↓ Direkt till sidans innehåll
↓ Direkt till sidans sekundära innehåll (sidomenyn)

Träfflista för sökning "WFRF:(Lagerstedt Robinson K.) srt2:(2010-2014)"

Search: WFRF:(Lagerstedt Robinson K.) > (2010-2014)

Result 1-4 of 4

Sort/group result

Sort by: Hits per page:

Enumeration	Reference	Cover	Find
1.	Out, AA, et al. (author) Leiden Open Variation Database of the MUTYH gene 2010 In: Human mutation. - : Hindawi Limited. - 1098-1004 .- 1059-7794. ; 31:11, s. 1205-1215 Journal article (peer-reviewed)
2.	Barbaro, M, et al. (author) Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis 2012 In: International journal of endocrinology. - : Hindawi Limited. - 1687-8345 .- 1687-8337. ; 2012, s. 504904- Journal article (peer-reviewed)abstract A 160 kb minimal common region in Xp21 has been determined as the cause of XY gonadal dysgenesis, if duplicated. The region contains theMAGEBgenes and theNR0B1gene; this is the candidate for gonadal dysgenesis if overexpressed. Most patients present gonadal dysgenesis within a more complex phenotype. However, few independent cases have recently been described presenting with isolated XY gonadal dysgenesis caused by relatively smallNR0B1locus duplications. We have identified anotherNR0B1duplication in two sisters with isolated XY gonadal dysgenesis with an X-linked inheritance pattern. We performed X-inactivation studies in three fertile female carriers of three different smallNR0B1locus duplications identified by our group. The carrier mothers did not show obvious skewing of X-chromosome inactivation, suggesting thatNR0B1overexpression does not impair ovarian function. We furthermore emphasize the importance to investigate theNR0B1locus also in patients with isolated XY gonadal dysgenesis.
3.	Chen, YG, et al. (author) Mutational study of the MAMLD1-gene in hypospadias 2010 In: European journal of medical genetics. - : Elsevier BV. - 1878-0849 .- 1769-7212. ; 53:3, s. 122-126 Journal article (peer-reviewed)
4.	Lindstrand, A, et al. (author) Different mutations in PDE4D associated with developmental disorders with mirror phenotypes 2014 In: Journal of medical genetics. - : BMJ. - 1468-6244 .- 0022-2593. ; 51:1, s. 45-54 Journal article (peer-reviewed)

Skapa referenser, mejla, bekava och länka

Permalink

Result 1-4 of 4

Refine your search

Type of publication: journal article (4)

Type of content: peer-reviewed (4)

Author/Editor: Lagerstedt-Robinson, ... (4); Cook, J. (1); Nordgren, A (1); Grigelioniene, G (1); Nilsson, D (1); Nordenskjold, M (1); show more...; Wedell, A (1); Thai, HTT (1); Nordenskjold, A (1); Markljung, E (1); Pettersson, M. (1); Devilee, P (1); Gustavsson, P (1); Makitie, O (1); van den Ouweland, AM ... (1); Lindstrand, A (1); Valta, H (1); Barbaro, M (1); Anderlid, BM (1); Wincent, J (1); Lundin, J (1); Nielsen, M. (1); Laurell, T. (1); Claes, K. (1); Fostira, F. (1); Taylan, F (1); Colas, C (1); Hogervorst, FBL (1); Ruivenkamp, CAL (1); Wijnen, JT (1); Scott, RJ (1); Chen, YG (1); Olschwang, S (1); Fodde, R (1); Hodgson, SV (1); Buisine, MP (1); Zhao, ST (1); Pekkinen, M (1); Sampson, JR (1); Aretz, S (1); Heinimann, K (1); Holinski-Feder, E (1); Den Dunnen, JT (1); Geiberger, S (1); Hofmeister, W (1); Topa, A. (1); Tops, CMJ (1); Kant, SG (1); Wikman, FP (1); Out, AA (1); show less...

University: Karolinska Institutet (4)

Language: English (4)

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.

Copyright © LIBRIS - National Library Systems
LIBRIS.kb.se

pil uppåt

Close

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