ライフサイエンスコーパス: Kallmann

1 Kallmann syndrome (KS) is a genetic disease characterize

2 Kallmann syndrome is a neurological disorder characteriz

3 Kallmann syndrome is an inherited deficiency of gonadotr

4 Kallmann's syndrome corresponds to a loss of sense of sm

5 ed in DM, but not sIBM, were interleukin 22, Kallmann syndrome 1 (KAL-1), an adhesion molecule shown

6 luding Fraser, renal cysts and diabetes, and Kallmann syndromes.

7 ystem leads to hypogonadotropic gonadism and Kallmann syndrome.

8 idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

9 CHARGE syndrome and Kallmann syndrome (KS) are two distinct developmental di

10 onadotropic hypogonadism (IHH) with anosmia (Kallmann syndrome; KS) or with a normal sense of smell (

11 otropic hypogonadism (nIHH) or with anosmia [Kallmann syndrome (KS)].

12 ct olfaction and sexual development, such as Kallmann syndrome, may be in part neurocristopathies.

13 Mutations in KAL1 and FGFR1 cause Kallmann syndrome (KS), whereas mutations in the GNRHR a

14 In a human condition, Kallmann syndrome, the data show a clear, indirect genet

15 approximately 600 individuals who had either Kallmann syndrome or isolated or syndromic ocular and/or

16 6: The Genetic Theory of Schizophrenia Franz Kallmann's influential twin study of schizophrenia in 69

17 We studied six right-handed Kallmann male subjects and six matched, right-handed con

18 he expression of molecules involved in human Kallmann syndrome.

19 nificant activation of the ipsilateral M1 in Kallmann's subjects may be due to sensory feedback from

20 n implicated in FGF signaling and mutated in Kallmann syndrome.

21 Disruption of this migration results in Kallmann syndrome (KS), which is characterized by anosmi

22 facial or multi-system malformations include Kallmann syndrome and idiopathic hypogonadotropic hypogo

23 expand the TUBB3 E410K phenotype to include Kallmann syndrome (hypogonadotropic hypogonadism and ano

24 X-linked Kallmann's (XKS) subjects, who display mirror movements,

25 We have studied six subjects with X-linked Kallmann's syndrome (XKS) and mirror movements.

26 ng these responses in subjects with X-linked Kallmann's syndrome (XKS).

27 en in the majority of patients with X-linked Kallmann's syndrome have been investigated using neuroph

28 chanism of mirror movements seen in X-linked Kallmann's syndrome, we measured changes of regional cer

29 ated syndrome (Waardenburg (SOX10 and MITF), Kallmann (CHD7 and SOX10), Noonan/LEOPARD (PTPN11), CHAR

30 for understanding the mechanism of action of Kallmann syndrome mutations and the order of trans-phosp

31 er important insight into the development of Kallmann syndrome and provide tools for elucidating muta

32 n-1 result in the X-linked inherited form of Kallmann's syndrome.

33 anosmia, are reminiscent of the symptoms of Kallmann syndrome, a human developmental disease that ca

34 mal menstrual cycle, and in the treatment of Kallmann's syndrome (a condition where endogenous produc

35 , our findings suggest that in at least some Kallmann patients these neurons may never be specified.

36 corpus callosum agenesis, Joubert syndrome, Kallmann syndrome, and horizontal gaze palsy with progre

37 new genetic aetiology for Moebius syndrome, Kallmann syndrome and cyclic vomiting.

38 The Kallmann group showed a strong primary motor cortex (M1)

39 pathic hypogonadotropic hypogonadism and the Kallmann syndrome was noted after discontinuation of tre

40 m, which may be associated with anosmia (the Kallmann syndrome) or with a normal sense of smell, is a

41 tions in CHD7 have also been reported in the Kallmann syndrome (olfactory dysfunction, delayed pubert

42 receptor gene GNRHR (R262Q), and one in the Kallmann syndrome 1 sequence gene KAL1 (V371I).

43 Mutations in PROKR2 lead to Kallmann syndrome, characterized by anosmia and hypogona

44 eriment it was shown that, in two out of two Kallmann subjects, passive movements of the right hand r

45 While Kallmann syndrome-associated mutations have been identif

46 While Kallmann's syndrome has generally been attributed to a f

47 in semaphorin 3E (SEMA3E) in 2 brothers with Kallmann syndrome (KS), which causes inherited GnRH defi

48 semaphorin 3E (SEMA3E) in two brothers with Kallmann syndrome.

49 this issue, we studied 2 families, one with Kallmann syndrome (IHH and anosmia) and another with nor

50 fect of GnRH in GnRH-deficient patients with Kallmann syndrome, GnRH pulses caused minimal secretory

51 d t(10;12) translocation from a subject with Kallmann syndrome and scanning genes in its vicinity in