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Page 1
Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.
Di Donato N, Neuhann T, Kahlert AK, Klink B, Hackmann K, Neuhann I, Novotna B, Schallner J, Krause C, Glass IA, Parnell SE, Benet-Pages A, Nissen AM, Berger W, Altmüller J, Thiele H, Weber BH, Schrock E, Dobyns WB, Bier A, Rump A. Di Donato N, et al. Among authors: bier a. J Med Genet. 2016 Jun;53(6):419-25. doi: 10.1136/jmedgenet-2015-103511. Epub 2016 Feb 3. J Med Genet. 2016. PMID: 26843489
Clinical and mutational spectrum of Mowat-Wilson syndrome.
Zweier C, Thiel CT, Dufke A, Crow YJ, Meinecke P, Suri M, Ala-Mello S, Beemer F, Bernasconi S, Bianchi P, Bier A, Devriendt K, Dimitrov B, Firth H, Gallagher RC, Garavelli L, Gillessen-Kaesbach G, Hudgins L, Kääriäinen H, Karstens S, Krantz I, Mannhardt A, Medne L, Mücke J, Kibaek M, Krogh LN, Peippo M, Rittinger O, Schulz S, Schelley SL, Temple IK, Dennis NR, Van der Knaap MS, Wheeler P, Yerushalmi B, Zenker M, Seidel H, Lachmeijer A, Prescott T, Kraus C, Lowry RB, Rauch A. Zweier C, et al. Among authors: bier a. Eur J Med Genet. 2005 Apr-Jun;48(2):97-111. doi: 10.1016/j.ejmg.2005.01.003. Epub 2005 Feb 25. Eur J Med Genet. 2005. PMID: 16053902
The p53 codon 72 variation is associated with the age of onset of hereditary non-polyposis colorectal cancer (HNPCC).
Krüger S, Bier A, Engel C, Mangold E, Pagenstecher C, von Knebel Doeberitz M, Holinski-Feder E, Moeslein G, Schulmann K, Plaschke J, Rüschoff J, Schackert HK; German Hereditary Non-Polyposis Colorectal Cancer Consortium. Krüger S, et al. Among authors: bier a. J Med Genet. 2005 Oct;42(10):769-73. doi: 10.1136/jmg.2004.028506. J Med Genet. 2005. PMID: 16199549 Free PMC article.
Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1.
Krüger S, Kinzel M, Walldorf C, Gottschling S, Bier A, Tinschert S, von Stackelberg A, Henn W, Görgens H, Boue S, Kölble K, Büttner R, Schackert HK. Krüger S, et al. Among authors: bier a. Eur J Hum Genet. 2008 Jan;16(1):62-72. doi: 10.1038/sj.ejhg.5201923. Epub 2007 Sep 12. Eur J Hum Genet. 2008. PMID: 17851451
Identification of six novel MSH2 and MLH1 germline mutations in HNPCC.
Krüger S, Plaschke J, Jeske B, Görgens H, Pistorius SR, Bier A, Kreuz FR, Theissig F, Aust DE, Saeger HD, Schackert HK. Krüger S, et al. Among authors: bier a. Hum Mutat. 2003 Apr;21(4):445-6. doi: 10.1002/humu.9121. Hum Mutat. 2003. PMID: 12655562
Ten novel MSH2 and MLH1 germline mutations in families with HNPCC.
Krüger S, Bier A, Plaschke J, Höhl R, Aust DE, Kreuz FR, Pistorius SR, Saeger HD, Rothhammer V, Al-Taie O, Schackert HK. Krüger S, et al. Among authors: bier a. Hum Mutat. 2004 Oct;24(4):351-2. doi: 10.1002/humu.9278. Hum Mutat. 2004. PMID: 15365996
Absence of association between cyclin D1 (CCND1) G870A polymorphism and age of onset in hereditary nonpolyposis colorectal cancer.
Krüger S, Engel C, Bier A, Mangold E, Pagenstecher C, Doeberitz Mv, Holinski-Feder E, Moeslein G, Keller G, Kunstmann E, Friedl W, Plaschke J, Rüschoff J, Schackert HK; German HNPCC-Consortium. Krüger S, et al. Among authors: bier a. Cancer Lett. 2006 May 18;236(2):191-7. doi: 10.1016/j.canlet.2005.05.013. Cancer Lett. 2006. PMID: 16832876
72 results