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Items: 1 to 50 of 57

1.

Phenotypic description of two adult brothers presenting with mild form of Smith-Lemli-Opitz syndrome.

Olech EM, Matuszewska K, Piechota M, Latos-Bieleńska A, Jamsheer A.

Clin Dysmorphol. 2019 Jul;28(3):154-156. doi: 10.1097/MCD.0000000000000276. No abstract available.

PMID:
30925529
2.

Rapidly Progressing Brain Atrophy in a Child With Developmental Regression.

Siedlarska M, Jamsheer A, Ciaston M, Strzelecka J, Jozwiak S.

Pediatr Neurol. 2019 May;94:80-81. doi: 10.1016/j.pediatrneurol.2018.11.009. Epub 2018 Nov 24. No abstract available.

PMID:
30635150
3.

Duplication of 10q24 locus: broadening the clinical and radiological spectrum.

Holder-Espinasse M, Jamsheer A, Escande F, Andrieux J, Petit F, Sowinska-Seidler A, Socha M, Jakubiuk-Tomaszuk A, Gerard M, Mathieu-Dramard M, Cormier-Daire V, Verloes A, Toutain A, Plessis G, Jonveaux P, Baumann C, David A, Farra C, Colin E, Jacquemont S, Rossi A, Mansour S, Ghali N, Moncla A, Lahiri N, Hurst J, Pollina E, Patch C, Ahn JW, Valat AS, Mezel A, Bourgeot P, Zhang D, Manouvrier-Hanu S.

Eur J Hum Genet. 2019 Apr;27(4):525-534. doi: 10.1038/s41431-018-0326-9. Epub 2019 Jan 8.

PMID:
30622331
4.

Correction to: Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation.

Sowińska-Seidler A, Olech EM, Socha M, Larysz D, Jamsheer A.

J Appl Genet. 2018 Nov;59(4):525. doi: 10.1007/s13353-018-0460-7.

PMID:
30145696
5.

Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation.

Sowińska-Seidler A, Olech EM, Socha M, Larysz D, Jamsheer A.

J Appl Genet. 2018 Aug;59(3):281-289. doi: 10.1007/s13353-018-0447-4. Epub 2018 May 29. Erratum in: J Appl Genet. 2018 Nov;59(4):525.

6.

Noncoding copy-number variations are associated with congenital limb malformation.

Flöttmann R, Kragesteen BK, Geuer S, Socha M, Allou L, Sowińska-Seidler A, Bosquillon de Jarcy L, Wagner J, Jamsheer A, Oehl-Jaschkowitz B, Wittler L, de Silva D, Kurth I, Maya I, Santos-Simarro F, Hülsemann W, Klopocki E, Mountford R, Fryer A, Borck G, Horn D, Lapunzina P, Wilson M, Mascrez B, Duboule D, Mundlos S, Spielmann M.

Genet Med. 2018 Jun;20(6):599-607. doi: 10.1038/gim.2017.154. Epub 2017 Oct 12.

PMID:
29236091
7.

Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations.

Walczak-Sztulpa J, Wawrocka A, Swiader-Lesniak A, Socha M, Jamsheer A, Drozdz D, Latos-Bielenska A, Zachwieja K.

Birth Defects Res. 2018 Mar 1;110(4):376-381. doi: 10.1002/bdr2.1151. Epub 2017 Nov 14.

PMID:
29134781
8.

Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene.

Skorczyk-Werner A, Chiang WC, Wawrocka A, Wicher K, Jarmuż-Szymczak M, Kostrzewska-Poczekaj M, Jamsheer A, Płoski R, Rydzanicz M, Pojda-Wilczek D, Weisschuh N, Wissinger B, Kohl S, Lin JH, Krawczyński MR.

Eur J Hum Genet. 2017 Nov;25(11):1210-1216. doi: 10.1038/ejhg.2017.131. Epub 2017 Aug 16.

9.

Clinical expression of Holt-Oram syndrome on the basis of own clinical experience considering prenatal diagnosis.

Walencka Z, Jamsheer A, Surmiak P, Baumert M, Jezela-Stanek A, Witek A, Materna-Kiryluk A, Latos-Bieleńska A, Socha M, Sowińska-Seidler A.

Ginekol Pol. 2016;87(10):706-710. doi: 10.5603/GP.2016.0072.

10.

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. eCollection 2016.

11.

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. Epub 2016 Aug 30.

12.

Prenatal diagnosis of Fraser syndrome using routine ultrasound examination, confirmed by exome sequencing: Report of a novel homozygous missense FRAS1 mutation.

Kornacki J, Sowińska-Seidler A, Socha M, Ropacka M, Jamsheer A.

Congenit Anom (Kyoto). 2017 Jan;57(1):37-38. doi: 10.1111/cga.12177. No abstract available.

PMID:
27341656
13.

Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach.

Olech EM, Zemojtel T, Sowińska-Seidler A, Mundlos S, Robinson PN, Karczewski M, Jamsheer A.

Pol J Pathol. 2016 Mar;67(1):78-83.

14.

Results from the Survey of Antibiotic Resistance (SOAR) 2011-13 in the Gulf States.

Jamsheer A, Rafay AM, Daoud Z, Morrissey I, Torumkuney D.

J Antimicrob Chemother. 2016 May;71 Suppl 1:i45-61. doi: 10.1093/jac/dkw064.

15.

Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.

Jamsheer A, Olech EM, Kozłowski K, Niedziela M, Sowińska-Seidler A, Obara-Moszyńska M, Latos-Bieleńska A, Karczewski M, Zemojtel T.

J Hum Genet. 2016 Jul;61(7):577-83. doi: 10.1038/jhg.2016.30. Epub 2016 Mar 31.

PMID:
27030147
16.

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.

J Hum Genet. 2016 May;61(5):457-61. doi: 10.1038/jhg.2015.172. Epub 2016 Jan 14.

PMID:
26763883
17.

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

Maas SM, Shaw AC, Bikker H, Lüdecke HJ, van der Tuin K, Badura-Stronka M, Belligni E, Biamino E, Bonati MT, Carvalho DR, Cobben J, de Man SA, Den Hollander NS, Di Donato N, Garavelli L, Grønborg S, Herkert JC, Hoogeboom AJ, Jamsheer A, Latos-Bielenska A, Maat-Kievit A, Magnani C, Marcelis C, Mathijssen IB, Nielsen M, Otten E, Ousager LB, Pilch J, Plomp A, Poke G, Poluha A, Posmyk R, Rieubland C, Silengo M, Simon M, Steichen E, Stumpel C, Szakszon K, Polonkai E, van den Ende J, van der Steen A, van Essen T, van Haeringen A, van Hagen JM, Verheij JB, Mannens MM, Hennekam RC.

Eur J Med Genet. 2015 May;58(5):279-92. doi: 10.1016/j.ejmg.2015.03.002. Epub 2015 Mar 16.

PMID:
25792522
18.

Prevalence of opportunistic infections in HIV-positive patients in Bahrain: a four-year review (2009-2013).

Saeed NK, Farid E, Jamsheer AE.

J Infect Dev Ctries. 2015 Jan 15;9(1):60-9. doi: 10.3855/jidc.4997.

19.

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. Epub 2014 Oct 23.

20.

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.

21.

Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families.

Sowińska-Seidler A, Badura-Stronka M, Latos-Bieleńska A, Stronka M, Jamsheer A.

Birth Defects Res A Clin Mol Teratol. 2014 Oct;100(10):764-71. doi: 10.1002/bdra.23298. Epub 2014 Sep 5.

PMID:
25196357
22.
23.

Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5.

Jamsheer A, Smigiel R, Jakubiak A, Zemojtel T, Socha M, Robinson PN, Mundlos S.

Birth Defects Res A Clin Mol Teratol. 2014 Apr;100(4):314-8. doi: 10.1002/bdra.23239. Epub 2014 Apr 7.

PMID:
24706454
24.

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. Epub 2014 Feb 15.

25.

Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum.

Jamsheer A, Sowińska-Seidler A, Socha M, Stembalska A, Kiraly-Borri C, Latos-Bieleńska A.

Gene. 2014 Apr 10;539(1):157-61. doi: 10.1016/j.gene.2014.01.066. Epub 2014 Feb 6.

PMID:
24508941
26.

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. Epub 2013 Oct 27. Review.

27.

[Risk estimation of different pregnancy outcomes in the families of carriers of reciprocal chromosomal translocations involving chromosome 20].

Stasiewicz-Jarocka B, Kozaczuk M, Panasiuk B, Jamsheer A, Latos-Bieleńska A, Midro AT.

Ginekol Pol. 2013 Jun;84(6):422-9. Polish.

PMID:
24032259
28.

Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion.

Jamsheer A, Zemojtel T, Kolanczyk M, Stricker S, Hecht J, Krawitz P, Doelken SC, Glazar R, Socha M, Mundlos S.

J Med Genet. 2013 Sep;50(9):579-84. doi: 10.1136/jmedgenet-2013-101659. Epub 2013 May 24.

PMID:
23709756
29.

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.

30.

Hypothalamic amenorrhea in a Camurati-Engelmann disease--a case report.

Meczekalski B, Czyzyk A, Podfigurna-Stopa A, Rydzewski B, Sroczynski J, Lipinska M, Sokalski J, Krawczynski M, Jamsheer A, Katulski K, Genazzani A.

Gynecol Endocrinol. 2013 May;29(5):511-4. doi: 10.3109/09513590.2012.760196. Epub 2013 Feb 1. Review.

PMID:
23368730
31.

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.

32.

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. Epub 2012 Aug 18.

33.

Three new patients with FATCO: fibular agenesis with ectrodactyly.

Bieganski T, Jamsheer A, Sowinska A, Baranska D, Niedzielski K, Kozlowski K, Czarny-Ratajczak M.

Am J Med Genet A. 2012 Jul;158A(7):1542-50. doi: 10.1002/ajmg.a.35369. Epub 2012 May 24.

PMID:
22628253
34.

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.

35.

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.

Klopocki E, Lohan S, Doelken SC, Stricker S, Ockeloen CW, Soares Thiele de Aguiar R, Lezirovitz K, Mingroni Netto RC, Jamsheer A, Shah H, Kurth I, Habenicht R, Warman M, Devriendt K, Kordass U, Hempel M, Rajab A, Mäkitie O, Naveed M, Radhakrishna U, Antonarakis SE, Horn D, Mundlos S.

J Med Genet. 2012 Feb;49(2):119-25. doi: 10.1136/jmedgenet-2011-100409. Epub 2011 Dec 6.

PMID:
22147889
36.

PAX6 3' deletion in a family with aniridia.

Wawrocka A, Budny B, Debicki S, Jamsheer A, Sowinska A, Krawczynski MR.

Ophthalmic Genet. 2012 Mar;33(1):44-8. doi: 10.3109/13816810.2011.615076. Epub 2011 Oct 10.

PMID:
21985185
37.

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.

38.

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.

39.

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. eCollection 2011.

40.

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.

41.

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.

Clin Genet. 2010 Jul;78(1):94-7. doi: 10.1111/j.1399-0004.2010.01412.x. No abstract available.

PMID:
20597923
42.

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.

43.

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.

Clin Genet. 2010 Feb;77(2):141-4. doi: 10.1111/j.1399-0004.2009.01331.x. Epub 2009 Dec 10.

PMID:
20002452
44.

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.

J Appl Genet. 2009;50(4):405-10. Review.

PMID:
19875893
45.

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.

J Appl Genet. 2009;50(3):297-9. doi: 10.1007/BF03195687.

PMID:
19638688
46.

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.

Birth Defects Res A Clin Mol Teratol. 2009 Mar;85(3):211-5. doi: 10.1002/bdra.20555.

PMID:
19180633
47.

Prevalence of extended-spectrum beta-lactamase-producing Enterobacteriaceae in Bahrain.

Bindayna KM, Senok AC, Jamsheer AE.

J Infect Public Health. 2009;2(3):129-35. doi: 10.1016/j.jiph.2009.04.005. Epub 2009 Sep 18.

48.

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.

J Appl Genet. 2008;49(4):397-405. doi: 10.1007/BF03195639.

PMID:
19029687
49.

Molecular typing of methicillin-resistant Staphylococcus aureus isolated in a Bahrain hospital.

Udo EE, Panigrahi D, Jamsheer AE.

Med Princ Pract. 2008;17(4):308-14. doi: 10.1159/000129611. Epub 2008 Jun 3.

50.

[Genetic background of isolated forms of congenital malformations of the hand].

Jamsheer A.

Med Wieku Rozwoj. 2008 Jul-Sep;12(3):729-37. Review. Polish.

PMID:
19305023

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