Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring

por Soellner, Lukas, Begemann, Matthias, Degenhardt, Franziska, Geipel, Annegret, Eggermann, Thomas, Mangold, Elisabeth
Publicado en Eur J Hum Genet (2017)

Is it rare or common?

por Adhikari, Kaustubh, AlChawa, Taofik, Ludwig, Kerstin, Laird, Nan, Mangold, Elisabeth, Lange, Christoph
Publicado 2012

Outcome and Prognostic Factors in T4a Oropharyngeal Carcinoma, Including the Role of HPV Infection

por Psychogios, Georgios, Mantsopoulos, Konstantinos, Agaimy, Abbas, Brunner, Kathrin, Mangold, Elisabeth, Zenk, Johannes, Iro, Heinrich
Publicado 2014

Properties of permutation-based gene tests and controlling type 1 error using a summary statistic based gene test

por Swanson, David M, Blacker, Deborah, AlChawa, Taofik, Ludwig, Kerstin U, Mangold, Elisabeth, Lange, Christoph
Publicado 2013

On the Analysis of Sequence Data: Testing for Disease Susceptibility Loci using Patterns of Linkage Disequilibrium

por Lipman, Peter J, Yip, Wai-Ki, AlChawa, Taofik, Ludwig, Kerstin U, Mangold, Elisabeth, Lange, Christoph
Publicado 2011

A Complex Rearrangement in the APC Gene Uncovered by Multiplex Ligation-Dependent Probe Amplification

por Pagenstecher, Constanze, Gadzicki, Dorothea, Stienen, Dietlinde, Uhlhaas, Siegfried, Mangold, Elisabeth, Rahner, Nils, Arslan-Kirchner, Mine, Propping, Peter, Friedl, Waltraut, Aretz, Stefan
Publicado 2007

Genome-wide analysis of parent-of-origin effects in non-syndromic orofacial clefts

por Garg, Paras, Ludwig, Kerstin U, Böhmer, Anne C, Rubini, Michele, Steegers-Theunissen, Regine, Mossey, Peter A, Mangold, Elisabeth, Sharp, Andrew J
Publicado 2014

Challenges and Pitfalls in HNPCC Screening by Microsatellite Analysis and Immunohistochemistry

por Müller, Annegret, Giuffre, Giuseppe, Edmonston, Tina Bocker, Mathiak, Micaela, Roggendorf, Beate, Heinmöller, Ernst, Brodegger, Thomas, Tuccari, Giovanni, Mangold, Elisabeth, Buettner, Reinhard, Rüschoff, Josef
Publicado 2004

‘Location, Location, Location’: a spatial approach for rare variant analysis and an application to a study on non-syndromic cleft lip with or without cleft palate

por Fier, Heide, Won, Sungho, Prokopenko, Dmitry, AlChawa, Taofik, Ludwig, Kerstin U., Fimmers, Rolf, Silverman, Edwin K., Pagano, Marcello, Mangold, Elisabeth, Lange, Christoph
Publicado 2012

Congenital diaphragmatic hernia in a case of Cat eye syndrome

por Alsat, Ebru Aileen, Reutter, Heiko, Bagci, Soyhan, Kipfmueller, Florian, Engels, Hartmut, Raff, Ruth, Mangold, Elisabeth, Gembruch, Ulrich, Geipel, Annegret, Müller, Andreas, Schaible, Thomas
Publicado en Clin Case Rep (2018)

Analysis of Rare APC Variants at the mRNA Level: Six Pathogenic Mutations and Literature Review

por Kaufmann, Astrid, Vogt, Stefanie, Uhlhaas, Siegfried, Stienen, Dietlinde, Kurth, Ingo, Hameister, Horst, Mangold, Elisabeth, Kötting, Judith, Kaminsky, Elke, Propping, Peter, Friedl, Waltraut, Aretz, Stefan
Publicado 2009

p63 establishes epithelial enhancers at critical craniofacial development genes

por Lin-Shiao, Enrique, Lan, Yemin, Welzenbach, Julia, Alexander, Katherine A., Zhang, Zhen, Knapp, Michael, Mangold, Elisabeth, Sammons, Morgan, Ludwig, Kerstin U., Berger, Shelley L.
Publicado en Sci Adv (2019)

Inferring rare disease risk variants based on exact probabilities of sharing by multiple affected relatives

por Bureau, Alexandre, Younkin, Samuel G., Parker, Margaret M., Bailey-Wilson, Joan E., Marazita, Mary L., Murray, Jeffrey C., Mangold, Elisabeth, Albacha-Hejazi, Hasan, Beaty, Terri H., Ruczinski, Ingo
Publicado 2014

Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa

por Birtel, Johannes, Gliem, Martin, Mangold, Elisabeth, Müller, Philipp L., Holz, Frank G., Neuhaus, Christine, Lenzner, Steffen, Zahnleiter, Diana, Betz, Christian, Eisenberger, Tobias, Bolz, Hanno J., Charbel Issa, Peter
Publicado en PLoS One (2018)

Evaluating shared genetic influences on nonsyndromic cleft lip/palate and oropharyngeal neoplasms

por Howe, Laurence J., Hemani, Gibran, Lesseur, Corina, Gaborieau, Valérie, Ludwig, Kerstin U., Mangold, Elisabeth, Brennan, Paul, Ness, Andy R., St Pourcain, Beate, Davey Smith, George, Lewis, Sarah J.
Publicado en Genet Epidemiol (2020)

Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy

por Birtel, Johannes, Eisenberger, Tobias, Gliem, Martin, Müller, Philipp L., Herrmann, Philipp, Betz, Christian, Zahnleiter, Diana, Neuhaus, Christine, Lenzner, Steffen, Holz, Frank G., Mangold, Elisabeth, Bolz, Hanno J., Charbel Issa, Peter
Publicado en Sci Rep (2018)

Genotype–phenotype relationship in three cases with overlapping 19p13.12 microdeletions

por Bonaglia, Maria C, Marelli, Susan, Novara, Francesca, Commodaro, Simona, Borgatti, Renato, Minardo, Grazia, Memo, Luigi, Mangold, Elisabeth, Beri, Silvana, Zucca, Claudio, Brambilla, Daniele, Molteni, Massimo, Giorda, Roberto, Weber, Ruthild G, Zuffardi, Orsetta
Publicado 2010

Monoallelic ABCA4 Mutations Appear Insufficient to Cause Retinopathy: A Quantitative Autofluorescence Study

por Müller, Philipp L., Gliem, Martin, Mangold, Elisabeth, Bolz, Hanno J., Finger, Robert P., McGuinness, Myra, Betz, Christian, Jiang, Zhichun, Weber, Bernhard H. F., MacLaren, Robert E., Holz, Frank G., Radu, Roxana A., Charbel Issa, Peter
Publicado en Invest Ophthalmol Vis Sci (2015)

Whole Exome Association of Rare Deletions in Multiplex Oral Cleft Families

por Fu, Jack, Beaty, Terri H., Scott, Alan F., Hetmanski, Jacqueline, Parker, Margaret M., Wilson, Joan E. Bailey, Marazita, Mary L., Mangold, Elisabeth, Albacha-Hejazi, Hasan, Murray, Jeffrey C., Bureau, Alexandre, Carey, Jacob, Cristiano, Stephen, Ruczinski, Ingo, Scharpf, Robert B.
Publicado en Genet Epidemiol (2016)

Nonsyndromic cleft lip with or without cleft palate and cancer: Evaluation of a possible common genetic background through the analysis of GWAS data

por Dunkhase, Eva, Ludwig, Kerstin U., Knapp, Michael, Skibola, Christine F., Figueiredo, Jane C., Hosking, Fay Julie, Ellinghaus, Eva, Landi, Maria Teresa, Ma, Hongxia, Nakagawa, Hidewaki, Kim, Jong-Won, Han, Jiali, Yang, Ping, Böhmer, Anne C., Mattheisen, Manuel, Nöthen, Markus M., Mangold, Elisabeth
Publicado en Genom Data (2016)