Tönnies H - Search Results

1

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

Trimborn M, Wegner RD, Tönnies H, Sarioglu N, Albig M, Neitzel H. Trimborn M, et al. Among authors: tonnies h. Prenat Diagn. 2006 Mar;26(3):273-6. doi: 10.1002/pd.1396. Prenat Diagn. 2006. PMID: 16506262

2

Molecular cytogenetic characterisation of an interstitial deletion 12p detected by prenatal diagnosis.

Stumm M, Klopocki E, Gasiorek-Wiens A, Knoll U, Wirjadi D, Sarioglu N, Wegner RD, Tönnies H. Stumm M, et al. Among authors: tonnies h. Prenat Diagn. 2007 May;27(5):475-8. doi: 10.1002/pd.1703. Prenat Diagn. 2007. PMID: 17330228 Review.

3

Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region.

Horn D, Neitzel H, Tönnies H, Kalscheuer V, Kunze J, Hinkel GK, Bartsch O. Horn D, et al. Among authors: tonnies h. Am J Med Genet A. 2003 Mar 15;117A(3):236-44. doi: 10.1002/ajmg.a.10017. Am J Med Genet A. 2003. PMID: 12599186 Review.

4

Characterization of a supernumerary ring chromosome 1 mosaicism in two cell systems by molecular cytogenetic techniques and review of the literature.

Tönnies H, Neumann LM, Grüneberg B, Neitzel H. Tönnies H, et al. Am J Med Genet A. 2003 Aug 30;121A(2):163-7. doi: 10.1002/ajmg.a.20225. Am J Med Genet A. 2003. PMID: 12910498

5

Comparative genomic hybridization based strategy for the analysis of different chromosome imbalances detected in conventional cytogenetic diagnostics.

Tönnies H, Stumm M, Wegner RD, Chudoba I, Kalscheuer V, Neitzel H. Tönnies H, et al. Cytogenet Cell Genet. 2001;93(3-4):188-94. doi: 10.1159/000056983. Cytogenet Cell Genet. 2001. PMID: 11528111

6

Characterization of the first supernumerary tricentric ring chromosome 1 mosaicism by conventional and molecular cytogenetic techniques.

Tönnies H, Hennies HC, Spohr HL, Neitzel H. Tönnies H, et al. Cytogenet Genome Res. 2003;103(1-2):28-33. doi: 10.1159/000076285. Cytogenet Genome Res. 2003. PMID: 15004460

7

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. Among authors: tonnies h. Cytogenet Genome Res. 2005;108(4):278-82. doi: 10.1159/000081524. Cytogenet Genome Res. 2005. PMID: 15627745 Review.

8

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. Among authors: tonnies h. J Histochem Cytochem. 2005 Mar;53(3):351-4. doi: 10.1369/jhc.4B6412.2005. J Histochem Cytochem. 2005. PMID: 15750017

9

Molecular cytogenetic identification and characterization of a de novo supernumerary neocentromeric derivative chromosome 13.

Tonnies H, Gerlach A, Heineking B, Starke H, Neitzel H, Neumann LM. Tonnies H, et al. Cytogenet Genome Res. 2006;114(3-4):325-9. doi: 10.1159/000094221. Cytogenet Genome Res. 2006. PMID: 16954674

10

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: tonnies h. 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.

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