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Items: 28

1.

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

Wieczorek D, Bögershausen N, Beleggia F, Steiner-Haldenstätt S, Pohl E, Li Y, Milz E, Martin M, Thiele H, Altmüller J, Alanay Y, Kayserili H, Klein-Hitpass L, Böhringer S, Wollstein A, Albrecht B, Boduroglu K, Caliebe A, Chrzanowska K, Cogulu O, Cristofoli F, Czeschik JC, Devriendt K, Dotti MT, Elcioglu N, Gener B, Goecke TO, Krajewska-Walasek M, Guillén-Navarro E, Hayek J, Houge G, Kilic E, Simsek-Kiper PÖ, López-González V, Kuechler A, Lyonnet S, Mari F, Marozza A, Mathieu Dramard M, Mikat B, Morin G, Morice-Picard F, Ozkinay F, Rauch A, Renieri A, Tinschert S, Utine GE, Vilain C, Vivarelli R, Zweier C, Nürnberg P, Rahmann S, Vermeesch J, Lüdecke HJ, Zeschnigk M, Wollnik B.

Hum Mol Genet. 2013 Dec 20;22(25):5121-35. doi: 10.1093/hmg/ddt366. Epub 2013 Aug 1.

2.

Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.

Czeschik JC, Voigt C, Goecke TO, Lüdecke HJ, Wagner N, Kuechler A, Wieczorek D.

Am J Med Genet A. 2013 Feb;161A(2):295-300. doi: 10.1002/ajmg.a.35735. Epub 2013 Jan 10.

PMID:
23307537
3.

Risks of less common cancers in proven mutation carriers with lynch syndrome.

Engel C, Loeffler M, Steinke V, Rahner N, Holinski-Feder E, Dietmaier W, Schackert HK, Goergens H, von Knebel Doeberitz M, Goecke TO, Schmiegel W, Buettner R, Moeslein G, Letteboer TG, Gómez García E, Hes FJ, Hoogerbrugge N, Menko FH, van Os TA, Sijmons RH, Wagner A, Kluijt I, Propping P, Vasen HF.

J Clin Oncol. 2012 Dec 10;30(35):4409-15. doi: 10.1200/JCO.2012.43.2278. Epub 2012 Oct 22.

PMID:
23091106
4.

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
5.

New mutations in the ATM gene and clinical data of 25 AT patients.

Demuth I, Dutrannoy V, Marques W Jr, Neitzel H, Schindler D, Dimova PS, Chrzanowska KH, Bojinova V, Gregorek H, Graul-Neumann LM, von Moers A, Schulze I, Nicke M, Bora E, Cankaya T, Oláh É, Kiss C, Bessenyei B, Szakszon K, Gruber-Sedlmayr U, Kroisel PM, Sodia S, Goecke TO, Dörk T, Digweed M, Sperling K, de Sá J, Lourenco CM, Varon R.

Neurogenetics. 2011 Nov;12(4):273-82. doi: 10.1007/s10048-011-0299-0. Epub 2011 Oct 2.

PMID:
21965147
6.

BRCA1/2 testing: uptake, phenocopies, and strategies to improve detection rates in initially negative families.

Fischer C, Engel C, Sutter C, Zachariae S, Schmutzler R, Meindl A, Heidemann S, Grimm T, Goecke TO, Debatin I, Horn D, Wieacker P, Gadzicki D, Becker K, Schäfer D, Stock F, Voigtländer T; German Consortium for Hereditary Breast and Ovarian Cancer.

Clin Genet. 2012 Nov;82(5):478-83. doi: 10.1111/j.1399-0004.2011.01788.x. Epub 2011 Oct 19.

PMID:
21919902
7.

Efficacy of annual colonoscopic surveillance in individuals with hereditary nonpolyposis colorectal cancer.

Engel C, Rahner N, Schulmann K, Holinski-Feder E, Goecke TO, Schackert HK, Kloor M, Steinke V, Vogelsang H, Möslein G, Görgens H, Dechant S, von Knebel Doeberitz M, Rüschoff J, Friedrichs N, Büttner R, Loeffler M, Propping P, Schmiegel W; German HNPCC Consortium.

Clin Gastroenterol Hepatol. 2010 Feb;8(2):174-82. doi: 10.1016/j.cgh.2009.10.003. Epub 2009 Oct 14.

PMID:
19835992
8.

Truncating mutations in Peutz-Jeghers syndrome are associated with more polyps, surgical interventions and cancers.

Salloch H, Reinacher-Schick A, Schulmann K, Pox C, Willert J, Tannapfel A, Heringlake S, Goecke TO, Aretz S, Stemmler S, Schmiegel W.

Int J Colorectal Dis. 2010 Jan;25(1):97-107. doi: 10.1007/s00384-009-0793-0. Epub 2009 Sep 2.

PMID:
19727776
9.

Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2.

Betz B, Theiss S, Aktas M, Konermann C, Goecke TO, Möslein G, Schaal H, Royer-Pokora B.

J Cancer Res Clin Oncol. 2010 Jan;136(1):123-34. doi: 10.1007/s00432-009-0643-z.

PMID:
19669161
10.

Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.

Neumann TE, Allanson J, Kavamura I, Kerr B, Neri G, Noonan J, Cordeddu V, Gibson K, Tzschach A, Krüger G, Hoeltzenbein M, Goecke TO, Kehl HG, Albrecht B, Luczak K, Sasiadek MM, Musante L, Laurie R, Peters H, Tartaglia M, Zenker M, Kalscheuer V.

Eur J Hum Genet. 2009 Apr;17(4):420-5. doi: 10.1038/ejhg.2008.188. Epub 2008 Oct 15.

11.

Deciphering the genetics of hereditary non-syndromic colorectal cancer.

Papaemmanuil E, Carvajal-Carmona L, Sellick GS, Kemp Z, Webb E, Spain S, Sullivan K, Barclay E, Lubbe S, Jaeger E, Vijayakrishnan J, Broderick P, Gorman M, Martin L, Lucassen A, Bishop DT, Evans DG, Maher ER, Steinke V, Rahner N, Schackert HK, Goecke TO, Holinski-Feder E, Propping P, Van Wezel T, Wijnen J, Cazier JB, Thomas H, Houlston RS, Tomlinson I; CORGI Consortium.

Eur J Hum Genet. 2008 Dec;16(12):1477-86. doi: 10.1038/ejhg.2008.129. Epub 2008 Jul 16.

12.

MLPA screening in the BRCA1 gene from 1,506 German hereditary breast cancer cases: novel deletions, frequent involvement of exon 17, and occurrence in single early-onset cases.

Engert S, Wappenschmidt B, Betz B, Kast K, Kutsche M, Hellebrand H, Goecke TO, Kiechle M, Niederacher D, Schmutzler RK, Meindl A.

Hum Mutat. 2008 Jul;29(7):948-58. doi: 10.1002/humu.20723.

PMID:
18431737
13.

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.

Rauch A, Thiel CT, Schindler D, Wick U, Crow YJ, Ekici AB, van Essen AJ, Goecke TO, Al-Gazali L, Chrzanowska KH, Zweier C, Brunner HG, Becker K, Curry CJ, Dallapiccola B, Devriendt K, Dörfler A, Kinning E, Megarbane A, Meinecke P, Semple RK, Spranger S, Toutain A, Trembath RC, Voss E, Wilson L, Hennekam R, de Zegher F, Dörr HG, Reis A.

Science. 2008 Feb 8;319(5864):816-9. doi: 10.1126/science.1151174. Epub 2008 Jan 3.

14.

A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.

Lehmann K, Seemann P, Silan F, Goecke TO, Irgang S, Kjaer KW, Kjaergaard S, Mahoney MJ, Morlot S, Reissner C, Kerr B, Wilkie AO, Mundlos S.

Am J Hum Genet. 2007 Aug;81(2):388-96. Epub 2007 Jun 8.

15.

Evaluation of mathematical models for breast cancer risk assessment in routine clinical use.

Fasching PA, Bani MR, Nestle-Krämling C, Goecke TO, Niederacher D, Beckmann MW, Lux MP.

Eur J Cancer Prev. 2007 Jun;16(3):216-24.

PMID:
17415092
16.

Age of uptake of early cancer detection facilities by low-risk and high-risk patients with familial breast and ovarian cancer.

Lux MP, Ackermann S, Bani MR, Nestle-Krämling C, Goecke TO, Niederacher D, Bodden-Heidrich R, Bender HG, Beckmann MW, Fasching PA.

Eur J Cancer Prev. 2005 Dec;14(6):503-11.

PMID:
16284494
17.

Use of intensified early cancer detection in high-risk patients with familial breast and ovarian cancer.

Lux MP, Ackermann S, Nestle-Krämling C, Goecke TO, Niederacher D, Bodden-Heidrich R, Bender HG, Beckmann MW, Fasching PA.

Eur J Cancer Prev. 2005 Aug;14(4):399-411.

PMID:
16030432
18.
19.

Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects.

Wuyts W, Waeber G, Meinecke P, Schüler H, Goecke TO, Van Hul W, Bartsch O.

Eur J Hum Genet. 2004 May;12(5):400-6. Review.

20.

Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1.

Schwabe GC, Türkmen S, Leschik G, Palanduz S, Stöver B, Goecke TO, Mundlos S.

Am J Med Genet A. 2004 Feb 1;124A(4):356-63.

PMID:
14735582
21.

Molecular cytogenetic characterization of a 10p14 deletion that includes the DGS2 region in a patient with multiple anomalies.

Skrypnyk C, Goecke TO, Majewski F, Bartsch O.

Am J Med Genet. 2002 Nov 22;113(2):207-12.

PMID:
12407714
22.

Prevention and therapy for BRCA1/2 mutation carriers and women at high risk for breast and ovarian cancer.

Kuschel B, Lux MP, Goecke TO, Beckmann MW.

Eur J Cancer Prev. 2000 Jun;9(3):139-50. Review.

PMID:
10954253
23.

Microcephalic osteodysplastic primordial dwarfism type II: report of three cases and review.

Majewski F, Goecke TO.

Am J Med Genet. 1998 Oct 30;80(1):25-31. Review.

PMID:
9800908
24.

[Tumor risk consultation for predisposed women from high risk cancer families].

Beckmann MW, Niederacher D, Bodden-Heidrich R, Goecke TO, Kuschel B, Achnoula M, Aba F, Schnürch HG, Bender HG.

Praxis (Bern 1994). 1998 Apr 8;87(15):511-5. Review. German.

PMID:
9608246
25.

Prenatal diagnosis of infantile neuronal ceroid-lipofuscinosis: a combined electron microscopic and molecular genetic approach.

Goebel HH, Vesa J, Reitter B, Goecke TO, Schneider-Rätzke B, Merz E.

Brain Dev. 1995 Mar-Apr;17(2):83-8.

PMID:
7625554
26.

[The problem of "benign macrocephaly"].

Frahsek G, Goecke TO, Scheil HG.

Anthropol Anz. 1988 Mar;46(1):59-64. Review. German.

PMID:
3291749
27.

[Anthropometric studies of a student sample of Düsseldorf University].

Frahsek G, Scheil HG, Goecke TO.

Anthropol Anz. 1987 Mar;45(1):79-86. German.

PMID:
3579237
28.

[Head measurements and body height in 18 to 20-year-old males in a West German population (Dusseldorf district)].

Scheil HG, Goecke TO.

Anthropol Anz. 1984 Dec;42(4):277-80. German. No abstract available.

PMID:
6529252

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