Literature DB >> 22071885

Xq;autosome translocation in POF: Xq27.2 deletion resulting in haploinsufficiency for SPANX.

Wendy S Vitek1, Kelly Pagidas, Guangyu Gu, John R Pepperell, Joe Leigh Simpson, Umadevi Tantravahi, Beth J Plante.   

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Year:  2011        PMID: 22071885      PMCID: PMC3252405          DOI: 10.1007/s10815-011-9653-2

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


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  11 in total

1.  Molecular cytogenetic definition of a translocation t(X;15) associated with premature ovarian failure.

Authors:  Veronica Bertini; Paolo Ghirri; Maria Patrizia Bicocchi; Paolo Simi; Angelo Valetto
Journal:  Fertil Steril       Date:  2010-03-24       Impact factor: 7.329

2.  Hominoid-specific SPANXA/D genes demonstrate differential expression in individuals and protein localization to a distinct nuclear envelope domain during spermatid morphogenesis.

Authors:  V A Westbrook; P D Schoppee; G R Vanage; K L Klotz; A B Diekman; C J Flickinger; M A Coppola; J C Herr
Journal:  Mol Hum Reprod       Date:  2006-09-29       Impact factor: 4.025

3.  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

4.  Deletion (X)(q26.1-->q28) in a proband and her mother: molecular characterization and phenotypic-karyotypic deductions.

Authors:  A T Tharapel; K P Anderson; J L Simpson; P R Martens; R S Wilroy; J C Llerena; C E Schwartz
Journal:  Am J Hum Genet       Date:  1993-03       Impact factor: 11.025

5.  Cryptic Xp duplication including the SHOX gene in a woman with 46,X, del(X)(q21.31) and premature ovarian failure.

Authors:  Gérard Tachdjian; Azzedine Aboura; Marie-France Portnoï; Maud Pasquier; Nathalie Bourcigaux; Tabassome Simon; Ghislaine Rousseau; Lina Finkel; Moncef Benkhalifa; Sophie Christin-Maitre
Journal:  Hum Reprod       Date:  2007-11-01       Impact factor: 6.918

6.  The G-banded prophase chromosomes of man.

Authors:  J J Yunis; O Sanchez
Journal:  Humangenetik       Date:  1975

Review 7.  Molecular and cytogenetic studies of an X;autosome translocation in a patient with premature ovarian failure and review of the literature.

Authors:  C M Powell; R T Taggart; T C Drumheller; D Wangsa; C Qian; L M Nelson; B J White
Journal:  Am J Med Genet       Date:  1994-08-01

8.  The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis.

Authors:  E Therman; B Susman
Journal:  Hum Genet       Date:  1990-07       Impact factor: 4.132

Review 9.  Premature ovarian failure.

Authors:  Robert W Rebar
Journal:  Obstet Gynecol       Date:  2009-06       Impact factor: 7.661

Review 10.  Clinical practice. Primary ovarian insufficiency.

Authors:  Lawrence M Nelson
Journal:  N Engl J Med       Date:  2009-02-05       Impact factor: 91.245

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  4 in total

1.  Exclusion of the 750-kb genetically unstable region at Xq27 as a candidate locus for prostate malignancy in HPCX1-linked families.

Authors:  Natalay Kouprina; Nicholas C O Lee; Adam Pavlicek; Alexander Samoshkin; Jung-Hyun Kim; Hee-Sheung Lee; Sudhir Varma; William C Reinhold; John Otstot; Greg Solomon; Sean Davis; Paul S Meltzer; Johanna Schleutker; Vladimir Larionov
Journal:  Genes Chromosomes Cancer       Date:  2012-06-26       Impact factor: 5.006

2.  Molecular and cytogenetic characterization of two patients with recurrent miscarriages and X-autosome translocation.

Authors:  Usha R Dutta; Vijaya Kumar Pidugu; Ashwin B Dalal
Journal:  J Res Med Sci       Date:  2012-06       Impact factor: 1.852

3.  A Rare De Novo Balanced X; 1 Translocation in an Indian Female with Primary Amenorrhea.

Authors:  Ananthapur Venkateshwari; Avvari Srilekha; Koka Veena; Madireddy Sujatha; Akka Jyothy
Journal:  J Reprod Infertil       Date:  2015 Jul-Sep

4.  Foreign body embedded in the lower esophageal wall located by endoscopic ultrasonography: A case report.

Authors:  Li Cao; Nianjun Chen; Yao Chen; Min Zhang; Qiaozhen Guo; Qian Chen; Bin Cheng
Journal:  Medicine (Baltimore)       Date:  2018-06       Impact factor: 1.889

  4 in total

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