Literature DB >> 24105370

Clinical utility gene card for: 16p13.11 microdeletion syndrome.

Maria Tropeano1, Joris Andrieux2, David A Collier3.   

Abstract

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Year:  2013        PMID： 24105370      PMCID： PMC3992581          DOI： 10.1038/ejhg.2013.230

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  21 in total

1.  Detection of large-scale variation in the human genome.

Authors:  A John Iafrate; Lars Feuk; Miguel N Rivera; Marc L Listewnik; Patricia K Donahoe; Ying Qi; Stephen W Scherer; Charles Lee
Journal:  Nat Genet       Date:  2004-08-01       Impact factor: 38.330

2.  The sequence and analysis of duplication-rich human chromosome 16.

Authors:  Joel Martin; Cliff Han; Laurie A Gordon; Astrid Terry; Shyam Prabhakar; Xinwei She; Gary Xie; Uffe Hellsten; Yee Man Chan; Michael Altherr; Olivier Couronne; Andrea Aerts; Eva Bajorek; Stacey Black; Heather Blumer; Elbert Branscomb; Nancy C Brown; William J Bruno; Judith M Buckingham; David F Callen; Connie S Campbell; Mary L Campbell; Evelyn W Campbell; Chenier Caoile; Jean F Challacombe; Leslie A Chasteen; Olga Chertkov; Han C Chi; Mari Christensen; Lynn M Clark; Judith D Cohn; Mirian Denys; John C Detter; Mark Dickson; Mira Dimitrijevic-Bussod; Julio Escobar; Joseph J Fawcett; Dave Flowers; Dea Fotopulos; Tijana Glavina; Maria Gomez; Eidelyn Gonzales; David Goodstein; Lynne A Goodwin; Deborah L Grady; Igor Grigoriev; Matthew Groza; Nancy Hammon; Trevor Hawkins; Lauren Haydu; Carl E Hildebrand; Wayne Huang; Sanjay Israni; Jamie Jett; Phillip B Jewett; Kristen Kadner; Heather Kimball; Arthur Kobayashi; Marie-Claude Krawczyk; Tina Leyba; Jonathan L Longmire; Frederick Lopez; Yunian Lou; Steve Lowry; Thom Ludeman; Chitra F Manohar; Graham A Mark; Kimberly L McMurray; Linda J Meincke; Jenna Morgan; Robert K Moyzis; Mark O Mundt; A Christine Munk; Richard D Nandkeshwar; Sam Pitluck; Martin Pollard; Paul Predki; Beverly Parson-Quintana; Lucia Ramirez; Sam Rash; James Retterer; Darryl O Ricke; Donna L Robinson; Alex Rodriguez; Asaf Salamov; Elizabeth H Saunders; Duncan Scott; Timothy Shough; Raymond L Stallings; Malinda Stalvey; Robert D Sutherland; Roxanne Tapia; Judith G Tesmer; Nina Thayer; Linda S Thompson; Hope Tice; David C Torney; Mary Tran-Gyamfi; Ming Tsai; Levy E Ulanovsky; Anna Ustaszewska; Nu Vo; P Scott White; Albert L Williams; Patricia L Wills; Jung-Rung Wu; Kevin Wu; Joan Yang; Pieter Dejong; David Bruce; Norman A Doggett; Larry Deaven; Jeremy Schmutz; Jane Grimwood; Paul Richardson; Daniel S Rokhsar; Evan E Eichler; Paul Gilna; Susan M Lucas; Richard M Myers; Edward M Rubin; Len A Pennacchio
Journal:  Nature       Date:  2004-12-23       Impact factor: 49.962

3.  De novo 16p13.11 microdeletion identified by high-resolution array CGH in a fetus with increased nuchal translucency.

Authors:  L W Law; T K Lau; T Y Fung; T Y Leung; C C Wang; K W Choy
Journal:  BJOG       Date:  2008-11-11       Impact factor: 6.531

4.  High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

Authors:  Tamim H Shaikh; Xiaowu Gai; Juan C Perin; Joseph T Glessner; Hongbo Xie; Kevin Murphy; Ryan O'Hara; Tracy Casalunovo; Laura K Conlin; Monica D'Arcy; Edward C Frackelton; Elizabeth A Geiger; Chad Haldeman-Englert; Marcin Imielinski; Cecilia E Kim; Livija Medne; Kiran Annaiah; Jonathan P Bradfield; Elvira Dabaghyan; Andrew Eckert; Chioma C Onyiah; Svetlana Ostapenko; F George Otieno; Erin Santa; Julie L Shaner; Robert Skraban; Ryan M Smith; Josephine Elia; Elizabeth Goldmuntz; Nancy B Spinner; Elaine H Zackai; Rosetta M Chiavacci; Robert Grundmeier; Eric F Rappaport; Struan F A Grant; Peter S White; Hakon Hakonarson
Journal:  Genome Res       Date:  2009-07-10       Impact factor: 9.043

5.  Altered activity, social behavior, and spatial memory in mice lacking the NTAN1p amidase and the asparagine branch of the N-end rule pathway.

Authors:  Y T Kwon; S A Balogh; I V Davydov; A S Kashina; J K Yoon; Y Xie; A Gaur; L Hyde; V H Denenberg; A Varshavsky
Journal:  Mol Cell Biol       Date:  2000-06       Impact factor: 4.272

6.  Facilitated stimulus-response associative learning and long-term memory in mice lacking the NTAN1 amidase of the N-end rule pathway.

Authors:  S A Balogh; C S McDowell; Y Tae Kwon; V H Denenberg
Journal:  Brain Res       Date:  2001-02-23       Impact factor: 3.252

7.  Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation.

Authors:  Reinhard Ullmann; Gillian Turner; Maria Kirchhoff; Wei Chen; Bruce Tonge; Carla Rosenberg; Michael Field; Angela M Vianna-Morgante; Louise Christie; Ana C Krepischi-Santos; Lynn Banna; Avril V Brereton; Alyssa Hill; Anne-Marie Bisgaard; Ines Müller; Claus Hultschig; Fikret Erdogan; Georg Wieczorek; H Hilger Ropers
Journal:  Hum Mutat       Date:  2007-07       Impact factor: 4.878

8.  Mitotic spindle regulation by Nde1 controls cerebral cortical size.

Authors:  Yuanyi Feng; Christopher A Walsh
Journal:  Neuron       Date:  2004-10-14       Impact factor: 17.173

9.  DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

Authors:  Helen V Firth; Shola M Richards; A Paul Bevan; Stephen Clayton; Manuel Corpas; Diana Rajan; Steven Van Vooren; Yves Moreau; Roger M Pettett; Nigel P Carter
Journal:  Am J Hum Genet       Date:  2009-04-02       Impact factor: 11.025

10.  Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.

Authors:  F D Hannes; A J Sharp; H C Mefford; T de Ravel; C A Ruivenkamp; M H Breuning; J-P Fryns; K Devriendt; G Van Buggenhout; A Vogels; H Stewart; R C Hennekam; G M Cooper; R Regan; S J L Knight; E E Eichler; J R Vermeesch
Journal:  J Med Genet       Date:  2008-06-11       Impact factor: 6.318
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  4 in total

1.  Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study.

Authors:  Jianqiao Li; Margaret A Hojlo; Joseph Gonzalez-Heydrich; Catherine A Brownstein; Sampath Chennuri; Nitin Gujral; Heather L Paterson; Kent A Shefchek; Casie A Genetti; Emily L Cohn; Kara C Sewalk; Emily A Garvey; Elizabeth D Buttermore; Nickesha C Anderson; Alan H Beggs; Pankaj B Agrawal; John S Brownstein; Melissa A Haendel; Ingrid A Holm
Journal:  J Med Internet Res       Date:  2021-03-16       Impact factor: 5.428

2.  Whole Exome Sequencing in 16p13.11 Microdeletion Patients Reveals New Variants Through Deductive and Systems Medicine Approaches.

Authors:  Paola Granata; Dario Cocciadiferro; Alessandra Zito; Chiara Pessina; Alessandro Bassani; Fabio Zambonin; Antonio Novelli; Mauro Fasano; Rosario Casalone
Journal:  Front Genet       Date:  2022-03-15       Impact factor: 4.599

3.  Early-onset ophthalmoplegia, cervical dyskinesia, and lower extremity weakness due to partial deletion of chromosome 16: A case report.

Authors:  Min Xu; Jiao Jiang; Yan He; Wei-Yue Gu; Bo Jin
Journal:  World J Clin Cases       Date:  2022-09-16       Impact factor: 1.534

4.  A chromosome 16p13.11 microduplication causes hyperactivity through dysregulation of miR-484/protocadherin-19 signaling.

Authors:  M Fujitani; S Zhang; R Fujiki; Y Fujihara; T Yamashita
Journal:  Mol Psychiatry       Date:  2016-07-05       Impact factor: 15.992
  4 in total

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