Wichtige Publikationen der letzten Jahre

Humangenetik

Direktor:
Prof. Dr. med. André Reis

Ausgewählte Publikationen

  •  Zweier C, Kraus C, Brueton L, Cole T, Degenhardt F, Engels H, Gillessen-Kaesbach G, Graul-Neumann L, Horn D, Hoyer J, Just W, Rauch A, Reis A, Wollnik B, Zeschnigk M, Lüdecke HJ, Wieczorek D. (2013). A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.
    J Med Genet. [Epub ahead of print] MEDLINE
  • Gregor A, Oti M, Kouwenhoven EN, Hoyer J, Sticht H, Ekici AB, Kjaergaard S, Rauch A, Stunnenberg HG, Uebe S, Vasileiou G, Reis A, Zhou H, Zweier C. (2013). De novo mutations in the genome organizer CTCF cause intellectual disability. Am J Hum Genet. 93(1):124-31. MEDLINE
  • Gregor A, Krumbiegel M, Kraus C, Reis A, Zweier C. (2012). De Novo Triplication of the MAPT Gene from the Recurrent 17q21.31 Microdeletion Region in a Patient with Moderate Intellectual Disability and Various Minor Anomalies.                                                                                                     Am J Med Genet A. 158A:1765-70. MEDLINE
  • Wolff D, Endele S, Azzarello-Burri S, Hoyer J, Zweier M, Schanze I, Schmitt B, Rauch A, Reis A, Zweier C. (2011). In frame deletion and missense mutations of the C-terminal helicase domain of SMARCA2 in three patients with Nicolaides-Baraitser syndrome.
    Mol Syndromol. DOI:10.1159/000337323. MEDLINE 
  • Gregor A, Albrecht B, Bader I, Bijlsma EK, Ekici AB, Engels H, Hackmann K, Horn D, Hoyer J, Klapecki J, Kohlhase J, Maystadt I, Nagl S, Prott E, Tinschert S, Ullmann R, Wohlleber E, Woods G, Reis A, Rauch A, Zweier C. (2011). Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. BMC Med Genet. 12:106. MEDLINE
  • Zweier M, Gregor A, Zweier C, Engels H, Sticht H, Wohlleber E, Bijlsma EK, Holder SE, Zenker M, Rossier E, Grasshoff U, Johnson DS, Robertson L, Firth HV; Cornelia Kraus, Ekici AB, Reis A, Rauch A. Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. (2012).
    Hum Mutat. 31:722-33. MEDLINE
  • Zweier C, de Jong EK, Zweier M, Orrico A, Ousager LB, Collins AL, Bijlsma EK, Oortveld MA, Ekici AB, Reis A, Schenck A, Rauch A. CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. (2009).
    Am J Hum Genet. 85:655-66. MEDLINE
  • Zweier C, Sticht H, Bijlsma E, Clayton-Smith J, Boonen SE, Fryer A, Greally MT, Hoffmann L, den Hollander NS, Jongmans M, Kant SG, King MD, Lynch SA, McKee S, Midro AT, Park SM, Ricotti V, Tarantino E, Wessels M, Peippo M, Rauch A. (2008). Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of sixteen novel patients.
    J Med Genet. 45:738-44. MEDLINE
  • Zweier C, Peippo MM, Hoyer J, Sousa S, Bottani A, Clayton-Smith J, Reardon W, Saraiva J, Cabral A, Gohring I, Devriendt K, de Ravel T, Bijlsma EK, Hennekam RC, Orrico A, Cohen M, Dreweke A, Reis A, Nurnberg P, Rauch A. (2007). Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).
    Am J Hum Genet. 80:994-1001. MEDLINE
  • Zweier C, Sticht H, Aydin-Yaylagül I, Campbell CE, Rauch A. (2007). Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.
    Am J Hum Genet. 80:510-7. MEDLINE

 

 

 

 

 
 
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