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Items: 15

1.

Life-threatening cardiac episode in a Polish patient carrying contiguous gene microdeletion of the TBX5 and the TBX3 genes.

Iwanicka-Pronicka K, Socha M, Jędrzejowska M, Krajewska-Walasek M, Jamsheer A.

Springerplus. 2016 Sep 21;5(1):1638.

2.

X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1-4 Genes.

Rojek A, Krawczynski MR, Jamsheer A, Sowinska-Seidler A, Iwaniszewska B, Malunowicz E, Niedziela M.

Int J Endocrinol. 2016;2016:5178953. doi: 10.1155/2016/5178953.

3.

Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene.

Sowińska-Seidler A, Piwecka M, Olech E, Socha M, Latos-Bieleńska A, Jamsheer A.

J Appl Genet. 2015 May;56(2):177-84. doi: 10.1007/s13353-014-0252-7.

4.

Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families.

Tayebi N, Jamsheer A, Flöttmann R, Sowinska-Seidler A, Doelken SC, Oehl-Jaschkowitz B, Hülsemann W, Habenicht R, Klopocki E, Mundlos S, Spielmann M.

Orphanet J Rare Dis. 2014 Jul 29;9:108. doi: 10.1186/s13023-014-0108-6.

5.

Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses.

Jamsheer A, Socha M, Sowińska-Seidler A, Telega K, Trzeciak T, Latos-Bieleńska A.

J Appl Genet. 2014 May;55(2):183-8. doi: 10.1007/s13353-014-0195-z.

6.

Split-hand/foot malformation - molecular cause and implications in genetic counseling.

Sowińska-Seidler A, Socha M, Jamsheer A.

J Appl Genet. 2014 Feb;55(1):105-15. doi: 10.1007/s13353-013-0178-5. Review.

7.

Epidemiology of isolated preaxial polydactyly type I: data from the Polish Registry of Congenital Malformations (PRCM).

Materna-Kiryluk A, Jamsheer A, Wisniewska K, Wieckowska B, Limon J, Borszewska-Kornacka M, Sawulicka-Oleszczuk H, Szwalkiewicz-Warowicka E, Latos-Bielenska A.

BMC Pediatr. 2013 Feb 19;13:26. doi: 10.1186/1471-2431-13-26.

8.

Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3.

Jamsheer A, Sowińska A, Simon D, Jamsheer-Bratkowska M, Trzeciak T, Latos-Bieleńska A.

BMC Med Genet. 2013 Jan 24;14:13. doi: 10.1186/1471-2350-14-13.

9.

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.

J Appl Genet. 2012 Nov;53(4):415-22. doi: 10.1007/s13353-012-0109-x.

10.

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

Jamsheer A, Sowińska A, Kaczmarek L, Latos-Bieleńska A.

BMC Med Genet. 2012 Jan 10;13:4. doi: 10.1186/1471-2350-13-4.

11.

MIA is a potential biomarker for tumour load in neurofibromatosis type 1.

Kolanczyk M, Mautner V, Kossler N, Nguyen R, Kühnisch J, Zemojtel T, Jamsheer A, Wegener E, Thurisch B, Tinschert S, Holtkamp N, Park SJ, Birch P, Kendler D, Harder A, Mundlos S, Kluwe L.

BMC Med. 2011 Jul 4;9:82. doi: 10.1186/1741-7015-9-82.

12.

The pro-BNP Serum Level and Echocardiographic Tissue Doppler Abnormalities in Patients with Beta Thalassemia Major.

Garadah TS, Mahdi N, Kassab S, Shoroqi IA, Abu-Taleb A, Jamsheer A.

Clin Med Insights Cardiol. 2010 Dec 20;4:135-41. doi: 10.4137/CMC.S6452.

13.

Pulsed and Tissue Doppler Echocardiographic Changes in Hypertensive Crisis with and without End Organ Damage.

Garadah T, Kassab S, Gabani S, Abu-Taleb A, Abdelatif A, Asef A, Shoroqi I, Jamsheer A.

Open J Cardiovasc Surg. 2011 Nov 28;4:17-24. doi: 10.4137/OJCS.S8094.

14.

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.

BMC Med Genet. 2010 Jul 9;11:110. doi: 10.1186/1471-2350-11-110.

15.

QTc Interval and QT Dispersion in Patients with Thalassemia Major: Electrocardiographic (EKG) and Echocardiographic Evaluation.

Garadah TS, Kassab S, Mahdi N, Abu-Taleb A, Jamsheer A.

Clin Med Insights Cardiol. 2010 Mar 18;4:31-7.

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