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Items: 22

1.

Breast cancer risk in BRCA1/2 mutation carriers and noncarriers under prospective intensified surveillance.

Engel C, Fischer C, Zachariae S, Bucksch K, Rhiem K, Giesecke J, Herold N, Wappenschmidt B, Hübbel V, Maringa M, Reichstein-Gnielinski S, Hahnen E, Bartram CR, Dikow N, Schott S, Speiser D, Horn D, Fallenberg EM, Kiechle M, Quante AS, Vesper AS, Fehm T, Mundhenke C, Arnold N, Leinert E, Just W, Siebers-Renelt U, Weigel S, Gehrig A, Wöckel A, Schlegelberger B, Pertschy S, Kast K, Wimberger P, Briest S, Loeffler M, Bick U, Schmutzler RK; German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC).

Int J Cancer. 2019 May 13. doi: 10.1002/ijc.32396. [Epub ahead of print]

PMID:
31081934
2.

What do parents expect from a genetic diagnosis of their child with intellectual disability?

Dikow N, Moog U, Karch S, Sander A, Kilian S, Blank R, Reuner G.

J Appl Res Intellect Disabil. 2019 Apr 15. doi: 10.1111/jar.12602. [Epub ahead of print]

PMID:
30983121
3.

Familial breast cancer: Genetic counseling over time, including patients´ expectations and initiators considering the Angelina Jolie effect.

Evers C, Fischer C, Dikow N, Schott S.

PLoS One. 2017 May 25;12(5):e0177893. doi: 10.1371/journal.pone.0177893. eCollection 2017.

4.

Women at familial risk of breast cancer electing for prophylactic mastectomy: frequencies, procedures, and decision-making characteristics.

Schott S, Vetter L, Keller M, Bruckner T, Golatta M, Eismann S, Dikow N, Evers C, Sohn C, Heil J.

Arch Gynecol Obstet. 2017 Jun;295(6):1451-1458. doi: 10.1007/s00404-017-4376-y. Epub 2017 Apr 24.

PMID:
28439664
5.

DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.

Dikow N, Granzow M, Graul-Neumann LM, Karch S, Hinderhofer K, Paramasivam N, Behl LJ, Kaufmann L, Fischer C, Evers C, Schlesner M, Eils R, Borck G, Zweier C, Bartram CR, Carey JC, Moog U.

Am J Med Genet A. 2017 May;173(5):1369-1373. doi: 10.1002/ajmg.a.38164. Epub 2017 Mar 29.

PMID:
28371085
6.

Long-term experiences with genetic consultation in people with hereditary breast and ovarian cancer.

Eismann S, Vetter L, Keller M, Bruckner T, Golatta M, Hennings A, Domschke C, Dikow N, Sohn C, Heil J, Schott S.

Arch Gynecol Obstet. 2016 Nov;294(5):1011-1018. Epub 2016 Jun 10.

PMID:
27282618
7.

Adherence to the breast cancer surveillance program for women at risk for familial breast and ovarian cancer versus overscreening: a monocenter study in Germany.

Vetter L, Keller M, Bruckner T, Golatta M, Eismann S, Evers C, Dikow N, Sohn C, Heil J, Schott S.

Breast Cancer Res Treat. 2016 Apr;156(2):289-99. doi: 10.1007/s10549-016-3748-5. Epub 2016 Mar 9.

PMID:
26960712
8.

Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer.

Kast K, Rhiem K, Wappenschmidt B, Hahnen E, Hauke J, Bluemcke B, Zarghooni V, Herold N, Ditsch N, Kiechle M, Braun M, Fischer C, Dikow N, Schott S, Rahner N, Niederacher D, Fehm T, Gehrig A, Mueller-Reible C, Arnold N, Maass N, Borck G, de Gregorio N, Scholz C, Auber B, Varon-Manteeva R, Speiser D, Horvath J, Lichey N, Wimberger P, Stark S, Faust U, Weber BH, Emons G, Zachariae S, Meindl A, Schmutzler RK, Engel C; German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC).

J Med Genet. 2016 Jul;53(7):465-71. doi: 10.1136/jmedgenet-2015-103672. Epub 2016 Feb 29.

PMID:
26928436
9.

Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts.

Staufner C, Haack TB, Köpke MG, Straub BK, Kölker S, Thiel C, Freisinger P, Baric I, McKiernan PJ, Dikow N, Harting I, Beisse F, Burgard P, Kotzaeridou U, Lenz D, Kühr J, Himbert U, Taylor RW, Distelmaier F, Vockley J, Ghaloul-Gonzalez L, Ozolek JA, Zschocke J, Kuster A, Dick A, Das AM, Wieland T, Terrile C, Strom TM, Meitinger T, Prokisch H, Hoffmann GF.

J Inherit Metab Dis. 2016 Jan;39(1):3-16. doi: 10.1007/s10545-015-9896-7. Epub 2015 Nov 5.

PMID:
26541327
10.

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.

Haack TB, Staufner C, Köpke MG, Straub BK, Kölker S, Thiel C, Freisinger P, Baric I, McKiernan PJ, Dikow N, Harting I, Beisse F, Burgard P, Kotzaeridou U, Kühr J, Himbert U, Taylor RW, Distelmaier F, Vockley J, Ghaloul-Gonzalez L, Zschocke J, Kremer LS, Graf E, Schwarzmayr T, Bader DM, Gagneur J, Wieland T, Terrile C, Strom TM, Meitinger T, Hoffmann GF, Prokisch H.

Am J Hum Genet. 2015 Jul 2;97(1):163-9. doi: 10.1016/j.ajhg.2015.05.009. Epub 2015 Jun 11.

11.

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.

Rebbeck TR, Mitra N, Wan F, Sinilnikova OM, Healey S, McGuffog L, Mazoyer S, Chenevix-Trench G, Easton DF, Antoniou AC, Nathanson KL; CIMBA Consortium, Laitman Y, Kushnir A, Paluch-Shimon S, Berger R, Zidan J, Friedman E, Ehrencrona H, Stenmark-Askmalm M, Einbeigi Z, Loman N, Harbst K, Rantala J, Melin B, Huo D, Olopade OI, Seldon J, Ganz PA, Nussbaum RL, Chan SB, Odunsi K, Gayther SA, Domchek SM, Arun BK, Lu KH, Mitchell G, Karlan BY, Walsh C, Lester J, Godwin AK, Pathak H, Ross E, Daly MB, Whittemore AS, John EM, Miron A, Terry MB, Chung WK, Goldgar DE, Buys SS, Janavicius R, Tihomirova L, Tung N, Dorfling CM, van Rensburg EJ, Steele L, Neuhausen SL, Ding YC, Ejlertsen B, Gerdes AM, Hansen Tv, Ramón y Cajal T, Osorio A, Benitez J, Godino J, Tejada MI, Duran M, Weitzel JN, Bobolis KA, Sand SR, Fontaine A, Savarese A, Pasini B, Peissel B, Bonanni B, Zaffaroni D, Vignolo-Lutati F, Scuvera G, Giannini G, Bernard L, Genuardi M, Radice P, Dolcetti R, Manoukian S, Pensotti V, Gismondi V, Yannoukakos D, Fostira F, Garber J, Torres D, Rashid MU, Hamann U, Peock S, Frost D, Platte R, Evans DG, Eeles R, Davidson R, Eccles D, Cole T, Cook J, Brewer C, Hodgson S, Morrison PJ, Walker L, Porteous ME, Kennedy MJ, Izatt L, Adlard J, Donaldson A, Ellis S, Sharma P, Schmutzler RK, Wappenschmidt B, Becker A, Rhiem K, Hahnen E, Engel C, Meindl A, Engert S, Ditsch N, Arnold N, Plendl HJ, Mundhenke C, Niederacher D, Fleisch M, Sutter C, Bartram CR, Dikow N, Wang-Gohrke S, Gadzicki D, Steinemann D, Kast K, Beer M, Varon-Mateeva R, Gehrig A, Weber BH, Stoppa-Lyonnet D, Sinilnikova OM, Mazoyer S, Houdayer C, Belotti M, Gauthier-Villars M, Damiola F, Boutry-Kryza N, Lasset C, Sobol H, Peyrat JP, Muller D, Fricker JP, Collonge-Rame MA, Mortemousque I, Nogues C, Rouleau E, Isaacs C, De Paepe A, Poppe B, Claes K, De Leeneer K, Piedmonte M, Rodriguez G, Wakely K, Boggess J, Blank SV, Basil J, Azodi M, Phillips KA, Caldes T, de la Hoya M, Romero A, Nevanlinna H, Aittomäki K, van der Hout AH, Hogervorst FB, Verhoef S, Collée JM, Seynaeve C, Oosterwijk JC, Gille JJ, Wijnen JT, Gómez Garcia EB, Kets CM, Ausems MG, Aalfs CM, Devilee P, Mensenkamp AR, Kwong A, Olah E, Papp J, Diez O, Lazaro C, Darder E, Blanco I, Salinas M, Jakubowska A, Lubinski J, Gronwald J, Jaworska-Bieniek K, Durda K, Sukiennicki G, Huzarski T, Byrski T, Cybulski C, Toloczko-Grabarek A, Złowocka-Perłowska E, Menkiszak J, Arason A, Barkardottir RB, Simard J, Laframboise R, Montagna M, Agata S, Alducci E, Peixoto A, Teixeira MR, Spurdle AB, Lee MH, Park SK, Kim SW, Friebel TM, Couch FJ, Lindor NM, Pankratz VS, Guidugli L, Wang X, Tischkowitz M, Foretova L, Vijai J, Offit K, Robson M, Rau-Murthy R, Kauff N, Fink-Retter A, Singer CF, Rappaport C, Gschwantler-Kaulich D, Pfeiler G, Tea MK, Berger A, Greene MH, Mai PL, Imyanitov EN, Toland AE, Senter L, Bojesen A, Pedersen IS, Skytte AB, Sunde L, Thomassen M, Moeller ST, Kruse TA, Jensen UB, Caligo MA, Aretini P, Teo SH, Selkirk CG, Hulick PJ, Andrulis I.

JAMA. 2015 Apr 7;313(13):1347-61. doi: 10.1001/jama.2014.5985. Erratum in: JAMA. 2015 Aug 11;314(6):628.

12.

The "Wagshurst study": p.Val40Ile transthyretin gene variant causes late-onset cardiomyopathy.

Bauer R, Dikow N, Brauer A, Kreuter M, Buss S, Evers C, Röcken C, Schnabel PA, Hinderhofer K, Ehlermann P, Katus HA, Kristen AV.

Amyloid. 2014 Dec;21(4):267-75. doi: 10.3109/13506129.2014.967846. Epub 2014 Oct 7.

PMID:
25291558
13.

Five children with deletions of 1p34.3 encompassing AGO1 and AGO3.

Tokita MJ, Chow PM, Mirzaa G, Dikow N, Maas B, Isidor B, Le Caignec C, Penney LS, Mazzotta G, Bernardini L, Filippi T, Battaglia A, Donti E, Earl D, Prontera P.

Eur J Hum Genet. 2015 Jun;23(6):761-5. doi: 10.1038/ejhg.2014.202. Epub 2014 Oct 1.

14.

3p25.3 microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior.

Dikow N, Maas B, Karch S, Granzow M, Janssen JW, Jauch A, Hinderhofer K, Sutter C, Schubert-Bast S, Anderlid BM, Dallapiccola B, Van der Aa N, Moog U.

Am J Med Genet A. 2014 Dec;164A(12):3061-8. doi: 10.1002/ajmg.a.36761. Epub 2014 Sep 24.

PMID:
25256099
15.

Clinical and molecular characterization of the BRCA2 p.Asn3124Ile variant reveals substantial evidence for pathogenic significance.

Surowy HM, Sutter C, Mittnacht M, Klaes R, Schaefer D, Evers C, Burgemeister AL, Goehringer C, Dikow N, Heil J, Golatta M, Schott S, Schneeweiss A, Bugert P, Sohn C, Bartram CR, Burwinkel B.

Breast Cancer Res Treat. 2014 Jun;145(2):451-60. doi: 10.1007/s10549-014-2943-5. Epub 2014 Apr 12.

PMID:
24728577
16.

The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?

Dikow N, Maas B, Gaspar H, Kreiss-Nachtsheim M, Engels H, Kuechler A, Garbes L, Netzer C, Neuhann TM, Koehler U, Casteels K, Devriendt K, Janssen JW, Jauch A, Hinderhofer K, Moog U.

Am J Med Genet A. 2013 Sep;161A(9):2158-66. doi: 10.1002/ajmg.a.36046. Epub 2013 Aug 2.

PMID:
23913520
17.

Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting BRCA1/2 mutation carrier probabilities: a study based on 7352 families from the German Hereditary Breast and Ovarian Cancer Consortium.

Fischer C, Kuchenbäcker K, Engel C, Zachariae S, Rhiem K, Meindl A, Rahner N, Dikow N, Plendl H, Debatin I, Grimm T, Gadzicki D, Flöttmann R, Horvath J, Schröck E, Stock F, Schäfer D, Schwaab I, Kartsonaki C, Mavaddat N, Schlegelberger B, Antoniou AC, Schmutzler R; German Consortium for Hereditary Breast and Ovarian Cancer.

J Med Genet. 2013 Jun;50(6):360-7. doi: 10.1136/jmedgenet-2012-101415. Epub 2013 Apr 6.

PMID:
23564750
18.

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.

Szklarczyk R, Wanschers BF, Nijtmans LG, Rodenburg RJ, Zschocke J, Dikow N, van den Brand MA, Hendriks-Franssen MG, Gilissen C, Veltman JA, Nooteboom M, Koopman WJ, Willems PH, Smeitink JA, Huynen MA, van den Heuvel LP.

Hum Mol Genet. 2013 Feb 15;22(4):656-67. doi: 10.1093/hmg/dds473. Epub 2012 Nov 2.

PMID:
23125284
19.

Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management.

Heidemann S, Fischer C, Engel C, Fischer B, Harder L, Schlegelberger B, Niederacher D, Goecke TO, Doelken SC, Dikow N, Jonat W, Morlot S, Schmutzler RC, Arnold NK.

Breast Cancer Res Treat. 2012 Aug;134(3):1229-39. doi: 10.1007/s10549-012-2050-4. Epub 2012 Apr 26.

PMID:
22535016
20.

How fingers and face can be the clue?

Behnecke A, Dikow N, Moog U.

Eur J Neurol. 2012 Mar;19(3):e27-8. doi: 10.1111/j.1468-1331.2011.03622.x. No abstract available.

PMID:
22329858
21.

Warty skin changes, chronic scrotal lymphoedema, and facial dysmorphism.

Felcht M, Dikow N, Goebeler M, Stroebel P, Booken N, Voßmerbäumer U, Merx K, Henzler T, Marx A, Moog U, Goerdt S, Klemke CD.

BMJ Case Rep. 2010 May 19;2010. pii: bcr0820092214. doi: 10.1136/bcr.08.2009.2214.

22.

Quantification of the methylation status of the PWS/AS imprinted region: comparison of two approaches based on bisulfite sequencing and methylation-sensitive MLPA.

Dikow N, Nygren AO, Schouten JP, Hartmann C, Krämer N, Janssen B, Zschocke J.

Mol Cell Probes. 2007 Jun;21(3):208-15. Epub 2007 Jan 12.

PMID:
17303379

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