Schuster J - Search Results

1

Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families.

Zulfiqar S, Tariq M, Ali Z, Fatima A, Klar J, Abdullah U, Ali A, Ramzan S, He S, Zhang J, Khan A, Shah S, Khan S, Makhdoom EH, Schuster J, Dahl N, Baig SM. Zulfiqar S, et al. Among authors: schuster j. J Clin Neurosci. 2019 Sep;67:19-23. doi: 10.1016/j.jocn.2019.06.039. Epub 2019 Jul 4. J Clin Neurosci. 2019. PMID: 31281085

2

A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia.

Rasool M, Schuster J, Aslam M, Tariq M, Ahmad I, Ali A, Entesarian M, Dahl N, Baig SM. Rasool M, et al. Among authors: schuster j. J Hum Genet. 2008;53(10):894-898. doi: 10.1007/s10038-008-0323-x. Epub 2008 Aug 9. J Hum Genet. 2008. PMID: 18688569

3

Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure.

Mansouri MR, Schuster J, Badhai J, Stattin EL, Lösel R, Wehling M, Carlsson B, Hovatta O, Karlström PO, Golovleva I, Toniolo D, Bione S, Peluso J, Dahl N. Mansouri MR, et al. Among authors: schuster j. Hum Mol Genet. 2008 Dec 1;17(23):3776-83. doi: 10.1093/hmg/ddn274. Epub 2008 Sep 9. Hum Mol Genet. 2008. PMID: 18782852 Free PMC article.

4

Posttranscriptional down-regulation of small ribosomal subunit proteins correlates with reduction of 18S rRNA in RPS19 deficiency.

Badhai J, Fröjmark AS, Razzaghian HR, Davey E, Schuster J, Dahl N. Badhai J, et al. Among authors: schuster j. FEBS Lett. 2009 Jun 18;583(12):2049-53. doi: 10.1016/j.febslet.2009.05.023. Epub 2009 May 18. FEBS Lett. 2009. PMID: 19454283 Free PMC article.

5

Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene.

Stattin EL, Lindén B, Lönnerholm T, Schuster J, Dahl N. Stattin EL, et al. Among authors: schuster j. Eur J Med Genet. 2009 Sep-Oct;52(5):297-302. doi: 10.1016/j.ejmg.2009.05.008. Epub 2009 May 21. Eur J Med Genet. 2009. PMID: 19464397

6

WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome.

Nawaz S, Klar J, Wajid M, Aslam M, Tariq M, Schuster J, Baig SM, Dahl N. Nawaz S, et al. Among authors: schuster j. Eur J Hum Genet. 2009 Dec;17(12):1600-5. doi: 10.1038/ejhg.2009.81. Epub 2009 May 27. Eur J Hum Genet. 2009. PMID: 19471313 Free PMC article.

7

Targeted resequencing and analysis of the Diamond-Blackfan anemia disease locus RPS19.

Martinez Barrio A, Eriksson O, Badhai J, Fröjmark AS, Bongcam-Rudloff E, Dahl N, Schuster J. Martinez Barrio A, et al. Among authors: schuster j. PLoS One. 2009 Jul 9;4(7):e6172. doi: 10.1371/journal.pone.0006172. PLoS One. 2009. PMID: 19587786 Free PMC article.

8

Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia.

Badhai J, Fröjmark AS, J Davey E, Schuster J, Dahl N. Badhai J, et al. Among authors: schuster j, j davey e. Biochim Biophys Acta. 2009 Oct;1792(10):1036-42. doi: 10.1016/j.bbadis.2009.08.002. Epub 2009 Aug 16. Biochim Biophys Acta. 2009. PMID: 19689926 Free PMC article.

9

Cooperative effect of ribosomal protein s19 and Pim-1 kinase on murine c-Myc expression and myeloid/erythroid cellularity.

Fröjmark AS, Badhai J, Klar J, Thuveson M, Schuster J, Dahl N. Fröjmark AS, et al. Among authors: schuster j. J Mol Med (Berl). 2010 Jan;88(1):39-46. doi: 10.1007/s00109-009-0558-9. Epub 2009 Nov 8. J Mol Med (Berl). 2010. PMID: 19898770

10

A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis.

Dahlqvist J, Klar J, Tiwari N, Schuster J, Törmä H, Badhai J, Pujol R, van Steensel MA, Brinkhuizen T, Gijezen L, Chaves A, Tadini G, Vahlquist A, Dahl N. Dahlqvist J, et al. Among authors: schuster j. Am J Hum Genet. 2010 Apr 9;86(4):596-603. doi: 10.1016/j.ajhg.2010.02.018. Epub 2010 Mar 11. Am J Hum Genet. 2010. PMID: 20226437 Free PMC article.

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