Disruption of the FA/BRCA pathway in bladder cancer
Neveling, K., Kalb, R., Florl, A.R., Herterich, S., Friedl, R., Hoehn, H., Hader, C., Hartmann, F.H., Nanda, I., Steinlein, C., Schmid, M., Tönnies, H., Hurst, C.D., Knowles, M.A., Hanenberg, H., Schulz, W.A., Schindler, D.
Published in Cytogenetic and genome research (01.01.2007)
Published in Cytogenetic and genome research (01.01.2007)
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Journal Article
Genetic instability syndromes with progeroid features
Neveling, K, Bechtold, A, Hoehn, H
Published in Zeitschrift für Gerontologie und Geriatrie (01.10.2007)
Published in Zeitschrift für Gerontologie und Geriatrie (01.10.2007)
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Journal Article
23P Establishing the genetic diagnosis in patients with suspected recessive titinopathy
Mueller, J., Savarese, M., Lillback, V., Perry, L., Zaharieva, I., Pini, V., Sagath, L., Steyaert, W., Hoischen, A., Yepez, V., Esteve-Codina, A., Neveling, K., Topf, A., Muntoni, F., Sarkozy, A.
Published in Neuromuscular disorders : NMD (01.10.2024)
Published in Neuromuscular disorders : NMD (01.10.2024)
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Journal Article
Cost‐effective molecular inversion probe‐based ABCA4 sequencing reveals deep‐intronic variants in Stargardt disease
Khan, Mubeen, Cornelis, Stéphanie S., Khan, Muhammad Imran, Elmelik, Duaa, Manders, Eline, Bakker, Sem, Derks, Ronny, Neveling, Kornelia, Vorst, Maartje, Gilissen, Christian, Meunier, Isabelle, Defoort, Sabine, Puech, Bernard, Devos, Aurore, Schulz, Heidi L., Stöhr, Heidi, Grassmann, Felix, Weber, Bernhard H. F., Dhaenens, Claire‐Marie, Cremers, Frans P. M.
Published in Human mutation (01.10.2019)
Published in Human mutation (01.10.2019)
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Journal Article
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia
Levran, Orna, Milton, Kelly L, Henry, Rashida T, Neveling, Kornelia, Ott, Jurg, Attwooll, Claire, Rio, Paula, Schindler, Detlev, Petrini, John, Batish, Sat Dev, Auerbach, Arleen D, Velleuer, Eunike, Kalb, Reinhard, Barral, Sandra, Hanenberg, Helmut
Published in Nature genetics (01.09.2005)
Published in Nature genetics (01.09.2005)
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Journal Article
Long-read genome sequencing required to resolve complex chromosomal rearrangements involving both the short and the long arm of chromosome 21
Schuy, J, Saether, KB, Lisfeld, J, Ek, M, Grochowski, CM, Rudolph, S, Fuchs, S, Neveling, K, Hempel, M, Hoischen, A, Hastie, A, Carvalho, C, Eisfeldt, J, Lindstrand, A
Published in EUROPEAN JOURNAL OF HUMAN GENETICS (2024)
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Published in EUROPEAN JOURNAL OF HUMAN GENETICS (2024)
Conference Proceeding
Hypomorphic Mutations in the Gene Encoding a Key Fanconi Anemia Protein, FANCD2, Sustain a Significant Group of FA-D2 Patients with Severe Phenotype
Kalb, Reinhard, Neveling, Kornelia, Hoehn, Holger, Schneider, Hildegard, Linka, Yvonne, Batish, Sat Dev, Hunt, Curtis, Berwick, Marianne, Callén, Elsa, Surrallés, Jordi, Casado, José A., Bueren, Juan, Dasí, Ángeles, Soulier, Jean, Gluckman, Eliane, Zwaan, C. Michel, van Spaendonk, Rosalina, Pals, Gerard, de Winter, Johan P., Joenje, Hans, Grompe, Markus, Auerbach, Arleen D., Hanenberg, Helmut, Schindler, Detlev
Published in American journal of human genetics (01.05.2007)
Published in American journal of human genetics (01.05.2007)
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Journal Article
Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families
Ajmal, Muhammad, Khan, Muhammad Imran, Neveling, Kornelia, Khan, Yar Muhammad, Ali, Syeda Hafiza Benish, Ahmed, Waqas, Iqbal, Muhammad Safdar, Azam, Maleeha, den Hollander, Anneke I, Collin, Rob W J, Qamar, Raheel, Cremers, Frans P M
Published in Molecular vision (13.06.2012)
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Published in Molecular vision (13.06.2012)
Journal Article
A comprehensive strategy for the subtyping of patients with Fanconi anaemia: conclusions from the Spanish Fanconi Anemia Research Network
Antonio Casado, José, Callén, Elsa, Jacome, Ariana, Río, Paula, Castella, Maria, Lobitz, Stephan, Ferro, Teresa, Muñoz, Arturo, Sevilla, Julián, Cantalejo, Ángeles, Cela, Elena, Cervera, José, Sánchez-Calero, Jesús, Badell, Isabel, Estella, Jesús, Dasí, Ángeles, Olivé, Teresa, José Ortega, Juan, Rodriguez-Villa, Antonia, Tapia, María, Molinés, Antonio, Madero, Luis, Segovia, José C, Neveling, Kornelia, Kalb, Reinhard, Schindler, Detlev, Hanenberg, Helmut, Surrallés, Jordi, Bueren, Juan A
Published in Journal of medical genetics (01.04.2007)
Published in Journal of medical genetics (01.04.2007)
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Journal Article
Delayed diagnosis and complications of Fanconi anaemia at advanced age – a paradigm
Huck, Kirsten, Hanenberg, Helmut, Gudowius, Sonja, Fenk, Roland, Kalb, Reinhard, Neveling, Kornelia, Betz, Beate, Niederacher, Dieter, Haas, Rainer, Göbel, Ulrich, Kobbe, Guido, Schindler, Detlev
Published in British journal of haematology (01.04.2006)
Published in British journal of haematology (01.04.2006)
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Journal Article
PW03-007 - NLRP3 genetic variants in Schnitzler’s syndrome
De Koning, HD, Schalkwijk, J, van der Meer, JW, Zeeuwen, PL, Neveling, K, van Gijn, M, Simon, A
Published in Pediatric rheumatology online journal (08.11.2013)
Published in Pediatric rheumatology online journal (08.11.2013)
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Journal Article
Genetics and Diagnostics of Retinitis Pigmentosa
CREMERS, FPM, NEVELING, K, ESTRADA‐CUZCANO, A, VELTMAN, JA, SCHEFFER, H, KLEVERING, BJ, DEN HOLLANDER, AI, COLLIN, RWJ
Published in Acta ophthalmologica (Oxford, England) (01.09.2011)
Published in Acta ophthalmologica (Oxford, England) (01.09.2011)
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Journal Article
OR11-002 - Mutations in MVK cause non-syndromic RP
Siemiatkowska, AM, Stoffels, M, Neveling, K, Simon, A, van Hagen, PM, den Hollander, AI, Cremers, FP, van den Born, LI, Collin, RW
Published in Pediatric rheumatology online journal (08.11.2013)
Published in Pediatric rheumatology online journal (08.11.2013)
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Journal Article
Addendum: The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia
Levran, O, Attwooll, C, Henry, R T, Milton, K L, Neveling, K, Rio, P, Batish, S D, Kalb, R, Velleuer, E, Barral, S, Ott, J, Petrini, J, Schindler, D, Hanenberg, H, Auerbach, A D
Published in Nature genetics (01.11.2005)
Published in Nature genetics (01.11.2005)
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Journal Article
Exclusion/confirmation of Ataxia-telangiectasia via cell-cycle testing
HEINRICH, Tilman, PROWALD, Carolin, FRIEDL, Richard, GOTTWALD, Benni, KALB, Reinhard, NEVELING, Kornelia, HERTERICH, Sabine, HOEHN, Holger, SCHINDLER, Detlev
Published in European journal of pediatrics (01.04.2006)
Published in European journal of pediatrics (01.04.2006)
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