UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 168

Sortiert nach

The epigenetic imprinting defect of patients with Beckwith—Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region

Journal of medical genetics, 2006-12, Vol.43 (12), p.902-907

2006

Link zum Volltext

Verfügbarkeit prüfen

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome

European journal of human genetics : EJHG, 2009-05, Vol.17 (5), p.611-619

2009

Link zum Volltext

Verfügbarkeit prüfen

Association of In Vitro Fertilization with Beckwith-Wiedemann Syndrome and Epigenetic Alterations of LIT1 and H19

American journal of human genetics, 2003-01, Vol.72 (1), p.156-160

2003

Link zum Volltext

Verfügbarkeit prüfen

Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith–Wiedemann syndrome

Human molecular genetics, 2002-05, Vol.11 (11), p.1317-1325

2002

Link zum Volltext

Verfügbarkeit prüfen

Epigenetic Alterations of H19 and LIT1 Distinguish Patients with Beckwith-Wiedemann Syndrome with Cancer and Birth Defects

American journal of human genetics, 2002-03, Vol.70 (3), p.604-611

2002

Link zum Volltext

Verfügbarkeit prüfen

Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome

American journal of human genetics, 2004-04, Vol.74 (4), p.715-720

2004

Link zum Volltext

Verfügbarkeit prüfen

Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome

Journal of medical genetics, 2000-12, Vol.37 (12), p.921-926

2000

Link zum Volltext

Verfügbarkeit prüfen

No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome

European journal of human genetics : EJHG, 2012-01, Vol.20 (1), p.119-121

2012

Link zum Volltext

Verfügbarkeit prüfen

The 5' end of the KCNQ10T1 gene is hypomethylated in the Beckwith-Wiedemann syndrome

Human genetics, 2002-07, Vol.111 (1), p.105-107

2002

Link zum Volltext

Verfügbarkeit prüfen

Alternative mechanisms associated with silencing of CDKN1C in Beckwith–Wiedemann syndrome

Journal of medical genetics, 2005-08, Vol.42 (8), p.648-655

2005

Link zum Volltext

Verfügbarkeit prüfen

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome

Nature genetics, 2012-07, Vol.44 (7), p.788-792

2012

Link zum Volltext

Verfügbarkeit prüfen

Microdeletion of LIT1 in Familial Beckwith-Wiedemann Syndrome

American journal of human genetics, 2004-11, Vol.75 (5), p.844-849

2004

Link zum Volltext

Verfügbarkeit prüfen

The cell type-specific IGF2 expression during early human development correlates to the pattern of overgrowth and neoplasia in the Beckwith- Wiedemann syndrome

The American journal of pathology, 1994-10, Vol.145 (4), p.802-817

1994

Link zum Volltext

Verfügbarkeit prüfen

Hypercalciuria in Beckwith-Wiedemann syndrome

The Journal of pediatrics, 2003-02, Vol.142 (2), p.206-208

2003

Link zum Volltext

Verfügbarkeit prüfen

Beckwith-Wiedemann Syndrome: An Update and Review for the Primary Pediatrician

Clinical pediatrics, 1995-06, Vol.34 (6), p.317-326

1995

Link zum Volltext

Verfügbarkeit prüfen

Genetic linkage of Beckwith-Wiedemann syndrome to 11p15

American journal of human genetics, 1989-05, Vol.44 (5), p.720-723

1989

Link zum Volltext

Verfügbarkeit prüfen

Risk of cancer during the first four years of life in children from The Beckwith-Wiedemann Syndrome Registry

The Journal of pediatrics, 1998-03, Vol.132 (3), p.398-400

1998

Link zum Volltext

Verfügbarkeit prüfen

Epigenetics and Assisted Reproductive Technology: A Call for Investigation

American journal of human genetics, 2004-04, Vol.74 (4), p.599-609

2004

Link zum Volltext

Verfügbarkeit prüfen

Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome

Journal of medical genetics, 1997-05, Vol.34 (5), p.353-359

1997

Link zum Volltext

Verfügbarkeit prüfen

Beckwith-Wiedemann syndrome: a demonstration of the mechanisms responsible for the excess of transmitting females

Journal of medical genetics, 1992-04, Vol.29 (4), p.217-220

1992

Link zum Volltext

Verfügbarkeit prüfen

The centromeric 11p15 imprinting centre is also involved in Silver–Russell syndrome

Journal of medical genetics, 2007-01, Vol.44 (1), p.59-63

2007

Link zum Volltext

Verfügbarkeit prüfen

Children with Idiopathic Hemihypertrophy and Beckwith-Wiedemann Syndrome Have Different Constitutional Epigenotypes Associated with Wilms Tumor

American journal of human genetics, 2005-11, Vol.77 (5), p.887-891

2005

Link zum Volltext

Verfügbarkeit prüfen

Mosaic uniparental disomy in Beckwith-Wiedemann syndrome

Journal of medical genetics, 1994-10, Vol.31 (10), p.749-753

1994

Link zum Volltext

Verfügbarkeit prüfen

Sex dependent transmission of Beckwith-Wiedemann syndrome associated with a reciprocal translocation t(9;11)(p11.2;p15.5)

Journal of medical genetics, 1993-11, Vol.30 (11), p.958-961

1993

Link zum Volltext

Verfügbarkeit prüfen

Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism

Journal of medical genetics, 2011-03, Vol.48 (3), p.212-216

2011

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 168

Suche als RSS-Feed

Aktive Filter

KollektionIngentaConnect Journals

KollektionWiley-Blackwell Journals

ThemaMedical Genetics

ThemaMedical Sciences

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(156)
Mit Volltextzugriff
(151)

Publikationsform

Artikel
(168)

Sprache

Englisch
(168)
Japanisch
(34)

Erscheinungsjahr

n.n

Thema

Biological And Medical Sciences
(168)
Humans
(152)
Science & Technology
(140)
Life Sciences & Biomedicine
(137)
Genetics & Heredity
(104)
Female
(98)
Male
(94)
Complex Syndromes
(75)
Beckwith-Wiedemann Syndrome - Genetics
(63)
General Aspects. Genetic Counseling
(59)
Genomic Imprinting
(48)
Dna Methylation
(41)
Fundamental And Applied Biological Sciences. Psychology
(40)
Genetics
(40)
Genetics Of Eukaryotes. Biological And Molecular Evolution
(39)
Molecular And Cellular Biology
(38)
Chromosome Aberrations
(33)
Infant, Newborn
(32)

13 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

The epigenetic imprinting defect of patients with Beckwith—Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome

Association of In Vitro Fertilization with Beckwith-Wiedemann Syndrome and Epigenetic Alterations of LIT1 and H19

Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith–Wiedemann syndrome

Epigenetic Alterations of H19 and LIT1 Distinguish Patients with Beckwith-Wiedemann Syndrome with Cancer and Birth Defects

Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome

Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome

No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome

The 5' end of the KCNQ10T1 gene is hypomethylated in the Beckwith-Wiedemann syndrome

Alternative mechanisms associated with silencing of CDKN1C in Beckwith–Wiedemann syndrome

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome

Microdeletion of LIT1 in Familial Beckwith-Wiedemann Syndrome

The cell type-specific IGF2 expression during early human development correlates to the pattern of overgrowth and neoplasia in the Beckwith- Wiedemann syndrome

Hypercalciuria in Beckwith-Wiedemann syndrome

Beckwith-Wiedemann Syndrome: An Update and Review for the Primary Pediatrician

Genetic linkage of Beckwith-Wiedemann syndrome to 11p15

Risk of cancer during the first four years of life in children from The Beckwith-Wiedemann Syndrome Registry

Epigenetics and Assisted Reproductive Technology: A Call for Investigation

Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome: a demonstration of the mechanisms responsible for the excess of transmitting females

The centromeric 11p15 imprinting centre is also involved in Silver–Russell syndrome

Children with Idiopathic Hemihypertrophy and Beckwith-Wiedemann Syndrome Have Different Constitutional Epigenotypes Associated with Wilms Tumor

Mosaic uniparental disomy in Beckwith-Wiedemann syndrome

Sex dependent transmission of Beckwith-Wiedemann syndrome associated with a reciprocal translocation t(9;11)(p11.2;p15.5)

Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism

Aktive Filter

Suchergebnisse filtern