Literature DB >> 1594017

Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome.

D Bick1, B Franco, R J Sherins, B Heye, L Pike, J Crawford, A Maddalena, B Incerti, A Pragliola, T Meitinger, A Ballabio.   

Abstract

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Year:  1992        PMID： 1594017     DOI： 10.1056/NEJM199206253262606

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  21 in total

1.  Identification of two novel missense mutations in the KAL1 gene in Han Chinese subjects with Kallmann Syndrome.

Authors:  T-S Jap; C-Y Chiu; J-F Lirng; G-S Won
Journal:  J Endocrinol Invest       Date:  2010-06-04       Impact factor: 4.256

2.  Commentary: the year in endocrine genetics for basic scientists.

Authors:  William F Crowley
Journal:  Mol Endocrinol       Date:  2011-11-22

3.  Clinical assessment and genomic landscape of a consanguineous family with three Kallmann syndrome descendants.

Authors:  Shi-Lin Zhang; Yan-Ping Tang; Tao Wang; Jun Yang; Ke Rao; Ling-Yun Zhao; Wen-Zhen Zhu; Xiang-Hu Meng; Shao-Gang Wang; Ji-Hong Liu; Wei-Min Yang; Zhang-Qun Ye
Journal:  Asian J Androl       Date:  2010-11-01       Impact factor: 3.285

4.  Idiopathic hypogonadotrophic hypogonadism associated with arachnoid cyst of the middle fossa and forebrain anomalies: presentation of an unusual case.

Authors:  M Tasar; U Bozlar; S Yetiser; E Bolu; A Tasar; E Gonul
Journal:  J Endocrinol Invest       Date:  2005-11       Impact factor: 4.256

Review 5.  New genes controlling human reproduction and how you find them.

Authors:  William F Crowley; Nelly Pitteloud; Stephanie Seminara
Journal:  Trans Am Clin Climatol Assoc       Date:  2008

6.  Clinical genetic testing for Kallmann syndrome.

Authors:  Lawrence C Layman
Journal:  J Clin Endocrinol Metab       Date:  2013-05       Impact factor: 5.958

7.  Microcephaly/Trigonocephaly, Intellectual Disability, Autism Spectrum Disorder, and Atypical Dysmorphic Features in a Boy with Xp22.31 Duplication.

Authors:  Piero Pavone; Giovanni Corsello; Silvia Marino; Martino Ruggieri; Raffaele Falsaperla
Journal:  Mol Syndromol       Date:  2018-10-02

8.  Fibroblast growth factor 8 signaling through fibroblast growth factor receptor 1 is required for the emergence of gonadotropin-releasing hormone neurons.

Authors:  Wilson C J Chung; Sarah S Moyle; Pei-San Tsai
Journal:  Endocrinology       Date:  2008-06-19       Impact factor: 4.736

9.  Diagnosis of X-recessive Kallmann syndrome in early infancy. Evidence of hypoplastic rhinencephalon.

Authors:  R Birnbacher; K Wandl-Vergesslich; H Frisch
Journal:  Eur J Pediatr       Date:  1994-04       Impact factor: 3.183

10.  Kallmann's syndrome.

Authors:  M L Kulkarni; M D Balaji; Akhil M Kulkarni; S Sushanth; Bhagyavathi M Kulkarni
Journal:  Indian J Pediatr       Date:  2007-12       Impact factor: 1.967
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