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1 ding the neonatally lethal dwarfism known as thanatophoric dysplasia.
2 y activated by the same mutations that cause thanatophoric dysplasia.
3 uted to FGFRs, such as Pfeiffer syndrome and Thanatophoric dysplasia, also arise from constitutive re
6 human cases of homozygous achondroplasia and thanatophoric dysplasia as well as in mouse models of ac
7 sed by FGFR2 mutations), achondroplasia, and thanatophoric dysplasia (FGFR3), and Costello syndrome (
8 is equivalent to a mutation associated with thanatophoric dysplasia-I in humans, has now been shown
9 companying skeletal abnormalities resembling thanatophoric dysplasia II, including increased apoptosi
10 died included camptomelic dysplasia (n = 2), thanatophoric dysplasia (n = 1), osteogenesis imperfecta
11 ogenic Cys mutations, associated with either thanatophoric dysplasia or achondroplasia, in the TM dom
14 he Hspg2-/- skeleton are similar to those of thanatophoric dysplasia (TD) type I, which is caused by
17 mutations in FGFR3 cause achondroplasia and thanatophoric dysplasia, the most common human skeletal
18 delay and acanthosis nigricans) syndrome and thanatophoric dysplasia type I (TD1) (both due to A1949T
21 three different skeletal dysplasia syndromes-thanatophoric dysplasia type II (TD2) (A1948G [Lys650Glu
22 in causes the lethal human skeletal disorder thanatophoric dysplasia type II (TDII) and is also found
25 kin allele of FGFR3 (FGFR3K650E) that causes Thanatophoric Dysplasia Type II (TDII) specifically in p
31 cludes achondroplasia, hypochondroplasia and thanatophoric dysplasia types I and II (TDI and TDII), w
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