Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

105 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Evidence for linkage of the bladder exstrophy-epispadias complex on chromosome 4q31.21-22 and 19q13.31-41 from a consanguineous Iranian family.
Reutter H, Rüschendorf F, Mattheisen M, Draaken M, Bartels E, Hübner N, Hoffmann P, Payabvash S, Saar K, Nöthen MM, Kajbafzadeh AM, Ludwig M. Reutter H, et al. Among authors: ruschendorf f. Birth Defects Res A Clin Mol Teratol. 2010 Sep;88(9):757-61. doi: 10.1002/bdra.20701. Birth Defects Res A Clin Mol Teratol. 2010. PMID: 20672349
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
Schubert J, Siekierska A, Langlois M, May P, Huneau C, Becker F, Muhle H, Suls A, Lemke JR, de Kovel CG, Thiele H, Konrad K, Kawalia A, Toliat MR, Sander T, Rüschendorf F, Caliebe A, Nagel I, Kohl B, Kecskés A, Jacmin M, Hardies K, Weckhuysen S, Riesch E, Dorn T, Brilstra EH, Baulac S, Møller RS, Hjalgrim H, Koeleman BP; EuroEPINOMICS RES Consortium; Jurkat-Rott K, Lehman-Horn F, Roach JC, Glusman G, Hood L, Galas DJ, Martin B, de Witte PA, Biskup S, De Jonghe P, Helbig I, Balling R, Nürnberg P, Crawford AD, Esguerra CV, Weber YG, Lerche H. Schubert J, et al. Among authors: ruschendorf f. Nat Genet. 2014 Dec;46(12):1327-32. doi: 10.1038/ng.3130. Epub 2014 Nov 2. Nat Genet. 2014. PMID: 25362483
Genome-wide association study identifies the SERPINB gene cluster as a susceptibility locus for food allergy.
Marenholz I, Grosche S, Kalb B, Rüschendorf F, Blümchen K, Schlags R, Harandi N, Price M, Hansen G, Seidenberg J, Röblitz H, Yürek S, Tschirner S, Hong X, Wang X, Homuth G, Schmidt CO, Nöthen MM, Hübner N, Niggemann B, Beyer K, Lee YA. Marenholz I, et al. Among authors: ruschendorf f. Nat Commun. 2017 Oct 20;8(1):1056. doi: 10.1038/s41467-017-01220-0. Nat Commun. 2017. PMID: 29051540 Free PMC article.
Evaluation of food allergy candidate loci in the Genetics of Food Allergy study.
Marenholz I, Grosche S, Rüschendorf F, Kalb B, Blumchen K, Schlags R, Harandi N, Price M, Hansen G, Seidenberg J, Yürek S, Homuth G, Schmidt CO, Nöthen MM, Hubner N, Niggemann B, Beyer K, Lee YA. Marenholz I, et al. Among authors: ruschendorf f. J Allergy Clin Immunol. 2018 Oct;142(4):1368-1370.e2. doi: 10.1016/j.jaci.2018.06.019. Epub 2018 Jun 30. J Allergy Clin Immunol. 2018. PMID: 29969633 No abstract available.
Molecular karyotyping using an SNP array for genomewide genotyping.
Rauch A, Rüschendorf F, Huang J, Trautmann U, Becker C, Thiel C, Jones KW, Reis A, Nürnberg P. Rauch A, et al. Among authors: ruschendorf f. J Med Genet. 2004 Dec;41(12):916-22. doi: 10.1136/jmg.2004.022855. J Med Genet. 2004. PMID: 15591277 Free PMC article.
SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly.
Garshasbi M, Motazacker MM, Kahrizi K, Behjati F, Abedini SS, Nieh SE, Firouzabadi SG, Becker C, Rüschendorf F, Nürnberg P, Tzschach A, Vazifehmand R, Erdogan F, Ullmann R, Lenzner S, Kuss AW, Ropers HH, Najmabadi H. Garshasbi M, et al. Among authors: ruschendorf f. Hum Genet. 2006 Feb;118(6):708-15. doi: 10.1007/s00439-005-0104-y. Epub 2005 Nov 26. Hum Genet. 2006. PMID: 16311745
RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.
Henneke M, Diekmann S, Ohlenbusch A, Kaiser J, Engelbrecht V, Kohlschütter A, Krätzner R, Madruga-Garrido M, Mayer M, Opitz L, Rodriguez D, Rüschendorf F, Schumacher J, Thiele H, Thoms S, Steinfeld R, Nürnberg P, Gärtner J. Henneke M, et al. Among authors: ruschendorf f. Nat Genet. 2009 Jul;41(7):773-5. doi: 10.1038/ng.398. Epub 2009 Jun 14. Nat Genet. 2009. PMID: 19525954
105 results