ライフサイエンスコーパス: Smith-Magenis syndrome

1 e considered as we engineer a mouse model of Smith-Magenis syndrome.

2 dify disease progression in a mouse model of Smith-Magenis syndrome.

3 enic to the common deletion interval for the Smith-Magenis syndrome, a contiguous gene deletion syndr

4 Smith-Magenis syndrome and [dup(17)(p11.2p11.2)] are CGS

5 rocal genomic disorders; deletion associated Smith-Magenis syndrome and duplication associated Potock

6 approximately 240-kb interval located in the Smith-Magenis syndrome common deletion region in 17p11.2

7 point mutations in the RAI1 gene within the Smith-Magenis syndrome critical region have been reporte

8 urther research into additional genes in the Smith-Magenis syndrome critical region will help define

9 Cross sectional studies of patients with Smith-Magenis syndrome have found evidence for central a

10 Smith-Magenis syndrome is associated with a 3.7-Mb delet

11 der in a chimpanzee with features resembling Smith-Magenis syndrome mediated by a chimpanzee-specific

12 ndrome critical region have been reported in Smith-Magenis syndrome patients without detectable delet

13 lay in modifying features or severity of the Smith-Magenis syndrome phenotype.

14 p11.2, commonly deleted in patients with the Smith-Magenis syndrome (SMS) and duplicated in patients

15 Smith-Magenis syndrome (SMS) and Potocki-Lupski syndrome

16 hotspot was identified in patients with the Smith-Magenis syndrome (SMS) common deletion of approxim

17 an LCR sequence (middle SMS-REP) within the Smith-Magenis syndrome (SMS) common deletion.

18 h dup(17)(p11.2p11.2), the reciprocal of the Smith-Magenis syndrome (SMS) deletion, del(17)(p11.2p11.

19 Smith-Magenis syndrome (SMS) is a CGS associated with a

20 Smith-Magenis syndrome (SMS) is a clinically recognizabl

21 Smith-Magenis Syndrome (SMS) is a complex genomic disord

22 Smith-Magenis syndrome (SMS) is a genetic disorder cause

23 Smith-Magenis syndrome (SMS) is a genomic disorder cause

24 Smith-Magenis syndrome (SMS) is a mental retardation syn

25 Smith-Magenis syndrome (SMS) is a multiple congenital an

26 Smith-Magenis syndrome (SMS) is a multiple congenital an

27 Smith-Magenis syndrome (SMS) is a multiple congenital an

28 Smith-Magenis syndrome (SMS) is associated with an appro

29 Smith-Magenis syndrome (SMS) is caused by an approximate

30 e homologous recombination reciprocal of the Smith-Magenis syndrome (SMS) microdeletion (del(17)(p11.

31 y analyzing patients with antibody-deficient Smith-Magenis syndrome (SMS) who possess only 1 TNFRSF13

32 pped within the critical deletion region for Smith-Magenis syndrome (SMS), a disorder characterized b

33 Haploinsufficiency of RAI1 results in Smith-Magenis syndrome (SMS), a disorder characterized b

34 d-induced 1 (RAI1) haploinsufficiency causes Smith-Magenis syndrome (SMS), a genetic disorder with sy

35 0 genes identified in the critical region of Smith-Magenis syndrome (SMS), a genomic disorder with mu

36 ncy in retinoic acid induced 1 (RAI1) causes Smith-Magenis syndrome (SMS), a severe neurodevelopmenta

37 y with liability to pressure palsies (HNPP), Smith-Magenis syndrome (SMS), and mental retardation and

38 Smith-Magenis syndrome (SMS), caused by del(17)p11.2, re

39 B3 maps within the common deletion region of Smith-Magenis syndrome (SMS), del(17)(p11.2p11.2).

40 In Smith-Magenis syndrome (SMS), the dysregulation of both

41 ncy of Retinoic Acid Induced 1 (RAI1) causes Smith-Magenis syndrome (SMS), which is associated with d

42 one of the major clinical manifestations of Smith-Magenis syndrome (SMS).

43 eletion of 17p11.2, which is associated with Smith-Magenis syndrome (SMS).

44 tein, retinoic acid induced 1 (RAI1), causes Smith-Magenis syndrome (SMS).

45 in reduced expression of RAI1, which causes Smith-Magenis syndrome when haploinsufficient, providing