Identification of five novel BOR mutations in human EYA1 gene associated with branchio-oto-renal syndrome by a DHPLC-based assay

被引：8

作者：

Migliosi, V ^{[1
]}

Flex, E ^{[1
]}

Guida, V ^{[1
]}

Martini, A ^{[1
]}

Giarbini, N ^{[1
]}

Markova, T ^{[1
]}

Torrente, I ^{[1
]}

Dallapiccola, B ^{[1
]}

机构：

[1] CSS Mendel Inst, IRCCS CSS, I-00198 Rome, Italy

来源：

CLINICAL GENETICS | 2004年 / 66卷 / 05期

关键词：

D O I：

10.1111/j.1399-0004.2004.00318.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：478 / 480

页数：3

共 28 条

[1] Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1 [J].

Abdelhak, S ;

Kalatzis, V ;

Heilig, R ;

Compain, S ;

Samson, D ;

Vincent, C ;

LeviAcobas, F ;

Cruaud, C ;

LeMerrer, M ;

Mathieu, M ;

Konig, R ;

Vigneron, J ;

Weissenbach, J ;

Petit, C ;

Weil, D .

HUMAN MOLECULAR GENETICS, 1997, 6 (13) :2247-2255

[2] A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family [J].

Abdelhak, S ;

Kalatzis, V ;

Heilig, R ;

Compain, S ;

Samson, D ;

Vincent, C ;

Weil, D ;

Cruaud, C ;

Sahly, I ;

Leibovici, M ;

BitnerGlindzicz, M ;

Francis, M ;

Lacombe, D ;

Vigneron, J ;

Charachon, R ;

Boven, K ;

Bedbeder, P ;

VanRegemorter, N ;

Weissenbach, J ;

Petit, C .

NATURE GENETICS, 1997, 15 (02) :157-164

[3] PHENOTYPIC MANIFESTATIONS OF BRANCHIOOTORENAL SYNDROME [J].

CHEN, A ;

FRANCIS, M ;

NI, L ;

CREMERS, CWRJ ;

KIMBERLING, WJ ;

SATO, Y ;

PHELPS, PD ;

BELLMAN, SC ;

WAGNER, MJ ;

PEMBREY, M ;

SMITH, RJH .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1995, 58 (04) :365-370

[4] Reliability of DHPLC in mutational screening of β-globin (HBB) alleles [J].

Colosimo, A ;

Guida, V ;

De Luca, A ;

Cappabianca, MP ;

Bianco, I ;

Palka, G ;

Dallapiccola, B .

HUMAN MUTATION, 2002, 19 (03) :287-295

[5] NF1 Gene Analysis Based on DHPLC [J].

De Luca, Alessandro ;

Buccino, Anna ;

Gianni, Debora ;

Mangino, Massimo ;

Giustini, Sandra ;

Richetta, Antonio ;

Divona, Luigina ;

Calvieri, Stefano ;

Mingarelli, Rita ;

Dallapiccola, Bruno .

HUMAN MUTATION, 2003, 21 (02) :171-172

[6] Interpreting epidemiological research:: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1 [J].

Eng, C ;

Brody, LC ;

Wagner, TMU ;

Devilee, P ;

Vijg, J ;

Szabo, C ;

Tavtigian, SV ;

Nathanson, KL ;

Ostrander, E ;

Frank, TS .

JOURNAL OF MEDICAL GENETICS, 2001, 38 (12) :824-833

[7] Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC) [J].

Flex, E ;

De Luca, A ;

D'Aspice, MR ;

Buccino, A ;

Dallapiccola, B ;

Novelli, G .

NEUROMUSCULAR DISORDERS, 2002, 12 (05) :501-505

[8] FREQUENCY OF THE BRANCHIO-OTO-RENAL (BOR) SYNDROME IN CHILDREN WITH PROFOUND HEARING-LOSS [J].

FRASER, FC ;

SPROULE, JR ;

HALAL, F .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1980, 7 (03) :341-349

[9] BRANCHIOOTORENAL SYNDROME - REDUCED PENETRANCE AND VARIABLE EXPRESSIVITY IN 4 GENERATIONS OF A LARGE KINDRED [J].

HEIMLER, A ;

LIEBER, E .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1986, 25 (01) :15-27

[10]

HUNTER AGW, 1974, TERATOLOGY, V9, P225, DOI 10.1002/tera.1420090214

← 1 2 3 →