Literature DB >> 27019443

Two further triple-X/rea(X) females in an inv(X)(p22q22) family.

Horacio Rivera1, Ana I Vésquez-Velésquez, Maria G DomÍnguez-Quezada, Azubel RamÍrez-Velazco.   

Abstract

Mesh：

Year:  2016        PMID： 27019443     DOI： 10.1007/s12041-015-0596-8

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


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  15 in total

1.  De novo dup p/del q or dup q/del p rearranged chromosomes: review of 104 cases of a distinct chromosomal mutation.

Authors:  H Rivera; M G Domínguez; A I Vásquez-Velásquez; I W Lurie
Journal:  Cytogenet Genome Res       Date:  2013-05-30       Impact factor: 1.636

2.  A mother with variant Turner syndrome and two daughters with trisomy X: a case report.

Authors:  S Ramachandram; W T Keng; R Ariffin; V Ganesan
Journal:  J Genet       Date:  2013       Impact factor: 1.166

3.  A further rec(X)dup p and compilation of 23 cases. Comment on "molecular genetic and cytogenetic characterization of a partial Xp duplication and Xq deletion in a patient with premature ovarian failure" by Kim et al. Gene, 2014. http://dx.doi.org/10.1016/j.gene.2013.10.026.

Authors:  Azubel Ramírez-Velasco; Horacio Rivera
Journal:  Gene       Date:  2014-07-08       Impact factor: 3.688

4.  The incidence and etiology of sex chromosome abnormalities in man.

Authors:  P A Jacobs
Journal:  Birth Defects Orig Artic Ser       Date:  1979

5.  Premature centromere division: a mechanism of non-disjunction causing X chromosome aneuploidy in somatic cells of man.

Authors:  P H Fitzgerald; A F Pickering; J M Mercer; P M Miethke
Journal:  Ann Hum Genet       Date:  1975-05       Impact factor: 1.670

6.  A case of 46,X,der(X)(pter-->q21::p21-->pter) with gonadal dysgenesis, tall stature, and endometriosis.

Authors:  Y Nakamura; Y Suehiro; N Sugino; K Sasaki; H Kato
Journal:  Fertil Steril       Date:  2001-06       Impact factor: 7.329

Review 7.  Chromosomal variants in klinefelter syndrome.

Authors:  A Frühmesser; D Kotzot
Journal:  Sex Dev       Date:  2011-04-29       Impact factor: 1.824

8.  Structure and Barr body formation of an Xp + chromosome with two inactivation centers.

Authors:  R F Daly; K Patau; E Therman; G E Sarto
Journal:  Am J Hum Genet       Date:  1977-01       Impact factor: 11.025

Review 9.  A review of trisomy X (47,XXX).

Authors:  Nicole R Tartaglia; Susan Howell; Ashley Sutherland; Rebecca Wilson; Lennie Wilson
Journal:  Orphanet J Rare Dis       Date:  2010-05-11       Impact factor: 4.123

Review 10.  Unravelling the parental origin and mechanism of formation of the 47,XY,i(X)(q10) Klinefelter karyotype variant.

Authors:  Martina Höckner; Germar-Michael Pinggera; Barbara Günther; Consolato Sergi; Christine Fauth; Martin Erdel; Dieter Kotzot
Journal:  Fertil Steril       Date:  2008-08-06       Impact factor: 7.329
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  1 in total

1.  Williams-Beuren syndrome in Mexican patients confirmed by FISH and assessed by aCGH.

Authors:  Azubel Ramírez-Velazco; Thania Alejandra Aguayo-Orozco; Luis Figuera; Horacio Rivera; Luis Jave-Suárez; Adriana Aguilar-Lemarroy; Luis A Torres-Reyes; Carlos Córdova-Fletes; Patricio Barros-Núñez; Saturnino Delgadillo-Pérez; Ingrid Patricia Dávalos-Rodríguez; José Elías García-Ortiz; María G Domínguez
Journal:  J Genet       Date:  2019-06       Impact factor: 1.166
  1 in total

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