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SpringerLink电子期刊(36)

在“SpringerLink电子期刊”中，命中：36条，耗时：0.0399809 秒

在所有数据库中总计命中：124条

1. Decreased CDKN1C Expression in Congenital Alveolar Rhabdomyosarcoma Associated with Beckwith-Wiedemann Syndrome

作者： Fiammetta Piersigilli ; Cinzia Auriti ; Vito Mondì…

关键词：Beckwith ; Wiedemann syndrome ; Congenital alveolar rhabdomyosarcoma ; Blueberry muffin syndrome ; CDKN1C

刊名：The Indian Journal of Pediatrics

出版年：2016

2. Mutations in the PCNA-binding site of CDKN1C inhibit cell proliferation by impairing the entry into S phase

作者：Kleiton S Borges (1) (2)
Valerie A Arboleda (1) (3)
Eric Vilain (1) (4) (5)

1. Department of Human Genetics ; David Geffen School of Medicine at UCLA ; University of California ; Los Angeles ; 695 Charles E. Young Drive ; Los Angeles ; CA ; 90095 ; USA
2. Department of Genetics ; Ribeir茫o Preto Medical School ; University of S茫o ; Ribeir茫o Preto ; Av. Bandeirantes 3900 ; CEP 14049-900 ; Ribeir茫o Preto ; SP ; Brazil
3. Department of Pathology and Laboratory Medicine ; David Geffen School of Medicine at UCLA ; University of California ; Los Angeles ; USA
4. Department of Pediatrics ; David Geffen School of Medicine ; University of California ; Los Angeles ; USA
5. Department of Urology ; David Geffen School of Medicine ; University of California ; Los Angeles ; USA

关键词：Cell cycle ; CDK ; inhibitor ; IMAGe syndrome ; Cyclin ; Beckwith Wiedemann syndrome ; Intrauterine growth restriction

刊名：Cell Division

出版年：2015

3. Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects

作者：Abdulla Ibrahim (1) (2)
Gail Kirby (3)
Carol Hardy (4)
Renuka P Dias (3)
Louise Tee (3)
Derek Lim (3) (4)
Jonathan Berg (2)
Fiona MacDonald (4)
Peter Nightingale (5)
Eamonn R Maher (1) (3)

1. Department of Medical Genetics ; University of Cambridge and NIHR Cambridge Biomedical Research Centre ; Cambridge ; CB2 0QQ ; UK
2. Department of Clinical Genetics ; University of Dundee ; Ninewells Hospital and Medical School ; Dundee ; DD1 9SY ; UK
3. Centre for Rare Diseases and Personalised Medicine ; School of Clinical and Experimental Medicine ; College of Medical and Dental Sciences ; University of Birmingham ; Birmingham ; B15 2TT ; UK
4. West Midlands Regional Genetics Service ; Birmingham Women鈥檚 Hospital ; Birmingham ; B15 2TG ; UK
5. Wellcome Trust Clinical Research Facility ; University Hospitals Birmingham NHS Foundation Trust ; Queen Elizabeth Hospital ; Birmingham ; B15 2TH ; UK

关键词：Beckwith ; Wiedemann syndrome ; Imprinting ; 11p15 ; Diagnostic criteria ; Scoring system

刊名：Clinical Epigenetics

出版年：2014

4. Successful use of long acting octreotide in two cases with Beckwith-Wiedemann syndrome and severe hypoglycemia

作者： Hiba Al-Zubeidi ; Michael E Gottschalk…

关键词：Hypoglycemia ; Hyperinsulinism ; Beckwith ; Wiedemann syndrome

刊名：International Journal of Pediatric Endocrinology

出版年：2014

5. A novel large deletion of the ICR1 region including H19 and putative enhancer elements

作者： Helen Fryssira ; Stella Amenta ; Deniz Kanber ; Christalena Sofocleous…

关键词：Beckwith ; Wiedemann syndrome ; Genomic imprinting ; Imprinting disorders ; DNA methylation

刊名：BMC Medical Genetics

出版年：2015

6. Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology

作者：Louise Tee (1)
Derek HK Lim (1) (2)
Renuka P Dias (1) (3)
Marie-Odile Baudement (1)
Amy A Slater (1)
Gail Kirby (1) (2)
Tom Hancocks (1)
Helen Stewart (4)
Carol Hardy (2)
Fiona Macdonald (2)
Eamonn R Maher (1) (2) (5)

关键词：Beckwith ; Wiedemann syndrome ; Assisted reproductive technology ; Imprinting ; Genetics

刊名：Clinical Epigenetics

出版年：2013

7. Different methylation patterns in BWS/SRS cases clarified by MS-MLPA

作者：Mihaela Lukova (1) (2)
Albena Todorova (1) (2)
Tihomir Todorov (2)
Vanyo Mitev (1)

关键词：MS ; MLPA ; Beckwith ; Wiedemann syndrome (BWS) ; Silver–Russell syndrome (SRS) ; 11p15 ; KvDMR ; H19DMR

刊名：Molecular Biology Reports

出版年：2013

8. Novel mutations of CDKN1C in Japanese patients with Beckwith-Wiedemann syndrome

作者：Hitomi Yatsuki (1)
Ken Higashimoto (1)
Kosuke Jozaki (1)
Kayoko Koide (1)
Junichiro Okada (2)
Yoriko Watanabe (2)
Nobuhiko Okamoto (3)
Yoshinobu Tsuno (4)
Yoko Yoshida (5)
Kazutoshi Ueda (5)
Kenji Shimizu (6)
Hirofumi Ohashi (6)
Tsunehiro Mukai (7)
Hidenobu Soejima (1)

关键词：Beckwith ; Wiedemann syndrome ; CDKN1C ; Gene mutation ; Genomic imprinting

刊名：Genes & Genomics

出版年：2013

9. No evidence for copy number and methylation variation in H19 and KCNQ10T1 imprinting control regions in children born small for gestational age

作者： Rinki Murphy ; John MD Thompson ; J?rg Tost ; Edwin A Mitchell

关键词：DNA methylation ; Imprinting ; ICR2 ; ICR1 ; H19 ; KCNQ10T1 ; Small for gestational age

刊名：BMC Medical Genetics

出版年：2014

10. Beckwith Wiedemann imprinting defect found in leucocyte but not buccal DNA in a child born small for gestational age

作者：Rinki Murphy (1) (3)
Deborah Mackay (2)
Ed A Mitchell (2)

关键词：Insulin like growth factor 2 gene ; Small for gestational age ; Beckwith Wiedemann syndrome

刊名：BMC Medical Genetics

出版年：2012

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