Literature DB >> 16703153

Turner syndrome: an update and review for the primary pediatrician.

Brandy H Doswell1, Jeannie Visootsak, April N Brady, John M Graham.   

Abstract

Turner syndrome (TS) is among the most common of the sex chromosomal aneuploidies. It results from the absence of one sex chromosome (or part of an X chromosome) in a female, leaving only one X chromosome present in the cell. Primary care physicians should be able to recognize the presenting signs and symptoms of TS, and once the diagnosis is confirmed by a chromosome analysis, they should be able to serve as a valuable source of support for the patient and her family and understand the most current treatments available.

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Year:  2006        PMID: 16703153     DOI: 10.1177/000992280604500402

Source DB:  PubMed          Journal:  Clin Pediatr (Phila)        ISSN: 0009-9228            Impact factor:   1.168


  3 in total

1.  Turner syndrome in diverse populations.

Authors:  Paul Kruszka; Yonit A Addissie; Cedrik Tekendo-Ngongang; Kelly L Jones; Sarah K Savage; Neerja Gupta; Nirmala D Sirisena; Vajira H W Dissanayake; C Sampath Paththinige; Teresa Aravena; Sheela Nampoothiri; Dhanya Yesodharan; Katta M Girisha; Siddaramappa Jagdish Patil; Saumya Shekhar Jamuar; Jasmine Chew-Yin Goh; Agustini Utari; Nydia Sihombing; Rupesh Mishra; Neer Shoba Chitrakar; Brenda C Iriele; Ezana Lulseged; Andre Megarbane; Annette Uwineza; Elizabeth Eberechi Oyenusi; Oluwarotimi Bolaji Olopade; Olufemi Adetola Fasanmade; Milagros M Duenas-Roque; Meow-Keong Thong; Joanna Y L Tung; Gary T K Mok; Nicole Fleischer; Godfrey M Rwegerera; María Beatriz de Herreros; Johnathan Watts; Karen Fieggen; Victoria Huckstadt; Angélica Moresco; María Gabriela Obregon; Dalia Farouk Hussen; Neveen A Ashaat; Engy A Ashaat; Brian H Y Chung; Eben Badoe; Sultana M H Faradz; Mona O El Ruby; Vorasuk Shotelersuk; Ambroise Wonkam; Ekanem Nsikak Ekure; Shubha R Phadke; Antonio Richieri-Costa; Maximilian Muenke
Journal:  Am J Med Genet A       Date:  2019-12-19       Impact factor: 2.802

2.  Turner Syndrome with Isochromosome Xq and Familial Reciprocal Translocation t(4;16)(p15.2;p13.1).

Authors:  Z Cetin; I Mendilcioglu; S Yakut; S Berker-Karauzum; B Karaman; G Luleci
Journal:  Balkan J Med Genet       Date:  2011-06       Impact factor: 0.519

Review 3.  Cardiac Involvement in Dystrophin-Deficient Females: Current Understanding and Implications for the Treatment of Dystrophinopathies.

Authors:  Kenji Rowel Q Lim; Narin Sheri; Quynh Nguyen; Toshifumi Yokota
Journal:  Genes (Basel)       Date:  2020-07-08       Impact factor: 4.096

  3 in total

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