Filges I - Search Results

1

Fetal arthrogryposis: Challenges and perspectives for prenatal detection and management.

Filges I, Tercanli S, Hall JG. Filges I, et al. Am J Med Genet C Semin Med Genet. 2019 Sep;181(3):327-336. doi: 10.1002/ajmg.c.31723. Epub 2019 Jul 18. Am J Med Genet C Semin Med Genet. 2019. PMID: 31318155 Review.

2

aCGH on chorionic villi mirrors the complexity of fetoplacental mosaicism in prenatal diagnosis.

Filges I, Kang A, Klug V, Wenzel F, Heinimann K, Tercanli S, Miny P. Filges I, et al. Prenat Diagn. 2011 May;31(5):473-8. doi: 10.1002/pd.2721. Epub 2011 Feb 24. Prenat Diagn. 2011. PMID: 21351283

3

Fetal polydactyly: a study of 24 cases ascertained by prenatal sonography.

Filges I, Kang A, Hench J, Wenzel F, Bruder E, Miny P, Tercanli S. Filges I, et al. J Ultrasound Med. 2011 Jul;30(7):1021-9. doi: 10.7863/jum.2011.30.7.1021. J Ultrasound Med. 2011. PMID: 21705736

4

TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability.

Sidler JA, Filges I, Boesch N, Ramelli GP, Röthlisberger B, Huber AR, Tercanli S, Bronz L, Miny P, Heinimann K. Sidler JA, et al. Among authors: filges i. Clin Dysmorphol. 2012 Apr;21(2):87-90. doi: 10.1097/MCD.0b013e32834e9248. Clin Dysmorphol. 2012. PMID: 22127049 No abstract available.

5

We are failing to identify disorders of fetal movement--why?

Filges I, Hall JG. Filges I, et al. Prenat Diagn. 2012 Oct;32(10):919-20. doi: 10.1002/pd.3944. Epub 2012 Jul 30. Prenat Diagn. 2012. PMID: 22847820 No abstract available.

6

Array comparative genomic hybridization in prenatal diagnosis of first trimester pregnancies at high risk for chromosomal anomalies.

Filges I, Kang A, Klug V, Wenzel F, Heinimann K, Tercanli S, Miny P. Filges I, et al. Mol Cytogenet. 2012 Sep 17;5(1):38. doi: 10.1186/1755-8166-5-38. Mol Cytogenet. 2012. PMID: 22979998 Free PMC article.

7

Failure to identify antenatal multiple congenital contractures and fetal akinesia--proposal of guidelines to improve diagnosis.

Filges I, Hall JG. Filges I, et al. Prenat Diagn. 2013 Jan;33(1):61-74. doi: 10.1002/pd.4011. Prenat Diagn. 2013. PMID: 23296716 Review.

8

Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.

Filges I, Nosova E, Bruder E, Tercanli S, Townsend K, Gibson WT, Röthlisberger B, Heinimann K, Hall JG, Gregory-Evans CY, Wasserman WW, Miny P, Friedman JM. Filges I, et al. Clin Genet. 2014 Sep;86(3):220-8. doi: 10.1111/cge.12301. Epub 2013 Nov 18. Clin Genet. 2014. PMID: 24128419

9

An Appeal for Ultrasound and Current Guidelines.

Tercanli S, Filges I. Tercanli S, et al. Among authors: filges i. Ultraschall Med. 2015 Oct;36(5):424-6. doi: 10.1055/s-0035-1553777. Epub 2015 Oct 15. Ultraschall Med. 2015. PMID: 26468769 No abstract available.

10

Increased Fetal Nuchal Translucency - Also a Risk for a Rare Submicroscopic Chromosomal Abnormalities.

Tercanli S, Miny P, Filges I. Tercanli S, et al. Among authors: filges i. Ultraschall Med. 2015 Oct;36(5):419-20. doi: 10.1055/s-0035-1552269. Ultraschall Med. 2015. PMID: 26759849 English, German. No abstract available.

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