Latos-Bieleńska A - Search Results

1

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.

Kumar R, Corbett MA, Van Bon BW, Gardner A, Woenig JA, Jolly LA, Douglas E, Friend K, Tan C, Van Esch H, Holvoet M, Raynaud M, Field M, Leffler M, Budny B, Wisniewska M, Badura-Stronka M, Latos-Bieleńska A, Batanian J, Rosenfeld JA, Basel-Vanagaite L, Jensen C, Bienek M, Froyen G, Ullmann R, Hu H, Love MI, Haas SA, Stankiewicz P, Cheung SW, Baxendale A, Nicholl J, Thompson EM, Haan E, Kalscheuer VM, Gecz J. Kumar R, et al. Hum Mol Genet. 2015 Dec 20;24(25):7171-81. doi: 10.1093/hmg/ddv414. Epub 2015 Oct 6. Hum Mol Genet. 2015. PMID: 26443594

2

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

3

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

Hu H, Haas SA, Chelly J, Van Esch H, Raynaud M, de Brouwer AP, Weinert S, Froyen G, Frints SG, Laumonnier F, Zemojtel T, Love MI, Richard H, Emde AK, Bienek M, Jensen C, Hambrock M, Fischer U, Langnick C, Feldkamp M, Wissink-Lindhout W, Lebrun N, Castelnau L, Rucci J, Montjean R, Dorseuil O, Billuart P, Stuhlmann T, Shaw M, Corbett MA, Gardner A, Willis-Owen S, Tan C, Friend KL, Belet S, van Roozendaal KE, Jimenez-Pocquet M, Moizard MP, Ronce N, Sun R, O'Keeffe S, Chenna R, van Bömmel A, Göke J, Hackett A, Field M, Christie L, Boyle J, Haan E, Nelson J, Turner G, Baynam G, Gillessen-Kaesbach G, Müller U, Steinberger D, Budny B, Badura-Stronka M, Latos-Bieleńska A, Ousager LB, Wieacker P, Rodríguez Criado G, Bondeson ML, Annerén G, Dufke A, Cohen M, Van Maldergem L, Vincent-Delorme C, Echenne B, Simon-Bouy B, Kleefstra T, Willemsen M, Fryns JP, Devriendt K, Ullmann R, Vingron M, Wrogemann K, Wienker TF, Tzschach A, van Bokhoven H, Gecz J, Jentsch TJ, Chen W, Ropers HH, Kalscheuer VM. Hu H, et al. Mol Psychiatry. 2016 Jan;21(1):133-48. doi: 10.1038/mp.2014.193. Epub 2015 Feb 3. Mol Psychiatry. 2016. PMID: 25644381 Free PMC article.

4

Chromosome deletions in 13q33-34: report of four patients and review of the literature.

Walczak-Sztulpa J, Wisniewska M, Latos-Bielenska A, Linné M, Kelbova C, Belitz B, Pfeiffer L, Kalscheuer V, Erdogan F, Kuss AW, Ropers HH, Ullmann R, Tzschach A. Walczak-Sztulpa J, et al. Am J Med Genet A. 2008 Feb 1;146A(3):337-42. doi: 10.1002/ajmg.a.32127. Am J Med Genet A. 2008. PMID: 18203171 Review.

5

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. Sowińska-Seidler A, et al. Birth Defects Res A Clin Mol Teratol. 2014 Oct;100(10):764-71. doi: 10.1002/bdra.23298. Epub 2014 Sep 5. Birth Defects Res A Clin Mol Teratol. 2014. PMID: 25196357

6

Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.

Budny B, Badura-Stronka M, Materna-Kiryluk A, Tzschach A, Raynaud M, Latos-Bielenska A, Ropers HH. Budny B, et al. Clin Genet. 2010 Jun;77(6):541-51. doi: 10.1111/j.1399-0004.2010.01429.x. Epub 2010 Apr 19. Clin Genet. 2010. PMID: 20412111

7

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. Badura-Stronka M, et al. Clin Genet. 2010 Feb;77(2):141-4. doi: 10.1111/j.1399-0004.2009.01331.x. Epub 2009 Dec 10. Clin Genet. 2010. PMID: 20002452

8

A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report.

Winczewska-Wiktor A, Badura-Stronka M, Monies-Nowicka A, Nowicki MM, Steinborn B, Latos-Bieleńska A, Monies D. Winczewska-Wiktor A, et al. BMC Neurol. 2016 Mar 12;16:35. doi: 10.1186/s12883-016-0554-y. BMC Neurol. 2016. PMID: 26968164 Free PMC article.

9

A new case of DOOR syndrome.

Wiśniewska M, Siwińska Z, Felczak M, Wielkoszyński T, Krawczyński M, Latos-Bieleńska A. Wiśniewska M, et al. J Appl Genet. 2008;49(1):101-3. doi: 10.1007/BF03195254. J Appl Genet. 2008. PMID: 18263975

10

Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome.

Jakubiak A, Szczałuba K, Badura-Stronka M, Kutkowska-Kaźmierczak A, Jakubiuk-Tomaszuk A, Chilarska T, Pilch J, Braun-Walicka N, Castaneda J, Wołyńska K, Wiśniewska M, Kugaudo M, Bielecka M, Pesz K, Wierzba J, Latos-Bieleńska A, Obersztyn E, Krajewska-Walasek M, Śmigiel R. Jakubiak A, et al. J Appl Genet. 2021 Sep;62(3):477-485. doi: 10.1007/s13353-021-00636-1. Epub 2021 May 12. J Appl Genet. 2021. PMID: 33982229 Free PMC article.

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