Literature DB >> 14729841

Isolated Robin sequence associated with a balanced t(2;17) chromosomal translocation.

N Jamshidi, I Macciocca, P A Dargaville, P Thomas, N Kilpatrick, R J McKinlay Gardner, P G Farlie.   

Abstract

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Year:  2004        PMID： 14729841      PMCID： PMC1757243          DOI： 10.1136/jmg.2003.010157

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  8 in total

1.  Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter.

Authors:  Marta Smyk; Przemyslaw Szafranski; Michał Startek; Anna Gambin; Paweł Stankiewicz
Journal:  Chromosome Res       Date:  2013-11-20       Impact factor: 5.239

2.  Clinical and Molecular Characterisation of Children with Pierre Robin Sequence and Additional Anomalies.

Authors:  Jessie X Xu; Nicky Kilpatrick; Naomi L Baker; Anthony Penington; Peter G Farlie; Tiong Yang Tan
Journal:  Mol Syndromol       Date:  2016-09-15

3.  Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia.

Authors:  Gopalrao V N Velagaleti; Gabriel A Bien-Willner; Jill K Northup; Lillian H Lockhart; Judy C Hawkins; Syed M Jalal; Marjorie Withers; James R Lupski; Pawel Stankiewicz
Journal:  Am J Hum Genet       Date:  2005-02-22       Impact factor: 11.025

Review 4.  Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences.

Authors:  Shipra Bhatia; Dirk A Kleinjan
Journal:  Hum Genet       Date:  2014-02-05       Impact factor: 4.132

5.  Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.

Authors:  Sabina Benko; Judy A Fantes; Jeanne Amiel; Dirk-Jan Kleinjan; Sophie Thomas; Jacqueline Ramsay; Negar Jamshidi; Abdelkader Essafi; Simon Heaney; Christopher T Gordon; David McBride; Christelle Golzio; Malcolm Fisher; Paul Perry; Véronique Abadie; Carmen Ayuso; Muriel Holder-Espinasse; Nicky Kilpatrick; Melissa M Lees; Arnaud Picard; I Karen Temple; Paul Thomas; Marie-Paule Vazquez; Michel Vekemans; Hugues Roest Crollius; Nicholas D Hastie; Arnold Munnich; Heather C Etchevers; Anna Pelet; Peter G Farlie; David R Fitzpatrick; Stanislas Lyonnet
Journal:  Nat Genet       Date:  2009-02-22       Impact factor: 38.330

6.  Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2.

Authors:  Linda P Jakobsen; Reinhard Ullmann; Steen B Christensen; Karl Erik Jensen; Kirsten Mølsted; Karen F Henriksen; Claus Hansen; Mary A Knudsen; Lars A Larsen; Niels Tommerup; Zeynep Tümer
Journal:  J Med Genet       Date:  2007-06       Impact factor: 6.318

7.  Role of SOX9 in the Etiology of Pierre-Robin Syndrome.

Authors:  Selvi R; Mukunda Priyanka A
Journal:  Iran J Basic Med Sci       Date:  2013-05       Impact factor: 2.699

8.  A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of SOX9.

Authors:  Prince Antwi; Christopher S Hong; Daniel Duran; Sheng Chih Jin; Weilai Dong; Michael DiLuna; Kristopher T Kahle
Journal:  Cold Spring Harb Mol Case Stud       Date:  2018-06-01
  8 in total

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