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Items: 1 to 20 of 105

1.

Electroclinical features of epilepsy monosomy 1p36 syndrome and their implications.

Verrotti A, Greco M, Varriale G, Tamborino A, Savasta S, Carotenuto M, Elia M, Operto F, Margari L, Belcastro V, Selicorni A, Freri E, Matricardi S, Granata T, Ragona F, Capovilla G, Spalice A, Coppola G, Striano P.

Acta Neurol Scand. 2018 Dec;138(6):523-530. doi: 10.1111/ane.13006. Epub 2018 Aug 14.

PMID:
30109707
2.

Electroclinical features of epilepsy associated with 1p36 deletion syndrome: A review.

Greco M, Ferrara P, Farello G, Striano P, Verrotti A.

Epilepsy Res. 2018 Jan;139:92-101. doi: 10.1016/j.eplepsyres.2017.11.016. Epub 2017 Dec 2. Review.

PMID:
29212048
3.

Spectrum of epilepsy in terminal 1p36 deletion syndrome.

Bahi-Buisson N, Guttierrez-Delicado E, Soufflet C, Rio M, Daire VC, Lacombe D, Héron D, Verloes A, Zuberi S, Burglen L, Afenjar A, Moutard ML, Edery P, Novelli A, Bernardini L, Dulac O, Nabbout R, Plouin P, Battaglia A.

Epilepsia. 2008 Mar;49(3):509-15. Epub 2007 Nov 21.

4.

[Epilepsy in chromosome aberrations].

Bahi-Buisson N, Ville D, Eisermann M, Plouin P, Kaminska A, Chiron C.

Arch Pediatr. 2005 Apr;12(4):449-58. Review. French.

PMID:
15808438
5.

Loss of the potassium channel beta-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome.

Heilstedt HA, Burgess DL, Anderson AE, Chedrawi A, Tharp B, Lee O, Kashork CD, Starkey DE, Wu YQ, Noebels JL, Shaffer LG, Shapira SK.

Epilepsia. 2001 Sep;42(9):1103-11.

6.

Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome.

Kurosawa K, Kawame H, Okamoto N, Ochiai Y, Akatsuka A, Kobayashi M, Shimohira M, Mizuno S, Wada K, Fukushima Y, Kawawaki H, Yamamoto T, Masuno M, Imaizumi K, Kuroki Y.

Brain Dev. 2005 Aug;27(5):378-82. Epub 2005 Apr 13.

PMID:
16023556
7.

Electroclinical features of epilepsy in patients with InvDup(15).

Verrotti A, Sertorio F, Matricardi S, Ferrara P, Striano P.

Seizure. 2017 Apr;47:87-91. doi: 10.1016/j.seizure.2017.03.006. Epub 2017 Mar 9. Review.

8.

Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopy.

Bursztejn AC, Bronner M, Peudenier S, Grégoire MJ, Jonveaux P, Nemos C.

Am J Med Genet A. 2009 Nov;149A(11):2493-500. doi: 10.1002/ajmg.a.33051.

PMID:
19842196
9.

Epileptic spasms and early-onset photosensitive epilepsy in Patau syndrome: An EEG study.

Spagnoli C, Kugathasan U, Brittain H, Boyd SG.

Brain Dev. 2015 Aug;37(7):704-13. doi: 10.1016/j.braindev.2014.10.007. Epub 2014 Oct 28.

PMID:
25459971
10.

Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome.

Shapira SK, McCaskill C, Northrup H, Spikes AS, Elder FF, Sutton VR, Korenberg JR, Greenberg F, Shaffer LG.

Am J Hum Genet. 1997 Sep;61(3):642-50.

11.

Electroclinical findings and long-term outcomes in epileptic patients with inv dup (15).

Matricardi S, Darra F, Spalice A, Basti C, Fontana E, Dalla Bernardina B, Elia M, Giordano L, Accorsi P, Cusmai R, De Liso P, Romeo A, Ragona F, Granata T, Concolino D, Carotenuto M, Pavone P, Pruna D, Striano P, Savasta S, Verrotti A.

Acta Neurol Scand. 2018 Jun;137(6):575-581. doi: 10.1111/ane.12902. Epub 2018 Jan 23.

PMID:
29363096
12.

Mini-Review: Monosomy 1p36 syndrome: reviewing the correlation between deletion sizes and phenotypes.

Rocha CF, Vasques RB, Santos SR, Paiva CL.

Genet Mol Res. 2016 Feb 22;15(1). doi: 10.4238/gmr.15017942. Review.

13.

Delineating the phenotype of 1p36 deletion in adolescents and adults.

Brazil A, Stanford K, Smolarek T, Hopkin R.

Am J Med Genet A. 2014 Oct;164A(10):2496-503. doi: 10.1002/ajmg.a.36657. Epub 2014 Jul 8.

PMID:
25044719
14.

Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions.

Rosenfeld JA, Crolla JA, Tomkins S, Bader P, Morrow B, Gorski J, Troxell R, Forster-Gibson C, Cilliers D, Hislop RG, Lamb A, Torchia B, Ballif BC, Shaffer LG.

Am J Med Genet A. 2010 Aug;152A(8):1951-9. doi: 10.1002/ajmg.a.33516.

PMID:
20635359
15.

Electroclinical features and long-term outcome of cryptogenic epilepsy in children with Down syndrome.

Verrotti A, Cusmai R, Nicita F, Pizzolorusso A, Elia M, Zamponi N, Cesaroni E, Granata T, De Giorgi I, Giordano L, Grosso S, Pavone P, Franzoni E, Coppola G, Cerminara C, Curatolo P, Savasta S, Striano P, Parisi P, Romeo A, Spalice A.

J Pediatr. 2013 Dec;163(6):1754-8. doi: 10.1016/j.jpeds.2013.07.022. Epub 2013 Aug 27.

PMID:
23992680
16.

Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome.

Saito Y, Kubota M, Kurosawa K, Ichihashi I, Kaneko Y, Hattori A, Komaki H, Nakagawa E, Sugai K, Sasaki M.

Brain Dev. 2011 May;33(5):437-41. doi: 10.1016/j.braindev.2010.07.004. Epub 2010 Aug 13.

PMID:
20708863
17.

Spectrum of epilepsy and electroencephalogram patterns in idic (15) syndrome.

Battaglia A, Bernardini L, Torrente I, Novelli A, Scarselli G.

Am J Med Genet A. 2016 Oct;170(10):2531-9. doi: 10.1002/ajmg.a.37844. Epub 2016 Aug 11.

PMID:
27513709
18.

Monosomy 1p36 deletion syndrome.

Gajecka M, Mackay KL, Shaffer LG.

Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):346-56. Review.

PMID:
17918734
19.

Monosomy 1p36 - a multifaceted and still enigmatic syndrome: four clinically diverse cases with shared white matter abnormalities.

Õiglane-Shlik E, Puusepp S, Talvik I, Vaher U, Rein R, Tammur P, Reimand T, Teek R, Žilina O, Tomberg T, Õunap K.

Eur J Paediatr Neurol. 2014 May;18(3):338-46. doi: 10.1016/j.ejpn.2014.01.008. Epub 2014 Jan 25.

PMID:
24529875
20.

Cutis laxa in a patient with 1p36 deletion syndrome.

Zhang Z, Wang J, Li N, Yao R, Chen J.

J Dermatol. 2018 Jul;45(7):871-873. doi: 10.1111/1346-8138.14311. Epub 2018 Apr 3.

PMID:
29611295

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