Literature DB >> 25449292

Azoospermia and ring chromosome 9--a case report.

Rita J Laursen1, Frank Tüttelmann, Peter Humaidan, Helle Olesen Elbæk, Birgit Alsbjerg, Albrecht Röpke.   

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Year:  2014        PMID： 25449292      PMCID： PMC4354179          DOI： 10.1007/s10815-014-0388-8

Source DB:  PubMed          Journal:  J Assist Reprod Genet        ISSN： 1058-0468            Impact factor:   3.412


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  23 in total

1.  EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. State of the art 2004.

Authors:  M Simoni; E Bakker; C Krausz
Journal:  Int J Androl       Date:  2004-08

2.  A simple salting out procedure for extracting DNA from human nucleated cells.

Authors:  S A Miller; D D Dykes; H F Polesky
Journal:  Nucleic Acids Res       Date:  1988-02-11       Impact factor: 16.971

3.  [Prenatal diagnosis of 3 cases of ring G chromosomes: one 21 and two 22, one of which was de novo].

Authors:  A Crusi; E Engel
Journal:  Ann Genet       Date:  1986

4.  Azoospermia in a man with a constitutional ring 22 chromosome.

Authors:  Daniela Zuccarello; Bruno Dallapiccola; Antonio Novelli; Carlo Foresta
Journal:  Eur J Med Genet       Date:  2010-08-10       Impact factor: 2.708

Review 5.  Azoospermia and paternal autosomal ring chromosomes: case report and literature review.

Authors:  Hemashree Rajesh; Mary-Louise Freckmann; Michael Chapman
Journal:  Reprod Biomed Online       Date:  2011-05-27       Impact factor: 3.828

6.  Update on Kleefstra Syndrome.

Authors:  M H Willemsen; A T Vulto-van Silfhout; W M Nillesen; W M Wissink-Lindhout; H van Bokhoven; N Philip; E M Berry-Kravis; U Kini; C M A van Ravenswaaij-Arts; B Delle Chiaie; A M M Innes; G Houge; T Kosonen; K Cremer; M Fannemel; A Stray-Pedersen; W Reardon; J Ignatius; K Lachlan; C Mircher; P T J M Helderman van den Enden; M Mastebroek; P E Cohn-Hokke; H G Yntema; S Drunat; T Kleefstra
Journal:  Mol Syndromol       Date:  2012-01-24

7.  Does "ring syndrome" exist? An analysis of 207 case reports on patients with a ring autosome.

Authors:  G Kosztolányi
Journal:  Hum Genet       Date:  1987-02       Impact factor: 4.132

Review 8.  Inherited ring chromosomes: an analysis of published cases.

Authors:  G Kosztolányi; K Méhes; E B Hook
Journal:  Hum Genet       Date:  1991-07       Impact factor: 4.132

9.  Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA.

Authors:  Michela Barbaro; Antonio Balsamo; Britt Marie Anderlid; Anne Grethe Myhre; Monia Gennari; Annalisa Nicoletti; Maria Carla Pittalis; Mikael Oscarson; Anna Wedell
Journal:  Eur J Hum Genet       Date:  2009-05-06       Impact factor: 4.246

10.  Copy number variants in patients with severe oligozoospermia and Sertoli-cell-only syndrome.

Authors:  Frank Tüttelmann; Manuela Simoni; Sabine Kliesch; Susanne Ledig; Bernd Dworniczak; Peter Wieacker; Albrecht Röpke
Journal:  PLoS One       Date:  2011-04-29       Impact factor: 3.240
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  2 in total

Review 1.  Ring chromosomes: from formation to clinical potential.

Authors:  Inna E Pristyazhnyuk; Aleksei G Menzorov
Journal:  Protoplasma       Date:  2017-09-12       Impact factor: 3.356

2.  Rheumatoid arthritis in an adult patient with mosaic distal 18q-, 18p- and ring chromosome 18.

Authors:  Alanna Chau; K H Ramesh; Anand D Jagannath; Shitij Arora
Journal:  F1000Res       Date:  2017-11-02
  2 in total

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