Träfflista för sökning "WFRF:(Ropers Hans Hilger) srt2:(2003-2004)"

Sort/group result

Sort by: Hits per page:

Enumeration	Reference	Cover	Find
1.	Kalscheuer, Vera M, et al. (author) Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation 2003 In: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 35:4, s. 313-315 Journal article (peer-reviewed)abstract We found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clinical features in affected males include mental retardation, microcephaly, short stature, spastic paraplegia and midline defects. PQBP1 has previously been implicated in the pathogenesis of polyglutamine expansion diseases. Our findings link this gene to XLMR and shed more light on the pathogenesis of this common disorder.
2.	Shi, Wei, et al. (author) Chloroideremia gene product affects trophoblast development and vascularization in mouse extra-embryonic tissues 2004 In: Developmental Biology. - : Elsevier BV. - 0012-1606 .- 1095-564X. ; 272:1, s. 53-65 Journal article (peer-reviewed)

Skapa referenser, mejla, bekava och länka

Author/Editor: Ropers, Hans-Hilger (2); Nuber, Ulrike (1); Scherthan, Harry (1); Shi, Wei (1); Fundele, Reinald (1); Haas, Stefan (1); show more...; Yntema, Helger G (1); Gecz, Jozef (1); Turner, Gillian (1); Kalscheuer, Vera M. (1); van Bokhoven, Hans (1); Freude, Kristine (1); Musante, Luciana (1); Jensen, Lars R (1); Sefiani, Abdelaziz (1); Hoffmann, Kirsten (1); Moser, Bettina (1); Gurok, Ulf (1); Haesler, Sebastian (1); Aranda, Beatriz (1); Nshedjan, Arpik (1); Tzschach, Andreas (1); Hartmann, Nils (1); Roloff, Tim-Christop ... (1); Shoichet, Sarah (1); Hagens, Oliver (1); Tao, Jiong (1); Chelly, Jamel (1); Moraine, Claude (1); Fryns, Jean-Pierre (1); Hoeltzenbein, Maria (1); Scharff, Constance (1); Lenzner, Steffen (1); Hamel, Ben CJ (1); Schweigger, Susann (1); van den Hurk, José A ... (1); Alamo-Bethencourt, V ... (1); Mayer, Wolfgang (1); Winkens, Huub J. (1); Cremers, Frans PM (1); show less...

Research subject (UKÄ/SCB): Natural sciences (1); Medical and Health Sciences (1)

Year

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

Copy and save the link in order to return to this view