Jezela-Stanek A - Search Results

1

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. Jurkiewicz D, et al. Eur J Med Genet. 2010 Sep-Oct;53(5):268-73. doi: 10.1016/j.ejmg.2010.07.006. Epub 2010 Jul 15. Eur J Med Genet. 2010. PMID: 20637903

2

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. Ciara E, et al. Clin Genet. 2004 Dec;66(6):517-24. doi: 10.1111/j.1399-0004.2004.00350.x. Clin Genet. 2004. PMID: 15521979

3

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. Jezela-Stanek A, et al. Clin Genet. 2006 Jan;69(1):77-85. doi: 10.1111/j.1399-0004.2006.00551.x. Clin Genet. 2006. PMID: 16451140

4

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. Jezela-Stanek A, et al. Eur J Med Genet. 2008 Mar-Apr;51(2):124-40. doi: 10.1016/j.ejmg.2007.11.004. Epub 2007 Dec 8. Eur J Med Genet. 2008. PMID: 18249054

5

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

Jezela-Stanek A, Dobrzańska A, Maksym-Gąsiorek D, Trzeciakowski W, Gutkowska A, Olczak-Kowalczyk D, Gajdulewicz M, Spodar K, Czech-Kowalska J, Krajewska-Walasek M. Jezela-Stanek A, et al. Clin Dysmorphol. 2009 Jan;18(1):13-17. doi: 10.1097/MCD.0b013e328317c884. Clin Dysmorphol. 2009. PMID: 18955897

6

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. Jezela-Stanek A, et al. Clin Dysmorphol. 2009 Jul;18(3):168-171. doi: 10.1097/MCD.0b013e32832a9ea5. Clin Dysmorphol. 2009. PMID: 19444090 No abstract available.

7

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. Jezela-Stanek A, et al. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S241-8. doi: 10.1007/s10545-010-9132-4. Epub 2010 Jun 16. J Inherit Metab Dis. 2010. PMID: 20556518

8

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. Jezela-Stanek A, et al. Pediatr Neurol. 2011 Mar;44(3):221-4. doi: 10.1016/j.pediatrneurol.2010.10.007. Pediatr Neurol. 2011. PMID: 21310340

9

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. Jezela-Stanek A, et al. Am J Med Genet A. 2012 Apr;158A(4):922-6. doi: 10.1002/ajmg.a.34440. Epub 2012 Feb 17. Am J Med Genet A. 2012. PMID: 22344789 No abstract available.

10

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. Jezela-Stanek A, et al. Clin Dysmorphol. 2012 Apr;21(2):97-100. doi: 10.1097/MCD.0b013e32834e92b8. Clin Dysmorphol. 2012. PMID: 22391620 No abstract available.

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