ライフサイエンスコーパス: Apert syndrome

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1 BRCA2, and one to the Alu element in FGFR2 (Apert syndrome).

2 vere than the limb abnormalities observed in Apert syndrome.

3 ws post-natal assessment of other aspects of Apert syndrome.

4 d craniofacial abnormalities associated with Apert syndrome.

5 ution results in a phenotype consistent with Apert syndrome.

6 lence of other malformations associated with Apert syndrome.

7 ponsible for virtually all sporadic cases of Apert syndrome.

8 standing the basis of respiratory defects in Apert syndrome.

9 are disorders related to paternal age (e.g., Apert syndrome, achondroplasia), this process is known a

10 ent FGFR signaling-related diseases, such as Apert syndrome and cancer.

11 in the receptor tyrosine kinases that cause Apert syndrome and MEN2B.

12 on could explain the paternal age effect for Apert syndrome and other genetic conditions.

13 phenocopied the symphalangism that occurs in Apert syndrome and the number of affected joints was dep

14 These findings indicate that Apert syndrome arises as a result of increased affinity

15 Apert syndrome (AS) is characterized by craniosynostosis

16 Apert syndrome (AS) is one of the most severe craniosyno

17 iety of craniosynostosis syndromes including Apert syndrome (AS), Pfeiffer syndrome (PS) and Crouzon

18 al origin of mutations have been reported in Apert syndrome (AS).

19 ting mutations in FGFR2 and FGFR3 that cause Apert Syndrome, Beare-Stevenson Syndrome, hypochondropla

20 A small group of disorders, including Apert syndrome (caused by FGFR2 mutations), achondroplas

21 In Apert syndrome, characterised by syndactyly of the hands

22 Apert syndrome, characterized in addition by syndactyly

23 l origin of three sporadic mutations causing Apert syndrome (FGFR2) and achondroplasia (FGFR3).

24 ions in Crouzon, Jackson-Weiss, Pfeiffer and Apert syndromes have been reported in the FGFR2 extracel

25 Apert syndrome is a distinctive human malformation chara

26 Apert syndrome is an autosomal dominant disorder charact

27 s Fgfr2b in mesenchymal tissues and manifest Apert syndrome-like phenotypes.

28 Here, we report on the C758G de novo Apert syndrome mutation.

29 r the C342Y (Crouzon syndrome) or the S252W (Apert syndrome) mutation in OB1 cells.

30 Among them is Apert syndrome, one of the most severe forms of craniosy

31 n, aneuploidies/diploidies, FGFR2 mutations (Apert syndrome), or sex ratio in this cohort.

32 Most Apert syndrome patients harbor a single amino acid mutat

33 significant role in the pathogenesis of the Apert syndrome phenotype.

34 However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfei

35 n-of-function interactions that occur in the Apert syndrome Pro253Arg FGFR2c-FGF2 crystal structure.

36 o253Arg) previously reported in Pfeiffer and Apert syndromes, respectively.

37 Apert syndrome results from one or other of two specific

38 lysis of DNA from 70 unrelated patients with Apert syndrome showed that 45 had the Ser252Trp mutation

39 ations, and risk of fathering offspring with Apert syndrome that may vary across cohorts, but with no

40 servation that the Ser252Phe mutation causes Apert syndrome, whereas the other single or double subst

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