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Items: 1 to 20 of 106

1.

TRPS1 gene alterations in human subependymoma.

Fischer SB, Attenhofer M, Gultekin SH, Ross DA, Heinimann K.

J Neurooncol. 2017 May 20. doi: 10.1007/s11060-017-2496-7. [Epub ahead of print]

PMID:
28528424
2.

A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report.

Smaili W, Elalaoui SC, Meier S, Zerkaoui M, Sefiani A, Heinimann K.

BMC Med Genet. 2017 May 3;18(1):50. doi: 10.1186/s12881-017-0413-8.

3.

Response to Sierra-Delgado et al.

De Geyter C, M'Rabet N, De Geyter J, Zhang H, Heinimann K.

Genet Med. 2016 Aug;18(8):857-8. doi: 10.1038/gim.2016.79. Epub 2016 Jul 14. No abstract available.

PMID:
27416008
4.

Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.

Suter AA, Itin P, Heinimann K, Ahmed M, Ashraf T, Fryssira H, Kini U, Lapunzina P, Miny P, Sommerlund M, Suri M, Vaeth S, Vasudevan P, Gallati S.

Mol Genet Genomic Med. 2016 Feb 24;4(3):359-66. doi: 10.1002/mgg3.209. eCollection 2016 May.

5.

Systematic immunohistochemical screening for Lynch syndrome in colorectal cancer: a single centre experience of 486 patients.

Zumstein V, Vinzens F, Zettl A, Heinimann K, Koeberle D, von Flüe M, Bolli M.

Swiss Med Wkly. 2016 May 6;146:w14315. doi: 10.4414/smw.2016.14315. eCollection 2016.

6.

Exome sequencing of osteosarcoma reveals mutation signatures reminiscent of BRCA deficiency.

Kovac M, Blattmann C, Ribi S, Smida J, Mueller NS, Engert F, Castro-Giner F, Weischenfeldt J, Kovacova M, Krieg A, Andreou D, Tunn PU, Dürr HR, Rechl H, Schaser KD, Melcher I, Burdach S, Kulozik A, Specht K, Heinimann K, Fulda S, Bielack S, Jundt G, Tomlinson I, Korbel JO, Nathrath M, Baumhoer D.

Nat Commun. 2015 Dec 3;6:8940. doi: 10.1038/ncomms9940.

7.

Target gene mutational pattern in Lynch syndrome colorectal carcinomas according to tumour location and germline mutation.

Pinheiro M, Pinto C, Peixoto A, Veiga I, Lopes P, Henrique R, Baldaia H, Carneiro F, Seruca R, Tomlinson I, Kovac M, Heinimann K, Teixeira MR.

Br J Cancer. 2015 Aug 11;113(4):686-92. doi: 10.1038/bjc.2015.281. Epub 2015 Aug 6.

8.

Somatic alterations in juvenile polyps from BMPR1A and SMAD4 mutation carriers.

Blatter RH, Plasilova M, Wenzel F, Gokaslan ST, Terracciano L, Ashfaq R, Heinimann K.

Genes Chromosomes Cancer. 2015 Sep;54(9):575-82. doi: 10.1002/gcc.22270. Epub 2015 Jul 14.

PMID:
26171675
9.

Recurrent chromosomal gains and heterogeneous driver mutations characterise papillary renal cancer evolution.

Kovac M, Navas C, Horswell S, Salm M, Bardella C, Rowan A, Stares M, Castro-Giner F, Fisher R, de Bruin EC, Kovacova M, Gorman M, Makino S, Williams J, Jaeger E, Jones A, Howarth K, Larkin J, Pickering L, Gore M, Nicol DL, Hazell S, Stamp G, O'Brien T, Challacombe B, Matthews N, Phillimore B, Begum S, Rabinowitz A, Varela I, Chandra A, Horsfield C, Polson A, Tran M, Bhatt R, Terracciano L, Eppenberger-Castori S, Protheroe A, Maher E, El Bahrawy M, Fleming S, Ratcliffe P, Heinimann K, Swanton C, Tomlinson I.

Nat Commun. 2015 Mar 19;6:6336. doi: 10.1038/ncomms7336.

10.

Management of von hippel-lindau disease: an interdisciplinary review.

Schmid S, Gillessen S, Binet I, Brändle M, Engeler D, Greiner J, Hader C, Heinimann K, Kloos P, Krek W, Krull I, Stoeckli SJ, Sulz MC, van Leyen K, Weber J, Rothermundt C, Hundsberger T.

Oncol Res Treat. 2014;37(12):761-71. doi: 10.1159/000369362. Epub 2014 Nov 17. Review. Erratum in: Oncol Res Treat. 2015;38(1-2):50.

11.

High-resolution breakpoint analysis provides evidence for the sequence-directed nature of genome rearrangements in hereditary disorders.

Kovac MB, Kovacova M, Bachraty H, Bachrata K, Piscuoglio S, Hutter P, Ilencikova D, Bartosova Z, Tomlinson I, Roethlisberger B, Heinimann K.

Hum Mutat. 2015 Feb;36(2):250-9. doi: 10.1002/humu.22734.

PMID:
25418510
12.

Transient myeloproliferative disorder in neonates without Down syndrome: case report and review.

Schifferli A, Hitzler J, Bartholdi D, Heinimann K, Hoeller S, Diesch T, Kühne T.

Eur J Haematol. 2015 May;94(5):456-62. doi: 10.1111/ejh.12382. Epub 2014 Jun 14.

PMID:
24853125
13.

Congenital muscular dystrophy with dropped head phenotype and cognitive impairment due to a novel mutation in the LMNA gene.

Bonati U, Bechtel N, Heinimann K, Rutz E, Schneider J, Frank S, Weber P, Fischer D.

Neuromuscul Disord. 2014 Jun;24(6):529-32. doi: 10.1016/j.nmd.2014.02.004. Epub 2014 Feb 15.

PMID:
24684859
14.

Skeletal muscle MRI of the lower limbs in congenital muscular dystrophy patients with novel POMT1 and POMT2 mutations.

Hafner P, Bonati U, Fischmann A, Schneider J, Frank S, Morris-Rosendahl DJ, Dumea A, Heinimann K, Fischer D.

Neuromuscul Disord. 2014 Apr;24(4):321-4. doi: 10.1016/j.nmd.2014.01.009. Epub 2014 Jan 28.

PMID:
24556424
15.

SH2D4A is frequently downregulated in hepatocellular carcinoma and cirrhotic nodules.

Quagliata L, Andreozzi M, Kovac M, Tornillo L, Makowska Z, Moretti F, Heim MH, Heinimann K, Piscuoglio S, Terracciano LM.

Eur J Cancer. 2014 Mar;50(4):731-8. doi: 10.1016/j.ejca.2013.11.018. Epub 2013 Dec 3.

PMID:
24315626
16.

Toward a molecular classification of colorectal cancer: the role of microsatellite instability status.

Heinimann K.

Front Oncol. 2013 Oct 31;3:272. doi: 10.3389/fonc.2013.00272. Review.

17.

3'-UTR poly(T/U) tract deletions and altered expression of EWSR1 are a hallmark of mismatch repair-deficient cancers.

Kishore S, Piscuoglio S, Kovac MB, Gylling A, Wenzel F, Trapani F, Altermatt HJ, Mele V, Marra G, Peltomäki P, Terracciano L, Zavolan M, Heinimann K.

Cancer Res. 2014 Jan 1;74(1):224-34. doi: 10.1158/0008-5472.CAN-13-2100. Epub 2013 Oct 24.

18.

Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.

Filges I, Nosova E, Bruder E, Tercanli S, Townsend K, Gibson WT, Röthlisberger B, Heinimann K, Hall JG, Gregory-Evans CY, Wasserman WW, Miny P, Friedman JM.

Clin Genet. 2014 Sep;86(3):220-8. doi: 10.1111/cge.12301. Epub 2013 Nov 18.

PMID:
24128419
19.

Similar prevalence of expanded CGG repeat lengths in the fragile X mental retardation I gene among infertile women and among women with proven fertility: a prospective study.

De Geyter C, M'Rabet N, De Geyter J, Zürcher S, Moffat R, Bösch N, Zhang H, Heinimann K.

Genet Med. 2014 May;16(5):374-8. doi: 10.1038/gim.2013.146. Epub 2013 Oct 10.

PMID:
24113347
20.

Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome.

Nieuwenhuis MH, Kets CM, Murphy-Ryan M, Yntema HG, Evans DG, Colas C, Møller P, Hes FJ, Hodgson SV, Olderode-Berends MJ, Aretz S, Heinimann K, Gómez García EB, Douglas F, Spigelman A, Timshel S, Lindor NM, Vasen HF.

Fam Cancer. 2014 Mar;13(1):57-63. doi: 10.1007/s10689-013-9674-3.

PMID:
23934601

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