ANKRD11 variants: KBG syndrome and beyond-Reference-Cited by-同舟云学术

ANKRD11 variants: KBG syndrome and beyond

Published:2021-05-14 Issue:2 Volume:100 Page:187-200
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Parenti Ilaria¹^ORCID,Mallozzi Mark B.²,Hüning Irina³,Gervasini Cristina⁴^ORCID,Kuechler Alma¹,Agolini Emanuele⁵^ORCID,Albrecht Beate¹,Baquero‐Montoya Carolina⁶⁷,Bohring Axel⁸,Bramswig Nuria C.¹,Busche Andreas⁸,Dalski Andreas³,Guo Yiran⁹,Hanker Britta³,Hellenbroich Yorck³,Horn Denise¹⁰^ORCID,Innes A. Micheil¹¹^ORCID,Leoni Chiara¹²^ORCID,Li Yun R.⁹¹³,Lynch Sally Ann¹⁴^ORCID,Mariani Milena¹⁵^ORCID,Medne Livija¹⁶¹⁷,Mikat Barbara¹,Milani Donatella¹⁸^ORCID,Onesimo Roberta¹²^ORCID,Ortiz‐Gonzalez Xilma¹⁹²⁰^ORCID,Prott Eva Christina¹²¹,Reutter Heiko²²²³^ORCID,Rossier Eva²⁴²⁵,Selicorni Angelo¹⁵,Wieacker Peter⁸,Wilkens Alisha¹⁶,Wieczorek Dagmar²⁶^ORCID,Zackai Elaine H.¹⁶¹⁷,Zampino Giuseppe¹²,Zirn Birgit²⁵,Hakonarson Hakon⁹¹⁷^ORCID,Deardorff Matthew A.²⁷²⁸,Gillessen‐Kaesbach Gabriele³,Kaiser Frank J.¹²⁹

Affiliation:

1. Institut für Humangenetik Universitätsklinikum Essen, Universität Duisburg‐Essen Essen Germany

2. Department of Internal Medicine Thomas Jefferson University Hospital Philadelphia Pennsylvania USA

3. Institut für Humangenetik Universität zu Lübeck Lübeck Germany

4. Genetica Medica, Dipartimento di Scienze della Salute Università degli Studi di Milano Milan Italy

5. Laboratory of Medical Genetics Ospedale Pediatrico Bambino Gesù, IRCCS Rome Italy

6. Department of Pediatrics Hospital Pablo Tobón Uribe Medellín Colombia

7. Genetics Unit Sura Ayudas Diagnosticas Medellín Colombia

8. Institut für Humangenetik Westfälische Wilhelms‐Universität Münster Germany

9. Center for Applied Genomics and Center for Data Driven Discovery in Biomedicine Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

10. Institute of Medical and Human Genetics Charité‐Universitätsmedizin Berlin Berlin Germany

11. Department of Medical Genetics and Alberta Children's Hospital Research Institute University of Calgary Calgary Alberta Canada

12. Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario A. Gemelli IRCCS Rome Italy

13. Medical Scientist Training Program University of Pennsylvania, Perelman School of Medicine Philadelphia Pennsylvania USA

14. Department of Clinical Genetics Children's Health Ireland (CHI) at Crumlin Dublin Ireland

15. Centro Fondazione Mariani per il Bambino Fragile ASST‐Lariana Sant'Anna Hospital Department of Pediatrics San Fermo della Battaglia (Como) Italy

16. Division of Human Genetics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

17. Department of Pediatrics, Children's Hospital of Philadelphia and Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania USA

18. Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico Milano Milan Italy

19. Department of Pediatrics, Division of Neurology, Epilepsy Neurogenetics Initiative Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

20. Department of Neurology, Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania USA

21. Institut für Praenatale Medizin & Humangenetik Wuppertal Germany

22. Institute of Human Genetics University Hospital of Bonn Bonn Germany

23. Department of Neonatology and Pediatric Intensive Care University Hospital of Bonn Bonn Germany

24. Institut für Medizinische Genetik und Angewandte Genomik Universität Tübingen Tübingen Germany

25. Genetikum Stuttgart Genetic Counselling and Diagnostics Stuttgart Germany

26. Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf Heinrich‐Heine‐University Düsseldorf Düsseldorf Germany

27. Department of Pathology and Laboratory Medicine and Pediatrics Children's Hospital Los Angeles Los Angeles California USA

28. Keck School of Medicine University of Southern California Los Angeles California USA

29. Essener Zentrum für Seltene Erkrankungen (EZSE) Universitätsmedizin Essen Essen Germany

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13977

Reference55 articles.

1. Characterization of transcriptional regulatory domains of ankyrin repeat cofactor-1

2. Ankyrin repeats-containing cofactors interact with ADA3 and modulate its co-activator function

3. Identification of ANKRD11 as a p53 coactivator

4. Ankrd11 Is a Chromatin Regulator Involved in Autism that Is Essential for Neural Development

5. Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

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