Burfeind P - Search Results

1

A novel family-specific translocation t(2;20)(p24.1;q13.1) associated with recurrent abortions: molecular characterization and segregation analysis in male meiosis.

Trappe R, Böhm D, Kohlhase J, Weise A, Liehr T, Essers G, Meins M, Zoll B, Bartels I, Burfeind P. Trappe R, et al. Among authors: burfeind p. Cytogenet Genome Res. 2002;98(1):1-8. doi: 10.1159/000068533. Cytogenet Genome Res. 2002. PMID: 12584434 Review.

2

Supernumerary small marker chromosome (SMC) and uniparental disomy 22 in a child with confined placental mosaicism of trisomy 22: trisomy rescue due to marker chromosome formation.

Bartels I, Schlueter G, Liehr T, von Eggeling F, Starke H, Glaubitz R, Burfeind P. Bartels I, et al. Among authors: burfeind p. Cytogenet Genome Res. 2003;101(2):103-5. doi: 10.1159/000074163. Cytogenet Genome Res. 2003. PMID: 14610348

3

A family with an inverted tandem duplication 5q22.1q23.2.

Schmidt T, Bartels I, Liehr T, Burfeind P, Zoll B, Shoukier M. Schmidt T, et al. Among authors: burfeind p. Cytogenet Genome Res. 2013;139(1):65-70. doi: 10.1159/000342914. Epub 2012 Oct 6. Cytogenet Genome Res. 2013. PMID: 23051634

4

Branchio-otic syndrome caused by a genomic rearrangement: clinical findings and molecular cytogenetic studies in a patient with a pericentric inversion of chromosome 8.

Schmidt T, Bierhals T, Kortüm F, Bartels I, Liehr T, Burfeind P, Shoukier M, Frank V, Bergmann C, Kutsche K. Schmidt T, et al. Among authors: burfeind p. Cytogenet Genome Res. 2014;142(1):1-6. doi: 10.1159/000355436. Epub 2013 Oct 11. Cytogenet Genome Res. 2014. PMID: 24135068

5

Partial trisomy of distal 19q detected by quantitative real-time PCR and FISH in a girl with mild facial dysmorphism, hypotonia and developmental delay.

Sauter SM, Böhm D, Bartels I, Burfeind P, Laccone FA, Neesen J, Wilken B, Liehr T, Zoll B. Sauter SM, et al. Among authors: burfeind p. Am J Med Genet A. 2007 May 15;143A(10):1091-9. doi: 10.1002/ajmg.a.31686. Am J Med Genet A. 2007. PMID: 17431920

6

First non-mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter --> q22.1::q22.1 --> pter) is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q- syndrome.

Meins M, Böhm D, Großmann A, Herting E, Fleckenstein B, Fauth C, Speicher MR, Schindler R, Zoll B, Bartels I, Burfeind P. Meins M, et al. Among authors: burfeind p. Am J Med Genet A. 2004 May 15;127A(1):58-64. doi: 10.1002/ajmg.a.20644. Am J Med Genet A. 2004. PMID: 15103719

7

Identification and characterization of murine Brunol4, a new member of the elav/bruno family.

Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Gläser B, Grzmil M, Burfeind P, Laccone F. Meins M, et al. Among authors: burfeind p. Cytogenet Genome Res. 2002;97(3-4):254-60. doi: 10.1159/000066619. Cytogenet Genome Res. 2002. PMID: 12438720

8

Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter --> p12.2)[10].

Sauter S, von Beust G, Burfeind P, Weise A, Starke H, Liehr T, Zoll B. Sauter S, et al. Among authors: burfeind p. Am J Med Genet A. 2003 Aug 1;120A(4):533-6. doi: 10.1002/ajmg.a.20089. Am J Med Genet A. 2003. PMID: 12884434

9

Molecular cytogenetic characterization of a de novo supernumerary ring chromosome 7 resulting in partial trisomy, tetrasomy, and hexasomy in a child with dysmorphic signs, congenital heart defect, and developmental delay.

von Beust G, Sauter SM, Liehr T, Burfeind P, Bartels I, Starke H, von Eggeling F, Zoll B. von Beust G, et al. Among authors: burfeind p. Am J Med Genet A. 2005 Aug 15;137(1):59-64. doi: 10.1002/ajmg.a.30835. Am J Med Genet A. 2005. PMID: 16007665 Review.

10

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

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