UB Paderborn / Katalog / Suche / in CDI

Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes

European journal of human genetics : EJHG, 2019-09, Vol.27 (9), p.1326-1340

2019

Link zum Volltext

Verfügbarkeit prüfen

Comparison of fetal cardiac functions between small-for-gestational age fetuses and late-onset growth-restricted fetuses

Journal of perinatal medicine, 2019-10, Vol.47 (8), p.879

2019

Link zum Volltext

Verfügbarkeit prüfen

Evidence for correlations between BMI-associated SNPs and circRNAs

Scientific reports, 2022-07, Vol.12 (1), p.12643-12643, Article 12643

2022

Link zum Volltext

Verfügbarkeit prüfen

Generation of heterozygous and homozygous hESC H9 sublines carrying inactivating mutations in RB1

Stem cell research, 2018-12, Vol.33, p.41-45

2018

Link zum Volltext

Verfügbarkeit prüfen

The human retinoblastoma gene is imprinted

PLoS genetics, 2009-12, Vol.5 (12), p.e1000790

2009

Link zum Volltext

Verfügbarkeit prüfen

Flecainide as first-line treatment for fetal supraventricular tachycardia

The journal of maternal-fetal & neonatal medicine, 2018-02, Vol.31 (4), p.407-412

2018

Link zum Volltext

Verfügbarkeit prüfen

Biallelic and monoallelic deletion of the RB1 promoter in six isogenic clonal H9 hESC lines

Stem cell research, 2020-05, Vol.45, p.101779-101779, Article 101779

2020

Link zum Volltext

Verfügbarkeit prüfen

Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood

Scientific reports, 2021-07, Vol.11 (1), p.15459-11, Article 15459

2021

Link zum Volltext

Verfügbarkeit prüfen

TFF1 in Aqueous Humor-A Potential New Biomarker for Retinoblastoma

Cancers, 2022-01, Vol.14 (3), p.677

2022

Link zum Volltext

Verfügbarkeit prüfen

RB1 -Negative Retinal Organoids Display Proliferation of Cone Photoreceptors and Loss of Retinal Differentiation

Cancers, 2022-04, Vol.14 (9), p.2166

2022

Link zum Volltext

Verfügbarkeit prüfen

Introduction of a Variant Classification System for Analysis of Genotype-Phenotype Relationships in Heritable Retinoblastoma

Cancers, 2021-03, Vol.13 (7), p.1605

2021

Link zum Volltext

Verfügbarkeit prüfen

Clinical utility gene card for: Angelman Syndrome

European journal of human genetics : EJHG, 2015-02, Vol.23 (2), p.3-3

2015

Link zum Volltext

Verfügbarkeit prüfen

The origin of the RB1 imprint

PloS one, 2013-11, Vol.8 (11), p.e81502-e81502

2013

Link zum Volltext

Verfügbarkeit prüfen

13q deletion syndrome resulting from balanced chromosomal rearrangement in father: the significance of parental karyotyping

Molecular cytogenetics, 2020-07, Vol.13 (1), p.31-5, Article 31

2020

Link zum Volltext

Verfügbarkeit prüfen

Prenatal diagnosis of aortopulmonary window by foetal echocardiography: 'U or reversed U sign'

Journal of obstetrics and gynaecology, 2019-07, Vol.39 (5), p.712-713

2019

Link zum Volltext

Verfügbarkeit prüfen

Urinary neutrophil gelatinase-associated lipocalin is associated with preeclampsia in a cohort of Turkish women

Hypertension in pregnancy, 2019-07, Vol.38 (3), p.157-162

2019

Link zum Volltext

Verfügbarkeit prüfen

Maternal levels of growth differentiation factor-15 in patients with preeclampsia

Hypertension in pregnancy, 2018-10, Vol.37 (4), p.192-196

2018

Link zum Volltext

Verfügbarkeit prüfen

Human PPP1R26P1 functions as cis-repressive element in mouse Rb1

PloS one, 2013-09, Vol.8 (9), p.e74159-e74159

2013

Link zum Volltext

Verfügbarkeit prüfen

The maternal uniparental disomy of chromosome 6 (upd(6)mat) “phenotype”: result of placental trisomy 6 mosaicism?

Molecular genetics & genomic medicine, 2017-11, Vol.5 (6), p.668-677

2017

Link zum Volltext

Verfügbarkeit prüfen

IGF2 H19 hypomethylation in Silver-Russell syndrome and isolated hemihypoplasia

European journal of human genetics : EJHG, 2008-03, Vol.16 (3), p.328-334

2008

Link zum Volltext

Verfügbarkeit prüfen

Is there a relationship between decreased humanin levels in gestational diabetes mellitus women requiring insulin treatment?

Perinatal journal, 2023-12

2023

Link zum Volltext

Verfügbarkeit prüfen

Korrelationen zwischen BMI-assoziierten genetischen Varianten und zirkulären RNAs (#19)

Adipositas - Ursachen, Folgeerkrankungen, Therapie, 2022, Vol.16 (3)

2022

Link zum Volltext

Verfügbarkeit prüfen

Prenatal diagnosis of left pulmonary artery sling and review of literature

Echocardiography (Mount Kisco, N.Y.), 2019-05, Vol.36 (5), p.1001-1004

2019

Link zum Volltext

Verfügbarkeit prüfen

Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32

European journal of human genetics : EJHG, 2015-02, Vol.23 (2), p.180-188

2015

Link zum Volltext

Verfügbarkeit prüfen

Molecular testing for imprinting disorders

Medizinische Genetik, 2020-12, Vol.32 (4), p.305-319

2020

Link zum Volltext

Verfügbarkeit prüfen

Menü

Weitere Dienste

Einstellungen

Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes

Comparison of fetal cardiac functions between small-for-gestational age fetuses and late-onset growth-restricted fetuses

Evidence for correlations between BMI-associated SNPs and circRNAs

Generation of heterozygous and homozygous hESC H9 sublines carrying inactivating mutations in RB1

The human retinoblastoma gene is imprinted

Flecainide as first-line treatment for fetal supraventricular tachycardia

Biallelic and monoallelic deletion of the RB1 promoter in six isogenic clonal H9 hESC lines

Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood

TFF1 in Aqueous Humor-A Potential New Biomarker for Retinoblastoma

RB1 -Negative Retinal Organoids Display Proliferation of Cone Photoreceptors and Loss of Retinal Differentiation

Introduction of a Variant Classification System for Analysis of Genotype-Phenotype Relationships in Heritable Retinoblastoma

Clinical utility gene card for: Angelman Syndrome

The origin of the RB1 imprint

13q deletion syndrome resulting from balanced chromosomal rearrangement in father: the significance of parental karyotyping

Prenatal diagnosis of aortopulmonary window by foetal echocardiography: 'U or reversed U sign'

Urinary neutrophil gelatinase-associated lipocalin is associated with preeclampsia in a cohort of Turkish women

Maternal levels of growth differentiation factor-15 in patients with preeclampsia

Human PPP1R26P1 functions as cis-repressive element in mouse Rb1

The maternal uniparental disomy of chromosome 6 (upd(6)mat) “phenotype”: result of placental trisomy 6 mosaicism?

IGF2 H19 hypomethylation in Silver-Russell syndrome and isolated hemihypoplasia

Is there a relationship between decreased humanin levels in gestational diabetes mellitus women requiring insulin treatment?

Korrelationen zwischen BMI-assoziierten genetischen Varianten und zirkulären RNAs (#19)

Prenatal diagnosis of left pulmonary artery sling and review of literature

Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32

Molecular testing for imprinting disorders

Suchergebnisse filtern