Rubinstein-Taybi syndrome (CREBBP, EP300)

被引：19

作者：

van Belzen, Martine ^{[2
]}

Bartsch, Oliver ^{[3
]}

Lacombe, Didier ^{[4
]}

Peters, Dorien J. M. ^{[5
]}

Hennekam, Raoul C. M. ^{[1
]}

机构：

[1] Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1105 AZ Amsterdam, Netherlands

[2] Leiden Univ Med Ctr, Dept Clin Genet, Leiden, Netherlands

[3] Johannes Gutenberg Univ Mainz, Med Ctr, Inst Human Genet, Mainz, Germany

[4] Bordeaux Univ Hosp, Dept Med Genet, Bordeaux, France

[5] Leiden Univ Med Ctr, Dept Human Genet, Leiden, Netherlands

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2011年 / 19卷 / 01期

关键词：

MUTATIONS; GENE; CBP;

D O I：

10.1038/ejhg.2010.124

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

引用

页码：3 / 3

页数：3

共 13 条

[1] DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS
Bartsch, O
Schmidt, S
Richter, M
Morlot, S
Seemanová, E
Wiebe, G
Rasi, S
[J]. HUMAN GENETICS, 2005, 117 (05) : 485 - 493
[2] Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome
Bartsch, Oliver
Rasi, Sasan
Delicado, Alicia
Dyack, Sarah
Neumann, Luitgard M.
Seemanov, Eva
Volleth, Marianne
Haaf, Thomas
Kalscheuer, Vera M.
[J]. HUMAN GENETICS, 2006, 120 (02) : 179 - 186
[3] Two Patients With EP300 Mutations and Facial Dysmorphism Different From the Classic Rubinstein-Taybi Syndrome
Bartsch, Oliver
Labonte, Janette
Albrecht, Beate
Wieczorek, Dagmar
Lechno, Stanislav
Zechner, Ulrich
Haaf, Thomas
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (01) : 181 - 184
[4] Rubinstein-Taybi syndrome:: spectrum of CREBBP mutations in Italian patients
Bentivegna, Angela
Milani, Donatella
Gervasini, Cristina
Castronovo, Paola
Mottadelli, Federica
Manzini, Stefano
Colapietro, Patrizia
Giordano, Lucio
Atzeri, Francesca
Divizia, Maria T.
Uzielli, Maria L. Giovannucci
Neri, Giovanni
Bedeschi, Maria F.
Faravelli, Francesca
Selicorni, Angelo
Larizza, Lidia
[J]. BMC MEDICAL GENETICS, 2006, 7
[5] Somatic and Germ-Line Mosaicism in Rubinstein-Taybi Syndrome
Chiang, Pei-Wen
Lee, Ni-Chung
Chien, Nancy
Hwu, Wuh-Liang
Spector, Elaine
Tsai, Anne Chun-Hui
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (07) : 1463 - 1467
[6] Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome
Coupry, I
Roudaut, C
Stef, M
Delrue, MA
Marche, M
Burgelin, I
Taine, L
Cruaud, C
Lacombe, D
Arveiler, B
[J]. JOURNAL OF MEDICAL GENETICS, 2002, 39 (06) : 415 - 421
[7] High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints
Gervasini, Cristina
Castronovo, Paola
Bentivegna, Angela
Mottadelli, Federica
Faravelli, Francesca
Giovannucci-Uzielli, Maria Luisa
Pessagno, Alice
Lucci-Cordisco, Emanuela
Pinto, Anna Maria
Salviati, Leonardo
Selicorni, Angelo
Tenconi, Romano
Neri, Giovanni
Larizza, Lidia
[J]. GENOMICS, 2007, 90 (05) : 567 - 573
[8] Hennekam R.C., 2010, MANAGEMENT GENETIC S, P705
[9] HENNEKAM RCM, 1990, AM J MED GENET, P56
[10] Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations
Petrij, F
Dauwerse, HG
Blough, RI
Giles, RH
van der Smagt, JJ
Wallerstein, R
Maaswinkel-Mooy, PD
van Karnebeek, CD
van Ommen, GJB
van Haeringen, A
Rubinstein, JH
Saal, HM
Hennekam, RCM
Peters, DJM
Breuning, MH
[J]. JOURNAL OF MEDICAL GENETICS, 2000, 37 (03) : 168 - 176

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