Filges I - Search Results

1

Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication.

Filges I, Sparagana S, Sargent M, Selby K, Schlade-Bartusiak K, Lueder GT, Robichaux-Viehoever A, Schlaggar BL, Shimony JS, Shinawi M. Filges I, et al. Am J Med Genet A. 2014 Aug;164A(8):2003-12. doi: 10.1002/ajmg.a.36605. Epub 2014 May 28. Am J Med Genet A. 2014. PMID: 24891046

2

Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients.

Martinet D, Filges I, Besuchet Schmutz N, Morris MA, Gaide AC, Dahoun S, Bottani A, Addor MC, Antonarakis SE, Beckmann JS, Béna F. Martinet D, et al. Among authors: filges i. Am J Med Genet A. 2008 Aug 15;146A(16):2094-102. doi: 10.1002/ajmg.a.32414. Am J Med Genet A. 2008. PMID: 18629875

3

Mosaic ring chromosome 8: clinical and array-CGH findings in partial trisomy 8.

Filges I, Röthlisberger B, Wenzel F, Heinimann K, Huber AR, Miny P. Filges I, et al. Am J Med Genet A. 2008 Nov 1;146A(21):2837-41. doi: 10.1002/ajmg.a.32520. Am J Med Genet A. 2008. PMID: 18924172 No abstract available.

4

Familial 14.5 Mb interstitial deletion 13q21.1-13q21.33: clinical and array-CGH study of a benign phenotype in a three-generation family.

Filges I, Röthlisberger B, Noppen C, Boesch N, Wenzel F, Necker J, Binkert F, Huber AR, Heinimann K, Miny P. Filges I, et al. Am J Med Genet A. 2009 Feb;149A(2):237-41. doi: 10.1002/ajmg.a.32622. Am J Med Genet A. 2009. PMID: 19161139

5

Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome.

Filges I, Röthlisberger B, Boesch N, Weber P, Wenzel F, Huber AR, Heinimann K, Miny P. Filges I, et al. Am J Med Genet A. 2010 Apr;152A(4):987-93. doi: 10.1002/ajmg.a.33330. Am J Med Genet A. 2010. PMID: 20358614

6

Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome.

Filges I, Shimojima K, Okamoto N, Röthlisberger B, Weber P, Huber AR, Nishizawa T, Datta AN, Miny P, Yamamoto T. Filges I, et al. J Med Genet. 2011 Feb;48(2):117-22. doi: 10.1136/jmg.2010.084582. Epub 2010 Oct 30. J Med Genet. 2011. PMID: 21037274

7

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

8

Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement.

Al-Kateb H, Khanna G, Filges I, Hauser N, Grange DK, Shen J, Smyser CD, Kulkarni S, Shinawi M. Al-Kateb H, et al. Among authors: filges i. Am J Med Genet A. 2014 May;164A(5):1118-26. doi: 10.1002/ajmg.a.36401. Epub 2014 Jan 23. Am J Med Genet A. 2014. PMID: 24458548

9

Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.

Chaudhry A, Noor A, Degagne B, Baker K, Bok LA, Brady AF, Chitayat D, Chung BH, Cytrynbaum C, Dyment D, Filges I, Helm B, Hutchison HT, Jeng LJ, Laumonnier F, Marshall CR, Menzel M, Parkash S, Parker MJ; DDD Study; Raymond LF, Rideout AL, Roberts W, Rupps R, Schanze I, Schrander-Stumpel CT, Speevak MD, Stavropoulos DJ, Stevens SJ, Thomas ER, Toutain A, Vergano S, Weksberg R, Scherer SW, Vincent JB, Carter MT. Chaudhry A, et al. Among authors: filges i. Clin Genet. 2015 Sep;88(3):224-33. doi: 10.1111/cge.12482. Epub 2014 Oct 14. Clin Genet. 2015. PMID: 25131214

10

Expanding the KIF4A-associated phenotype.

Kalantari S, Carlston C, Alsaleh N, Abdel-Salam GMH, Alkuraya F, Kato M, Matsumoto N, Miyatake S, Yamamoto T, Fares-Taie L, Rozet JM, Chassaing N, Vincent-Delorme C, Kang-Bellin A, McWalter K, Bupp C, Palen E, Wagner MD, Niceta M, Cesario C, Milone R, Kaplan J, Wadman E, Dobyns WB, Filges I. Kalantari S, et al. Among authors: filges i. Am J Med Genet A. 2021 Dec;185(12):3728-3739. doi: 10.1002/ajmg.a.62443. Epub 2021 Aug 3. Am J Med Genet A. 2021. PMID: 34346154 Free PMC article.

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