Citations for
1DEL15QD, IGF1R
IGF1R variants associated with isolated single suture craniosynostosis.
Cunningham ML, Horst JA, Rieder MJ, Hing AV, Stanaway IB, Park SS, Samudrala R, Speltz ML.
Am J Med Genet A 155(1):91-7. doi: 10.1002/ajmg.a.33781.PMID: 21204214 2011
2DEL15QD, NR2F2
5.78 Mb terminal deletion of chromosome 15q in a girl, evaluation of NR2F2 as candidate gene for congenital heart defects.
Nakamura E, Makita Y, Okamoto T, Nagaya K, Hayashi T, Sugimoto M, Manabe H, Taketazu G, Kajino H, Fujieda K.
Eur J Med Genet 54(3):354-6. Epub 2010 Dec 21. 2011
3DEL15QD, DEL22Q11D, SRSX
Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients.
Bruce S, Hannula-Jouppi K, Puoskari M, Fransson I, Simola KO, Lipsanen-Nyman M, Kere J.
J Med Genet Med Genet. 2010 Sep 12. [Epub ahead of print]PMID: 19752157 2010
4DEL13QD, 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
5DEL15QD, DIH1
Kidney abnormalities in persons with monosomy 15q26.
Lurie IW.
Am J Med Genet A 146A(13):1761-4. Review. No abstract available. 2008
6DEL15QD, IGF1R
Drayer's syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2-->qter).
Rump P, Dijkhuizen T, Sikkema-Raddatz B, Lemmink HH, Vos YJ, Verheij JB, van Ravenswaaij CM.
Clin Genet 74(5):455-62. Epub 2008 Jul 21. 2008
7DEL15QD, IGF1R
Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2->qter deletion detected by multiplex ligation probe amplification.
Walenkamp MJ, de Muinck Keizer-Schrama SM, de Mos M, Kalf ME, van Duyvenvoorde HA, Boot AM, Kant SG, White SJ, Losekoot M, Den Dunnen JT, Karperien M, Wit JM.
J Clin Endocrinol Metab 93(6):2421-5. Epub 2008 Mar 18. 2008
8DEL15QD
De novo subtelomeric deletion of 15q associated with satellite translocation in a child with developmental delay and severe growth retardation.
Rujirabanjerd S, Suwannarat W, Sripo T, Dissaneevate P, Permsirivanich W, Limprasert P.
Am J Med Genet A 143(3):271-6. 2007
9DIH1, DEL15QD
Prenatal detection and outcome of congenital diaphragmatic hernia (CDH) associated with deletion of chromosome 15q26: two patients and review of the literature.
Klaassens M, Galjaard RJ, Scott DA, Bruggenwirth HT, van Opstal D, Fox MV, Higgins RR, Cohen-Overbeek TE, Schoonderwaldt EM, Lee B, Tibboel D, de Klein A.
Am J Med Genet A 143(18):2204-12. 2007
10RG15, DEL15QD
Ring chromosome 15: characterization by array CGH.
Glass IA, Rauen KA, Chen E, Parkes J, Alberston DG, Pinkel D, Cotter PD.
Hum Genet 118(5):611-7. Epub 2005 Nov 3. 2006
11DIH1, DEL15QD
Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization.
Klaassens M, van Dooren M, Eussen HJ, Douben H, den Dekker AT, Lee C, Donahoe PK, Galjaard RJ, Goemaere N, de Krijger RR, Wouters C, Wauters J, Oostra BA, Tibboel D, de Klein A.
Am J Hum Genet 76(5):877-82. Epub 2005 Mar 4. 2005
12DEL15QD
Detection of an unexpected subtelomeric 15q26.2 --> qter deletion in a little girl: clinical and cytogenetic studies.
Pinson L, Perrin A, Plouzennec C, Parent P, Metz C, Collet M, Le Bris MJ, Douet-Guilbert N, Morel F, De Braekeleer M.
Am J Med Genet A 138(2):160-5. Review. 2005
13DEL15QD
Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients.
Tumer Z, Harboe TL, Blennow E, Kalscheuer VM, Tommerup N, Brondum-Nielsen K.
Am J Med Genet A 130(4):340-4. 2004
14IGF1R, DEL15QD, DUP15QD
Cell proliferation activities on skin fibroblasts from a short child with absence of one copy of the type 1 insulin-like growth factor receptor (IGF1R) gene and a tall child with three copies of the IGF1R gene.
Okubo Y, Siddle K, Firth H, O'Rahilly S, Wilson LC, Willatt L, Fukushima T, Takahashi S, Petry CJ, Saukkonen T, Stanhope R, Dunger DB.
J Clin Endocrinol Metab 88(12):5981-8. 2003
15IGF1R, DEL15QD
IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation.
Abuzzahab MJ, Schneider A, Goddard A, Grigorescu F, Lautier C, Keller E, Kiess W, Klammt J, Kratzsch J, Osgood D, Pfaffle R, Raile K, Seidel B, Smith RJ, Chernausek SD; Intrauterine Growth Retardation (IUGR) Study Group.
N Engl J Med 349(23):2211-22. 2003
16SRS7, SRS17, SRSX, DEL15QD, IGF1R
Lack of hemizygosity for the insulin-like growth factor I receptor gene in a quantitative study of 33 Silver Russell syndrome probands and their families.
Abu-Amero S, Price S, Wakeling E, Stanier P, Trembath R, Preece MA, Moore GE.
Eur J Hum Genet 5(4):235-41. 1997
17DEL15QD
Distinct 15q genotypes in Russell-Silver and ring 15 syndromes.
Rogan PK, Seip JR, Driscoll DJ, Papenhausen PR, Johnson VP, Raskin S, Woodward AL, Butler MG.
Am J Med Genet 62(1):10-5. 1996
18DEL15QD
Hemizygosity at the insulin-like growth factor I receptor (IGF1R) locus and growth failure in the ring chromosome 15 syndrome.
Peoples R, Milatovich A, Francke U.
Cytogenet Cell Genet 70(3-4):228-34. 1995
19DEL15QD, IGF1R
An infant with deletion of the distal long arm of chromosome 15 (q26.1----qter) and loss of insulin-like growth factor 1 receptor gene.
Roback EW, Barakat AJ, Dev VG, Mbikay M, Chretien M, Butler MG.
Am J Med Genet 38(1):74-9. 1991
20DEL15QD
Phenotypic delineation of ring chromosome 15 and Russell-Silver syndromes.
Wilson GN, Sauder SE, Bush M, Beitins IZ.
J Med Genet 22(3):233-6. 1985