Jamsheer A - Search Results

1

Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations.

Jamsheer A, Sowińska A, Trzeciak T, Jamsheer-Bratkowska M, Geppert A, Latos-Bieleńska A. Jamsheer A, et al. Among authors: jamsheer bratkowska m. J Appl Genet. 2012 Nov;53(4):415-22. doi: 10.1007/s13353-012-0109-x. Epub 2012 Aug 18. J Appl Genet. 2012. PMID: 22903559 Free PMC article.

2

Subtle familial translocation t(11;22)(q24.2;q13.33) resulting in Jacobsen syndrome and distal trisomy 22q13.3: further details of genotype-phenotype maps.

Jamsheer A, Smyk M, Wierzba J, Kołowska J, Woźniak A, Skołozdrzy J, Fischer M, Latos-Bieleńska A. Jamsheer A, et al. J Appl Genet. 2008;49(4):397-405. doi: 10.1007/BF03195639. J Appl Genet. 2008. PMID: 19029687

3

Comparative study of clinical characteristics of amniotic rupture sequence with and without body wall defect: further evidence for separation.

Jamsheer A, Materna-Kiryluk A, Badura-Stronka M, Wiśniewska K, Wieckowska B, Mejnartowicz J, Balcar-Boroń A, Borszewska-Kornacka M, Czerwionka-Szaflarska M, Gajewska E, Godula-Stuglik U, Krawczynski M, Limon J, Rusin J, Sawulicka-Oleszczuk H, Szwałkiewicz-Warowicka E, Swietliński J, Walczak M, Latos-Bieleńska A. Jamsheer A, et al. Birth Defects Res A Clin Mol Teratol. 2009 Mar;85(3):211-5. doi: 10.1002/bdra.20555. Birth Defects Res A Clin Mol Teratol. 2009. PMID: 19180633

4

A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia.

Jamsheer A, Wisniewska M, Szpak A, Bugaj G, Krawczynski MR, Budny B, Wawrocka A, Latos-Bieleńska A. Jamsheer A, et al. J Appl Genet. 2009;50(3):297-9. doi: 10.1007/BF03195687. J Appl Genet. 2009. PMID: 19638688

5

A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability.

Jamsheer A, Henggeler C, Wierzba J, Loeys B, De Paepe A, Stheneur Ch, Badziag N, Matuszewska K, Matyas G, Latos-Bielenska A. Jamsheer A, et al. J Appl Genet. 2009;50(4):405-10. doi: 10.1007/BF03195701. J Appl Genet. 2009. PMID: 19875893 Review.

6

A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome.

Badura-Stronka M, Jamsheer A, Materna-Kiryluk A, Sowińska A, Kiryluk K, Budny B, Latos-Bieleńska A. Badura-Stronka M, et al. Among authors: jamsheer a. Clin Genet. 2010 Feb;77(2):141-4. doi: 10.1111/j.1399-0004.2009.01331.x. Epub 2009 Dec 10. Clin Genet. 2010. PMID: 20002452

7

A severe progressive oculodentodigital dysplasia due to compound heterozygous GJA1 mutation.

Jamsheer A, Badura-Stronka M, Sowińska A, Debicki S, Kiryluk K, Latos-Bieleńska A. Jamsheer A, et al. Clin Genet. 2010 Jul;78(1):94-7. doi: 10.1111/j.1399-0004.2010.01412.x. Clin Genet. 2010. PMID: 20597923 No abstract available.

8

Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family.

Baasanjav S, Jamsheer A, Kolanczyk M, Horn D, Latos T, Hoffmann K, Latos-Bielenska A, Mundlos S. Baasanjav S, et al. Among authors: jamsheer a. BMC Med Genet. 2010 Jul 9;11:110. doi: 10.1186/1471-2350-11-110. BMC Med Genet. 2010. PMID: 20618940 Free PMC article.

9

Maternal reproductive history and the risk of isolated congenital malformations.

Materna-Kiryluk A, Więckowska B, Wiśniewska K, Borszewska-Kornacka MK, Godula-Stuglik U, Limon J, Rusin J, Sawulicka-Oleszczuk H, Szwałkiewicz-Warowicka E, Walczak M; Members of PRCM Working Group. Materna-Kiryluk A, et al. Paediatr Perinat Epidemiol. 2011 Mar;25(2):135-43. doi: 10.1111/j.1365-3016.2010.01186.x. Epub 2011 Jan 12. Paediatr Perinat Epidemiol. 2011. PMID: 21281326

10

PAX6 3' deletion in a family with aniridia.

Wawrocka A, Budny B, Debicki S, Jamsheer A, Sowinska A, Krawczynski MR. Wawrocka A, et al. Among authors: jamsheer a. Ophthalmic Genet. 2012 Mar;33(1):44-8. doi: 10.3109/13816810.2011.615076. Epub 2011 Oct 10. Ophthalmic Genet. 2012. PMID: 21985185

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

99 results

Search Page

Filters