Tonnies H - Search Results

1

Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation.

Giglio S, Calvari V, Gregato G, Gimelli G, Camanini S, Giorda R, Ragusa A, Guerneri S, Selicorni A, Stumm M, Tonnies H, Ventura M, Zollino M, Neri G, Barber J, Wieczorek D, Rocchi M, Zuffardi O. Giglio S, et al. Among authors: tonnies h. Am J Hum Genet. 2002 Aug;71(2):276-85. doi: 10.1086/341610. Epub 2002 Jun 10. Am J Hum Genet. 2002. PMID: 12058347 Free PMC article.

2

Molecular cytogenetic techniques for the diagnosis of chromosomal abnormalities in childhood disease.

Stumm M, Tönnies H, Wieacker PF. Stumm M, et al. Among authors: tonnies h. Eur J Pediatr. 1999 Jul;158(7):531-6. doi: 10.1007/s004310051140. Eur J Pediatr. 1999. PMID: 10412808 Review.

3

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

4

Two further cases of WHS with unbalanced de novo translocation t(4;8) characterised by CGH and FISH.

Tönnies H, Stumm M, Neumann L, Volleth M, Grumpelt U, Müsebeck J, Annuss G, Neitzel H. Tönnies H, et al. J Med Genet. 2001 Jun;38(6):E21. doi: 10.1136/jmg.38.6.e21. J Med Genet. 2001. PMID: 11389168 Free PMC article. No abstract available.

5

Partial trisomy 9p12p21.3 with a normal phenotype.

Stumm M, Müsebeck J, Tönnies H, Volleth M, Lemke J, Chudoba I, Wieacker P. Stumm M, et al. Among authors: tonnies h. J Med Genet. 2002 Feb;39(2):141-4. doi: 10.1136/jmg.39.2.141. J Med Genet. 2002. PMID: 11836367 Free PMC article. No abstract available.

6

Chromosome 2 aberrations in clinical cases characterised by high resolution multicolour banding and region specific FISH probes.

Weise A, Starke H, Heller A, Tönnies H, Volleth M, Stumm M, Gabriele S, Nietzel A, Claussen U, Liehr T. Weise A, et al. Among authors: tonnies h. J Med Genet. 2002 Jun;39(6):434-9. doi: 10.1136/jmg.39.6.434. J Med Genet. 2002. PMID: 12070255 Free PMC article. No abstract available.

7

Partial monosomy 2p as the single chromosomal anomaly in a case of renal metanephric adenoma.

Stumm M, Koch A, Wieacker PF, Phillip C, Steinbach F, Allhoff EP, Buhtz P, Walter H, Tönnies H, Wirth J. Stumm M, et al. Among authors: tonnies h. Cancer Genet Cytogenet. 1999 Nov;115(1):82-5. doi: 10.1016/s0165-4608(99)00086-2. Cancer Genet Cytogenet. 1999. PMID: 10565308 No abstract available.

8

Mosaic tetrasomy 9p in a girl with multiple congenital anomalies: cytogenetic and molecular-cytogenetic studies.

Stumm M, Tönnies H, Mandon U, Götze A, Krebs P, Wieacker PF. Stumm M, et al. Among authors: tonnies h. Eur J Pediatr. 1999 Jul;158(7):571-5. doi: 10.1007/s004310051149. Eur J Pediatr. 1999. PMID: 10412817

9

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.

10

Jacobsen syndrome and Beckwith-Wiedemann syndrome caused by a parental pericentric inversion inv(11)(p15q24).

Gadzicki D, Baumer A, Wey E, Happel CM, Rudolph C, Tönnies H, Neitzel H, Steinemann D, Welte K, Klein C, Schlegelberger B. Gadzicki D, et al. Among authors: tonnies h. Ann Hum Genet. 2006 Nov;70(Pt 6):958-64. doi: 10.1111/j.1469-1809.2006.00271.x. Ann Hum Genet. 2006. PMID: 17044870

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