Literature DB >> 30255480

Unilateral renal agenesis as an early marker for genetic screening in Kallmann syndrome.

M I Stamou1,2,3, L Plummer4, A Galli-Tsinopoulou5, D Stergidou5, V Koika6, N A Georgopoulos6.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2018        PMID： 30255480      PMCID： PMC6433544          DOI： 10.1007/s42000-018-0061-1

Source DB:  PubMed          Journal:  Hormones (Athens)        ISSN： 1109-3099            Impact factor:   2.885


× No keyword cloud information.
  7 in total

1.  Can Kallmann syndrome be occasionally diagnosed during childhood? Genetic diagnosis in a child with associated renal agenesis and mirror movements.

Authors:  Neoklis A Georgopoulos; Vasiliki Koika; Petros Varnavas; Alexandra Efthymiadou; Dimitra J Marioli; Stefanos Mantagos; Dionysios Chrysis
Journal:  Asian J Androl       Date:  2009-02-23       Impact factor: 3.285

2.  Isolated GNRH deficiency: genotypic and phenotypic characteristics of the genetically heterogeneous Greek population.

Authors:  M I Stamou; P Varnavas; M Kentrou; F Adamidou; A Voutetakis; J Jing; L Plummer; V Koika; N A Georgopoulos
Journal:  Eur J Endocrinol       Date:  2016-11-24       Impact factor: 6.664

3.  Idiopathic gonadotrophin deficiency: genetic questions addressed through phenotypic characterization.

Authors:  R Quinton; V M Duke; A Robertson; J M Kirk; G Matfin; P A de Zoysa; C Azcona; G S MacColl; H S Jacobs; G S Conway; M Besser; R G Stanhope; P M Bouloux
Journal:  Clin Endocrinol (Oxf)       Date:  2001-08       Impact factor: 3.478

4.  Clues to an early diagnosis of Kallmann syndrome.

Authors:  Julie D Kaplan; Jonathan A Bernstein; Andrea Kwan; Louanne Hudgins
Journal:  Am J Med Genet A       Date:  2010-11       Impact factor: 2.802

5.  Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism.

Authors:  Nelly Pitteloud; Richard Quinton; Simon Pearce; Taneli Raivio; James Acierno; Andrew Dwyer; Lacey Plummer; Virginia Hughes; Stephanie Seminara; Yu-Zhu Cheng; Wei-Ping Li; Gavin Maccoll; Anna V Eliseenkova; Shaun K Olsen; Omar A Ibrahimi; Frances J Hayes; Paul Boepple; Janet E Hall; Pierre Bouloux; Moosa Mohammadi; William Crowley
Journal:  J Clin Invest       Date:  2007-01-18       Impact factor: 14.808

Review 6.  Genetic approaches to human renal agenesis/hypoplasia and dysplasia.

Authors:  Simone Sanna-Cherchi; Gianluca Caridi; Patricia L Weng; Francesco Scolari; Francesco Perfumo; Ali G Gharavi; Gian Marco Ghiggeri
Journal:  Pediatr Nephrol       Date:  2007-04-17       Impact factor: 3.714

7.  An integrated map of genetic variation from 1,092 human genomes.

Authors:  Goncalo R Abecasis; Adam Auton; Lisa D Brooks; Mark A DePristo; Richard M Durbin; Robert E Handsaker; Hyun Min Kang; Gabor T Marth; Gil A McVean
Journal:  Nature       Date:  2012-11-01       Impact factor: 49.962
  7 in total
  1 in total

1.  Eight rare urinary disorders in a patient with Kallmann syndrome: A case report.

Authors:  Huining Tian; Zi Yan; You Lv; Lin Sun; Xiaokun Gang; Guixia Wang
Journal:  Medicine (Baltimore)       Date:  2020-10-23       Impact factor: 1.817
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.