Citations for
1DEL14QD
A phenotype map for 14q32.3 terminal deletions.
Engels H, Schüler HM, Zink AM, Wohlleber E, Brockschmidt A, Hoischen A, Drechsler M, Lee JA, Ludwig KU, Kubisch C, Schwanitz G, Weber RG, Leube B, Hennekam RC, Rudnik-Schöneborn S, Kreiß-Nachtsheim M, Reutter H.
Am J Med Genet A 158A(4):695-706. doi: 10.1002/ajmg.a.35256. Epub 2012 Feb 24. 2012
2DEL14QD, DEL14QM
Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects.
Cingöz S, Bache I, Bjerglund L, Ropers HH, Tommerup N, Jensen H, Brĝndum-Nielsen K, Tümer Z.
Am J Med Genet A 155(1):203-6. doi: 10.1002/ajmg.a.33766.PMID: 21204233 2011
3DEL14QD, RG14
A child with terminal 14q deletion syndrome: consideration of genotype-phenotype correlations.
Schlade-Bartusiak K, Ardinger H, Cox DW.
Am J Med Genet A 149A(5):1012-8. 2009
4DEL14QD, DEL14QP, FOXG1, RG14, RPGRIP1
The ring 14 syndrome: clinical and molecular definition.
Zollino M, Seminara L, Orteschi D, Gobbi G, Giovannini S, Della Giustina E, Frattini D, Scarano A, Neri G.
Am J Med Genet A 149A(6):1116-24. 2009
5DEL13QD, DEL14QD, DEL15QD, DEL18QD, DEL22QD, RG14, RG20
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation.
Rossi E, Riegel M, Messa J, Gimelli S, Maraschio P, Ciccone R, Stroppi M, Riva P, Perrotta CS, Mattina T, Memo L, Baumer A, Kucinskas V, Castellan C, Schinzel A, Zuffardi O.
J Med Genet 45(3):147-54. Epub 2007 Nov 15. 2008
6DEL14QD
Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia.
Schneider A, Benzacken B, Guichet A, Verloes A, Bonneau D, Collot N, Dastot-Le-Moal F, Goossens M, Taine L, Landais E, Gaillard D, Doco-Fenzy M.
Eur J Hum Genet 16(6):680-7. Epub 2008 Jan 16. 2008
7DEL14QD, DUP14QD, RG14
Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion.
Knijnenburg J, van Haeringen A, Hansson KB, Lankester A, Smit MJ, Belfroid RD, Bakker E, Rosenberg C, Tanke HJ, Szuhai K.
Eur J Hum Genet 15(5):548-55. Epub 2007 Mar 7. 2007
8DEL14QD, RG14
Mosaic trisomy r(14) associated with epilepsy and mental retardation.
Tzoufi M, Kanioglou C, Dasoula A, Asproudis I, Tsatsoulis A, Sismani C, Patsalis PC, Georgiou I, Syrrou M.
J Child Neurol 22(7):869-73. 2007
9DEL14QD
Terminal 14q32.33 deletion: Genotype-phenotype correlation.
Maurin ML, Brisset S, Le Lorc'h M, Poncet V, Trioche P, Aboura A, Labrune P, Tachdjian G.
Am J Med Genet A 140(21):2324-9. 2006
10DEL14QD
14q32.3 deletion syndrome with autism.
Merritt JL 2nd, Jalal SM, Barbaresi WJ, Babovic-Vuksanovic D.
Am J Med Genet A 133(1):99-100. No abstract available. 2005
11DEL14QD, RG14
FISH-mapping of telomeric 14q32 deletions: search for the cause of seizures.
Schlade-Bartusiak K, Costa T, Summers AM, Nowaczyk MJ, Cox DW.
Am J Med Genet A 138(3):218-24. 2005
12DEL14QD, DUP14QD
A paternally derived inverted duplication of distal 14q with a terminal 14q deletion.
Chen CP, Chern SR, Lin SP, Lin CC, Li YC, Wang TH, Lee CC, Pan CW, Hsieh LJ, Wang W.
Am J Med Genet A 139(2):146-50. 2005
13DEL14QD, DUP13QD
Striking facial dysmorphisms and restricted thymic development in a fetus with a 6-megabase deletion of chromosome 14q.
de Pater JM, Nikkels PG, Poot M, Eleveld MJ, Stigter RH, van der Sijs-Bos CJ, Loneus WH, Engelen JJ.
Pediatr Dev Pathol 8(4):497-503. Epub 2005 Oct 12. 2005
14DEL14QD
Mosaic monosomy 14: clinical features and recognizable facies.
McConnell V, Derham R, McManus D, Morrison PJ.
Clin Dysmorphol 13(3):155-60. 2004
15DEL14QD
Further delineation of the chromosome 14q terminal deletion syndrome.
van Karnebeek CD, Quik S, Sluijter S, Hulsbeek MM, Hoovers JM, Hennekam RC.
Am J Med Genet 110(1):65-72. Review. 2002
16DEL14QD
Submicroscopic deletion in 14q32.3 through a de novo tandem translocation between 14q and 21p.
Meschede D, Exeler R, Wittwer B, Horst J.
Am J Med Genet 80(5):443-7. 1998
17DEL14QD
Delineation of 14q32.3 deletion syndrome.
Ortigas AP, Stein CK, Thomson LL, Hoo JJ.
J Med Genet 34(6):515-7. 1997
18R14, DEL14QD
Molecular analysis redefines three human chromosome 14 deletions.
Wintle RF, Costa T, Haslam RH, Teshima IE, Cox DW.
Hum Genet 95(5):495-500. 1995
19DEL14QD
Terminal deletion (14)(q32.3): a new case.
Telford N, Thomson DA, Griffiths MJ, Ilett S, Watt JL.
J Med Genet 27(4):261-3. Review. 1990
20DEL14QD, RG14
Distal monosomy 14 not associated with ring formation.
Hreidarsson SJ, Stamberg J.
J Med Genet 20(2):147-9. 1983