Heinimann K - Search Results

1

aCGH on chorionic villi mirrors the complexity of fetoplacental mosaicism in prenatal diagnosis.

Filges I, Kang A, Klug V, Wenzel F, Heinimann K, Tercanli S, Miny P. Filges I, et al. Among authors: heinimann k. Prenat Diagn. 2011 May;31(5):473-8. doi: 10.1002/pd.2721. Epub 2011 Feb 24. Prenat Diagn. 2011. PMID: 21351283

2

Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair.

Sherwood K, Ward JC, Soriano I, Martin L, Campbell A, Rahbari R, Kafetzopoulos I, Sproul D, Green A, Sampson JR, Donaldson A, Ong KR, Heinimann K, Nielsen M, Thomas H, Latchford A, Palles C, Tomlinson I. Sherwood K, et al. Among authors: heinimann k. Nat Commun. 2023 Jun 19;14(1):3636. doi: 10.1038/s41467-023-39248-0. Nat Commun. 2023. PMID: 37336879 Free PMC article.

3

[Genetic testing in pregnancy].

Miny P, Heinimann K, Tercanli S, Holzgreve W. Miny P, et al. Among authors: heinimann k. Ther Umsch. 2003 Aug;60(8):455-61. doi: 10.1024/0040-5930.60.8.455. Ther Umsch. 2003. PMID: 14502852 Review. German.

4

Mosaic ring chromosome 8: clinical and array-CGH findings in partial trisomy 8.

Filges I, Röthlisberger B, Wenzel F, Heinimann K, Huber AR, Miny P. Filges I, et al. Among authors: heinimann k. Am J Med Genet A. 2008 Nov 1;146A(21):2837-41. doi: 10.1002/ajmg.a.32520. Am J Med Genet A. 2008. PMID: 18924172 No abstract available.

5

Familial 14.5 Mb interstitial deletion 13q21.1-13q21.33: clinical and array-CGH study of a benign phenotype in a three-generation family.

Filges I, Röthlisberger B, Noppen C, Boesch N, Wenzel F, Necker J, Binkert F, Huber AR, Heinimann K, Miny P. Filges I, et al. Among authors: heinimann k. Am J Med Genet A. 2009 Feb;149A(2):237-41. doi: 10.1002/ajmg.a.32622. Am J Med Genet A. 2009. PMID: 19161139

6

Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome.

Filges I, Röthlisberger B, Boesch N, Weber P, Wenzel F, Huber AR, Heinimann K, Miny P. Filges I, et al. Among authors: heinimann k. Am J Med Genet A. 2010 Apr;152A(4):987-93. doi: 10.1002/ajmg.a.33330. Am J Med Genet A. 2010. PMID: 20358614

7

Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism.

Filges I, Röthlisberger B, Blattner A, Boesch N, Demougin P, Wenzel F, Huber AR, Heinimann K, Weber P, Miny P. Filges I, et al. Among authors: heinimann k. Clin Genet. 2011 Jan;79(1):79-85. doi: 10.1111/j.1399-0004.2010.01590.x. Epub 2010 Nov 22. Clin Genet. 2011. PMID: 21091464

8

Discordant gene expression signatures and related phenotypic differences in lamin A- and A/C-related Hutchinson-Gilford progeria syndrome (HGPS).

Plasilova M, Chattopadhyay C, Ghosh A, Wenzel F, Demougin P, Noppen C, Schaub N, Szinnai G, Terracciano L, Heinimann K. Plasilova M, et al. Among authors: heinimann k. PLoS One. 2011;6(6):e21433. doi: 10.1371/journal.pone.0021433. Epub 2011 Jun 27. PLoS One. 2011. PMID: 21738662 Free PMC article.

9

A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesis.

Filges I, Kunz C, Miny P, Boesch N, Szinnai G, Wenzel F, Tschudin S, Zumsteg U, Heinimann K. Filges I, et al. Among authors: heinimann k. Fertil Steril. 2011 Oct;96(4):851-5. doi: 10.1016/j.fertnstert.2011.07.1137. Epub 2011 Aug 24. Fertil Steril. 2011. PMID: 21868002 Free article.

10

TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability.

Sidler JA, Filges I, Boesch N, Ramelli GP, Röthlisberger B, Huber AR, Tercanli S, Bronz L, Miny P, Heinimann K. Sidler JA, et al. Among authors: heinimann k. Clin Dysmorphol. 2012 Apr;21(2):87-90. doi: 10.1097/MCD.0b013e32834e9248. Clin Dysmorphol. 2012. PMID: 22127049 No abstract available.

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