Development of individuals with thanatophoric dysplasia surviving beyond infancy

Thanatophoric dysplasia type I (Maroteaux- Lamy- Robert Syndrome), a multidisciplinary approach

10.26226/morressier.596dfd5bd462b802923885a6 ◽

2017 ◽

Author(s):

Ioana Dumitru

Keyword(s):

Multidisciplinary Approach ◽

Type I ◽

Thanatophoric Dysplasia

Download Full-text

Fibroblast growth factor receptor 3 mutations promote apoptosis but do not alter chondrocyte proliferation in thanatophoric dysplasia.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(18)80277-0 ◽

1998 ◽

Vol 273 (30) ◽

pp. 19358

Author(s):

Laurence Legeai-Mallet ◽

Catherine Benoist-Lasselin ◽

Anne-Lise Delezoide ◽

Arnold Munnich ◽

Jacky Bonaventure

Keyword(s):

Growth Factor ◽

Fibroblast Growth Factor ◽

Fibroblast Growth Factor Receptor ◽

Growth Factor Receptor ◽

Fibroblast Growth ◽

Thanatophoric Dysplasia ◽

Chondrocyte Proliferation

Download Full-text

Cerebral abnormalities in thanatophoric dysplasia

Child s Nervous System ◽

10.1007/bf00263828 ◽

1991 ◽

Vol 7 (1) ◽

pp. 21-26 ◽

Cited By ~ 24

Author(s):

Cynthia L. Coulter ◽

Richard W. Leech ◽

Roger A. Brumback ◽

G. Bradley Schaefer

Keyword(s):

Thanatophoric Dysplasia

Download Full-text

An unusual radiological finding in thanatophoric dysplasia type 1 with common mutation of the fibroblast growth factor receptor-3 (FGFR3) gene (Arg248Cys)

American Journal of Medical Genetics ◽

10.1002/(sici)1096-8628(19970711)71:1<122::aid-ajmg22>3.0.co;2-n ◽

1997 ◽

Vol 71 (1) ◽

pp. 122-123 ◽

Cited By ~ 5

Author(s):

Gianni Camera ◽

Maurizia Baldi ◽

Maria Baffico ◽

Silvano Pozzolo

Keyword(s):

Growth Factor ◽

Fibroblast Growth Factor ◽

Fibroblast Growth Factor Receptor ◽

Radiological Finding ◽

Growth Factor Receptor ◽

Common Mutation ◽

Fibroblast Growth ◽

Thanatophoric Dysplasia ◽

Fgfr3 Gene

Download Full-text

Thanatophoric dysplasia with cloverleaf-skull

European Journal of Pediatrics ◽

10.1007/bf00442186 ◽

1982 ◽

Vol 139 (4) ◽

pp. 298-303 ◽

Cited By ~ 11

Author(s):

B. Kremens ◽

H. Kemperdick ◽

F. Borchard ◽

U. G. Liebert

Keyword(s):

Thanatophoric Dysplasia ◽

Cloverleaf Skull

Download Full-text

Intermittent PTH (1-34) injection rescues the retarded skeletal development and postnatal lethality of mice mimicking human achondroplasia and thanatophoric dysplasia

Human Molecular Genetics ◽

10.1093/hmg/dds181 ◽

2012 ◽

Vol 21 (18) ◽

pp. 3941-3955 ◽

Cited By ~ 28

Author(s):

Y. Xie ◽

N. Su ◽

M. Jin ◽

H. Qi ◽

J. Yang ◽

...

Keyword(s):

Skeletal Development ◽

Thanatophoric Dysplasia ◽

Intermittent Pth

Download Full-text

Growth and development in thanatophoric dysplasia

American Journal of Medical Genetics ◽

10.1002/ajmg.1320330420 ◽

1989 ◽

Vol 33 (4) ◽

pp. 508-512 ◽

Cited By ~ 34

Author(s):

Ian M. MacDonald ◽

Alasdair G. W. Hunter ◽

Patrick M. MacLeod ◽

S. Brock MacMurray

Keyword(s):

Growth And Development ◽

Thanatophoric Dysplasia

Download Full-text

Sonographic diagnosis of cloverleaf skull and thanatophoric dysplasia in the second trimester

Journal of Clinical Ultrasound ◽

10.1002/jcu.1870140612 ◽

1986 ◽

Vol 14 (6) ◽

pp. 463-465 ◽

Cited By ~ 8

Author(s):

Carl P. Weiner ◽

Roger A. Williamson ◽

Stephen M. Bonsib

Keyword(s):

Second Trimester ◽

Thanatophoric Dysplasia ◽

Sonographic Diagnosis ◽

Cloverleaf Skull

Download Full-text

Camera G, Baldi M, Strisciuglio P, Concolino D, Mastroiacovo P, Baffico M. 2001. Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype. Am J Med Genet 104:277-281.

American Journal of Medical Genetics ◽

10.1002/ajmg.10470 ◽

2002 ◽

Vol 110 (2) ◽

pp. 193-193 ◽

Cited By ~ 1

Keyword(s):

Type I ◽

Thanatophoric Dysplasia

Download Full-text

Thanatophoric Dysplasia

Pathology International ◽

10.1111/j.1440-1827.1984.tb07566.x ◽

1984 ◽

Vol 34 (2) ◽

pp. 389-398

Author(s):

Takuji Tanaka ◽

Akiyoshi Nishikawa ◽

Seiji Yamaguchi ◽

Tetsuhiko Taguchi ◽

Shigeyuki Sugie ◽

...

Keyword(s):

Thanatophoric Dysplasia

Download Full-text