Literature DB >> 12471218

A comparative study between infertile males and patients with Turner syndrome to determine the influence of sex chromosome mosaicism and the breakpoints of structurally abnormal Y chromosomes on phenotypic sex.

C R Quilter, N Nathwani, G S Conway, R Stanhope, D Ralph, G Bahadur, P Serhal, K Taylor, J D A Delhanty.   

Abstract

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Year:  2002        PMID： 12471218      PMCID： PMC1757226          DOI： 10.1136/jmg.39.12.e80

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  3 in total

1.  Molecular analysis of ring y chromosome in a 10-year-old boy with mixed gonadal dysgenesis and growth hormone deficiency.

Authors:  T Milenkovic; M Guc-Scekic; D Zdravkovic; V Topic; T Liehr; G Joksic; D Radivojevic; N Lakic
Journal:  Balkan J Med Genet       Date:  2011-12       Impact factor: 0.519

2.  Startling mosaicism of the Y-chromosome and tandem duplication of the SRY and DAZ genes in patients with Turner Syndrome.

Authors:  Sanjay Premi; Jyoti Srivastava; Ganesan Panneer; Sher Ali
Journal:  PLoS One       Date:  2008-11-24       Impact factor: 3.240

Review 3.  The Role of Number of Copies, Structure, Behavior and Copy Number Variations (CNV) of the Y Chromosome in Male Infertility.

Authors:  Fabrizio Signore; Caterina Gulìa; Raffaella Votino; Vincenzo De Leo; Simona Zaami; Lorenza Putignani; Silvia Gigli; Edoardo Santini; Luca Bertacca; Alessandro Porrello; Roberto Piergentili
Journal:  Genes (Basel)       Date:  2019-12-29       Impact factor: 4.096
  3 in total

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