Burfeind P - Search Results

1

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. Among authors: burfeind p. Clin Genet. 2009 May;75(5):473-9. doi: 10.1111/j.1399-0004.2009.01151.x. Clin Genet. 2009. PMID: 19475719

2

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. Among authors: burfeind p. 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

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. Among authors: burfeind p. 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

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. Among authors: burfeind p. 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

5

Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?

Shoukier M, Klein N, Auber B, Wickert J, Schröder J, Zoll B, Burfeind P, Bartels I, Alsat EA, Lingen M, Grzmil P, Schulze S, Keyser J, Weise D, Borchers M, Hobbiebrunken E, Röbl M, Gärtner J, Brockmann K, Zirn B. Shoukier M, et al. Among authors: burfeind p. Clin Genet. 2013 Jan;83(1):53-65. doi: 10.1111/j.1399-0004.2012.01850.x. Epub 2012 Feb 21. Clin Genet. 2013. PMID: 22283495

6

Prenatal DNA diagnosis of Noonan syndrome in a fetus with massive hygroma colli, pleural effusion and ascites.

Schlüter G, Steckel M, Schiffmann H, Harms K, Viereck V, Emons G, Burfeind P, Pauer HU. Schlüter G, et al. Among authors: burfeind p. Prenat Diagn. 2005 Jul;25(7):574-6. doi: 10.1002/pd.1189. Prenat Diagn. 2005. PMID: 16032767

7

PHF5A represents a bridge protein between splicing proteins and ATP-dependent helicases and is differentially expressed during mouse spermatogenesis.

Rzymski T, Grzmil P, Meinhardt A, Wolf S, Burfeind P. Rzymski T, et al. Among authors: burfeind p. Cytogenet Genome Res. 2008;121(3-4):232-44. doi: 10.1159/000138890. Epub 2008 Aug 29. Cytogenet Genome Res. 2008. PMID: 18758164

8

The putative peroxisomal gene Pxt1 is exclusively expressed in the testis.

Grzmil P, Burfeind C, Preuss T, Dixkens C, Wolf S, Engel W, Burfeind P. Grzmil P, et al. Among authors: burfeind p, burfeind c. Cytogenet Genome Res. 2007;119(1-2):74-82. doi: 10.1159/000109622. Epub 2007 Dec 14. Cytogenet Genome Res. 2007. PMID: 18160785

9

A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome.

Auber B, Burfeind P, Herold S, Schoner K, Simson G, Rauskolb R, Rehder H. Auber B, et al. Among authors: burfeind p. Clin Genet. 2007 Nov;72(5):454-9. doi: 10.1111/j.1399-0004.2007.00880.x. Clin Genet. 2007. PMID: 17935508

10

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: burfeind p. Mol Cytogenet. 2018 Dec 29;11:62. doi: 10.1186/s13039-018-0410-4. eCollection 2018. Mol Cytogenet. 2018. PMID: 30619508 Free PMC article.

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