231 related articles for article (PubMed ID: 21109226)
1. Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.
Ramocki MB; Bartnik M; Szafranski P; Kołodziejska KE; Xia Z; Bravo J; Miller GS; Rodriguez DL; Williams CA; Bader PI; Szczepanik E; Mazurczak T; Antczak-Marach D; Coldwell JG; Akman CI; McAlmon K; Cohen MP; McGrath J; Roeder E; Mueller J; Kang SH; Bacino CA; Patel A; Bocian E; Shaw CA; Cheung SW; Mazurczak T; Stankiewicz P
Am J Hum Genet; 2010 Dec; 87(6):857-65. PubMed ID: 21109226
[TBL] [Abstract][Full Text] [Related]
2. Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits.
Fusco C; Micale L; Augello B; Teresa Pellico M; Menghini D; Alfieri P; Cristina Digilio M; Mandriani B; Carella M; Palumbo O; Vicari S; Merla G
Eur J Hum Genet; 2014 Jan; 22(1):64-70. PubMed ID: 23756441
[TBL] [Abstract][Full Text] [Related]
3. Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region.
Nicita F; Garone G; Spalice A; Savasta S; Striano P; Pantaleoni C; Spartà MV; Kluger G; Capovilla G; Pruna D; Freri E; D'Arrigo S; Verrotti A
Am J Med Genet A; 2016 Jan; 170A(1):148-55. PubMed ID: 26437767
[TBL] [Abstract][Full Text] [Related]
4. Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile.
Alesi V; Loddo S; Orlando V; Genovese S; Di Tommaso S; Liambo MT; Pompili D; Ferretti D; Calacci C; Catino G; Falasca R; Dentici ML; Novelli A; Digilio MC; Dallapiccola B
Am J Med Genet A; 2021 Jan; 185(1):242-249. PubMed ID: 33098373
[TBL] [Abstract][Full Text] [Related]
5. Genetic Generalized Epilepsy and Intrafamilial Phenotypic Variability with Distal 7q11.23 Deletion.
Birca V; Myers KA
Child Neurol Open; 2022; 9():2329048X221093173. PubMed ID: 35481155
[No Abstract] [Full Text] [Related]
6. 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. PubMed ID: 25596525
[TBL] [Abstract][Full Text] [Related]
7. 15q24.1 BP4-BP1 microdeletion unmasking paternally inherited functional polymorphisms combined with distal 15q24.2q24.3 duplication in a patient with epilepsy, psychomotor delay, overweight, ventricular arrhythmia.
Huynh MT; Lambert AS; Tosca L; Petit F; Philippe C; Parisot F; Benoît V; Linglart A; Brisset S; Tran CT; Tachdjian G; Receveur A
Eur J Med Genet; 2018 Aug; 61(8):459-464. PubMed ID: 29549028
[TBL] [Abstract][Full Text] [Related]
8. Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Stankiewicz P; Kulkarni S; Dharmadhikari AV; Sampath S; Bhatt SS; Shaikh TH; Xia Z; Pursley AN; Cooper ML; Shinawi M; Paciorkowski AR; Grange DK; Noetzel MJ; Saunders S; Simons P; Summar M; Lee B; Scaglia F; Fellmann F; Martinet D; Beckmann JS; Asamoah A; Platky K; Sparks S; Martin AS; Madan-Khetarpal S; Hoover J; Medne L; Bonnemann CG; Moeschler JB; Vallee SE; Parikh S; Irwin P; Dalzell VP; Smith WE; Banks VC; Flannery DB; Lovell CM; Bellus GA; Golden-Grant K; Gorski JL; Kussmann JL; McGregor TL; Hamid R; Pfotenhauer J; Ballif BC; Shaw CA; Kang SH; Bacino CA; Patel A; Rosenfeld JA; Cheung SW; Shaffer LG
Hum Mutat; 2012 Jan; 33(1):165-79. PubMed ID: 21948486
[TBL] [Abstract][Full Text] [Related]
9. GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region.
Morris CA; Mervis CB; Hobart HH; Gregg RG; Bertrand J; Ensing GJ; Sommer A; Moore CA; Hopkin RJ; Spallone PA; Keating MT; Osborne L; Kimberley KW; Stock AD
Am J Med Genet A; 2003 Nov; 123A(1):45-59. PubMed ID: 14556246
[TBL] [Abstract][Full Text] [Related]
10. Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
Kim HG; Rosenfeld JA; Scott DA; Bénédicte G; Labonne JD; Brown J; McGuire M; Mahida S; Naidu S; Gutierrez J; Lesca G; des Portes V; Bruel AL; Sorlin A; Xia F; Capri Y; Muller E; McKnight D; Torti E; Rüschendorf F; Hummel O; Islam Z; Kolatkar PR; Layman LC; Ryu D; Kong IK; Madan-Khetarpal S; Kim CH
Mol Autism; 2019; 10():35. PubMed ID: 31649809
[TBL] [Abstract][Full Text] [Related]
11. Copy number variants at Williams-Beuren syndrome 7q11.23 region.
Merla G; Brunetti-Pierri N; Micale L; Fusco C
Hum Genet; 2010 Jul; 128(1):3-26. PubMed ID: 20437059
[TBL] [Abstract][Full Text] [Related]
12. A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes.
Shinawi M; Schaaf CP; Bhatt SS; Xia Z; Patel A; Cheung SW; Lanpher B; Nagl S; Herding HS; Nevinny-Stickel C; Immken LL; Patel GS; German JR; Beaudet AL; Stankiewicz P
Nat Genet; 2009 Dec; 41(12):1269-71. PubMed ID: 19898479
[TBL] [Abstract][Full Text] [Related]
13. Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.
Dharmadhikari AV; Kang SH; Szafranski P; Person RE; Sampath S; Prakash SK; Bader PI; Phillips JA; Hannig V; Williams M; Vinson SS; Wilfong AA; Reimschisel TE; Craigen WJ; Patel A; Bi W; Lupski JR; Belmont J; Cheung SW; Stankiewicz P
Hum Mol Genet; 2012 Aug; 21(15):3345-55. PubMed ID: 22543972
[TBL] [Abstract][Full Text] [Related]
14. Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly.
Komoike Y; Fujii K; Nishimura A; Hiraki Y; Hayashidani M; Shimojima K; Nishizawa T; Higashi K; Yasukawa K; Saitsu H; Miyake N; Mizuguchi T; Matsumoto N; Osawa M; Kohno Y; Higashinakagawa T; Yamamoto T
Genesis; 2010 Apr; 48(4):233-43. PubMed ID: 20146355
[TBL] [Abstract][Full Text] [Related]
15. Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.
Barøy T; Misceo D; Strømme P; Stray-Pedersen A; Holmgren A; Rødningen OK; Blomhoff A; Helle JR; Stormyr A; Tvedt B; Fannemel M; Frengen E
Orphanet J Rare Dis; 2013 Jan; 8():3. PubMed ID: 23294540
[TBL] [Abstract][Full Text] [Related]
16. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
Talkowski ME; Mullegama SV; Rosenfeld JA; van Bon BW; Shen Y; Repnikova EA; Gastier-Foster J; Thrush DL; Kathiresan S; Ruderfer DM; Chiang C; Hanscom C; Ernst C; Lindgren AM; Morton CC; An Y; Astbury C; Brueton LA; Lichtenbelt KD; Ades LC; Fichera M; Romano C; Innis JW; Williams CA; Bartholomew D; Van Allen MI; Parikh A; Zhang L; Wu BL; Pyatt RE; Schwartz S; Shaffer LG; de Vries BB; Gusella JF; Elsea SH
Am J Hum Genet; 2011 Oct; 89(4):551-63. PubMed ID: 21981781
[TBL] [Abstract][Full Text] [Related]
17. Clinical and molecular characterization of patients with YWHAG-related epilepsy.
Cetica V; Pisano T; Lesca G; Marafi D; Licchetta L; Riccardi F; Mei D; Chung HB; Bayat A; Balasubramanian M; Lowenstein DH; Endzinienė M; Alotaibi M; Villeneuve N; Jacobs J; Isidor B; Solazzi R; den Hollander NS; Marjanovic D; Rougeot-Jung C; Jung J; Lesieur-Sebellin M; Accogli A; Salpietro V; Saadi NW; Panagiotakaki E; Foiadelli T; Redon S; Tsai MH; Bisulli F; Hammer TB; Lupski JR; Parrini E; Guerrini R;
Epilepsia; 2024 May; 65(5):1439-1450. PubMed ID: 38491959
[TBL] [Abstract][Full Text] [Related]
18. A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.
Mucha BE; Banka S; Ajeawung NF; Molidperee S; Chen GG; Koenig MK; Adejumo RB; Till M; Harbord M; Perrier R; Lemyre E; Boucher RM; Skotko BG; Waxler JL; Thomas MA; Hodge JC; Gecz J; Nicholl J; McGregor L; Linden T; Sisodiya SM; Sanlaville D; Cheung SW; Ernst C; Campeau PM
Genet Med; 2019 May; 21(5):1058-1064. PubMed ID: 30245510
[TBL] [Abstract][Full Text] [Related]
19. Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.
Yuan B; Neira J; Gu S; Harel T; Liu P; Briceño I; Elsea SH; Gómez A; Potocki L; Lupski JR
Hum Genet; 2016 Oct; 135(10):1161-74. PubMed ID: 27386852
[TBL] [Abstract][Full Text] [Related]
20. 15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity.
Courage C; Houge G; Gallati S; Schjelderup J; Rieubland C
Eur J Med Genet; 2014 Sep; 57(9):520-3. PubMed ID: 24932903
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
