Citations for
1CENPL, DEL1QM, DNM
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 Jr.
Am J Med Genet A 155(6):1336-51. doi: 10.1002/ajmg.a.34049. Epub 2011 May 5. 2011
2DEL1QM
De novo deletion of 1q24.3-q31.2 in a patient with severe growth retardation.
Nishimura A, Hiraki Y, Shimoda H, Nishimura G, Tadaki H, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N.
Am J Med Genet A 152A(5):1322-5. No abstract available. PMID: 20425845 2010
3BOS2, DEL1QM
Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1.
Thienpont B, Dimitriadou E, Theodoropoulos K, Breckpot J, Fryssira H, Kitsiou-Tzeli S, Tzoufi M, Vermeesch JR, Syrrou M, Devriendt K.
Eur J Med Genet 52(6):393-7. Epub 2009 Sep 17.PMID: 19772953 2009
4DEL1QM
A novel 1.4 Mb de novo microdeletion of chromosome 1q21.3 in a child with microcephaly, dysmorphic features and mental retardation.
Reddy S, Dolzhanskaya N, Krogh J, Velinov M.
Eur J Med Genet 52(6):443-5. Epub 2009 Sep 20.PMID: 19772933 2009
5ALX4, DEL1QM
Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities.
Descartes M, Hain JZ, Conklin M, Franklin J, Mikhail FM, Lachman RS, Nolet S, Messiaen LM.
Am J Med Genet A 146A(22):2937-43. 2008
6DEL1QM
Prenatal diagnosis and molecular characterization of an interstitial 1q24.2q25.2 deletion.
Chaabouni M, Martinovic J, Sanlaville D, Attie-Bittach T, Caillat S, Turleau C, Vekemans M, Morichon N.
Eur J Med Genet 49(6):487-93. Epub 2006 Apr 25. Review. 2006
7DEL1QM
Interstitial 1q25.3-q31.3 deletion in a boy with mild manifestations.
Hšglund P, Jalkanen R, Marttinen E, Alitalo T.
Am J Med Genet A 123(3):290-5. 2003
8DEL1QM
A patient defines the interstitial 1q deletion syndrome characterized by antithrombin III deficiency.
Pallotta R, Dalprˆ L, Miozzo M, Ehresmann T, Fusilli P.
Am J Med Genet 104(4):282-6. 2001
9DEL1QM
Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1.
Melis D, Perone L, Sperandeo MP, Sabbatino MS, Tuzzi MR, Romano A, Parenti G, Andria G.
J Med Genet 35(12):1047-9. 1998
10APOA2, AT3, DEL1QM, F5TPH, SERPINC1
Interstitial deletion of chromosome 1q [del(1)(q24q25.3)] identified by fluorescence in situ hybridization and gene dosage analysis of apolipoprotein A-II, coagulation factor V, and antithrombin III.
Takano T, Yamanouchi Y, Mori Y, Kudo S, Nakayama T, Sugiura M, Hashira S, Abe T.
Am J Med Genet 68(2):207-10. 1997
11DEL1QM
Multiple craniofacial anomalies associated with an interstitial deletion of chromosome 1(q21->q25).
Leichtman LG, Strum D, Brothman AR.
Am J Med Genet 45(6):677-8. 1993
12DEL1QM
Proximal deletion of the long arm of chromosome 1: [del(1)(q23-q25)]
Lo LJ, Noordhoff MS, Huang CS, Chen KT, Chen YR.
Cleft Palate Craniofac J 30(6):586-9. 1993
13DEL1QM
Molecular characterization of a patient with del(1)(q23-q25).
Franco B, Lai LW, Patterson D, Ledbetter DH, Trask BJ, van den Engh G, Iannaccone S, Frances S, Patel PI, Lupski JR.
Hum Genet 87(3):269-77. 1991
14DEL1QM
Two cases of interstitial deletion of the long arm of chromosome 1: del(1)(q21----q25) and del(1)(q41----q43).
Beemer FA, Klep-de Pater JM, Sepers GJ, Janssen B.
Clin Genet 27(5):515-9. 1985
15DEL1QM
Interstitial deletion of chromosome 1 (q23-q25). Report of a case.
Silengo MC, Davi GF, Bianco R, Biagioli M, Guala A, Franceschini P, Novelli G.
Clin Genet 25(6):549-52. 1984
16DEL1QM
A new syndrome of proximal deletion of the long arm of chromosome 1: 1q21-23 leads to 1q25.
Taysi K, Sekhon GS, Hillman RE.
Am J Med Genet 13(4):423-30. No abstract available. 1982
17DEL1QM
Interstitial deletion of the long arm of chromosome 1, del(1)(q21 leads to q25) in a profoundly retarded 8-year-old girl with multiple anomalies.
Schinzel A, Schmid W.
Clin Genet 18(4):305-13. 1980
18DEL1QM
[De novo interstitial deletion Del (1) (q24 q32.1) in a malformed child]
Turleau C, Roubin M, Chavin-Colin F, Satge M, de Grouchy J.
Ann Genet 17(4):291-4. French. No abstract available. 1974