793 related articles for article (PubMed ID: 22766398)
1. 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]
2. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.
Battaglia A; Hoyme HE; Dallapiccola B; Zackai E; Hudgins L; McDonald-McGinn D; Bahi-Buisson N; Romano C; Williams CA; Brailey LL; Zuberi SM; Carey JC
Pediatrics; 2008 Feb; 121(2):404-10. PubMed ID: 18245432
[TBL] [Abstract][Full Text] [Related]
3. Microdeletion and microduplication 17q21.31 plus an additional CNV, in patients with intellectual disability, identified by array-CGH.
Kitsiou-Tzeli S; Frysira H; Giannikou K; Syrmou A; Kosma K; Kakourou G; Leze E; Sofocleous C; Kanavakis E; Tzetis M
Gene; 2012 Jan; 492(1):319-24. PubMed ID: 22037486
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. De novo unbalanced translocation 2;4 characterized by metaphase CGH and array CGH in a child with mental retardation and dysmorphic features.
Debost-Legrand A; Capri Y; Gouas L; Pebrel-Richard C; Veronese L; Tchirkov A; Haoud K; Boespflug-Tanguy O; Goumy C; Vago P
Pathol Biol (Paris); 2011 Dec; 59(6):309-13. PubMed ID: 21145667
[TBL] [Abstract][Full Text] [Related]
6. Complex constitutional subtelomeric 1p36.3 deletion/duplication in a mentally retarded child with neonatal neuroblastoma.
Isidor B; Le Cunff M; Boceno M; Boisseau P; Thomas C; Rival JM; David A; Le Caignec C
Eur J Med Genet; 2008; 51(6):679-84. PubMed ID: 18672103
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome.
Kang SH; Scheffer A; Ou Z; Li J; Scaglia F; Belmont J; Lalani SR; Roeder E; Enciso V; Braddock S; Buchholz J; Vacha S; Chinault AC; Cheung SW; Bacino CA
Clin Genet; 2007 Oct; 72(4):329-38. PubMed ID: 17850629
[TBL] [Abstract][Full Text] [Related]
9. Siblings with opposite chromosome constitutions, dup(2q)/del(7q) and del(2q)/dup(7q).
Shim SH; Shim JS; Min K; Lee HS; Park JE; Park SH; Hwang E; Kim M
Gene; 2014 Jan; 534(1):100-6. PubMed ID: 24095776
[TBL] [Abstract][Full Text] [Related]
10. Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.
Yu W; Ballif BC; Kashork CD; Heilstedt HA; Howard LA; Cai WW; White LD; Liu W; Beaudet AL; Bejjani BA; Shaw CA; Shaffer LG
Hum Mol Genet; 2003 Sep; 12(17):2145-52. PubMed ID: 12915473
[TBL] [Abstract][Full Text] [Related]
11. Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome.
Koczkowska M; Wierzba J; Śmigiel R; Sąsiadek M; Cabała M; Ślężak R; Iliszko M; Kardaś I; Limon J; Lipska-Ziętkiewicz BS
J Appl Genet; 2017 Feb; 58(1):93-98. PubMed ID: 27629806
[TBL] [Abstract][Full Text] [Related]
12. Usefulness of high-resolution comparative genomic hybridization (CGH) for detecting and characterizing constitutional chromosome abnormalities.
Ness GO; Lybaek H; Houge G
Am J Med Genet; 2002 Nov; 113(2):125-36. PubMed ID: 12407702
[TBL] [Abstract][Full Text] [Related]
13. Cytogenetic and array CGH characterization of de novo 1p36 duplications and deletion in a patient with congenital cataracts, hearing loss, choanal atresia, and mental retardation.
Chen E; Obolensky E; Rauen KA; Shaffer LG; Li X
Am J Med Genet A; 2008 Nov; 146A(21):2785-90. PubMed ID: 18924166
[TBL] [Abstract][Full Text] [Related]
14. Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions.
El-Hattab AW; Fang P; Jin W; Hughes JR; Gibson JB; Patel GS; Grange DK; Manwaring LP; Patel A; Stankiewicz P; Cheung SW
J Med Genet; 2011 Dec; 48(12):840-50. PubMed ID: 21984752
[TBL] [Abstract][Full Text] [Related]
15. Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome?
Redon R; Rio M; Gregory SG; Cooper RA; Fiegler H; Sanlaville D; Banerjee R; Scott C; Carr P; Langford C; Cormier-Daire V; Munnich A; Carter NP; Colleaux L
J Med Genet; 2005 Feb; 42(2):166-71. PubMed ID: 15689456
[No Abstract] [Full Text] [Related]
16. 15q11.2 proximal imbalances associated with a diverse array of neuropsychiatric disorders and mild dysmorphic features.
Abdelmoity AT; LePichon JB; Nyp SS; Soden SE; Daniel CA; Yu S
J Dev Behav Pediatr; 2012 Sep; 33(7):570-6. PubMed ID: 22922608
[TBL] [Abstract][Full Text] [Related]
17. Delineation of a recognisable phenotype of interstitial deletion 3 (q22.3q25.1) in a case with previously unreported truncus arteriosus.
Rea G; McCullough S; McNerlan S; Craig B; Morrison PJ
Eur J Med Genet; 2010; 53(3):162-7. PubMed ID: 20215058
[TBL] [Abstract][Full Text] [Related]
18. Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability.
Naoufal R; Legendre M; Couet D; Gilbert-Dussardier B; Kitzis A; Bilan F; Harbuz R
Eur J Med Genet; 2016 Sep; 59(9):483-7. PubMed ID: 27452446
[TBL] [Abstract][Full Text] [Related]
19. Cryptic trisomy 5q35.2qter and deletion 1p36.3 characterised using FISH and array-based CGH.
Utine EG; Alanay Y; Aktas D; Alikasifoglu M; Boduroglu K; Vermeesch J; Tuncbilek E; Fryns JP
Eur J Med Genet; 2008; 51(4):343-50. PubMed ID: 18440888
[TBL] [Abstract][Full Text] [Related]
20. Array comparative genome hybridization in patients with developmental delay: two example cases.
Hancarova M; Drabova J; Zmitkova Z; Vlckova M; Hedvicakova P; Novotna D; Vlckova Z; Vejvalkova S; Marikova T; Sedlacek Z
N Biotechnol; 2012 Feb; 29(3):321-4. PubMed ID: 20969982
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
