Identification of the Fourth Duplication of Upstream IHH Regulatory Elements, in a Family with Craniosynostosis Philadelphia Type, Helps to Define the Phenotypic Characterization of These Regulatory Elements

被引：8
作者：
Barroso, Eva [1 ,2 ]
Berges-Soria, Julia [1 ]
Benito-Sanz, Sara [1 ,2 ]
Ivan Rivera-Pedroza, Carlos [1 ]
Juliana Ballesta-Martinez, Maria [2 ,3 ]
Lopez-Gonzalez, Vanesa [2 ,3 ]
Guillen-Navarro, Encarna [2 ,3 ,4 ]
Heath, Karen E. [1 ,2 ]
机构：
[1] Univ Autonoma Madrid, Inst Med & Mol Genet INGEMM, Hosp Univ La Paz, IdiPAZ, Madrid, Spain
[2] Inst Carlos, Ctr Invest Biomed Enfermedades Raras CIBERER, Madrid, Spain
[3] Univ Virgen Arrixaca, Hosp Clin, Med Genet Unit, Dept Pediat,IMIB Arrixaca, Murcia, Spain
[4] UCAM Univ Catolica San Antonio Murcia, Catedra Genet Med, Murcia, Spain
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2015年 / 167卷 / 04期
关键词：
SYNDACTYLY TYPE-1; HEDGEHOG; LOCUS; HOMOGENEITY; GENE;
D O I：
10.1002/ajmg.a.36811
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
[No abstract available]
引用
收藏
页码：902 / 906
页数：5
相关论文
共 15 条
[1]   Polydactyly in the mouse mutant Doublefoot involves altered Gli3 processing and is caused by a large deletion in cis to Indian hedgehog [J].
Babbs, Christian ;
Furniss, Dominic ;
Morriss-Kay, Gillian M. ;
Wilkie, Andrew O. M. .
MECHANISMS OF DEVELOPMENT, 2008, 125 (5-6) :517-526
[2]   Clinical and Molecular Evaluation of SHOX/PAR1 Duplications in Leri-Weill Dyschondrosteosis (LWD) and Idiopathic Short Stature (ISS) [J].
Benito-Sanz, S. ;
Barroso, E. ;
Heine-Suner, D. ;
Hisado-Oliva, A. ;
Romanelli, V. ;
Rosell, J. ;
Aragones, A. ;
Caimari, M. ;
Argente, J. ;
Ross, J. L. ;
Zinn, A. R. ;
Gracia, R. ;
Lapunzina, P. ;
Campos-Barros, A. ;
Heath, K. E. .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2011, 96 (02) :E404-E412
[3]   HEDGEHOG AND BMP GENES ARE COEXPRESSED AT MANY DIVERSE SITES OF CELL-CELL INTERACTION IN THE MOUSE EMBRYO [J].
BITGOOD, MJ ;
MCMAHON, AP .
DEVELOPMENTAL BIOLOGY, 1995, 172 (01) :126-138
[4]   Localization of a gene for syndactyly type 1 to chromosome 2q34-q36 [J].
Bosse, K ;
Betz, RC ;
Lee, YA ;
Wienker, TF ;
Reis, A ;
Kleen, H ;
Propping, P ;
Cichon, S ;
Nöthen, MM .
AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (02) :492-497
[5]   A population-based study of craniosynostosis in metropolitan Atlanta, 1989-2003 [J].
Boulet, Sheree L. ;
Rasmussen, Sonja A. ;
Honein, Margaret A. .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008, 146A (08) :984-991
[6]   The mechanisms of Hedgehog signalling and its roles in development and disease [J].
Briscoe, James ;
Therond, Pascal P. .
NATURE REVIEWS MOLECULAR CELL BIOLOGY, 2013, 14 (07) :416-429
[7]   SYNDACTYLY - FREQUENCY OF SPECIFIC TYPES [J].
CASTILLA, EE ;
PAZ, JE ;
ORIOLIPARREIRAS, IM .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1980, 5 (04) :357-364
[8]   Confirmation of genetic homogeneity of syndactyly type 1 in an Iranian family [J].
Ghadami, M ;
Majidzadeh-A, K ;
Haerian, BS ;
Damavandi, E ;
Yamada, K ;
Pasallar, P ;
Najafi, MT ;
Nishimura, G ;
Tomita, HA ;
Yoshiura, KI ;
Niikawa, N .
AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 104 (02) :147-151
[9]   Locus homogeneity between syndactyly type 1A craniosynostosis Philadelphia type? [J].
Jain, Mahim ;
Wallis, Deeann ;
Robin, Nathaniel H. ;
De Vrieze, Fabienne Wavrant ;
Hardy, John A. ;
Ghadami, Mohsen ;
Bosse, Kristin ;
Betz, Regina C. ;
Noethen, Markus M. ;
Arcos-Burgos, Mauricio ;
Muenke, Maximilian .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008, 146A (17) :2308-2311
[10]   Copy-Number Variations Involving the IHH Locus Are Associated with Syndactyly and Craniosynostosis [J].
Klopocki, Eva ;
Lohan, Silke ;
Brancati, Francesco ;
Koll, Randi ;
Brehm, Anja ;
Seemann, Petra ;
Dathe, Katarina ;
Stricker, Sigmar ;
Hecht, Jochen ;
Bosse, Kristin ;
Betz, Regina C. ;
Garaci, Francesco Giuseppe ;
Dallapiccola, Bruno ;
Jain, Mahim ;
Muenke, Maximilian ;
Ng, Vivian C. W. ;
Chan, Wilson ;
Chan, Danny ;
Mundlos, Stefan .
AMERICAN JOURNAL OF HUMAN GENETICS, 2011, 88 (01) :70-75
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