Pauli S - Search Results

1

Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes.

Pauli S, Schmidt T, Funke R, Zoll B, Burfeind P, Dybowski U, Shoukier M, Bartels I. Pauli S, et al. Eur J Med Genet. 2012 Aug-Sep;55(8-9):480-4. doi: 10.1016/j.ejmg.2012.05.004. Epub 2012 Jun 4. Eur J Med Genet. 2012. PMID: 22677035

2

Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22.

Schnabel F, Smogavec M, Funke R, Pauli S, Burfeind P, Bartels I. Schnabel F, et al. Among authors: pauli s. Mol Cytogenet. 2018 Dec 29;11:62. doi: 10.1186/s13039-018-0410-4. eCollection 2018. Mol Cytogenet. 2018. PMID: 30619508 Free PMC article.

3

Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D.

Pauli S, Steinemann D, Dittmann K, Wienands J, Shoukier M, Möschner M, Burfeind P, Manukjan G, Göhring G, Escherich G. Pauli S, et al. Am J Med Genet A. 2012 Mar;158A(3):652-8. doi: 10.1002/ajmg.a.34439. Epub 2012 Feb 7. Am J Med Genet A. 2012. PMID: 22315187

4

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

5

De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome.

Ufartes R, Berger H, Till K, Salinas G, Sturm M, Altmüller J, Nürnberg P, Thiele H, Funke R, Apeshiotis N, Langen H, Wollnik B, Borchers A, Pauli S. Ufartes R, et al. Among authors: pauli s. Hum Genet. 2020 Nov;139(11):1363-1379. doi: 10.1007/s00439-020-02175-x. Epub 2020 May 18. Hum Genet. 2020. PMID: 32424618 Free PMC article.

6

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

7

Intragenic duplication of EHMT1 gene results in Kleefstra syndrome.

Schwaibold EM, Smogavec M, Hobbiebrunken E, Winter L, Zoll B, Burfeind P, Brockmann K, Pauli S. Schwaibold EM, et al. Among authors: pauli s. Mol Cytogenet. 2014 Oct 23;7(1):74. doi: 10.1186/s13039-014-0074-7. eCollection 2014. Mol Cytogenet. 2014. PMID: 25349628 Free PMC article.

8

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

9

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.

10

Novel fukutin mutations in limb-girdle muscular dystrophy type 2M with childhood onset.

Smogavec M, Zschüntzsch J, Kress W, Mohr J, Hellen P, Zoll B, Pauli S, Schmidt J. Smogavec M, et al. Among authors: pauli s. Neurol Genet. 2017 Jul 10;3(4):e167. doi: 10.1212/NXG.0000000000000167. eCollection 2017 Aug. Neurol Genet. 2017. PMID: 28785732 Free PMC article. No abstract available.

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