Jamsheer A - Search Results

1

Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene.

Jamsheer A, Sowińska-Seidler A, Olech EM, Socha M, Kozłowski K, Pyrkosz A, Trzeciak T, Materna-Kiryluk A, Latos-Bieleńska A. Jamsheer A, et al. J Hum Genet. 2016 May;61(5):457-61. doi: 10.1038/jhg.2015.172. Epub 2016 Jan 14. J Hum Genet. 2016. PMID: 26763883

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

Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report.

Jamsheer A, Sowińska A, Kaczmarek L, Latos-Bieleńska A. Jamsheer A, et al. BMC Med Genet. 2012 Jan 10;13:4. doi: 10.1186/1471-2350-13-4. BMC Med Genet. 2012. PMID: 22233338 Free PMC article.

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