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Results: 1 to 20 of 95

1.

Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR.

Terracciano A, Specchio N, Darra F, Sferra A, Bernardina BD, Vigevano F, Bertini E.

Neurogenetics. 2012 Nov;13(4):341-5. doi: 10.1007/s10048-012-0342-9. Epub 2012 Sep 6.

PMID:
22949144
[PubMed - indexed for MEDLINE]
2.

Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome.

Jamal SM, Basran RK, Newton S, Wang Z, Milunsky JM.

Am J Med Genet A. 2010 Oct;152A(10):2475-81. doi: 10.1002/ajmg.a.33611.

PMID:
20830798
[PubMed - indexed for MEDLINE]
3.

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.

Hynes K, Tarpey P, Dibbens LM, Bayly MA, Berkovic SF, Smith R, Raisi ZA, Turner SJ, Brown NJ, Desai TD, Haan E, Turner G, Christodoulou J, Leonard H, Gill D, Stratton MR, Gecz J, Scheffer IE.

J Med Genet. 2010 Mar;47(3):211-6. doi: 10.1136/jmg.2009.068817. Epub 2009 Sep 14.

PMID:
19752159
[PubMed - indexed for MEDLINE]
4.

Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders.

van Harssel JJ, Weckhuysen S, van Kempen MJ, Hardies K, Verbeek NE, de Kovel CG, Gunning WB, van Daalen E, de Jonge MV, Jansen AC, Vermeulen RJ, Arts WF, Verhelst H, Fogarasi A, de Rijk-van Andel JF, Kelemen A, Lindhout D, De Jonghe P, Koeleman BP, Suls A, Brilstra EH.

Neurogenetics. 2013 Feb;14(1):23-34. doi: 10.1007/s10048-013-0353-1. Epub 2013 Jan 20.

PMID:
23334464
[PubMed - indexed for MEDLINE]
5.

Identification of genomic deletions spanning the PCDH19 gene in two unrelated girls with intellectual disability and seizures.

Vincent AK, Noor A, Janson A, Minassian BA, Ayub M, Vincent JB, Morel CF.

Clin Genet. 2012 Dec;82(6):540-5. doi: 10.1111/j.1399-0004.2011.01812.x. Epub 2011 Dec 13.

PMID:
22091964
[PubMed - indexed for MEDLINE]
6.

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.

Dibbens LM, Tarpey PS, Hynes K, Bayly MA, Scheffer IE, Smith R, Bomar J, Sutton E, Vandeleur L, Shoubridge C, Edkins S, Turner SJ, Stevens C, O'Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Jones D, Lee R, Madison M, Mironenko T, Varian J, West S, Widaa S, Wray P, Teague J, Dicks E, Butler A, Menzies A, Jenkinson A, Shepherd R, Gusella JF, Afawi Z, Mazarib A, Neufeld MY, Kivity S, Lev D, Lerman-Sagie T, Korczyn AD, Derry CP, Sutherland GR, Friend K, Shaw M, Corbett M, Kim HG, Geschwind DH, Thomas P, Haan E, Ryan S, McKee S, Berkovic SF, Futreal PA, Stratton MR, Mulley JC, Gécz J.

Nat Genet. 2008 Jun;40(6):776-81. doi: 10.1038/ng.149. Epub 2008 May 11.

PMID:
18469813
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations.

Dibbens LM, Kneen R, Bayly MA, Heron SE, Arsov T, Damiano JA, Desai T, Gibbs J, McKenzie F, Mulley JC, Ronan A, Scheffer IE.

Neurology. 2011 Apr 26;76(17):1514-9. doi: 10.1212/WNL.0b013e318217e7b6.

PMID:
21519002
[PubMed - indexed for MEDLINE]
8.

PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.

Depienne C, LeGuern E.

Hum Mutat. 2012 Apr;33(4):627-34. doi: 10.1002/humu.22029. Epub 2012 Feb 14. Review.

PMID:
22267240
[PubMed - indexed for MEDLINE]
9.

Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.

Depienne C, Trouillard O, Bouteiller D, Gourfinkel-An I, Poirier K, Rivier F, Berquin P, Nabbout R, Chaigne D, Steschenko D, Gautier A, Hoffman-Zacharska D, Lannuzel A, Lackmy-Port-Lis M, Maurey H, Dusser A, Bru M, Gilbert-Dussardier B, Roubertie A, Kaminska A, Whalen S, Mignot C, Baulac S, Lesca G, Arzimanoglou A, LeGuern E.

Hum Mutat. 2011 Jan;32(1):E1959-75. doi: 10.1002/humu.21373.

PMID:
21053371
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

A novel PCDH19 mutation inherited from an unaffected mother.

Dimova PS, Kirov A, Todorova A, Todorov T, Mitev V.

Pediatr Neurol. 2012 Jun;46(6):397-400. doi: 10.1016/j.pediatrneurol.2012.03.004.

PMID:
22633638
[PubMed - indexed for MEDLINE]
11.

Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.

Guerrini R, Mei D, Sisodiya S, Sicca F, Harding B, Takahashi Y, Dorn T, Yoshida A, Campistol J, Krämer G, Moro F, Dobyns WB, Parrini E.

Neurology. 2004 Jul 13;63(1):51-6.

PMID:
15249610
[PubMed - indexed for MEDLINE]
12.

Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22.

des Portes V, Pinard JM, Smadja D, Motte J, Boespflüg-Tanguy O, Moutard ML, Desguerre I, Billuart P, Carrie A, Bienvenu T, Vinet MC, Bachner L, Beldjord C, Dulac O, Kahn A, Ponsot G, Chelly J.

J Med Genet. 1997 Mar;34(3):177-83.

PMID:
9132485
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Epilepsy and mental retardation limited to females: an under-recognized disorder.

Scheffer IE, Turner SJ, Dibbens LM, Bayly MA, Friend K, Hodgson B, Burrows L, Shaw M, Wei C, Ullmann R, Ropers HH, Szepetowski P, Haan E, Mazarib A, Afawi Z, Neufeld MY, Andrews PI, Wallace G, Kivity S, Lev D, Lerman-Sagie T, Derry CP, Korczyn AD, Gecz J, Mulley JC, Berkovic SF.

Brain. 2008 Apr;131(Pt 4):918-27. doi: 10.1093/brain/awm338. Epub 2008 Jan 29.

PMID:
18234694
[PubMed - indexed for MEDLINE]
Free Article
14.

Cognitive and behavioral profile in females with epilepsy with PDCH19 mutation: two novel mutations and review of the literature.

Camacho A, Simón R, Sanz R, Viñuela A, Martínez-Salio A, Mateos F.

Epilepsy Behav. 2012 May;24(1):134-7. doi: 10.1016/j.yebeh.2012.02.023. Epub 2012 Apr 14. Review.

PMID:
22504056
[PubMed - indexed for MEDLINE]
15.

MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother.

Dayer AG, Bottani A, Bouchardy I, Fluss J, Antonarakis SE, Haenggeli CA, Morris MA.

Brain Dev. 2007 Jan;29(1):47-50. Epub 2006 Jul 17.

PMID:
16844334
[PubMed - indexed for MEDLINE]
16.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
[PubMed - indexed for MEDLINE]
17.

PCDH19 mutation in Japanese females with epilepsy.

Higurashi N, Shi X, Yasumoto S, Oguni H, Sakauchi M, Itomi K, Miyamoto A, Shiraishi H, Kato T, Makita Y, Hirose S.

Epilepsy Res. 2012 Mar;99(1-2):28-37. doi: 10.1016/j.eplepsyres.2011.10.014. Epub 2011 Nov 1.

PMID:
22050978
[PubMed - indexed for MEDLINE]
18.

Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy.

Depienne C, Arzimanoglou A, Trouillard O, Fedirko E, Baulac S, Saint-Martin C, Ruberg M, Dravet C, Nabbout R, Baulac M, Gourfinkel-An I, LeGuern E.

Hum Mutat. 2006 Apr;27(4):389.

PMID:
16541393
[PubMed - indexed for MEDLINE]
19.

Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion.

Psoni S, Sofocleous C, Traeger-Synodinos J, Kitsiou-Tzeli S, Kanavakis E, Fryssira-Kanioura H.

Pediatr Res. 2010 May;67(5):551-6. doi: 10.1203/PDR.0b013e3181d4ecf7.

PMID:
20098342
[PubMed - indexed for MEDLINE]
20.

Acute-onset epilepsy triggered by fever mimicking FIRES (febrile infection-related epilepsy syndrome): the role of protocadherin 19 (PCDH19) gene mutation.

Specchio N, Fusco L, Vigevano F.

Epilepsia. 2011 Nov;52(11):e172-5. doi: 10.1111/j.1528-1167.2011.03193.x. Epub 2011 Jul 21.

PMID:
21777234
[PubMed - indexed for MEDLINE]

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