17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature-Reference-Cited by-同舟云学术

17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature

Published:2016-07-13 Issue:11 Volume:170 Page:2934-2942
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Rasmussen Maria¹,Vestergaard Else Marie¹,Graakjaer Jesper²,Petkov Yanko³,Bache Iben⁴⁵,Fagerberg Christina⁶,Kibaek Maria⁷,Svaneby Dea²,Petersen Olav Bjørn⁸,Brasch-Andersen Charlotte⁶,Sunde Lone¹⁹

Affiliation:

1. Department of Clinical Genetics; Aarhus University Hospital; Skejby Denmark

2. Department of Clinical Genetics; Vejle Hospital; Denmark

3. Department of Pediatrics; Esbjerg Hospital; Denmark

4. Department of Clinical Genetics; Rigshospitalet; Denmark

5. Department of Cellular and Molecular Medicine; Wilhelm Johannsen Centre for Functional Genome Research; University of Copenhagen; Denmark

6. Department of Clinical Genetics; Odense University Hospital; Denmark

7. Department of Pediatrics; Odense University Hospital; Denmark

8. Department of Gynecology and Obstetrics; Aarhus University Hospital; Skejby Denmark

9. Department of Biomedicine; Aarhus University; Aarhus Denmark

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference27 articles.

1. Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5;Bellanne-Chantelot;Diabetes,2005

2. Recurrent microdeletion at 17q12 as a cause of mayer-rokitansky-kuster-hauser (MRKH) syndrome: Two case reports;Bernardini;Orphanet J Rare Dis,2009

3. Expanding the phenotype associated with 17q12 duplication: Case report and review of the literature;Bierhals;Am J Med Genet Part A,2013

4. Complex autism spectrum disorder in a patient with a 17q12 microduplication;Brandt;Am J Med Genet Part A,2012

5. 17q12 microdeletion syndrome: Three patients illustrating the phenotypic spectrum;Dixit;Am J Med Genet Part A,2012

Cited by 52 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Impact of copy number variants in epilepsy plus neurodevelopment disorders;Seizure: European Journal of Epilepsy;2024-04

2. Fetal hyperechoic kidneys: Diagnostic considerations and genetic testing strategies;Prenatal Diagnosis;2024-01-27

3. A case of 17q12 deletion syndrome characterized by hypokalemia and hypomagnesemia;2023-12-26

4. Feasibility of Optical Genome Mapping from Placental and Umbilical Cord Sampled after Spontaneous or Therapeutic Pregnancy Termination;Diagnostics;2023-11-30

5. Hypersensitivity to Psychotropic Medications in a Patient With 17q12 Microdeletion Syndrome;Journal of Clinical Psychopharmacology;2023-11-29