225 related articles for article (PubMed ID: 18536049)
1. Delineation of the proximal 3q microdeletion syndrome.
Simovich MJ; Bland SD; Peiffer DA; Gunderson KL; Cheung SW; Yatsenko SA; Shinawi M
Am J Med Genet A; 2008 Jul; 146A(13):1729-35. PubMed ID: 18536049
[TBL] [Abstract][Full Text] [Related]
2. Wisconsin syndrome in a patient with interstitial deletion of the long arm of chromosome 3: further delineation of the phenotype.
Ko WT; Lam WF; Lo FM; Chan WK; Lam TS
Am J Med Genet A; 2003 Jul; 120A(3):413-7. PubMed ID: 12838565
[TBL] [Abstract][Full Text] [Related]
3. Proximal interstitial 1p36 deletion syndrome: the most proximal 3.5-Mb microdeletion identified on a dysmorphic and mentally retarded patient with inv(3)(p14.1q26.2).
Shimojima K; Páez MT; Kurosawa K; Yamamoto T
Brain Dev; 2009 Sep; 31(8):629-33. PubMed ID: 18835671
[TBL] [Abstract][Full Text] [Related]
4. Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization.
Shieh JT; Aradhya S; Novelli A; Manning MA; Cherry AM; Brumblay J; Salpietro CD; Bernardini L; Dallapiccola B; Hoyme HE
Am J Med Genet A; 2006 Jun; 140(12):1267-73. PubMed ID: 16691576
[TBL] [Abstract][Full Text] [Related]
5. Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: a brief review.
Stockton DW; Ross HL; Bacino CA; Altman CA; Shaffer LG; Lupski JR
Am J Med Genet; 1997 Aug; 71(2):189-93. PubMed ID: 9217220
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25.1-q25.32: Genotype-phenotype correlations of chromosome 3q25 deletion syndrome.
Moortgat S; Verellen-Dumoulin C; Maystadt I; Parmentier B; Grisart B; Hennecker JL; Destree A
Eur J Med Genet; 2011; 54(2):177-80. PubMed ID: 21167329
[TBL] [Abstract][Full Text] [Related]
8. Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.
Descipio C; Schneider L; Young TL; Wasserman N; Yaeger D; Lu F; Wheeler PG; Williams MS; Bason L; Jukofsky L; Menon A; Geschwindt R; Chudley AE; Saraiva J; Schinzel AA; Guichet A; Dobyns WE; Toutain A; Spinner NB; Krantz ID
Am J Med Genet A; 2005 Apr; 134A(1):3-11. PubMed ID: 15704124
[TBL] [Abstract][Full Text] [Related]
9. An emerging phenotype of proximal 11q deletions.
Melis D; Genesio R; Cozzolino M; Del Giudice E; Mormile A; Imperati F; Ronga V; Della Casa R; Nitsch L; Andria G
Eur J Med Genet; 2010; 53(5):340-3. PubMed ID: 20688202
[TBL] [Abstract][Full Text] [Related]
10. Microdeletion on 3p25 in a patient with features of 3p deletion syndrome.
Peltekova IT; Macdonald A; Armour CM
Am J Med Genet A; 2012 Oct; 158A(10):2583-6. PubMed ID: 22903836
[TBL] [Abstract][Full Text] [Related]
11. Novel case of dup(3q) syndrome due to a de novo interstitial duplication 3q24-q26.31 with minimal overlap to the dup(3q) critical region.
Meins M; Hagh JK; Gerresheim F; Einhoff E; Olschewski H; Strehl H; Epplen JT
Am J Med Genet A; 2005 Jan; 132A(1):84-9. PubMed ID: 15551338
[TBL] [Abstract][Full Text] [Related]
12. The smallest de novo deletion of 20q11.21-q11.23 in a girl with feeding problems, retinal dysplasia, and skeletal abnormalities.
Posmyk R; Leśniewicz R; Gogiel M; Chorąży M; Bakunowicz-Łazarczyk A; Sielicka D; Vermeesch J; Nowakowska BA
Am J Med Genet A; 2014 Apr; 164A(4):1056-61. PubMed ID: 24459047
[TBL] [Abstract][Full Text] [Related]
13. A patient with 9q subtelomeric deletion syndrome with additional findings.
Tug E; Cavdarli B; Karaoguz MY; Percin FE
Genet Couns; 2012; 23(4):465-71. PubMed ID: 23431745
[TBL] [Abstract][Full Text] [Related]
14. Patient with terminal duplication 3q and terminal deletion 5q: comparison with the 3q duplication syndrome and distal 5q deletion syndrome.
Angle B; Yen F; Hersh JH; Gowans G
Am J Med Genet A; 2003 Feb; 116A(4):376-80. PubMed ID: 12522795
[TBL] [Abstract][Full Text] [Related]
15. The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature.
Torgyekes E; Shanske AL; Anyane-Yeboa K; Nahum O; Pirzadeh S; Blumfield E; Jobanputra V; Warburton D; Levy B
Am J Med Genet A; 2011 Aug; 155A(8):1884-96. PubMed ID: 21744488
[TBL] [Abstract][Full Text] [Related]
16. Siblings with phenotypic overlap with Toriello-Carey syndrome and complex cytogenetic imbalances including 3q29 microduplication and 6p25 microdeletion: Review of the literature and additional evidence for genetic heterogeneity.
McGoey R; Varma A; Lacassie Y
Am J Med Genet A; 2010 Dec; 152A(12):3068-73. PubMed ID: 21108391
[TBL] [Abstract][Full Text] [Related]
17. Brown syndrome associated with velocardiofacial syndrome.
Chang S; Crowe CA; Traboulsi EI
J AAPOS; 2004 Jun; 8(3):290-2. PubMed ID: 15226737
[TBL] [Abstract][Full Text] [Related]
18. Female patient with autistic disorder, intellectual disability, and co-morbid anxiety disorder: Expanding the phenotype associated with the recurrent 3q13.2-q13.31 microdeletion.
Quintela I; Gomez-Guerrero L; Fernandez-Prieto M; Resches M; Barros F; Carracedo A
Am J Med Genet A; 2015 Dec; 167A(12):3121-9. PubMed ID: 26332054
[TBL] [Abstract][Full Text] [Related]
19. A girl with inverted triplication of chromosome 3q25.3 --> q29 and multiple congenital anomalies consistent with 3q duplication syndrome.
Ounap K; Ilus T; Bartsch O
Am J Med Genet A; 2005 May; 134(4):434-8. PubMed ID: 15793836
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
