1 | CENPL, 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
|
2 | DEL1QM
|
| 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
|
3 | BOS2, 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
|
4 | DEL1QM
|
| 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
|
5 | ALX4, 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
|
6 | DEL1QM
|
| 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
|
7 | DEL1QM
|
| 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
|
8 | DEL1QM
|
| 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
|
9 | DEL1QM
|
| 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
|
10 | APOA2, 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
|
11 | DEL1QM
|
| 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
|
12 | DEL1QM
|
| 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
|
13 | DEL1QM
|
| 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
|
14 | DEL1QM
|
| 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
|
15 | DEL1QM
|
| 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
|
16 | DEL1QM
|
| 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
|
17 | DEL1QM
|
| 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
|
18 | DEL1QM
|
| [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
|