154 related articles for article (PubMed ID: 22052796)
1. A de novo 3.54 Mb deletion of 17q22-q23.1 associated with hydrocephalus: a case report and review of literature.
Khattab M; Xu F; Li P; Bhandari V
Am J Med Genet A; 2011 Dec; 155A(12):3082-6. PubMed ID: 22052796
[TBL] [Abstract][Full Text] [Related]
2. Myoclonic epilepsy in a child with 17q22-q23.1 deletion.
Coppola A; Tostevin A; McTague A; Pressler RM; Cross JH; Sisodiya SM
Am J Med Genet A; 2013 Aug; 161A(8):2036-9. PubMed ID: 23794376
[TBL] [Abstract][Full Text] [Related]
3. Molecular and clinical delineation of the 17q22 microdeletion phenotype.
Laurell T; Lundin J; Anderlid BM; Gorski JL; Grigelioniene G; Knight SJ; Krepischi AC; Nordenskjöld A; Price SM; Rosenberg C; Turnpenny PD; Vianna-Morgante AM; Nordgren A
Eur J Hum Genet; 2013 Oct; 21(10):1085-92. PubMed ID: 23361222
[TBL] [Abstract][Full Text] [Related]
4. A 1.6-Mb microdeletion in chromosome 17q22 leads to NOG-related symphalangism spectrum disorder without intellectual disability.
Pang X; Luo H; Chai Y; Wang X; Sun L; He L; Chen P; Wu H; Yang T
PLoS One; 2015; 10(3):e0120816. PubMed ID: 25815513
[TBL] [Abstract][Full Text] [Related]
5. Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hypertension.
Nimmakayalu M; Major H; Sheffield V; Solomon DH; Smith RJ; Patil SR; Shchelochkov OA
Am J Med Genet A; 2011 Feb; 155A(2):418-23. PubMed ID: 21271665
[TBL] [Abstract][Full Text] [Related]
6. Karyotype-phenotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangement.
Li P; Zhang HZ; Huff S; Nimmakayalu M; Qumsiyeh M; Yu J; Szekely A; Xu T; Pober BR
Am J Med Genet A; 2006 Dec; 140(24):2721-9. PubMed ID: 17103440
[TBL] [Abstract][Full Text] [Related]
7. A novel interstitial deletion of chromosome 2q21.1-q23.3: Case report and literature review.
Almuzzaini B; Alatwi NS; Alsaif S; Al Balwi MA
Mol Genet Genomic Med; 2020 Apr; 8(4):e1135. PubMed ID: 31989799
[TBL] [Abstract][Full Text] [Related]
8. Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.
Ballif BC; Theisen A; Rosenfeld JA; Traylor RN; Gastier-Foster J; Thrush DL; Astbury C; Bartholomew D; McBride KL; Pyatt RE; Shane K; Smith WE; Banks V; Gallentine WB; Brock P; Rudd MK; Adam MP; Keene JA; Phillips JA; Pfotenhauer JP; Gowans GC; Stankiewicz P; Bejjani BA; Shaffer LG
Am J Hum Genet; 2010 Mar; 86(3):454-61. PubMed ID: 20206336
[TBL] [Abstract][Full Text] [Related]
9. Chromosome 1p32-p31 deletion syndrome: prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes and association with NFIA haploinsufficiency, ventriculomegaly, corpus callosum hypogenesis, abnormal external genitalia, and intrauterine growth restriction.
Chen CP; Su YN; Chen YY; Chern SR; Liu YP; Wu PC; Lee CC; Chen YT; Wang W
Taiwan J Obstet Gynecol; 2011 Sep; 50(3):345-52. PubMed ID: 22030051
[TBL] [Abstract][Full Text] [Related]
10. Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.
Peddibhotla S; Nagamani SC; Erez A; Hunter JV; Holder JL; Carlin ME; Bader PI; Perras HM; Allanson JE; Newman L; Simpson G; Immken L; Powell E; Mohanty A; Kang SH; Stankiewicz P; Bacino CA; Bi W; Patel A; Cheung SW
Eur J Hum Genet; 2015 Jan; 23(1):54-60. PubMed ID: 24736736
[TBL] [Abstract][Full Text] [Related]
11. Fetal ventriculomegaly due to familial submicroscopic terminal 6q deletions.
Wadt K; Jensen LN; Bjerglund L; Lundstrøm M; Kirchhoff M; Kjaergaard S
Prenat Diagn; 2012 Dec; 32(12):1212-7. PubMed ID: 23065819
[TBL] [Abstract][Full Text] [Related]
12. Mosaic microdeletion of 17p11.2-p12 and duplication of 17q22-q24 in a girl with Smith-Magenis phenotype and peripheral neuropathy.
Goh ES; Banwell B; Stavropoulos DJ; Shago M; Yoon G
Am J Med Genet A; 2014 Mar; 164A(3):748-52. PubMed ID: 24357149
[TBL] [Abstract][Full Text] [Related]
13. 22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.
Ben-Shachar S; Ou Z; Shaw CA; Belmont JW; Patel MS; Hummel M; Amato S; Tartaglia N; Berg J; Sutton VR; Lalani SR; Chinault AC; Cheung SW; Lupski JR; Patel A
Am J Hum Genet; 2008 Jan; 82(1):214-21. PubMed ID: 18179902
[TBL] [Abstract][Full Text] [Related]
14. 12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A.
Niclass T; Le Guyader G; Beneteau C; Joubert M; Pizzuti A; Giuffrida MG; Bernardini L; Gilbert-Dussardier B; Bilan F; Egloff M
Am J Med Genet A; 2020 Sep; 182(9):2133-2138. PubMed ID: 32633079
[TBL] [Abstract][Full Text] [Related]
15. 5.9 Mb microdeletion in chromosome band 17q22-q23.2 associated with tracheo-esophageal fistula and conductive hearing loss.
Puusepp H; Zilina O; Teek R; Männik K; Parkel S; Kruustük K; Kuuse K; Kurg A; Ounap K
Eur J Med Genet; 2009; 52(1):71-4. PubMed ID: 18983945
[TBL] [Abstract][Full Text] [Related]
16. De novo interstitial deletion in the long arm of chromosome 11: a case report.
Li LL; Zhang HG; Shao XG; Gao JC; Zhang HY; Liu RZ
Genet Mol Res; 2016 Jul; 15(2):. PubMed ID: 27421024
[TBL] [Abstract][Full Text] [Related]
17. Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomalies.
Pua HH; Krishnamurthi S; Farrell J; Margeta M; Ursell PC; Powers M; Slavotinek AM; Jeng LJ
Am J Med Genet A; 2014 Jan; 164A(1):237-42. PubMed ID: 24501764
[TBL] [Abstract][Full Text] [Related]
18. Molecular cytogenetic characterization of inv dup del(8p) in a fetus associated with ventriculomegaly, hypoplastic left heart, polyhydramnios and intestinal obstruction.
Chen CP; Ko TM; Huang WC; Chern SR; Wu PS; Chen YN; Chen SW; Lee CC; Pan CW; Yang CW; Wang W
Taiwan J Obstet Gynecol; 2016 Jun; 55(3):415-8. PubMed ID: 27343326
[TBL] [Abstract][Full Text] [Related]
19. A de novo proximal 6q deletion confirmed by array comparative genomic hybridization.
Woo KS; Kim JE; Kim KE; Kim MJ; Yoo JH; Ahn HS; Shaffer LG; Han JY
Korean J Lab Med; 2010 Feb; 30(1):84-8. PubMed ID: 20197728
[TBL] [Abstract][Full Text] [Related]
20. Comparative genomic hybridization reveals a partial de novo trisomy 6q23-qter in an infant with congenital malformations: delineation of the phenotype.
Erdel M; Duba HC; Verdorfer I; Lingenhel A; Geiger R; Gutenberger KH; Ludescher E; Utermann B; Utermann G
Hum Genet; 1997 May; 99(5):596-601. PubMed ID: 9150724
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
