M. Trimborn

发表

Inter-laboratory study on standardized MPS libraries: evaluation of performance, concordance, and sensitivity using mixtures and degraded DNA

W. Parson, L. Roewer, T. Sijen, 2019, International Journal of Legal Medicine.

Establishment of a Mouse Model with Misregulated Chromosome Condensation due to Defective Mcph1 Function

H. Ropers, K. Sperling, D. Schindler, 2010, PloS one.

Karyotyping of human chondrocytes in scaffold-assisted cartilage tissue engineering.

M. Endres, C. Kaps, L. Morawietz, 2012, Acta biomaterialia.

Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings.

D. Horn, S. Mundlos, M. Spielmann, 2011, European journal of medical genetics.

A Novel MCPH 1 Isoform Complements the Defective Chromosome Condensation of Human MCPH 1-Deficient Cells

D. Schindler, Josephine Purps, H. Hanenberg, 2012 .

A Novel MCPH1 Isoform Complements the Defective Chromosome Condensation of Human MCPH1-Deficient Cells

D. Schindler, Josephine Purps, H. Hanenberg, 2012, PloS one.

De novo 9 Mb deletion of 6q23.2q24.1 disrupting the gene EYA4 in a patient with sensorineural hearing loss, cardiac malformation, and mental retardation.

S. Mundlos, E. Klopocki, L. Graul-Neumann, 2009, European journal of medical genetics.

Chromosome structure deficiencies in MCPH1 syndrome

T. Hirano, H. Neitzel, M. Arroyo, 2015, Chromosoma.

Misregulated Chromosome Condensation in MCPH1 Primary Microcephaly is Mediated by Condensin II

T. Hirano, D. Schindler, H. Neitzel, 2006, Cell cycle.

Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4

D. Horn, S. Mundlos, E. Klopocki, 2012, European Journal of Human Genetics.

MCPH1 regulates chromosome condensation and shaping as a composite modulator of condensin II

T. Hirano, D. Schindler, T. Ono, 2011, The Journal of cell biology.

Mutations in microcephalin cause aberrant regulation of chromosome condensation.

Hussain Jafri, Karl Sperling, André Reis, 2004, American journal of human genetics.

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

P. Robinson, D. Mitter, K. Sperling, 2012, Molecular Syndromology.

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

P. Robinson, S. Mundlos, P. Krawitz, 2011, Cell cycle.

Fetal 46,XX/69,XXY mixoploidy: origin and confirmation by analysis of fetal urine cells

R. Wegner, R. Becker, M. Stumm, 2009, Prenatal diagnosis.

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

K. Sperling, D. Schindler, H. Tönnies, 2002, American journal of human genetics.

MCPH1 patient cells exhibit delayed release from DNA damage-induced G2/M checkpoint arrest

T. Hirano, D. Schindler, Daisuke Yamashita, 2010, Cell cycle.

Human Chromosomes: Structural and Functional Aspects

H. Neitzel, M. Trimborn, 2007 .

1 Human Chromosomes : Structural and Functional Aspects

H. Neitzel, M. Trimborn, 2007 .

Prenatal diagnosis and molecular cytogenetic characterisation of a small de novo interstitial duplication 16q11.2‐q13

R. Wegner, H. Tönnies, H. Neitzel, 2006, Prenatal diagnosis.

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

H. Tönnies, M. Trimborn, A. Grueters, 2004, Cytogenetic and Genome Research.

Chromosome structure deficiencies in MCPH1 syndrome

T. Hirano, H. Neitzel, M. Arroyo, 2015, Chromosoma.

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

K. Sperling, D. Schindler, A. Jackson, 2005, Human mutation.

Prenatal Diagnosis and Molecular Cytogenetic Characterization of an Unusual Complex Structural Rearrangement in a Pregnancy Following Intracytoplasmic Sperm Injection (ICSI)

T. Liehr, H. Tönnies, H. Neitzel, 2005, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.

MCPH1 regulates chromosome condensation and shaping as a composite modulator of condensin II

T. Hirano, D. Schindler, T. Ono, 2011, The Journal of cell biology.

MCPH1, mutated in primary microcephaly, is required for efficient chromosome alignment during mitosis

D. J. Clarke, R. Kuriyama, M. Arroyo, 2017, Scientific Reports.