Pauli S - Search Results

1

Identification and characterization of FAM124B as a novel component of a CHD7 and CHD8 containing complex.

Batsukh T, Schulz Y, Wolf S, Rabe TI, Oellerich T, Urlaub H, Schaefer IM, Pauli S. Batsukh T, et al. Among authors: pauli s. PLoS One. 2012;7(12):e52640. doi: 10.1371/journal.pone.0052640. Epub 2012 Dec 21. PLoS One. 2012. PMID: 23285124 Free PMC article.

2

CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome.

Batsukh T, Pieper L, Koszucka AM, von Velsen N, Hoyer-Fender S, Elbracht M, Bergman JE, Hoefsloot LH, Pauli S. Batsukh T, et al. Among authors: pauli s. Hum Mol Genet. 2010 Jul 15;19(14):2858-66. doi: 10.1093/hmg/ddq189. Epub 2010 May 7. Hum Mol Genet. 2010. PMID: 20453063

3

CHARGE and Kabuki syndromes: a phenotypic and molecular link.

Schulz Y, Freese L, Mänz J, Zoll B, Völter C, Brockmann K, Bögershausen N, Becker J, Wollnik B, Pauli S. Schulz Y, et al. Among authors: pauli s. Hum Mol Genet. 2014 Aug 15;23(16):4396-405. doi: 10.1093/hmg/ddu156. Epub 2014 Apr 4. Hum Mol Genet. 2014. PMID: 24705355

4

CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance.

Schulz Y, Wehner P, Opitz L, Salinas-Riester G, Bongers EM, van Ravenswaaij-Arts CM, Wincent J, Schoumans J, Kohlhase J, Borchers A, Pauli S. Schulz Y, et al. Among authors: pauli s. Hum Genet. 2014 Aug;133(8):997-1009. doi: 10.1007/s00439-014-1444-2. Epub 2014 Apr 13. Hum Genet. 2014. PMID: 24728844

5

Soft tissue perineurioma and other unusual tumors in a patient with neurofibromatosis type 1.

Schaefer IM, Ströbel P, Thiha A, Sohns JM, Mühlfeld C, Küffer S, Felmerer G, Stepniewski A, Pauli S, Agaimy A. Schaefer IM, et al. Among authors: pauli s. Int J Clin Exp Pathol. 2013 Nov 15;6(12):3003-8. eCollection 2013. Int J Clin Exp Pathol. 2013. PMID: 24294391 Free PMC article.

6

Uniparental Trisomy of a Mutated HRAS Proto-Oncogene in Embryonal Rhabdomyosarcoma of a Patient With Costello Syndrome.

Menke J, Pauli S, Sigler M, Kühnle I, Shoukier M, Zoll B, Ganster C, Salinas-Riester G, Schaefer IM. Menke J, et al. Among authors: pauli s. J Clin Oncol. 2015 May 1;33(13):e62-5. doi: 10.1200/JCO.2013.49.6539. Epub 2014 Mar 17. J Clin Oncol. 2015. PMID: 24637993 No abstract available.

7

CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin.

Pauli S, von Velsen N, Burfeind P, Steckel M, Mänz J, Buchholz A, Borozdin W, Kohlhase J. Pauli S, et al. Clin Genet. 2012 Mar;81(3):234-9. doi: 10.1111/j.1399-0004.2011.01701.x. Epub 2011 May 27. Clin Genet. 2012. PMID: 21554267

8

CHARGEd with neural crest defects.

Pauli S, Bajpai R, Borchers A. Pauli S, et al. Am J Med Genet C Semin Med Genet. 2017 Dec;175(4):478-486. doi: 10.1002/ajmg.c.31584. Epub 2017 Oct 30. Am J Med Genet C Semin Med Genet. 2017. PMID: 29082625 Review.

9

CHARGE syndrome and related disorders: a mechanistic link.

Ufartes R, Grün R, Salinas G, Sitte M, Kahl F, Wong MTY, van Ravenswaaij-Arts CMA, Pauli S. Ufartes R, et al. Among authors: pauli s. Hum Mol Genet. 2021 Nov 16;30(23):2215-2224. doi: 10.1093/hmg/ddab183. Hum Mol Genet. 2021. PMID: 34230955

10

Proven germline mosaicism in a father of two children with CHARGE syndrome.

Pauli S, Pieper L, Häberle J, Grzmil P, Burfeind P, Steckel M, Lenz U, Michelmann HW. Pauli S, et al. Clin Genet. 2009 May;75(5):473-9. doi: 10.1111/j.1399-0004.2009.01151.x. Clin Genet. 2009. PMID: 19475719

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