INTRAGENIC OR EXTRAGENIC DELETIONS ARE ASSOCIATED WITH EHLERS-DANLOS SYNDROME TYPE-II AND BROAD BONED LETHAL OSTEOGENESIS IMPERFECTA

被引：0
作者：
POPE, FM
GROSVELD, FG
NICHOLLS, AC
机构：
[1] NATL INST MED RES,GENE STRUCT & EXPRESS LAB,LONDON NW7 1AA,ENGLAND
[2] MRC,CTR CLIN RES,HARROW HA1 3UJ,MIDDX,ENGLAND
来源：
JOURNAL OF MEDICAL GENETICS | 1983年 / 20卷 / 06期
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：455 / 455
页数：1
相关论文
共 50 条
[21]   EXCLUSION OF THE ALPHA-1 (II) COLLAGEN GENE AS THE MUTANT LOCUS IN TYPE-II EHLERS-DANLOS SYNDROME [J].
WORDSWORTH, P ;
OGILVIE, D ;
SYKES, B ;
SMITH, R .
BRITISH JOURNAL OF RHEUMATOLOGY, 1985, 24 (01) :111-112
[22]   Anesthesia for cesarean delivery in a patient with Ehlers-Danlos syndrome type II [J].
Goldstein, M ;
Miller, R .
REGIONAL ANESTHESIA, 1997, 22 (03) :280-283
[23]   Rough endoplasmic reticulum expansion: a consistent finding in a patient cohort with vascular Ehlers-Danlos Syndrome and Osteogenesis Imperfecta [J].
Redman, Melody G. ;
Wagner, Bart E. ;
Cadden, Sophie ;
Baker, Duncan ;
Bowen, Jessica M. ;
Johnson, Diana ;
Sobey, Glenda ;
Balasubramanian, Meena .
ULTRASTRUCTURAL PATHOLOGY, 2021, 45 (06) :414-420
[24]   Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome [J].
Malfait, Fransiska ;
Symoens, Sofie ;
Goemans, Nathalie ;
Gyftodimou, Yolanda ;
Holmberg, Eva ;
Lopez-Gonzalez, Vanesa ;
Mortier, Geert ;
Nampoothiri, Sheela ;
Petersen, Michael Bjorn ;
De Paepe, Anne .
ORPHANET JOURNAL OF RARE DISEASES, 2013, 8
[25]   MOLECULAR HETEROGENEITY IN PERINATAL LETHAL OSTEOGENESIS IMPERFECTA (OI TYPE-II) [J].
BYERS, PH ;
BONADIO, JF ;
STEINMANN, B ;
BARSH, GS ;
HOLBROOK, KA ;
GREENBERG, C ;
ROWE, DW ;
GELINAS, R .
AMERICAN JOURNAL OF HUMAN GENETICS, 1983, 35 (06) :A39-A39
[26]   Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome [J].
Fransiska Malfait ;
Sofie Symoens ;
Nathalie Goemans ;
Yolanda Gyftodimou ;
Eva Holmberg ;
Vanesa López-González ;
Geert Mortier ;
Sheela Nampoothiri ;
Michael Bjorn Petersen ;
Anne De Paepe .
Orphanet Journal of Rare Diseases, 8
[27]   A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly [J].
Budsamongkol, Thunyaporn ;
Intarak, Narin ;
Theerapanon, Thanakorn ;
Yodsanga, Somchai ;
Porntaveetus, Thantrira ;
Shotelersuk, Vorasuk .
GENES & DISEASES, 2019, 6 (02) :138-146
[28]   A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries? [J].
Franceschini, P ;
Guala, A ;
Licata, D ;
Di Cara, GG ;
Franceschini, D .
ACTA PAEDIATRICA, 2003, 92 (10) :1230-1230
[29]   Ehlers-Danlos syndrome type IV associated with arterial and bowel perforation [J].
Jabbar, ASA .
ANNALS OF SAUDI MEDICINE, 2000, 20 (5-6) :421-423
[30]   An in vitro model to evaluate the properties of matrices produced by fibroblasts from osteogenesis imperfecta and Ehlers-Danlos Syndrome patients [J].
Micha, Dimitra ;
Pals, Gerard ;
Smit, Theo H. ;
Ghazanfari, Samaneh .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2020, 521 (02) :310-317
12345