Trimborn M - Search Results

1

Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin.

Ghani-Kakhki M, Robinson PN, Morlot S, Mitter D, Trimborn M, Albrecht B, Varon R, Sperling K, Neitzel H. Ghani-Kakhki M, et al. Among authors: trimborn m. Mol Syndromol. 2012 Jun;3(1):6-13. doi: 10.1159/000338975. Epub 2012 Jun 13. Mol Syndromol. 2012. PMID: 22855649 Free PMC article.

2

The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype.

Trimborn M, Richter R, Sternberg N, Gavvovidis I, Schindler D, Jackson AP, Prott EC, Sperling K, Gillessen-Kaesbach G, Neitzel H. Trimborn M, et al. Hum Mutat. 2005 Nov;26(5):496. doi: 10.1002/humu.9382. Hum Mutat. 2005. PMID: 16211557

3

Misregulated chromosome condensation in MCPH1 primary microcephaly is mediated by condensin II.

Trimborn M, Schindler D, Neitzel H, Hirano T. Trimborn M, et al. Cell Cycle. 2006 Feb;5(3):322-6. doi: 10.4161/cc.5.3.2412. Epub 2006 Feb 1. Cell Cycle. 2006. PMID: 16434882

4

Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly.

Marchal JA, Ghani M, Schindler D, Gavvovidis I, Winkler T, Esquitino V, Sternberg N, Busche A, Krawitz P, Hecht J, Robinson P, Mundlos S, Graul-Neumann L, Sperling K, Trimborn M, Neitzel H. Marchal JA, et al. Among authors: trimborn m. Cell Cycle. 2011 Sep 1;10(17):2967-77. doi: 10.4161/cc.10.17.16871. Epub 2011 Sep 1. Cell Cycle. 2011. PMID: 21857152

5

Chromosome structure deficiencies in MCPH1 syndrome.

Arroyo M, Trimborn M, Sánchez A, Hirano T, Neitzel H, Marchal JA. Arroyo M, et al. Among authors: trimborn m. Chromosoma. 2015 Dec;124(4):491-501. doi: 10.1007/s00412-015-0512-2. Epub 2015 Apr 7. Chromosoma. 2015. PMID: 25845520

6

Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive condition.

Neitzel H, Neumann LM, Schindler D, Wirges A, Tönnies H, Trimborn M, Krebsova A, Richter R, Sperling K. Neitzel H, et al. Among authors: trimborn m. Am J Hum Genet. 2002 Apr;70(4):1015-22. doi: 10.1086/339518. Epub 2002 Feb 20. Am J Hum Genet. 2002. PMID: 11857108 Free PMC article.

7

Mutations in microcephalin cause aberrant regulation of chromosome condensation.

Trimborn M, Bell SM, Felix C, Rashid Y, Jafri H, Griffiths PD, Neumann LM, Krebs A, Reis A, Sperling K, Neitzel H, Jackson AP. Trimborn M, et al. Am J Hum Genet. 2004 Aug;75(2):261-6. doi: 10.1086/422855. Epub 2004 Jun 15. Am J Hum Genet. 2004. PMID: 15199523 Free PMC article.

8

Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 function.

Trimborn M, Ghani M, Walther DJ, Dopatka M, Dutrannoy V, Busche A, Meyer F, Nowak S, Nowak J, Zabel C, Klose J, Esquitino V, Garshasbi M, Kuss AW, Ropers HH, Mueller S, Poehlmann C, Gavvovidis I, Schindler D, Sperling K, Neitzel H. Trimborn M, et al. PLoS One. 2010 Feb 16;5(2):e9242. doi: 10.1371/journal.pone.0009242. PLoS One. 2010. PMID: 20169082 Free PMC article.

9

First small supernumerary ring chromosome carrying 10q euchromatin in a patient with mild phenotype characterized by molecular cytogenetic techniques and review of the literature.

Trimborn M, Grueters A, Neitzel H, Tönnies H. Trimborn M, et al. Cytogenet Genome Res. 2005;108(4):278-82. doi: 10.1159/000081524. Cytogenet Genome Res. 2005. PMID: 15627745 Review.

10

Prenatal diagnosis and molecular cytogenetic characterization of an unusual complex structural rearrangement in a pregnancy following intracytoplasmic sperm injection (ICSI).

Trimborn M, Liehr T, Belitz B, Pfeiffer L, Varon R, Neitzel H, Tönnies H. Trimborn M, et al. J Histochem Cytochem. 2005 Mar;53(3):351-4. doi: 10.1369/jhc.4B6412.2005. J Histochem Cytochem. 2005. PMID: 15750017

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