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Items: 1 to 20 of 103

1.

Supernumerary tricentric derivative chromosome 15 in two boys with intractable epilepsy: another mechanism for partial hexasomy.

Mann SM, Wang NJ, Liu DH, Wang L, Schultz RA, Dorrani N, Sigman M, Schanen NC.

Hum Genet. 2004 Jul;115(2):104-11. Epub 2004 May 13.

PMID:
15141347
2.

The inv dup (15) or idic (15) syndrome (Tetrasomy 15q).

Battaglia A.

Orphanet J Rare Dis. 2008 Nov 19;3:30. doi: 10.1186/1750-1172-3-30. Review.

3.

Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.

Depienne C, Moreno-De-Luca D, Heron D, Bouteiller D, Gennetier A, Delorme R, Chaste P, Siffroi JP, Chantot-Bastaraud S, Benyahia B, Trouillard O, Nygren G, Kopp S, Johansson M, Rastam M, Burglen L, Leguern E, Verloes A, Leboyer M, Brice A, Gillberg C, Betancur C.

Biol Psychiatry. 2009 Aug 15;66(4):349-59. doi: 10.1016/j.biopsych.2009.01.025. Epub 2009 Mar 17.

4.

Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.

Ungaro P, Christian SL, Fantes JA, Mutirangura A, Black S, Reynolds J, Malcolm S, Dobyns WB, Ledbetter DH.

J Med Genet. 2001 Jan;38(1):26-34.

5.

15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.

Vanlerberghe C, Petit F, Malan V, Vincent-Delorme C, Bouquillon S, Boute O, Holder-Espinasse M, Delobel B, Duban B, Vallee L, Cuisset JM, Lemaitre MP, Vantyghem MC, Pigeyre M, Lanco-Dosen S, Plessis G, Gerard M, Decamp M, Mathieu M, Morin G, Jedraszak G, Bilan F, Gilbert-Dussardier B, Fauvert D, Roume J, Cormier-Daire V, Caumes R, Puechberty J, Genevieve D, Sarda P, Pinson L, Blanchet P, Lemeur N, Sheth F, Manouvrier-Hanu S, Andrieux J.

Eur J Med Genet. 2015 Mar;58(3):140-7. doi: 10.1016/j.ejmg.2015.01.002. Epub 2015 Jan 14.

PMID:
25596525
6.

15q Duplication Syndrome and Related Disorders.

Finucane BM, Lusk L, Arkilo D, Chamberlain S, Devinsky O, Dindot S, Jeste SS, LaSalle JM, Reiter LT, Schanen NC, Spence SJ, Thibert RL, Calvert G, Luchsinger K, Cook EH.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2016 Jun 16.

7.
8.

Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15.

Wang NJ, Parokonny AS, Thatcher KN, Driscoll J, Malone BM, Dorrani N, Sigman M, LaSalle JM, Schanen NC.

BMC Genet. 2008 Jan 4;9:2. doi: 10.1186/1471-2156-9-2.

9.

Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13.

Gurrieri F, Battaglia A, Torrisi L, Tancredi R, Cavallaro C, Sangiorgi E, Neri G.

Neurology. 1999 May 12;52(8):1694-7.

PMID:
10331703
10.

A study of two Chinese patients with tetrasomy and pentasomy 15q11q13 including Prader-Willi/Angelman syndrome critical region present with developmental delays and mental impairment.

Yang J, Yang Y, Huang Y, Hu Y, Chen X, Sun H, Lv Z, Cheng Q, Bao L.

BMC Med Genet. 2013 Jan 15;14:9. doi: 10.1186/1471-2350-14-9.

11.

Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature.

Li H, Du J, Li W, Cheng D, He W, Yi D, Xiong B, Yuan S, Tu C, Meng L, Luo A, Lin G, Lu G, Tan YQ.

Mol Cytogenet. 2018 Feb 5;11:15. doi: 10.1186/s13039-018-0365-5. eCollection 2018.

12.

Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13.

Dennis NR, Veltman MW, Thompson R, Craig E, Bolton PF, Thomas NS.

Am J Med Genet A. 2006 Mar 1;140(5):434-41.

PMID:
16470730
13.

De novo interstitial duplication of the 15q11.2-q14 PWS/AS region of maternal origin: Clinical description, array CGH analysis, and review of the literature.

Kitsiou-Tzeli S, Tzetis M, Sofocleous C, Vrettou C, Xaidara A, Giannikou K, Pampanos A, Mavrou A, Kanavakis E.

Am J Med Genet A. 2010 Aug;152A(8):1925-32. doi: 10.1002/ajmg.a.33447.

PMID:
20575009
14.

Double supernumerary isodicentric chromosomes derived from 15 resulting in partial hexasomy.

Qumsiyeh MB, Rafi SK, Sarri C, Grigoriadou M, Gyftodimou J, Pandelia E, Laskari H, Petersen MB.

Am J Med Genet A. 2003 Feb 1;116A(4):356-9.

PMID:
12522791
15.

Duplication of the 15q11-q13 region: clinical and genetic study of 30 new cases.

Al Ageeli E, Drunat S, Delanoë C, Perrin L, Baumann C, Capri Y, Fabre-Teste J, Aboura A, Dupont C, Auvin S, El Khattabi L, Chantereau D, Moncla A, Tabet AC, Verloes A.

Eur J Med Genet. 2014 Jan;57(1):5-14. doi: 10.1016/j.ejmg.2013.10.008. Epub 2013 Nov 12.

PMID:
24239951
17.

Partial hexasomy for the Prader-Willi-Angelman syndrome critical region due to a maternally inherited large supernumerary marker chromosome.

Hoppman-Chaney NL, Dawson DB, Nguyen L, Sengupta S, Reynolds K, McPherson E, Velagaleti G.

Am J Med Genet A. 2010 Aug;152A(8):2034-8. doi: 10.1002/ajmg.a.33483.

PMID:
20602489
18.

Familial partial trisomy 15q11-13 presenting as intractable epilepsy in the child and schizophrenia in the mother.

Michelson M, Eden A, Vinkler C, Leshinsky-Silver E, Kremer U, Lerman-Sagie T, Lev D.

Eur J Paediatr Neurol. 2011 May;15(3):230-3. doi: 10.1016/j.ejpn.2010.11.001. Epub 2010 Dec 8.

PMID:
21145272
19.

Neurological features and long-term follow-up in 15q11.2-13.1 duplication.

Coppola A, Ruosi P, Santulli L, Striano S, Zara F, Striano P, Sisodiya SM.

Eur J Med Genet. 2013 Nov;56(11):614-8. doi: 10.1016/j.ejmg.2013.08.008. Epub 2013 Sep 25.

PMID:
24075935
20.

Clinical and molecular analysis of five inv dup(15) patients.

Robinson WP, Binkert F, Giné R, Vazquez C, Müller W, Rosenkranz W, Schinzel A.

Eur J Hum Genet. 1993;1(1):37-50.

PMID:
8069650

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