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Items: 1 to 20 of 165

1.

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
2.

Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5-11.1 Mb terminal deletion of 1p36.

Saito S, Kawamura R, Kosho T, Shimizu T, Aoyama K, Koike K, Wada T, Matsumoto N, Kato M, Wakui K, Fukushima Y.

Am J Med Genet A. 2008 Nov 15;146A(22):2891-7. doi: 10.1002/ajmg.a.32556.

PMID:
18925681
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.

Deletion of 7q11.21-q11.23 and infantile spasms without deletion of MAGI2.

Röthlisberger B, Hoigné I, Huber AR, Brunschwiler W, Capone Mori A.

Am J Med Genet A. 2010 Feb;152A(2):434-7. doi: 10.1002/ajmg.a.33220.

PMID:
20101691
5.

Array-based comparative genomic hybridization facilitates identification of breakpoints of a novel der(1)t(1;18)(p36.3;q23)dn in a child presenting with mental retardation.

Lennon PA, Cooper ML, Curtis MA, Lim C, Ou Z, Patel A, Cheung SW, Bacino CA.

Am J Med Genet A. 2006 Jun 1;140(11):1156-63.

PMID:
16688748
6.

Clinical report: AN INTERSTITIAL deletion of 16p13.11 detected by array CGH in a patient with infantile spasms.

Balasubramanian M, Smith K, Mordekar SR, Parker MJ.

Eur J Med Genet. 2011 May-Jun;54(3):314-8. doi: 10.1016/j.ejmg.2011.01.008. Epub 2011 Feb 26.

PMID:
21315189
7.

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.

8.

Perisylvian polymicrogyria, infantile spasms and arthrogryposis: the severe end of the spectrum of congenital bilateral perisylvian polymicrogyria.

De Coene A, Van Coster R, Verhelst H.

Eur J Paediatr Neurol. 2010 May;14(3):270-3. doi: 10.1016/j.ejpn.2009.05.005. Epub 2009 Jun 25.

PMID:
19559633
9.

Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletion.

Gerkes EH, Hordijk R, Dijkhuizen T, Sival DA, Meiners LC, Sikkema-Raddatz B, van Ravenswaaij-Arts CM.

Eur J Med Genet. 2010 Sep-Oct;53(5):344-6. doi: 10.1016/j.ejmg.2010.05.003. Epub 2010 May 27.

PMID:
20553986
10.

Infantile spasms associated with 5q14.3 deletion.

Marashly A, Riel-Romero RM, Ursin S, Ghawi H.

J La State Med Soc. 2010 Jul-Aug;162(4):223-6.

PMID:
20882816
11.

Autosomal recessive polymicrogyria with infantile spasms and limb deformities.

Ciardo F, Zamponi N, Specchio N, Parmeggiani L, Guerrini R.

Neuropediatrics. 2001 Dec;32(6):325-9.

PMID:
11870589
12.

Mild craniosynostosis with 1p36.3 trisomy and 1p36.3 deletion syndrome caused by familial translocation t(Y;1).

Hiraki Y, Fujita H, Yamamori S, Ohashi H, Eguchi M, Harada N, Mizuguchi T, Matsumoto N.

Am J Med Genet A. 2006 Aug 15;140(16):1773-7.

PMID:
16835918
13.

Infantile spasms in a patient with williams syndrome and craniosynostosis.

Morimoto M, An B, Ogami A, Shin N, Sugino Y, Sawai Y, Usuku T, Tanaka M, Hirai K, Nishimura A, Hasegawa K, Sugimoto T.

Epilepsia. 2003 Nov;44(11):1459-62.

14.
15.

Focal polymicrogyria are associated with submicroscopic chromosomal rearrangements detected by CGH microarray analysis.

Quelin C, Saillour Y, Poirier K, Roubertie A, Boddaert N, Desguerre I, Letourneur F, Beldjord C, Chelly J, Bahi-Buisson N.

Eur J Med Genet. 2012 Oct;55(10):527-30. doi: 10.1016/j.ejmg.2012.06.004. Epub 2012 Jul 2.

PMID:
22766001
16.

De novo reciprocal translocation t(6;14)(q27;q13.3) in a child with infantile spasms.

Hattori H, Hayashi K, Okuno T, Temma S, Fujii T, Ochi J, Mikawa H.

Epilepsia. 1985 Jul-Aug;26(4):310-3.

PMID:
4006889
17.

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
18.

Clinical, MRI, and pathological features of polymicrogyria in chromosome 22q11 deletion syndrome.

Sztriha L, Guerrini R, Harding B, Stewart F, Chelloug N, Johansen JG.

Am J Med Genet A. 2004 Jun 15;127A(3):313-7.

PMID:
15150787
19.

Infantile spasms in a boy with an abnormal karyotype (46, XY, der(9)t(7;9)(p15;p22)pat).

Zhong M, Dong Y, Li M, Yao H.

Neurol India. 2014 Mar-Apr;62(2):189-91. doi: 10.4103/0028-3886.132393.

20.

Boy with seizures (West syndrome) and distal 7q duplication syndrome due to an unbalanced 7q;9p translocation.

Tüysüz B, Demirel A, Uysal S, Beyer V, Bartsch O.

Genet Couns. 2008;19(1):29-35.

PMID:
18564498

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