Multiplex ligation-dependent probe amplification enhances molecular diagnosis of Diamond-Blackfan anemia due to RPS19 deficiency

被引：12

作者：

Quarello, Paola ^{[1
]}

Garelli, Emanuela ^{[1
]}

Brusco, Alfredo ^{[2
]}

Carando, Adriana ^{[1
]}

Pappi, Patrizia ^{[2
]}

Barberis, Marco ^{[2
]}

Coletti, Valentina ^{[3
]}

Campagnoli, Maria Francesca ^{[1
]}

Dianzani, Irma ^{[4
]}

Ramenghi, Ugo ^{[1
]}

机构：

[1] Univ Turin, Dept Pediat, Hematol Unit, I-10126 Turin, Italy

[2] Univ Turin, Dept Genet Biol & Biochem, I-10126 Turin, Italy

[3] Bambino Gesu Pediat Hosp, Dept Hematol, Rome, Italy

[4] Univ Piemonte Orientale, Dept Med Sci, Novara, Italy

来源：

HAEMATOLOGICA-THE HEMATOLOGY JOURNAL | 2008年 / 93卷 / 11期

关键词：

Diamond-Blackfan anemia; RPS19; deletion; MLPA;

D O I：

10.3324/haematol.13423

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：1748 / 1750

页数：3

共 12 条

[1]

[Anonymous], Leiden Open Variation Database

[2] RPS19 mutations in patients with Diamond-Blackfan anemia [J].

Campagnoli, Maria Francesca ;

Ramenghi, Ugo ;

Armiraglio, Marta ;

Quarello, Paola ;

Garelli, Emanuela ;

Carando, Adriana ;

Avondo, Federica ;

Pavesi, Elisa ;

Fribourg, Sebastien ;

Gleizes, Pierre-Emmanuel ;

Loreni, Fabrizio ;

Dianzani, Irma .

HUMAN MUTATION, 2008, 29 (07) :911-920

[3]

Campagnoli MF, 2004, HAEMATOLOGICA, V89, P480

[4]

Cavalieri Simona, 2006, Hum Mutat, V27, P1061, DOI 10.1002/humu.9454

[5] Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia [J].

Cmejla, Radek ;

Cmejlova, Jana ;

Handrkova, Helena ;

Petrak, Jiri ;

Pospisilova, Dagmar .

HUMAN MUTATION, 2007, 28 (12) :1178-1182

[6] The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia [J].

Draptchinskaia, N ;

Gustavsson, P ;

Andersson, B ;

Pettersson, M ;

Willig, TN ;

Dianzani, I ;

Ball, S ;

Tchernia, G ;

Klar, J ;

Matsson, H ;

Tentler, D ;

Mohandas, N ;

Carlsson, B ;

Dahl, N .

NATURE GENETICS, 1999, 21 (02) :169-175

[7] Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease [J].

Gazda, H ;

Lipton, JM ;

Willig, TN ;

Ball, S ;

Niemeyer, CM ;

Tchernia, G ;

Mohandas, N ;

Daly, MJ ;

Ploszynska, A ;

Orfali, KA ;

Vlachos, A ;

Glader, BE ;

Rokicka-Milewska, R ;

Ohara, A ;

Baker, D ;

Pospisilova, D ;

Webber, A ;

Viskochil, DH ;

Nathan, DG ;

Beggs, AH ;

Sieff, CA .

BLOOD, 2001, 97 (07) :2145-2150

[8] Ribosomal protein S24 gene is mutated in diamond-blackfan anemia [J].

Gazda, Hanna T. ;

Grabowska, Agnieszka ;

Merida-Long, Lilia B. ;

Latawiec, Elzbieta ;

Schneider, Hal E. ;

Lipton, Jeffrey M. ;

Vlachos, Adrianna ;

Atsidaftos, Eva ;

Ball, Sarah E. ;

Orfali, Karen A. ;

Niewiadomska, Edyta ;

Da Costa, Lydie ;

Tchernia, Gil ;

Niemeyer, Charlotte ;

Meerpohl, Joerg J. ;

Stahl, Joachim ;

Schratt, Gerhard ;

Glader, Bertil ;

Backer, Karen ;

Wong, Carolyn ;

Nathan, David G. ;

Beggs, Alan H. ;

Sieff, Colin A. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2006, 79 (06) :1110-1118

[9] Improving clinical care and elucidating the pathophysiology of diamond Blackfan anemia: An update from the Diamond Blackfan anemia registry [J].

Lipton, JM ;

Atsidaftos, E ;

Zyskind, I ;

Vlachos, A .

PEDIATRIC BLOOD & CANCER, 2006, 46 (05) :558-564

[10] Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity [J].

Orfali, KA ;

Ohene-Abuakwa, Y ;

Ball, SE .

BRITISH JOURNAL OF HAEMATOLOGY, 2004, 125 (02) :243-252

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