Fauth C - Search Results

1

A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.

Fauth C, Steindl K, Toutain A, Farrell S, Witsch-Baumgartner M, Karall D, Joset P, Böhm S, Baumer A, Maier O, Zschocke J, Weksberg R, Marshall CR, Rauch A. Fauth C, et al. Am J Med Genet A. 2016 Feb;170A(2):392-402. doi: 10.1002/ajmg.a.37452. Epub 2015 Nov 6. Am J Med Genet A. 2016. PMID: 26545172

2

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

Fauth C, Toutain A. Fauth C, et al. Prenat Diagn. 2017 Oct;37(10):1055-1056. doi: 10.1002/pd.5137. Prenat Diagn. 2017. PMID: 29057530 No abstract available.

3

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.

Baumann M, Giunta C, Krabichler B, Rüschendorf F, Zoppi N, Colombi M, Bittner RE, Quijano-Roy S, Muntoni F, Cirak S, Schreiber G, Zou Y, Hu Y, Romero NB, Carlier RY, Amberger A, Deutschmann A, Straub V, Rohrbach M, Steinmann B, Rostásy K, Karall D, Bönnemann CG, Zschocke J, Fauth C. Baumann M, et al. Among authors: fauth c. Am J Hum Genet. 2012 Feb 10;90(2):201-16. doi: 10.1016/j.ajhg.2011.12.004. Epub 2012 Jan 19. Am J Hum Genet. 2012. PMID: 22265013 Free PMC article.

4

Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy.

Krabichler B, Rostasy K, Baumann M, Karall D, Scholl-Bürgi S, Schwarzer C, Gautsch K, Spreiz A, Kotzot D, Zschocke J, Fauth C, Haberlandt E. Krabichler B, et al. Among authors: fauth c. Ann Hum Genet. 2012 Jul;76(4):326-31. doi: 10.1111/j.1469-1809.2012.00710.x. Epub 2012 May 21. Ann Hum Genet. 2012. PMID: 22606975

5

Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies.

Spreiz A, Haberlandt E, Baumann M, Baumgartner Sigl S, Fauth C, Gautsch K, Karall D, Janetschek C, Rostasy K, Scholl-Bürgi S, Zotter S, Utermann G, Zschocke J, Kotzot D. Spreiz A, et al. Among authors: fauth c. Clin Genet. 2014 Oct;86(4):361-6. doi: 10.1111/cge.12288. Epub 2013 Oct 28. Clin Genet. 2014. PMID: 24116836

6

Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype.

Frühmesser A, Haberlandt E, Judmaier W, Schinzel A, Utermann B, Erdel M, Fauth C, Utermann G, Zschocke J, Kotzot D. Frühmesser A, et al. Among authors: fauth c. Am J Med Genet A. 2012 Sep;158A(9):2239-44. doi: 10.1002/ajmg.a.35450. Epub 2012 Jul 20. Am J Med Genet A. 2012. PMID: 22821890

7

Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts.

Milev MP, Graziano C, Karall D, Kuper WFE, Al-Deri N, Cordelli DM, Haack TB, Danhauser K, Iuso A, Palombo F, Pippucci T, Prokisch H, Saint-Dic D, Seri M, Stanga D, Cenacchi G, van Gassen KLI, Zschocke J, Fauth C, Mayr JA, Sacher M, van Hasselt PM. Milev MP, et al. Among authors: fauth c. J Med Genet. 2018 Nov;55(11):753-764. doi: 10.1136/jmedgenet-2018-105441. Epub 2018 Aug 17. J Med Genet. 2018. PMID: 30120216

8

Combined Dup(7)(q22.1q32.2), Inv(7)(q31.31q31.33), and Ins(7;19)(q22.1;p13.2p13.2) in a 12-year-old boy with developmental delay and various dysmorphism.

Frühmesser A, Erdel M, Duba HC, Fauth C, Amberger A, Utermann G, Zschocke J, Kotzot D. Frühmesser A, et al. Among authors: fauth c. Eur J Med Genet. 2013 Jul;56(7):383-8. doi: 10.1016/j.ejmg.2013.04.003. Epub 2013 Apr 19. Eur J Med Genet. 2013. PMID: 23608969

9

Pre- and postnatal findings in trisomy 17 mosaicism.

Utermann B, Riegel M, Leistritz D, Karall T, Wisser J, Meisner L, Fauth C, Baldinger R, Johnson J, Erdel M, Taralczak M, Pauli RM, Baumer A, Schinzel A, Kotzot D. Utermann B, et al. Among authors: fauth c. Am J Med Genet A. 2006 Aug 1;140(15):1628-36. doi: 10.1002/ajmg.a.31319. Am J Med Genet A. 2006. PMID: 16802327

10

Phenotypic variability of a deletion and duplication 6q16.1 → q21 due to a paternal balanced ins(7;6)(p15;q16.1q21).

Spreiz A, Müller D, Zotter S, Albrecht U, Baumann M, Fauth C, Erdel M, Zschocke J, Utermann G, Kotzot D. Spreiz A, et al. Among authors: fauth c. Am J Med Genet A. 2010 Nov;152A(11):2762-7. doi: 10.1002/ajmg.a.33699. Am J Med Genet A. 2010. PMID: 20954245

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