Literature DB >> 25900767

FBXO28 is a critical gene of the 1q41q42 microdeletion syndrome.

Matteo Cassina1, Chiara Rigon1, Alberto Casarin1, Virginia Vicenzi1, Leonardo Salviati1, Maurizio Clementi1.   

Abstract

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Year:  2015        PMID: 25900767     DOI: 10.1002/ajmg.a.37033

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


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  7 in total

1.  WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.

Authors:  Cara M Skraban; Constance F Wells; Preetha Markose; Megan T Cho; Addie I Nesbitt; P Y Billie Au; Amber Begtrup; John A Bernat; Lynne M Bird; Kajia Cao; Arjan P M de Brouwer; Elizabeth H Denenberg; Ganka Douglas; Kristin M Gibson; Katheryn Grand; Alice Goldenberg; A Micheil Innes; Jane Juusola; Marlies Kempers; Esther Kinning; David M Markie; Martina M Owens; Katelyn Payne; Richard Person; Rolph Pfundt; Amber Stocco; Claire L S Turner; Nienke E Verbeek; Laurence E Walsh; Taylor C Warner; Patricia G Wheeler; Dagmar Wieczorek; Alisha B Wilkens; Evelien Zonneveld-Huijssoon; Tjitske Kleefstra; Stephen P Robertson; Avni Santani; Koen L I van Gassen; Matthew A Deardorff
Journal:  Am J Hum Genet       Date:  2017-07-06       Impact factor: 11.025

2.  Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.

Authors:  Sarah E M Stephenson; Gregory Costain; Laura E R Blok; Michael A Silk; Thanh Binh Nguyen; Xiaomin Dong; Dana E Alhuzaimi; James J Dowling; Susan Walker; Kimberly Amburgey; Robin Z Hayeems; Lance H Rodan; Marc A Schwartz; Jonathan Picker; Sally A Lynch; Aditi Gupta; Kristen J Rasmussen; Lisa A Schimmenti; Eric W Klee; Zhiyv Niu; Katherine E Agre; Ilana Chilton; Wendy K Chung; Anya Revah-Politi; P Y Billie Au; Christopher Griffith; Melissa Racobaldo; Annick Raas-Rothschild; Bruria Ben Zeev; Ortal Barel; Sebastien Moutton; Fanny Morice-Picard; Virginie Carmignac; Jenny Cornaton; Nathalie Marle; Orrin Devinsky; Chandler Stimach; Stephanie Burns Wechsler; Bryan E Hainline; Katie Sapp; Marjolaine Willems; Ange-Line Bruel; Kerith-Rae Dias; Carey-Anne Evans; Tony Roscioli; Rani Sachdev; Suzanna E L Temple; Ying Zhu; Joshua J Baker; Ingrid E Scheffer; Fiona J Gardiner; Amy L Schneider; Alison M Muir; Heather C Mefford; Amy Crunk; Elizabeth M Heise; Francisca Millan; Kristin G Monaghan; Richard Person; Lindsay Rhodes; Sarah Richards; Ingrid M Wentzensen; Benjamin Cogné; Bertrand Isidor; Mathilde Nizon; Marie Vincent; Thomas Besnard; Amelie Piton; Carlo Marcelis; Kohji Kato; Norihisa Koyama; Tomoo Ogi; Elaine Suk-Ying Goh; Christopher Richmond; David J Amor; Jessica O Boyce; Angela T Morgan; Michael S Hildebrand; Antony Kaspi; Melanie Bahlo; Rún Friðriksdóttir; Hildigunnur Katrínardóttir; Patrick Sulem; Kári Stefánsson; Hans Tómas Björnsson; Simone Mandelstam; Manuela Morleo; Milena Mariani; Marcello Scala; Andrea Accogli; Annalaura Torella; Valeria Capra; Mathew Wallis; Sandra Jansen; Quinten Weisfisz; Hugoline de Haan; Simon Sadedin; Sze Chern Lim; Susan M White; David B Ascher; Annette Schenck; Paul J Lockhart; John Christodoulou; Tiong Yang Tan
Journal:  Am J Hum Genet       Date:  2022-04-07       Impact factor: 11.043

3.  Two Novel Variants of WDR26 in Chinese Patients with Intellectual Disability.

Authors:  Jiacheng Hu; Mingming Xu; Xiaobo Zhu; Yu Zhang
Journal:  Genes (Basel)       Date:  2022-05-02       Impact factor: 4.141

4.  Psychomotor retardation with a 1q42.11-q42.12 deletion.

Authors:  Jialing He; Yingjun Xie; Shu Kong; Wenjun Qiu; Xiaoman Wang; Ding Wang; Xiaofang Sun; Deming Sun
Journal:  Hereditas       Date:  2017-03-06       Impact factor: 3.271

5.  [Application of single nucleotide polymorphism microarray in clinical diagnosis of intellectual disability or retardation].

Authors:  Junjie Hu; Yeqing Qian; Yixi Sun; Jialing Yu; Yuqin Luo; Minyue Dong
Journal:  Zhejiang Da Xue Xue Bao Yi Xue Ban       Date:  2019-06-25

6.  ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome.

Authors:  J Zak; V Vives; D Szumska; A Vernet; J E Schneider; P Miller; E A Slee; S Joss; Y Lacassie; E Chen; L F Escobar; M Tucker; A S Aylsworth; H A Dubbs; A T Collins; J Andrieux; A Dieux-Coeslier; E Haberlandt; D Kotzot; D A Scott; M J Parker; Z Zakaria; Y S Choy; D Wieczorek; A M Innes; K R Jun; S Zinner; F Prin; C A Lygate; P Pretorius; J A Rosenfeld; T J Mohun; X Lu
Journal:  Cell Death Differ       Date:  2016-07-22       Impact factor: 15.828

7.  The Complement Regulator Susd4 Influences Nervous-System Function and Neuronal Morphology in Mice.

Authors:  Hongling Zhu; Laura E Meissner; Colleen Byrnes; Galina Tuymetova; Cynthia J Tifft; Richard L Proia
Journal:  iScience       Date:  2020-02-28
  7 in total

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