235 related articles for article (PubMed ID: 27699255)
1. Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.
Bagheri H; Badduke C; Qiao Y; Colnaghi R; Abramowicz I; Alcantara D; Dunham C; Wen J; Wildin RS; Nowaczyk MJ; Eichmeyer J; Lehman A; Maranda B; Martell S; Shan X; Lewis SM; O'Driscoll M; Gregory-Evans CY; Rajcan-Separovic E
JCI Insight; 2016 Mar; 1(3):e85461. PubMed ID: 27699255
[TBL] [Abstract][Full Text] [Related]
2. Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome.
Lévy J; Coussement A; Dupont C; Guimiot F; Baumann C; Viot G; Passemard S; Capri Y; Drunat S; Verloes A; Pipiras E; Benzacken B; Dupont JM; Tabet AC
Am J Med Genet A; 2017 Aug; 173(8):2081-2087. PubMed ID: 28573701
[TBL] [Abstract][Full Text] [Related]
3. Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome.
Florisson JM; Mathijssen IM; Dumee B; Hoogeboom JA; Poddighe PJ; Oostra BA; Frijns JP; Koster L; de Klein A; Eussen B; de Vries BB; Swagemakers S; van der Spek PJ; Verkerk AJ
Am J Med Genet A; 2013 Feb; 161A(2):244-53. PubMed ID: 23303641
[TBL] [Abstract][Full Text] [Related]
4. Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms.
Fannemel M; Barøy T; Holmgren A; Rødningen OK; Haugsand TM; Hansen B; Frengen E; Misceo D
Eur J Med Genet; 2014 Sep; 57(9):513-9. PubMed ID: 24911659
[TBL] [Abstract][Full Text] [Related]
5. Chromosome 2p15p16.1 microdeletion syndrome: 2.5 Mb deletion in a patient with renal anomalies, intractable seizures and a choledochal cyst.
Hucthagowder V; Liu TC; Paciorkowski AR; Thio LL; Keller MS; Anderson CD; Herman T; Dehner LP; Grange DK; Kulkarni S
Eur J Med Genet; 2012; 55(8-9):485-9. PubMed ID: 22579565
[TBL] [Abstract][Full Text] [Related]
6. De novo microdeletion of BCL11A is associated with severe speech sound disorder.
Peter B; Matsushita M; Oda K; Raskind W
Am J Med Genet A; 2014 Aug; 164A(8):2091-6. PubMed ID: 24810580
[TBL] [Abstract][Full Text] [Related]
7. A patient with de novo 0.45 Mb deletion of 2p16.1: the role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome.
Hancarova M; Simandlova M; Drabova J; Mannik K; Kurg A; Sedlacek Z
Am J Med Genet A; 2013 Apr; 161A(4):865-70. PubMed ID: 23495096
[TBL] [Abstract][Full Text] [Related]
8. Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation.
Piccione M; Piro E; Serraino F; Cavani S; Ciccone R; Malacarne M; Pierluigi M; Vitaloni M; Zuffardi O; Corsello G
Eur J Med Genet; 2012 Apr; 55(4):238-44. PubMed ID: 22406401
[TBL] [Abstract][Full Text] [Related]
9. Trait - driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes.
Miceli M; Failla P; Saccuzzo L; Galesi O; Amata S; Romano C; Bonaglia MC; Fichera M
Genes Genomics; 2023 Apr; 45(4):491-505. PubMed ID: 36807877
[TBL] [Abstract][Full Text] [Related]
10. Haploinsufficiency of
Shimbo H; Yokoi T; Aida N; Mizuno S; Suzumura H; Nagai J; Ida K; Enomoto Y; Hatano C; Kurosawa K
Mol Genet Genomic Med; 2017 Jul; 5(4):429-437. PubMed ID: 28717667
[TBL] [Abstract][Full Text] [Related]
11. Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A.
Balci TB; Sawyer SL; Davila J; Humphreys P; Dyment DA
Eur J Med Genet; 2015; 58(6-7):351-4. PubMed ID: 25979662
[TBL] [Abstract][Full Text] [Related]
12. A de-novo interstitial microduplication involving 2p16.1-p15 and mirroring 2p16.1-p15 microdeletion syndrome: Clinical and molecular analysis.
Mimouni-Bloch A; Yeshaya J; Kahana S; Maya I; Basel-Vanagaite L
Eur J Paediatr Neurol; 2015 Nov; 19(6):711-5. PubMed ID: 26278498
[TBL] [Abstract][Full Text] [Related]
13. Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1.
Rajcan-Separovic E; Harvard C; Liu X; McGillivray B; Hall JG; Qiao Y; Hurlburt J; Hildebrand J; Mickelson EC; Holden JJ; Lewis ME
J Med Genet; 2007 Apr; 44(4):269-76. PubMed ID: 16963482
[TBL] [Abstract][Full Text] [Related]
14. 2p15-p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders.
Liu X; Malenfant P; Reesor C; Lee A; Hudson ML; Harvard C; Qiao Y; Persico AM; Cohen IL; Chudley AE; Forster-Gibson C; Rajcan-Separovic E; Lewis ME; Holden JJ
Eur J Hum Genet; 2011 Dec; 19(12):1264-70. PubMed ID: 21750575
[TBL] [Abstract][Full Text] [Related]
15. A newly recognised microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behaviour, short stature, microcephaly, and dysmorphic features: a new patient with 3.2 Mb deletion.
Liang JS; Shimojima K; Ohno K; Sugiura C; Une Y; Ohno K; Yamamoto T
J Med Genet; 2009 Sep; 46(9):645-7. PubMed ID: 19724011
[No Abstract] [Full Text] [Related]
16. Characteristics of 2p15-p16.1 microdeletion syndrome: Review and description of two additional patients.
Shimojima K; Okamoto N; Yamamoto T
Congenit Anom (Kyoto); 2015 Aug; 55(3):125-32. PubMed ID: 25900130
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.
de Munnik SA; García-Miñaúr S; Hoischen A; van Bon BW; Boycott KM; Schoots J; Hoefsloot LH; Knoers NV; Bongers EM; Brunner HG
Eur J Hum Genet; 2014 Jun; 22(6):844-6. PubMed ID: 24193349
[TBL] [Abstract][Full Text] [Related]
19. Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25.
Burkardt DD; Rosenfeld JA; Helgeson ML; Angle B; Banks V; Smith WE; Gripp KW; Moline J; Moran RT; Niyazov DM; Stevens CA; Zackai E; Lebel RR; Ashley DG; Kramer N; Lachman RS; Graham JM
Am J Med Genet A; 2011 Jun; 155A(6):1336-51. PubMed ID: 21548129
[TBL] [Abstract][Full Text] [Related]
20. Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome.
Palumbo P; Accadia M; Leone MP; Palladino T; Stallone R; Carella M; Palumbo O
Am J Med Genet A; 2018 Feb; 176(2):391-398. PubMed ID: 29193617
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
