Literature DB >> 26739162

Confirming the candidacy of THOC6 in the etiology of intellectual disability.

Shamsa Anazi1, Muneera Alshammari2, Dorota Moneis1,3, Mohamed Abouelhoda1,3, Niema Ibrahim1, Fowzan S Alkuraya1,3,4.   

Abstract

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Year:  2016        PMID： 26739162     DOI： 10.1002/ajmg.a.37549

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  3 in total

1.  Expanding the genetic heterogeneity of intellectual disability.

Authors:  Shams Anazi; Sateesh Maddirevula; Vincenzo Salpietro; Yasmine T Asi; Saud Alsahli; Amal Alhashem; Hanan E Shamseldin; Fatema AlZahrani; Nisha Patel; Niema Ibrahim; Firdous M Abdulwahab; Mais Hashem; Nadia Alhashmi; Fathiya Al Murshedi; Adila Al Kindy; Ahmad Alshaer; Ahmed Rumayyan; Saeed Al Tala; Wesam Kurdi; Abdulaziz Alsaman; Ali Alasmari; Selina Banu; Tipu Sultan; Mohammed M Saleh; Hisham Alkuraya; Mustafa A Salih; Hesham Aldhalaan; Tawfeg Ben-Omran; Fatima Al Musafri; Rehab Ali; Jehan Suleiman; Brahim Tabarki; Ayman W El-Hattab; Caleb Bupp; Majid Alfadhel; Nada Al Tassan; Dorota Monies; Stefan T Arold; Mohamed Abouelhoda; Tammaryn Lashley; Henry Houlden; Eissa Faqeih; Fowzan S Alkuraya
Journal:  Hum Genet       Date:  2017-09-22       Impact factor: 4.132

2.  Structure of the human core transcription-export complex reveals a hub for multivalent interactions.

Authors:  Thomas Pühringer; Ulrich Hohmann; Laura Fin; Belén Pacheco-Fiallos; Ulla Schellhaas; Julius Brennecke; Clemens Plaschka
Journal:  Elife       Date:  2020-11-16       Impact factor: 8.140

3.  The first reported case of Beaulieu-Boycott-Innes syndrome caused by two novel mutations in THOC6 gene in a Chinese infant.

Authors:  Qiang Zhang; Shaoke Chen; Zailong Qin; Haiyang Zheng; Xin Fan
Journal:  Medicine (Baltimore)       Date:  2020-04       Impact factor: 1.817
  3 in total

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