ライフサイエンスコーパス: Kallmann syndrome

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

2 ystem leads to hypogonadotropic gonadism and Kallmann syndrome.

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

4 idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

5 he expression of molecules involved in human Kallmann syndrome.

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

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

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

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

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

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

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

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

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

15 While Kallmann syndrome-associated mutations have been identif

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

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

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

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

20 Kallmann syndrome is a neurological disorder characteriz

21 Kallmann syndrome is an inherited deficiency of gonadotr

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

23 Kallmann syndrome (KS) is a genetic disease characterize

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

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

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

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

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

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

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

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

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

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

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

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

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