Latos-Bieleńska A - Search Results

1

Aggressive fibromatosis (desmoid tumors): definition, occurrence, pathology, diagnostic problems, clinical behavior, genetic background.

Ferenc T, Sygut J, Kopczyński J, Mayer M, Latos-Bieleńska A, Dziki A, Kulig A. Ferenc T, et al. Pol J Pathol. 2006;57(1):5-15. Pol J Pathol. 2006. PMID: 16739877 Review.

2

Molecular cytogenetic analysis of chromosome aberrations in desmoid tumors.

Mayer M, Kulig A, Sygut J, Dziki A, Simon D, Latos-Bieleńska A, Ferenc T. Mayer M, et al. Pol J Pathol. 2007;58(3):167-71. Pol J Pathol. 2007. PMID: 18074861

3

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. BMC Med Genet. 2010 Jul 9;11:110. doi: 10.1186/1471-2350-11-110. BMC Med Genet. 2010. PMID: 20618940 Free PMC article.

4

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. Maas SM, et al. Eur J Med Genet. 2015 May;58(5):279-92. doi: 10.1016/j.ejmg.2015.03.002. Epub 2015 Mar 16. Eur J Med Genet. 2015. PMID: 25792522

5

A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome.

Budny B, Chen W, Omran H, Fliegauf M, Tzschach A, Wisniewska M, Jensen LR, Raynaud M, Shoichet SA, Badura M, Lenzner S, Latos-Bielenska A, Ropers HH. Budny B, et al. Hum Genet. 2006 Sep;120(2):171-8. doi: 10.1007/s00439-006-0210-5. Epub 2006 Jun 17. Hum Genet. 2006. PMID: 16783569

6

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.

Walczak-Sztulpa J, Eggenschwiler J, Osborn D, Brown DA, Emma F, Klingenberg C, Hennekam RC, Torre G, Garshasbi M, Tzschach A, Szczepanska M, Krawczynski M, Zachwieja J, Zwolinska D, Beales PL, Ropers HH, Latos-Bielenska A, Kuss AW. Walczak-Sztulpa J, et al. Am J Hum Genet. 2010 Jun 11;86(6):949-56. doi: 10.1016/j.ajhg.2010.04.012. Epub 2010 May 20. Am J Hum Genet. 2010. PMID: 20493458 Free PMC article.

7

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

8

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.

9

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. Walczak-Sztulpa J, et al. Birth Defects Res. 2018 Mar 1;110(4):376-381. doi: 10.1002/bdr2.1151. Epub 2017 Nov 14. Birth Defects Res. 2018. PMID: 29134781

10

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. Materna-Kiryluk A, et al. BMC Pediatr. 2013 Feb 19;13:26. doi: 10.1186/1471-2431-13-26. BMC Pediatr. 2013. PMID: 23421878 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

160 results

Search Page