Citations for
1ATR16
Phenotype-genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3.
Gibson WT, Harvard C, Qiao Y, Somerville MJ, Lewis ME, Rajcan-Separovic E.
Am J Med Genet A 146A(2):225-32. 2008
2ATR16
Refinement of the genetic cause of ATR-16.
Harteveld CL, Kriek M, Bijlsma EK, Erjavec Z, Balak D, Phylipsen M, Voskamp A, Capua E, White SJ, Giordano PC.
Hum Genet 122(3-4):283-92. Epub 2007 Jun 28. 2007
3ATR16
ATR-16 due to a de novo complex rearrangement of chromosome 16.
Gallego MS, Zelaya G, Feliu AS, Rossetti L, Shaffer LG, Bailey KA, Bacino CA, Barreiro CZ.
Hemoglobin 29(2):141-50. 2005
4ATRX,ATR16
A woman with 46,XX,dup(16)(p13.11 p13.3) and the ATR-X phenotype.
Akahoshi K, Ohashi H, Hattori Y, Saitoh S, Fukushima Y, Wada T.
Am J Med Genet A 132(4):414-8. 2005
5ATR16, CRAMP1L, DDX11L1, DECR2, GNG13, HAGHL, HBAP1, HBM, HN1L, HS3ST6, IFT140, IGFALS, ITFG3, JMJD8, LMF1, LUC7L, MEIOB, MRPL28, MSLNL, NARFL, POLR3K, RAB40C, RHBDL1, RPL23AP5, RPS20P2, RPS3AP2, RPUSD1, SEPX1, SPSB3, TJP1P, TMEM8, TPSB2, TPSD1, TPSG1, TPSP1, TPSP3, UNKL, WFIKKN1, ZSIG37P
Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16.
Daniels RJ, Peden JF, Lloyd C, Horsley SW, Clark K, Tufarelli C, Kearney L, Buckle VJ, Doggett NA, Flint J, Higgs DR.
Hum Mol Genet 10(4):339-52. 2001
6ATR16, C16orf43, DEL16PT
Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects.
Horsley SW, Daniels RJ, Anguita E, Raynham HA, Peden JF, Villegas A, Vickers MA, Green S, Waye JS, Chui DH, Ayyub H, MacCarthy AB, Buckle VJ, Gibbons RJ, Kearney L, Higgs DR.
Eur J Hum Genet 9(3):217-25. 2001
7ATR16
Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3).
Holinski-Feder E, Reyniers E, Uhrig S, Golla A, Wauters J, Kroisel P, Bossuyt P, Rost I, Jedele K, Zierler H, Schwab S, Wildenauer D, Speicher MR, Willems PJ, Meitinger T, Kooy RF.
Am J Hum Genet 66(1):16-25. 2000
8ATR16, SOX8
The SOX8 gene is located within 700 kb of the tip of chromosome 16p and is deleted in a patient with ATR-16 syndrome.
Pfeifer D, Poulat F, Holinski-Feder E, Kooy F, Scherer G.
Genomics 63(1):108-16. 2000
9ATR16
De novo 16p deletion: ATR-16 syndrome.
Lindor NM, Valdes MG, Wick M, Thibodeau SN, Jalal S.
Am J Med Genet 72(4):451-4. 1997
10ATRX,ATR16
The alpha-thalassemia/mental retardation syndromes.
Gibbons RJ, Higgs DR.
Medicine (Baltimore) 75(2):45-52. Review. 1996
11ATR16
De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16).
Lamb J, Harris PC, Wilkie AO, Wood WG, Dauwerse JG, Higgs DR.
Am J Hum Genet 52(4):668-76. 1993
12ATR16, HB-A@, HBA1, HBA2
Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I- Cases due to deletions involving chromosome band 16p13.3.
Wilkie AOM, et al.
Am J Hum Genet 46 : 1112-1126. 1990
13ATR16
A truncated human chromosome 16 associated with alpha thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n.
Wilkie AOM, et al.
Nature 346 : 868-871. 1990
14ATR16
Hemoglobin H disease and mental retardation. A new syndrome or a remarkable coincidence?
Weatherall DJ, Higgs DR, Bunch C, Old JM, Hunt DM, Pressley L, Clegg JB, Bethlenfalvay NC, Sjolin S, Koler RD, Magenis E, Francis JL, Bebbington D.
N Engl J Med 305 : 607-612. 1981