Meins M - 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: meins m. Cytogenet Genome Res. 2002;98(1):1-8. doi: 10.1159/000068533. Cytogenet Genome Res. 2002. PMID: 12584434 Review.

2

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. Cytogenet Genome Res. 2002;97(3-4):254-60. doi: 10.1159/000066619. Cytogenet Genome Res. 2002. PMID: 12438720

3

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. 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

4

10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences.

Liehr T, Stumm M, Wegner RD, Bhatt S, Hickmann P, Patsalis PC, Meins M, Morlot S, Klaschka V, Ewers E, Hinreiner S, Mrasek K, Kosyakova N, Cai WW, Cheung SW, Weise A. Liehr T, et al. Among authors: meins m. Cytogenet Genome Res. 2009;124(1):102-5. doi: 10.1159/000200094. Epub 2009 Apr 15. Cytogenet Genome Res. 2009. PMID: 19372675

5

Five novel locations of Neocentromeres in human: 18q22.1, Xq27.1∼27.2, Acro p13, Acro p12, and heterochromatin of unknown origin.

Klein E, Rocchi M, Ovens-Raeder A, Kosyakova N, Weise A, Ziegler M, Meins M, Morlot S, Fischer W, Volleth M, Polityko A, Ogilvie CM, Kraus C, Liehr T. Klein E, et al. Among authors: meins m. Cytogenet Genome Res. 2012;136(3):163-6. doi: 10.1159/000336648. Epub 2012 Mar 1. Cytogenet Genome Res. 2012. PMID: 22377933

6

MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin.

Trappe R, Laccone F, Cobilanschi J, Meins M, Huppke P, Hanefeld F, Engel W. Trappe R, et al. Among authors: meins m. Am J Hum Genet. 2001 May;68(5):1093-101. doi: 10.1086/320109. Epub 2001 Apr 17. Am J Hum Genet. 2001. PMID: 11309679 Free PMC article.

7

Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome.

Meins M, Burfeind P, Motsch S, Trappe R, Bartmus D, Langer S, Speicher MR, Mühlendyck H, Bartels I, Zoll B. Meins M, et al. J Med Genet. 2003 May;40(5):e62. doi: 10.1136/jmg.40.5.e62. J Med Genet. 2003. PMID: 12746416 Free PMC article. Review. No abstract available.

8

A novel GFAP mutation and disseminated white matter lesions: adult Alexander disease?

Brockmann K, Meins M, Taubert A, Trappe R, Grond M, Hanefeld F. Brockmann K, et al. Among authors: meins m. Eur Neurol. 2003;50(2):100-5. doi: 10.1159/000072507. Eur Neurol. 2003. PMID: 12944715

9

Novel case of dup(3q) syndrome due to a de novo interstitial duplication 3q24-q26.31 with minimal overlap to the dup(3q) critical region.

Meins M, Hagh JK, Gerresheim F, Einhoff E, Olschewski H, Strehl H, Epplen JT. Meins M, et al. Am J Med Genet A. 2005 Jan 1;132A(1):84-9. doi: 10.1002/ajmg.a.30384. Am J Med Genet A. 2005. PMID: 15551338

10

Evaluation of Cx26/GJB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and -493del10.

Zoll B, Petersen L, Lange K, Gabriel P, Kiese-Himmel C, Rausch P, Berger J, Pasche B, Meins M, Gross M, Berger R, Kruse E, Kunz J, Sperling K, Laccone F. Zoll B, et al. Among authors: meins m. Hum Mutat. 2003 Jan;21(1):98. doi: 10.1002/humu.9098. Hum Mutat. 2003. PMID: 12497637

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