Literature DB >> 19417550

SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Down's syndrome subjects with undescended testes.

Michele Salemi1, Corrado Romano, Concetta Barone, Francesco Calí, Filippo Caraci, Carmelo Romano, Cataldo Scavuzzo, Francesco Scillato, Maria Grazia Salluzzo, Maria Piccione, Manuela Martines, Giovanni Corsello, Ferdinando Nicoletti, Paolo Bosco.   

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Year:  2009        PMID: 19417550     DOI: 10.1007/s12041-009-0013-2

Source DB:  PubMed          Journal:  J Genet        ISSN: 0022-1333            Impact factor:   1.166


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  20 in total

1.  Segmental duplications and copy-number variation in the human genome.

Authors:  Andrew J Sharp; Devin P Locke; Sean D McGrath; Ze Cheng; Jeffrey A Bailey; Rhea U Vallente; Lisa M Pertz; Royden A Clark; Stuart Schwartz; Rick Segraves; Vanessa V Oseroff; Donna G Albertson; Daniel Pinkel; Evan E Eichler
Journal:  Am J Hum Genet       Date:  2005-05-25       Impact factor: 11.025

2.  Down's syndrome associated with seminoma in undescended testis.

Authors:  O Ichiyanagi; I Sasagawa; Y Kubota; H Yaguchi; Y Suzuki; T Nakada
Journal:  Scand J Urol Nephrol       Date:  1998-09

3.  A comparison of methods for gene dosage analysis in HMSN type 1.

Authors:  J S Rowland; D E Barton; G R Taylor
Journal:  J Med Genet       Date:  2001-02       Impact factor: 6.318

4.  Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).

Authors:  D A Koolen; W M Nillesen; M H A Versteeg; G F M Merkx; N V A M Knoers; M Kets; S Vermeer; C M A van Ravenswaaij; C G de Kovel; H G Brunner; D Smeets; B B A de Vries; E A Sistermans
Journal:  J Med Genet       Date:  2004-12       Impact factor: 6.318

5.  Dynamic structure of the SPANX gene cluster mapped to the prostate cancer susceptibility locus HPCX at Xq27.

Authors:  Natalay Kouprina; Adam Pavlicek; Vladimir N Noskov; Greg Solomon; John Otstot; William Isaacs; John D Carpten; Jeffrey M Trent; Joanna Schleutker; J Carl Barrett; Jerzy Jurka; Vladimir Larionov
Journal:  Genome Res       Date:  2005-11       Impact factor: 9.043

6.  Allele varepsilon4 of apolipoprotein E gene is less frequent in Down syndrome patient of the Sicilian population and has no influence on the grade of mental retardation.

Authors:  G Anello; J Guéant; C Romano; C Barone; R Pettinato; T Pillot; R Rodriguez; A Romano; P Bosco
Journal:  Neurosci Lett       Date:  2001-06-22       Impact factor: 3.046

7.  Spermatid-specific expression of the novel X-linked gene product SPAN-X localized to the nucleus of human spermatozoa.

Authors:  V A Westbrook; A B Diekman; K L Klotz; V V Khole; C von Kap-Herr; W L Golden; R L Eddy; T B Shows; M H Stoler; C Y Lee; C J Flickinger; J C Herr
Journal:  Biol Reprod       Date:  2000-08       Impact factor: 4.285

8.  Malignant potential of the cryptorchid testis.

Authors:  R C Benson; C M Beard; P P Kelalis; L T Kurland
Journal:  Mayo Clin Proc       Date:  1991-04       Impact factor: 7.616

9.  Incidence of cryptorchidism and ascending testes in trisomy 21: a 10 year retrospective review.

Authors:  Grace Chew; John M Hutson
Journal:  Pediatr Surg Int       Date:  2004-10       Impact factor: 1.827

10.  A new 6-bp SOX-3 polyalanine tract deletion does not segregate with mental retardation.

Authors:  Michele Salemi; Corrado Romano; Letizia Ragusa; Giuseppa Di Vita; Roberto Salluzzo; Ileana Oteri; Maria Luisa Trovato; Carmelo Romano; Filippo Caraci; Ferdinando Nicoletti; Paolo Bosco
Journal:  Genet Test       Date:  2007
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