-
3
-
-
41949110058
-
Segmental duplications involving the alpha-globin gene cluster are causing beta-thalassemia intermedia phenotypes in beta-thalassemia heterozygous patients
-
M-J
-
Harteveld C.L., Refaldi C., Cassinerio E., Cappellini M.D., Giordano P.C. Segmental duplications involving the alpha-globin gene cluster are causing beta-thalassemia intermedia phenotypes in beta-thalassemia heterozygous patients. Blood Cells Mol. Dis. May-Jun 2008, 40(3):312-316.
-
(2008)
Blood Cells Mol. Dis.
, vol.40
, Issue.3
, pp. 312-316
-
-
Harteveld, C.L.1
Refaldi, C.2
Cassinerio, E.3
Cappellini, M.D.4
Giordano, P.C.5
-
4
-
-
68049085575
-
Molecular characterization of thalassemia intermedia, due to co-inheritance of homozygous alpha triplication and IVSI-5 beta-thalassemia
-
S-O
-
Fallah M.S., Zadeh-Vakili A., Aleyasin S.A., Mahdian R., Karimipour M., Raeisi M., et al. Molecular characterization of thalassemia intermedia, due to co-inheritance of homozygous alpha triplication and IVSI-5 beta-thalassemia. Blood Cells Mol. Dis. Sep-Oct 2009, 43(2):158-160.
-
(2009)
Blood Cells Mol. Dis.
, vol.43
, Issue.2
, pp. 158-160
-
-
Fallah, M.S.1
Zadeh-Vakili, A.2
Aleyasin, S.A.3
Mahdian, R.4
Karimipour, M.5
Raeisi, M.6
-
5
-
-
70349637640
-
Association of alpha globin gene quadruplication and heterozygous beta thalassemia in patients with thalassemia intermedia
-
Sollaino M.C., Paglietti M.E., Perseu L., Giagu N., Loi D., Galanello R. Association of alpha globin gene quadruplication and heterozygous beta thalassemia in patients with thalassemia intermedia. Haematologica Oct 2009, 94(10):1445-1448.
-
(2009)
Haematologica
, vol.94
, Issue.10 OCTOBER
, pp. 1445-1448
-
-
Sollaino, M.C.1
Paglietti, M.E.2
Perseu, L.3
Giagu, N.4
Loi, D.5
Galanello, R.6
-
6
-
-
0030326627
-
Detection of alpha-globin gene disorders by a simple PCR methodology
-
S-O
-
Foglietta E., Deidda G., Graziani B., Modiano G., Bianco I. Detection of alpha-globin gene disorders by a simple PCR methodology. Haematologica Sep-Oct 1996, 81(5):387-396.
-
(1996)
Haematologica
, vol.81
, Issue.5
, pp. 387-396
-
-
Foglietta, E.1
Deidda, G.2
Graziani, B.3
Modiano, G.4
Bianco, I.5
-
7
-
-
0034091983
-
Rapid detection of alpha-thalassaemia deletions and alpha-globin gene triplication by multiplex polymerase chain reactions
-
Liu Y.T., Old J.M., Miles K., Fisher C.A., Weatherall D.J., Clegg J.B. Rapid detection of alpha-thalassaemia deletions and alpha-globin gene triplication by multiplex polymerase chain reactions. Br. J. Haematol. Feb 2000, 108(2):295-299.
-
(2000)
Br. J. Haematol.
, vol.108
, Issue.2 FEBRUARY
, pp. 295-299
-
-
Liu, Y.T.1
Old, J.M.2
Miles, K.3
Fisher, C.A.4
Weatherall, D.J.5
Clegg, J.B.6
-
8
-
-
0242330213
-
Rapid detection of six common Mediterranean and three non-Mediterranean alpha-thalassemia point mutations by reverse dot blot analysis
-
Foglietta E., Bianco I., Maggio A., Giambona A. Rapid detection of six common Mediterranean and three non-Mediterranean alpha-thalassemia point mutations by reverse dot blot analysis. Am. J. Hematol. Nov 2003, 74(3):191-195.
-
(2003)
Am. J. Hematol.
, vol.74
, Issue.3 NOVEMBER
, pp. 191-195
-
-
Foglietta, E.1
Bianco, I.2
Maggio, A.3
Giambona, A.4
-
9
-
-
34248219090
-
Validation of a reverse-hybridization StripAssay for the simultaneous analysis of common alpha-thalassemia point mutations and deletions
-
Puehringer H., Najmabadi H., Law H.Y., Krugluger W., Viprakasit V., Pissard S., et al. Validation of a reverse-hybridization StripAssay for the simultaneous analysis of common alpha-thalassemia point mutations and deletions. Clin. Chem. Lab. Med. 2007, 45(5):605-610.
-
(2007)
Clin. Chem. Lab. Med.
, vol.45
, Issue.5
, pp. 605-610
-
-
Puehringer, H.1
Najmabadi, H.2
Law, H.Y.3
Krugluger, W.4
Viprakasit, V.5
Pissard, S.6
-
10
-
-
33846994420
-
Screening and genetic diagnosis of haemoglobinopathies
-
Old J.M. Screening and genetic diagnosis of haemoglobinopathies. Scand J. Clin. Lab. Invest. 2007, 67(1):71-86.
-
(2007)
Scand J. Clin. Lab. Invest.
, vol.67
, Issue.1
, pp. 71-86
-
-
Old, J.M.1
-
11
-
-
29144480573
-
Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification
-
Harteveld C.L., Voskamp A., Phylipsen M., Akkermans N., den Dunnen J.T., White S.J., Giordano P.C. Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification. J. Med. Genet. Dec 2005, 42(12):922-931.
-
(2005)
J. Med. Genet.
, vol.42
, Issue.12 DECEMBER
, pp. 922-931
-
-
Harteveld, C.L.1
Voskamp, A.2
Phylipsen, M.3
Akkermans, N.4
den Dunnen, J.T.5
White, S.J.6
Giordano, P.C.7
-
12
-
-
57449093435
-
Detection of alpha-thalassemia in China by using multiplex ligation-dependent probe amplification
-
Liu J.Z., Han H., Schouten J.P., Wang L.R., Fan X.P., Duarte H.B., et al. Detection of alpha-thalassemia in China by using multiplex ligation-dependent probe amplification. Hemoglobin 2008, 32(6):561-571.
-
(2008)
Hemoglobin
, vol.32
, Issue.6
, pp. 561-571
-
-
Liu, J.Z.1
Han, H.2
Schouten, J.P.3
Wang, L.R.4
Fan, X.P.5
Duarte, H.B.6
-
13
-
-
77953130207
-
Development of a quantitative real-time PCR assay for detection of unknown alpha-globin gene deletions
-
Fallah M.S., Mahdian R., Aleyasin S.A., Jamali S., Hayat-Nosaeid M., Karimipour M., et al. Development of a quantitative real-time PCR assay for detection of unknown alpha-globin gene deletions. Blood Cells Mol. Dis. Jun 15, 2010, 45(1):58-64.
-
(2010)
Blood Cells Mol. Dis.
, vol.45
, Issue.1 JANAURY 15
, pp. 58-64
-
-
Fallah, M.S.1
Mahdian, R.2
Aleyasin, S.A.3
Jamali, S.4
Hayat-Nosaeid, M.5
Karimipour, M.6
-
14
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller S.A., Dykes D.D., Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. Feb 11, 1988, 16(3):1215.
-
(1988)
Nucleic Acids Res.
, vol.16
, Issue.3 FEBRUARY 11
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
15
-
-
33645460312
-
Hematologic and molecular characterization of a Sicilian cohort of alpha thalassemia carriers
-
Guida V., Colosimo A., Fichera M., Lombardo T., Rigoli L., Dalla piccola B. Hematologic and molecular characterization of a Sicilian cohort of alpha thalassemia carriers. Haematologica Mar 2006, 91(3):409-410.
-
(2006)
Haematologica
, vol.91
, Issue.3 MAY
, pp. 409-410
-
-
Guida, V.1
Colosimo, A.2
Fichera, M.3
Lombardo, T.4
Rigoli, L.5
Dalla piccola, B.6
-
16
-
-
20344366588
-
Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA)
-
Gatta V., Scarciolla O., Gaspari A.R., Palka C., De Angelis M.V., Di Muzio A., et al. Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA). Hum. Genet. Jun 2005, 117(1):92-98.
-
(2005)
Hum. Genet.
, vol.117
, Issue.1 JANAURY
, pp. 92-98
-
-
Gatta, V.1
Scarciolla, O.2
Gaspari, A.R.3
Palka, C.4
De Angelis, M.V.5
Di Muzio, A.6
-
17
-
-
33845904380
-
Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay
-
Gatta V., Antonucci I., Morizio E., Palka C., Fischetto R., Mokini V., et al. Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay. J. Hum. Genet. 2007, 52(1):21-27.
-
(2007)
J. Hum. Genet.
, vol.52
, Issue.1
, pp. 21-27
-
-
Gatta, V.1
Antonucci, I.2
Morizio, E.3
Palka, C.4
Fischetto, R.5
Mokini, V.6
-
18
-
-
57149107372
-
Array-based comparative genomic hybridization in early-stage mycosis fungoides; recurrent deletion of tumor suppressor genes BCL7A, SMAC/DIABLO, and RHOF
-
Carbone A., Bernardini L., Valenzano F., Bottillo I., De Simone C., Capizzi R., et al. Array-based comparative genomic hybridization in early-stage mycosis fungoides; recurrent deletion of tumor suppressor genes BCL7A, SMAC/DIABLO, and RHOF. Genes Chromosom. Cancer Dec 2008, 47(12):1067-1075.
-
(2008)
Genes Chromosom. Cancer
, vol.47
, Issue.12 DECEMBER
, pp. 1067-1075
-
-
Carbone, A.1
Bernardini, L.2
Valenzano, F.3
Bottillo, I.4
De Simone, C.5
Capizzi, R.6
-
19
-
-
0035710746
-
Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T))
-
Livak K.J., Schmittgen T.D. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)). Method Dec 2001, 25(4):402-408.
-
(2001)
Method
, vol.25
, Issue.4 DECEMBER
, pp. 402-408
-
-
Livak, K.J.1
Schmittgen, T.D.2
-
20
-
-
76849094444
-
Thalassemia in Western Australia: 11 novel deletions characterized by multiplex ligation-dependent probe amplification
-
Phylipsen M., Prior J.F., Lim E., Lingam N., Vogelaar I.P., Giordano P.C., et al. Thalassemia in Western Australia: 11 novel deletions characterized by multiplex ligation-dependent probe amplification. Blood Cells Mol. Dis. Mar 2010, 44(3):146-151.
-
(2010)
Blood Cells Mol. Dis.
, vol.44
, Issue.3 MAY
, pp. 146-151
-
-
Phylipsen, M.1
Prior, J.F.2
Lim, E.3
Lingam, N.4
Vogelaar, I.P.5
Giordano, P.C.6
-
21
-
-
0031438715
-
Phenotypes of individuals with a beta thal classical allele associated either with a beta thal silent allele or with alpha globin gene triplication
-
S-O
-
Bianco I., Lerone M., Foglietta E., Deidda G., Cappabianca M.P., Morlupi L., et al. Phenotypes of individuals with a beta thal classical allele associated either with a beta thal silent allele or with alpha globin gene triplication. Haematologica Sep-Oct 1997, 82(5):513-525.
-
(1997)
Haematologica
, vol.82
, Issue.5
, pp. 513-525
-
-
Bianco, I.1
Lerone, M.2
Foglietta, E.3
Deidda, G.4
Cappabianca, M.P.5
Morlupi, L.6
-
22
-
-
67449098138
-
Frequency of alpha-globin gene triplications and their interaction with beta-thalassemia mutations
-
Giordano P.C., Bakker-Verwij M., Harteveld C.L. Frequency of alpha-globin gene triplications and their interaction with beta-thalassemia mutations. Hemoglobin 2009, 33(2):124-131.
-
(2009)
Hemoglobin
, vol.33
, Issue.2
, pp. 124-131
-
-
Giordano, P.C.1
Bakker-Verwij, M.2
Harteveld, C.L.3
|