366 related articles for article (PubMed ID: 23279911)
1. A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features.
Boudry-Labis E; Demeer B; Le Caignec C; Isidor B; Mathieu-Dramard M; Plessis G; George AM; Taylor J; Aftimos S; Wiemer-Kruel A; Kohlhase J; Annerén G; Firth H; Simonic I; Vermeesch J; Thuresson AC; Copin H; Love DR; Andrieux J
Eur J Med Genet; 2013 Mar; 56(3):163-70. PubMed ID: 23279911
[TBL] [Abstract][Full Text] [Related]
2. Clinical findings in cases with 9q deletion encompassing the 9q21.11q21.32 region.
Tuğ E; Ergün MA; Perçin EF
Turk J Pediatr; 2018; 60(1):94-98. PubMed ID: 30102487
[TBL] [Abstract][Full Text] [Related]
3. RORB gene and 9q21.13 microdeletion: report on a patient with epilepsy and mild intellectual disability.
Baglietto MG; Caridi G; Gimelli G; Mancardi M; Prato G; Ronchetto P; Cuoco C; Tassano E
Eur J Med Genet; 2014 Jan; 57(1):44-6. PubMed ID: 24355400
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. New Insights in 9q21.13 Microdeletion Syndrome: Genotype-Phenotype Correlation of 28 Patients.
De Falco A; Iolascon A; Ascione F; Piscopo C
Genes (Basel); 2023 May; 14(5):. PubMed ID: 37239476
[TBL] [Abstract][Full Text] [Related]
6. Deletion (1)(p32.2-p32.3) detected by array-CGH in a patient with developmental delay/mental retardation, dysmorphic features and low cholesterol: A new microdeletion syndrome?
Mulatinho M; Llerena J; Leren TP; Rao PN; Quintero-Rivera F
Am J Med Genet A; 2008 Sep; 146A(17):2284-90. PubMed ID: 18680192
[TBL] [Abstract][Full Text] [Related]
7. Five patients with novel overlapping interstitial deletions in 8q22.2q22.3.
Kuechler A; Buysse K; Clayton-Smith J; Le Caignec C; David A; Engels H; Kohlhase J; Mari F; Mortier G; Renieri A; Wieczorek D
Am J Med Genet A; 2011 Aug; 155A(8):1857-64. PubMed ID: 21739578
[TBL] [Abstract][Full Text] [Related]
8. 6p subtelomere deletion with congenital glaucoma, severe mental retardation, and growth impairment.
Nakane T; Kousuke N; Sonoko H; Yuko K; Sato H; Kubota T; Sugita K
Pediatr Int; 2013 Jun; 55(3):376-81. PubMed ID: 23782370
[TBL] [Abstract][Full Text] [Related]
9. Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech.
Bonnet C; Andrieux J; Béri-Dexheimer M; Leheup B; Boute O; Manouvrier S; Delobel B; Copin H; Receveur A; Mathieu M; Thiriez G; Le Caignec C; David A; de Blois MC; Malan V; Philippe A; Cormier-Daire V; Colleaux L; Flori E; Dollfus H; Pelletier V; Thauvin-Robinet C; Masurel-Paulet A; Faivre L; Tardieu M; Bahi-Buisson N; Callier P; Mugneret F; Edery P; Jonveaux P; Sanlaville D
J Med Genet; 2010 Jun; 47(6):377-84. PubMed ID: 20522426
[TBL] [Abstract][Full Text] [Related]
10. Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.
Rudolf G; Lesca G; Mehrjouy MM; Labalme A; Salmi M; Bache I; Bruneau N; Pendziwiat M; Fluss J; de Bellescize J; Scholly J; Møller RS; Craiu D; Tommerup N; Valenti-Hirsch MP; Schluth-Bolard C; Sloan-Béna F; Helbig KL; Weckhuysen S; Edery P; Coulbaut S; Abbas M; Scheffer IE; Tang S; Myers CT; Stamberger H; Carvill GL; Shinde DN; Mefford HC; Neagu E; Huether R; Lu HM; Dica A; Cohen JS; Iliescu C; Pomeran C; Rubenstein J; Helbig I; Sanlaville D; Hirsch E; Szepetowski P
Eur J Hum Genet; 2016 Dec; 24(12):1761-1770. PubMed ID: 27352968
[TBL] [Abstract][Full Text] [Related]
11. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.
Shinawi M; Liu P; Kang SH; Shen J; Belmont JW; Scott DA; Probst FJ; Craigen WJ; Graham BH; Pursley A; Clark G; Lee J; Proud M; Stocco A; Rodriguez DL; Kozel BA; Sparagana S; Roeder ER; McGrew SG; Kurczynski TW; Allison LJ; Amato S; Savage S; Patel A; Stankiewicz P; Beaudet AL; Cheung SW; Lupski JR
J Med Genet; 2010 May; 47(5):332-41. PubMed ID: 19914906
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. De novo interstitial deletion of 9q32-34.1 with mental retardation, developmental delay, epilepsy, and cortical dysplasia: a case report.
Tos T; Alp MY; Karacan CD; Andiran N; Colakoglu EY
Genet Couns; 2014; 25(2):197-201. PubMed ID: 25059019
[TBL] [Abstract][Full Text] [Related]
14. A 16q12.2q21 deletion identified in a patient with developmental delay, epilepsy, short stature, and distinctive features.
Yamamoto T; Shimojima K; Yamazaki S; Ikeno K; Tohyama J
Congenit Anom (Kyoto); 2016 Nov; 56(6):253-255. PubMed ID: 27230627
[TBL] [Abstract][Full Text] [Related]
15. Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome).
Sarasua SM; Dwivedi A; Boccuto L; Rollins JD; Chen CF; Rogers RC; Phelan K; DuPont BR; Collins JS
J Med Genet; 2011 Nov; 48(11):761-6. PubMed ID: 21984749
[TBL] [Abstract][Full Text] [Related]
16. 372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment.
Marseglia G; Scordo MR; Pescucci C; Nannetti G; Biagini E; Scandurra V; Gerundino F; Magi A; Benelli M; Torricelli F
Eur J Med Genet; 2012 Mar; 55(3):216-21. PubMed ID: 22333924
[TBL] [Abstract][Full Text] [Related]
17. Further clinical and molecular delineation of the 15q24 microdeletion syndrome.
Mefford HC; Rosenfeld JA; Shur N; Slavotinek AM; Cox VA; Hennekam RC; Firth HV; Willatt L; Wheeler P; Morrow EM; Cook J; Sullivan R; Oh A; McDonald MT; Zonana J; Keller K; Hannibal MC; Ball S; Kussmann J; Gorski J; Zelewski S; Banks V; Smith W; Smith R; Paull L; Rosenbaum KN; Amor DJ; Silva J; Lamb A; Eichler EE
J Med Genet; 2012 Feb; 49(2):110-8. PubMed ID: 22180641
[TBL] [Abstract][Full Text] [Related]
18. Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication.
Vuillaume ML; Delrue MA; Naudion S; Toutain J; Fergelot P; Arveiler B; Lacombe D; Rooryck C
Mol Genet Metab; 2013; 110(1-2):90-7. PubMed ID: 23920044
[TBL] [Abstract][Full Text] [Related]
19. A 5.6-Mb deletion in 15q14 in a boy with speech and language disorder, cleft palate, epilepsy, a ventricular septal defect, mental retardation and developmental delay.
Chen CP; Lin SP; Tsai FJ; Chern SR; Lee CC; Wang W
Eur J Med Genet; 2008; 51(4):368-72. PubMed ID: 18458017
[TBL] [Abstract][Full Text] [Related]
20. Further delineation of novel 1p36 rearrangements by array-CGH analysis: narrowing the breakpoints and clarifying the "extended" phenotype.
Giannikou K; Fryssira H; Oikonomakis V; Syrmou A; Kosma K; Tzetis M; Kitsiou-Tzeli S; Kanavakis E
Gene; 2012 Sep; 506(2):360-8. PubMed ID: 22766398
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
