver-Russell syndrome?

Molecular cytogenetics, 2024-03, Vol.17 (1), p.5-5

2024

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

European journal of human genetics : EJHG, 2016-10, Vol.24 (10), p.1377-1387

2016

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Molecular Basis of Beckwith–Wiedemann Syndrome Spectrum with Associated Tumors and Consequences for Clinical Practice

Cancers, 2022-06, Vol.14 (13), p.3083

2022

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Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management

The Journal of pediatrics, 2017-08, Vol.187, p.206-212.e1

2017

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Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains

Epigenetics, 2018-02, Vol.13 (2), p.117-121

2018

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One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome

Orphanet journal of rare diseases, 2021-01, Vol.16 (1), p.42-42, Article 42

2021

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Next generation sequencing and imprinting disorders: Current applications and future perspectives: Lessons from Silver-Russell syndrome

Molecular and cellular probes, 2019-04, Vol.44, p.1-7

2019

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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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Kagami‐Ogata syndrome: an important differential diagnosis to Beckwith‐Wiedemann syndrome

Journal of clinical ultrasound, 2020-05, Vol.48 (4), p.240-243

2020

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Mutation analysis of multiple pilomatricomas in a patient with myotonic dystrophy type 1 suggests a DM1-associated hypermutation phenotype

PloS one, 2020-03, Vol.15 (3), p.e0230003-e0230003

2020

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Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature

Journal of Medical Genetics, 2012-09, Vol.49 (9), p.547-553

2012

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Effect of CACNA1C rs1006737 on neural correlates of verbal fluency in healthy individuals

NeuroImage (Orlando, Fla.), 2010-01, Vol.49 (2), p.1831-1836

2010

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Silver-Russell syndrome: genetic basis and molecular genetic testing

Orphanet journal of rare diseases, 2010-06, Vol.5 (1), p.19-19, Article 19

2010

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Prenatal Detection of Uniparental Disomies (UPD): Intended and Incidental Finding in the Era of Next Generation Genomics

Human Reproduction and Disturbed Genomic Imprinting

Russell-Silver syndrome

Maternal Effect Mutations: A Novel Cause for Human Reproductive Failure

Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi)mutations in 11p15 result in opposite clinical pictures

Disturbed genomic imprinting and its relevance for human reproduction: causes and clinical consequences

Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family

Absence of Maternal Methylation in Biparental Hydatidiform Moles from Women with NLRP7 Maternal-Effect Mutations Reveals Widespread Placenta-Specific Imprinting

Cystinuria: an inborn cause of urolithiasis

Molecular and Clinical Opposite Findings in 11p15.5 Associated Imprinting Disorders: Characterization of Basic Mechanisms to Improve Clinical Management

Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring

Recurrent small deletions in KCNQ1OT1 : a challenge for pathogenicity prediction

11p13 microduplication: a differential diagnosis of Silver-Russell syndrome?

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

Molecular Basis of Beckwith–Wiedemann Syndrome Spectrum with Associated Tumors and Consequences for Clinical Practice

Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management

Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains

One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome

Next generation sequencing and imprinting disorders: Current applications and future perspectives: Lessons from Silver-Russell syndrome

CDKN1C mutations: two sides of the same coin

Kagami‐Ogata syndrome: an important differential diagnosis to Beckwith‐Wiedemann syndrome

Mutation analysis of multiple pilomatricomas in a patient with myotonic dystrophy type 1 suggests a DM1-associated hypermutation phenotype

Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature

Effect of CACNA1C rs1006737 on neural correlates of verbal fluency in healthy individuals

Silver-Russell syndrome: genetic basis and molecular genetic testing

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