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Items: 40

1.

Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants.

Nicita F, Stregapede F, Tessa A, Bassi MT, Jezela-Stanek A, Primiano G, Pizzuti A, Barghigiani M, Nardella M, Zanni G, Servidei S, Astrea G, Panzeri E, Maghini C, Losito L, Ploski R, Gasperowicz P, Santorelli FM, Bertini E, Travaglini L.

J Neurol. 2019 Jul 13. doi: 10.1007/s00415-019-09466-y. [Epub ahead of print]

PMID:
31302745
2.

FGF12p.Gly112Ser variant as a cause of phenytoin/phenobarbital responsive epilepsy.

Paprocka J, Jezela-Stanek A, Koppolu A, Rydzanicz M, Kosińska J, Stawiński P, Płoski R.

Clin Genet. 2019 Sep;96(3):274-275. doi: 10.1111/cge.13592. Epub 2019 Jul 10.

PMID:
31292943
3.

Beyond the lungs: Alpha-1 antitrypsin's potential role in human gestation.

Jezela-Stanek A, Chorostowska-Wynimko J.

Adv Clin Exp Med. 2019 Mar 27. doi: 10.17219/acem/103668. [Epub ahead of print] Review.

PMID:
30929319
4.

Novel data on growth phenotype and causative genotypes in 29 patients with Morquio (Morquio-Brailsford) syndrome from Central-Eastern Europe.

Jezela-Stanek A, Różdżyńska-Świątkowska A, Kulpanovich A, Ciara E, Marucha J, Tylki-Szymańska A.

J Appl Genet. 2019 May;60(2):163-174. doi: 10.1007/s13353-019-00491-1. Epub 2019 Mar 30.

5.

Novel variant in HDAC8 gene resulting in the severe Cornelia de Lange phenotype.

Jezela-Stanek A, Murcia PV, Jurkiewicz D, Iwanicka-Pronicka K, Jędrzejowska M, Krajewska-Walasek M, Płoski R.

Clin Dysmorphol. 2019 Jul;28(3):126-130. doi: 10.1097/MCD.0000000000000277.

PMID:
30921088
6.

Novel COL12A1 variant as a cause of mild familial extracellular matrix-related myopathy.

Jezela-Stanek A, Walczak A, Łaźniewski M, Kosińska J, Stawiński P, Murcia Pienkowski V, Biernacka A, Rydzanicz M, Kostrzewa G, Krajewski P, Plewczyński D, Płoski R.

Clin Genet. 2019 Jun;95(6):736-738. doi: 10.1111/cge.13534. Epub 2019 Mar 28. No abstract available.

PMID:
30920656
7.

Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases.

Pokora P, Jezela-Stanek A, Różdżyńska-Świątkowska A, Jurkiewicz E, Bogdańska A, Szymańska E, Rokicki D, Ciara E, Rydzanicz M, Stawiński P, Płoski R, Tylki-Szymańska A.

Metab Brain Dis. 2019 Apr;34(2):641-649. doi: 10.1007/s11011-018-0357-5. Epub 2018 Dec 20.

8.

The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene.

Jędrzejowska M, Dębek E, Kowalczyk B, Halat P, Kostera-Pruszczyk A, Ciara E, Jezela-Stanek A, Rydzanicz M, Gasperowicz P, Gos M.

Muscle Nerve. 2019 Jan;59(1):129-133. doi: 10.1002/mus.26346. Epub 2018 Oct 26.

PMID:
30230566
9.

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.

Acuna-Hidalgo R, Deriziotis P, Steehouwer M, Gilissen C, Graham SA, van Dam S, Hoover-Fong J, Telegrafi AB, Destree A, Smigiel R, Lambie LA, Kayserili H, Altunoglu U, Lapi E, Uzielli ML, Aracena M, Nur BG, Mihci E, Moreira LM, Borges Ferreira V, Horovitz DD, da Rocha KM, Jezela-Stanek A, Brooks AS, Reutter H, Cohen JS, Fatemi A, Smitka M, Grebe TA, Di Donato N, Deshpande C, Vandersteen A, Marques Lourenço C, Dufke A, Rossier E, Andre G, Baumer A, Spencer C, McGaughran J, Franke L, Veltman JA, De Vries BB, Schinzel A, Fisher SE, Hoischen A, van Bon BW.

PLoS Genet. 2017 Mar 27;13(3):e1006683. doi: 10.1371/journal.pgen.1006683. eCollection 2017 Mar.

10.

Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome.

Pelc M, Ciara E, Jezela-Stanek A, Kugaudo M, Cieślikowska A, Jurkiewicz D, Janeczko M, Chrzanowska K, Krajewska-Walasek M, Skórka A.

Clin Dysmorphol. 2017 Apr;26(2):83-90. doi: 10.1097/MCD.0000000000000165.

PMID:
28027064
11.

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.

12.

Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene.

Krajewska-Walasek M, Jurkiewicz D, Piekutowska-Abramczuk D, Kucharczyk M, Chrzanowska KH, Jezela-Stanek A, Ciara E.

Am J Med Genet A. 2016 Jun;170(6):1647-50. doi: 10.1002/ajmg.a.37641. Epub 2016 Mar 31. No abstract available.

PMID:
27031564
13.

Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant.

Jezela-Stanek A, Kucharczyk M, Falana K, Jurkiewicz D, Mlynek M, Wicher D, Rydzanicz M, Kugaudo M, Cieslikowska A, Ciara E, Ploski R, Krajewska-Walasek M.

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2016 Mar;160(1):161-7. doi: 10.5507/bp.2016.006. Epub 2016 Feb 29. Review.

14.

Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.

Jezela-Stanek A, Ciara E, Piekutowska-Abramczuk D, Trubicka J, Jurkiewicz E, Rokicki D, Mierzewska H, Spychalska J, Uhrynowska M, Szwarc-Bronikowska M, Buda P, Said AR, Jamroz E, Rydzanicz M, Płoski R, Krajewska-Walasek M, Pronicka E.

Eur J Paediatr Neurol. 2016 May;20(3):462-73. doi: 10.1016/j.ejpn.2016.01.007. Epub 2016 Feb 4.

PMID:
26879448
15.

PHENOTYPIC CONSEQUENCES AND THE MALIGNANCY RISK IN FAMILIAL NOONAN SYNDROME DUE TO A RARE P.S427G RAF1 MUTATION.

Pelc M, Ciara E, Jezela-Stanek A, Krajewska-Walasek M.

Genet Couns. 2016;27(3):325-333.

PMID:
30204961
16.

Trends in prenatal diagnosis of non-specific multiple malformations disorders with reference to the own experience and research study on Smith-Lemli-Opitz syndrome.

Jezela-Stanek A, Małunowicz E, Anna S, Kucharczyk M, Goryluk-Kozakiewicz B, Sodowska H, Krajewska-Walasek M.

Ginekol Pol. 2015 Aug;86(8):598-602.

PMID:
26492708
17.

MOLAR TOOTH SIGN AND ACROCALLOSAL SYNDROME--A REPORT ON A POLISH FAMILY AND REVIEW OF KIF7 SYNDROMOLOGY.

Krajewska-Walasek M, Kugaudo M, Jędrzejowska M, Cieślikowska A, Ichkou A, Attié-Bitach T, Jezela-Stanek A.

Genet Couns. 2015;26(2):171-9. Review.

PMID:
26349186
18.

Infectious and immunologic phenotype of MECP2 duplication syndrome.

Bauer M, Kölsch U, Krüger R, Unterwalder N, Hameister K, Kaiser FM, Vignoli A, Rossi R, Botella MP, Budisteanu M, Rosello M, Orellana C, Tejada MI, Papuc SM, Patat O, Julia S, Touraine R, Gomes T, Wenner K, Xu X, Afenjar A, Toutain A, Philip N, Jezela-Stanek A, Gortner L, Martinez F, Echenne B, Wahn V, Meisel C, Wieczorek D, El-Chehadeh S, Van Esch H, von Bernuth H.

J Clin Immunol. 2015 Feb;35(2):168-81. doi: 10.1007/s10875-015-0129-5. Epub 2015 Feb 27.

PMID:
25721700
19.

Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication.

Kucharczyk M, Jezela-Stanek A, Gieruszczak-Bialek D, Kugaudo M, Cieslikowska A, Pelc M, Krajewska-Walasek M.

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2015 Jun;159(2):333-7. doi: 10.5507/bp.2015.003. Epub 2015 Feb 10.

20.

Polish activity within Orphanet Europe--state of art of database and services.

Jezela-Stanek A, Karczmarewicz D, Chrzanowska KH, Krajewska-Walasek M.

Dev Period Med. 2015 Oct-Dec;19(4):536-41.

21.

Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene.

Ciara E, Pelc M, Jurkiewicz D, Kugaudo M, Gieruszczak-Białek D, Skórka A, Posmyk R, Jakubiuk-Tomaszuk A, Cieślikowska A, Chrzanowska KH, Jezela-Stanek A, Krajewska-Walasek M.

Eur J Med Genet. 2015 Jan;58(1):14-20. doi: 10.1016/j.ejmg.2014.11.002. Epub 2014 Nov 11.

PMID:
25463315
22.

Noninvasive prenatal testing of aneuploidies: where are we now?

Jezela-Stanek A, Krajewska-Walasek M.

Rev Bras Ginecol Obstet. 2014 Sep;36(9):383-6. No abstract available.

PMID:
25272358
23.

The first case of a patient with de novo partial distal 16q tetrasomy and a data's review.

Kucharczyk M, Kochański A, Jezela-Stanek A, Kugaudo M, Sielska-Rotblum D, Gutkowska A, Krajewska-Walasek M.

Am J Med Genet A. 2014 Oct;164A(10):2541-50. doi: 10.1002/ajmg.a.36686. Epub 2014 Aug 8.

PMID:
25111638
24.

1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay-additional case and data's review.

Jezela-Stanek A, Kucharczyk M, Pelc M, Gutkowska A, Krajewska-Walasek M.

Am J Med Genet A. 2013 Jan;161A(1):172-8. doi: 10.1002/ajmg.a.35654. Epub 2012 Nov 19. Review.

PMID:
23165892
25.

Genetic causes of syndromic craniosynostoses.

Jezela-Stanek A, Krajewska-Walasek M.

Eur J Paediatr Neurol. 2013 May;17(3):221-4. doi: 10.1016/j.ejpn.2012.09.009. Epub 2012 Oct 11. Review.

PMID:
23062756
26.

History and molecular characteristics of a patient with terminal deletion of 14q. Is this another syndrome with a striking phenotype?

Jezela-Stanek A, Kucharczyk M, Gutkowska A, Pelc M, Ciara E, Chrzanowska KH, Krajewska-Walasek M.

Clin Dysmorphol. 2012 Apr;21(2):97-100. doi: 10.1097/MCD.0b013e32834e92b8. No abstract available.

PMID:
22391620
27.

Minimal clinical findings in a patient with 15qter microdeletion syndrome: delineation of the associated phenotype.

Jezela-Stanek A, Kucharczyk M, Pelc M, Chrzanowska KH, Krajewska-Walasek M.

Am J Med Genet A. 2012 Apr;158A(4):922-6. doi: 10.1002/ajmg.a.34440. Epub 2012 Feb 17. No abstract available.

PMID:
22344789
28.

Cryptic x; autosome translocation in a boy--delineation of the phenotype.

Jezela-Stanek A, Ciara E, Juszczak M, Pelc M, Materna-Kiryluk A, Krajewska-Walasek M.

Pediatr Neurol. 2011 Mar;44(3):221-4. doi: 10.1016/j.pediatrneurol.2010.10.007.

PMID:
21310340
29.

Four novel RSK2 mutations in females with Coffin-Lowry syndrome.

Jurkiewicz D, Jezela-Stanek A, Ciara E, Piekutowska-Abramczuk D, Kugaudo M, Gajdulewicz M, Chrzanowska K, Popowska E, Krajewska-Walasek M.

Eur J Med Genet. 2010 Sep-Oct;53(5):268-73. doi: 10.1016/j.ejmg.2010.07.006. Epub 2010 Jul 15.

PMID:
20637903
30.

Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?

Jezela-Stanek A, Ciara E, Małunowicz E, Chrzanowska K, Latos-Bieleńska A, Krajewska-Walasek M; Smith-Lemli-Opitz syndrome Collaborative Group.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S241-8. doi: 10.1007/s10545-010-9132-4. Epub 2010 Jun 16.

PMID:
20556518
31.

X-linked alpha thalassaemia/mental retardation syndrome: a case with gonadal dysgenesis, caused by a novel mutation in ATRX gene.

Jezela-Stanek A, Fisher C, Szarras-Czapnik M, Olczak-Kowalczyk D, Gibbons RJ, Słowikowska-Hilczer J, Krajewska-Walasek M.

Clin Dysmorphol. 2009 Jul;18(3):168-71. doi: 10.1097/MCD.0b013e32832a9ea5. No abstract available.

PMID:
19444090
32.

Trisomy 22pter-q12.3 presenting with hepatic dysfunction variability of cat-eye syndrome.

Jezela-Stanek A, Dobrzańska A, Maksym-Gasiorek D, Trzeciakowski W, Gutkowska A, Olczak-Kowalczyk D, Gajdulewicz M, Spodar K, Czech-Kowalska J, Krajewska-Walasek M.

Clin Dysmorphol. 2009 Jan;18(1):13-7. doi: 10.1097/MCD.0b013e328317c884.

PMID:
18955897
33.

Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature.

Jezela-Stanek A, Ciara E, Malunowicz EM, Korniszewski L, Piekutowska-Abramczuk D, Popowska E, Krajewska-Walasek M.

Eur J Med Genet. 2008 Mar-Apr;51(2):124-40. doi: 10.1016/j.ejmg.2007.11.004. Epub 2007 Dec 8.

PMID:
18249054
34.

A novel PANK2 gene mutation: clinical and molecular characteristics of patients short communication.

Kazek B, Jamroz E, Gencik M, Jezela Stanek A, Marszal E, Wojaczynska-Stanek K.

J Child Neurol. 2007 Nov;22(11):1256-9.

PMID:
18006953
35.

Angelman syndrome revisited.

Paprocka J, Jamroz E, Szwed-Białozyt B, Jezela-Stanek A, Kopyta I, Marszał E.

Neurologist. 2007 Sep;13(5):305-12.

PMID:
17848870
36.

[The Smith-Lemli-Opitz syndrome--case report, early diagnosis].

Walencka Z, Baumert M, Paprotny M, Jezela-Stanek A, Małunowicz EM, Sikora J.

Ginekol Pol. 2007 Mar;78(3):242-4. Polish.

PMID:
17650909
37.

CHILD syndrome: clinical picture and diagnostic procedures.

Kaminska-Winciorek G, Brzezinska-Wcisło L, Jezela-Stanek A, Krajewska-Walasek M, Cunningham D, Herman GE.

J Eur Acad Dermatol Venereol. 2007 May;21(5):715-6. No abstract available.

PMID:
17448011
38.

Hereditary neuropathy with liability to pressure palsy.

Paprocka J, Kajor M, Jamroz E, Jezela-Stanek A, Seeman P, Marszał E.

Folia Neuropathol. 2006;44(4):290-4.

39.

Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies.

Jezela-Stanek A, Małunowicz EM, Ciara E, Popowska E, Goryluk-Kozakiewicz B, Spodar K, Czerwiecka M, Jezuita J, Nowaczyk MJ, Krajewska-Walasek M.

Clin Genet. 2006 Jan;69(1):77-85.

PMID:
16451140
40.

DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.

Ciara E, Nowaczyk MJ, Witsch-Baumgartner M, Malunowicz E, Popowska E, Jezela-Stanek A, Piotrowicz M, Waye JS, Utermann G, Krajewska-Walasek M.

Clin Genet. 2004 Dec;66(6):517-24.

PMID:
15521979

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