Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome-Reference-Cited by-同舟云学术

Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome

Published:2016-09-27 Issue:10 Volume:36 Page:961-965
ISSN:0197-3851
Container-title:Prenatal Diagnosis
language:en
Short-container-title:Prenat Diagn

Author:

Kehrer Christina¹,Hoischen Alexander²,Menkhaus Ralf³,Schwab Eva⁴,Müller Andreas⁵,Kim Sarah⁶,Kreiß Martina⁶,Weitensteiner Valerie⁶,Hilger Alina⁶,Berg Christoph¹,Geipel Anne¹,Reutter Heiko⁵⁶,Gembruch Ulrich¹

Affiliation:

1. Department of Obstetrics and Prenatal Medicine; University of Bonn; Bonn Germany

2. Department of Human Genetics; Radboud University Medical Center; Nijmegen The Netherlands

3. Center for Assisted Reproduction and Prenatal Diagnosis; Minden Germany

4. Medical Office for Human Genetics; Wiesbaden Germany

5. Department of Neonatology and Pediatric Intensive Care; University of Bonn; Bonn Germany

6. Institute of Human Genetics; University of Bonn; Bonn Germany

Publisher

Wiley

Subject

Genetics (clinical),Obstetrics and Gynecology

Reference22 articles.

1. Cardiac anomalies in the Simpson-Golabi-Behmel syndrome;Lin;Am J Med Genet,1999

2. Simpson Golabi Behmel syndrome: progress toward understanding the molecular basis for overgrowth, malformation, and cancer predisposition;DeBaun;Mol Genet Metab,2001

3. GPC4, the gene for human K-glypican, flanks GPC3 on xq26: deletion of the GPC3-GPC4 gene cluster in one family with Simpson-Golabi-Behmel syndrome;Veugelers;Genomics,1998

4. Novel duplication in glypican-4 as an apparent cause of Simpson-Golabi-Behmel syndrome;Waterson;Am J Med Genet A,2010

5. Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis;Terespolsky;Am J Med Genet,1995

Cited by 18 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. Syndromic congenital diaphragmatic hernia: Current incidence and outcome. Analysis from the congenital diaphragmatic hernia study group registry;Prenatal Diagnosis;2023-07-14

2. Prenatal diagnosis of Simpson–Golabi–Behmel syndrome type 1 with an 814 kb Xq26.2 deletion with the initial presentation of a thick nuchal fold;Taiwanese Journal of Obstetrics and Gynecology;2023-01

3. OFD1 : One gene, several disorders;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2022-02-02

4. Prenatal case of Simpson–Golabi–Behmel syndrome with a de novo 370Kb‐sized microdeletion of Xq26.2 compassing partial GPC3 gene and review;Molecular Genetics & Genomic Medicine;2021-07-22

5. A new human adipocyte model with PTEN haploinsufficiency;Adipocyte;2020-01-01