Literature DB >> 19234483

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

Neoklis A Georgopoulos, Vasiliki Koika, Petros Varnavas, Alexandra Efthymiadou, Dimitra J Marioli, Stefanos Mantagos, Dionysios Chrysis.   

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Year:  2009        PMID： 19234483      PMCID： PMC3735315          DOI： 10.1038/aja.2008.24

Source DB:  PubMed          Journal:  Asian J Androl        ISSN： 1008-682X            Impact factor:   3.285


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  5 in total

1.  Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency.

Authors:  N A Georgopoulos; F P Pralong; C E Seidman; J G Seidman; W F Crowley; M Vallejo
Journal:  J Clin Endocrinol Metab       Date:  1997-01       Impact factor: 5.958

2.  Evidence of testicular activity in early infancy.

Authors:  M G Forest; A M Cathiard; J A Bertrand
Journal:  J Clin Endocrinol Metab       Date:  1973-07       Impact factor: 5.958

3.  The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human.

Authors:  J Waldstreicher; S B Seminara; J L Jameson; A Geyer; L B Nachtigall; P A Boepple; L B Holmes; W F Crowley
Journal:  J Clin Endocrinol Metab       Date:  1996-12       Impact factor: 5.958

4.  Structure of the X-linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome.

Authors:  I del Castillo; M Cohen-Salmon; S Blanchard; G Lutfalla; C Petit
Journal:  Nat Genet       Date:  1992-12       Impact factor: 38.330

5.  Renal dysgenesis and KAL1 gene defects in patients with sporadic Kallmann syndrome.

Authors:  Neoklis A Georgopoulos; Vasiliki Koika; Assimina Galli-Tsinopoulou; Bessie E Spiliotis; George Adonakis; Maria K Keramida; Argyro Sgourou; Kleanthis D Koufogiannis; Adamantia Papachatzopoulou; Athanasios G Papavassiliou; George Kourounis; George A Vagenakis
Journal:  Fertil Steril       Date:  2007-07-02       Impact factor: 7.329
  5 in total
  1 in total

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

Authors:  M I Stamou; L Plummer; A Galli-Tsinopoulou; D Stergidou; V Koika; N A Georgopoulos
Journal:  Hormones (Athens)       Date:  2018-09-25       Impact factor: 2.885
  1 in total

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