L. Soellner

发表

Paternally Inherited IGF2 Mutation and Growth Restriction.

W. van Workum, T. Eggermann, G. Binder, 2015, The New England journal of medicine.

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

T. Eggermann, S. Mansour, I. Temple, 2015, Nature Communications.

Search for cis-acting factors and maternal effect variants in Silver-Russell patients with ICR1 hypomethylation and their mothers

T. Eggermann, I. Kurth, M. Elbracht, 2018, European Journal of Human Genetics.

First report on concordant monozygotic twins with Silver-Russell syndrome and ICR1 hypomethylation.

T. Eggermann, G. Binder, A. Riess, 2016, European journal of medical genetics.

No major contribution of IGF2 variants to the etiology of sporadic 11p15‐associated imprinting disorders

T. Eggermann, G. Binder, M. Begemann, 2016, American journal of medical genetics. Part A.

The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome.

T. Eggermann, Maria Yakoreva, K. Õunap, 2015, Genetic testing and molecular biomarkers.

Congenital imprinting disorders: Application of multilocus and high throughput methods to decipher new pathomechanisms and improve their management.

T. Eggermann, D. Monk, F. Rezwan, 2015, Molecular and cellular probes.

Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances.

S. Bens, R. Siebert, J. Richter, 2016, Epigenomics.

Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling

R. Weksberg, Z. Tümer, P. Lapunzina, 2015, European Journal of Human Genetics.

Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes

T. Eggermann, V. Kučinskas, M. Begemann, 2016, BMC Medical Genetics.

Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing

S. Bens, R. Siebert, T. Eggermann, 2014, Journal of Molecular Medicine.

Use of multilocus methylation-specific single nucleotide primer extension (MS-SNuPE) technology in diagnostic testing for human imprinted loci

K. Zerres, T. Eggermann, M. Begemann, 2012, Epigenetics.

IGF1R mutation analysis in short children with Silver-Russell syndrome features.

T. Eggermann, H. Wollmann, G. Binder, 2013, Journal of pediatric genetics.

NLRP genes and their role in preeclampsia and multi-locus imprinting disorders

K. Zerres, T. Eggermann, W. Rath, 2018, Journal of perinatal medicine.

Mosaicism and uniparental disomy in prenatal diagnosis.

T. Eggermann, K. Buiting, D. Kotzot, 2015, Trends in molecular medicine.

Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith–Wiedemann syndrome and ovarian steroid cell tumour

T. Eggermann, M. Begemann, L. Soellner, 2012, European Journal of Human Genetics.

Recent Advances in Imprinting Disorders

Z. Tümer, D. Monk, E. Maher, 2017, Clinical genetics.

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

T. Eggermann, F. Degenhardt, M. Begemann, 2017, European Journal of Human Genetics.

Search for cis-acting factors and maternal effect variants in Silver-Russell patients with ICR1 hypomethylation and their mothers

T. Eggermann, I. Kurth, M. Elbracht, 2018, European Journal of Human Genetics.

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.

K. Zerres, T. Eggermann, M. Elbracht, 2017, The Journal of pediatrics.

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

R. Weksberg, Z. Tümer, P. Lapunzina, 2016, European Journal of Human Genetics.

De Novo Duplication of 11p15 Associated With Congenital Diaphragmatic Hernia

T. Eggermann, H. Engels, H. Reutter, 2018, Frontiers in Pediatrics.

Microdeletions of the 7q32.2 imprinted region are associated with Silver–Russell syndrome features

T. Eggermann, M. Begemann, L. Soellner, 2016, American journal of medical genetics. Part A.

Maternal uniparental disomy of chromosome 16 [upd(16)mat]: clinical features are rather caused by (hidden) trisomy 16 mosaicism than by upd(16)mat itself

T. Eggermann, M. Elbracht, M. Begemann, 2017, Clinical genetics.

Ac ce pt ed M an us cr ip t 1 Mosaicism and uniparental disomy in prenatal diagnosis

T. Eggermann, K. Buiting, D. Kotzot, 2014 .

Congenital imprinting disorders: a novel mechanism linking seemingly unrelated disorders.

T. Eggermann, H. Reutter, M. Elbracht, 2013, The Journal of pediatrics.

A familial GLI2 deletion (2q14.2) not associated with the holoprosencephaly syndrome phenotype

T. Eggermann, M. Elbracht, U. Kordass, 2015, American journal of medical genetics. Part A.

Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing

S. Bens, R. Siebert, T. Eggermann, 2014, Journal of Molecular Medicine.