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Literature DB >> 31531803

A De Novo Variant Identified in the PPP2R1A Gene in an Infant Induces Neurodevelopmental Abnormalities.

Yanghui Zhang¹, Haoxian Li¹, Hua Wang¹, Zhengjun Jia¹, Hui Xi¹, Xiao Mao².

Abstract

Entities: Disease Gene Species

Mesh：

Substances：

Year: 2019 PMID： 31531803 PMCID： PMC6977796 DOI： 10.1007/s12264-019-00430-4

Source DB: PubMed Journal: Neurosci Bull ISSN： 1995-8218 Impact factor: 5.203

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12 in total

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3. Clinical Application of Chromosome Microarray Analysis in Han Chinese Children with Neurodevelopmental Disorders.

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4. 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

5. Subtype-specific mutation of PPP2R1A in endometrial and ovarian carcinomas.

Authors: Melissa K McConechy; Michael S Anglesio; Steve E Kalloger; Winnie Yang; Janine Senz; Christine Chow; Alireza Heravi-Moussavi; Gregg B Morin; Anne-Marie Mes-Masson; Mark S Carey; Jessica N McAlpine; Janice S Kwon; Leah M Prentice; Niki Boyd; Sohrab P Shah; C Blake Gilks; David G Huntsman
Journal: J Pathol Date: 2011-03-07 Impact factor: 7.996

6. B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.

Authors: Gunnar Houge; Dorien Haesen; Lisenka E L M Vissers; Sarju Mehta; Michael J Parker; Michael Wright; Julie Vogt; Shane McKee; John L Tolmie; Nuno Cordeiro; Tjitske Kleefstra; Marjolein H Willemsen; Margot R F Reijnders; Siren Berland; Eli Hayman; Eli Lahat; Eva H Brilstra; Koen L I van Gassen; Evelien Zonneveld-Huijssoon; Charlotte I de Bie; Alexander Hoischen; Evan E Eichler; Rita Holdhus; Vidar M Steen; Stein Ove Døskeland; Matthew E Hurles; David R FitzPatrick; Veerle Janssens
Journal: J Clin Invest Date: 2015-07-13 Impact factor: 14.808

Review 7. Determinants of mutation rate variation in the human germline.

Authors: Laure Ségurel; Minyoung J Wyman; Molly Przeworski
Journal: Annu Rev Genomics Hum Genet Date: 2014-06-05 Impact factor: 8.929

8. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Authors: Fadi F Hamdan; Candace T Myers; Patrick Cossette; Philippe Lemay; Dan Spiegelman; Alexandre Dionne Laporte; Christina Nassif; Ousmane Diallo; Jean Monlong; Maxime Cadieux-Dion; Sylvia Dobrzeniecka; Caroline Meloche; Kyle Retterer; Megan T Cho; Jill A Rosenfeld; Weimin Bi; Christine Massicotte; Marguerite Miguet; Ledia Brunga; Brigid M Regan; Kelly Mo; Cory Tam; Amy Schneider; Georgie Hollingsworth; David R FitzPatrick; Alan Donaldson; Natalie Canham; Edward Blair; Bronwyn Kerr; Andrew E Fry; Rhys H Thomas; Joss Shelagh; Jane A Hurst; Helen Brittain; Moira Blyth; Robert Roger Lebel; Erica H Gerkes; Laura Davis-Keppen; Quinn Stein; Wendy K Chung; Sara J Dorison; Paul J Benke; Emily Fassi; Nicole Corsten-Janssen; Erik-Jan Kamsteeg; Frederic T Mau-Them; Ange-Line Bruel; Alain Verloes; Katrin Õunap; Monica H Wojcik; Dara V F Albert; Sunita Venkateswaran; Tyson Ware; Dean Jones; Yu-Chi Liu; Shekeeb S Mohammad; Peyman Bizargity; Carlos A Bacino; Vincenzo Leuzzi; Simone Martinelli; Bruno Dallapiccola; Marco Tartaglia; Lubov Blumkin; Klaas J Wierenga; Gabriela Purcarin; James J O'Byrne; Sylvia Stockler; Anna Lehman; Boris Keren; Marie-Christine Nougues; Cyril Mignot; Stéphane Auvin; Caroline Nava; Susan M Hiatt; Martina Bebin; Yunru Shao; Fernando Scaglia; Seema R Lalani; Richard E Frye; Imad T Jarjour; Stéphanie Jacques; Renee-Myriam Boucher; Emilie Riou; Myriam Srour; Lionel Carmant; Anne Lortie; Philippe Major; Paola Diadori; François Dubeau; Guy D'Anjou; Guillaume Bourque; Samuel F Berkovic; Lynette G Sadleir; Philippe M Campeau; Zoha Kibar; Ronald G Lafrenière; Simon L Girard; Saadet Mercimek-Mahmutoglu; Cyrus Boelman; Guy A Rouleau; Ingrid E Scheffer; Heather C Mefford; Danielle M Andrade; Elsa Rossignol; Berge A Minassian; Jacques L Michaud
Journal: Am J Hum Genet Date: 2017-11-02 Impact factor: 11.025

9. Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.

Authors: Jun-Ling Wang; Li Cao; Xun-Hua Li; Zheng-Mao Hu; Jia-Da Li; Jian-Guo Zhang; Yu Liang; Nan Li; Su-Qin Chen; Ji-Feng Guo; Hong Jiang; Lu Shen; Lan Zheng; Xiao Mao; Wei-Qian Yan; Ying Zhou; Yu-Ting Shi; San-Xi Ai; Mei-Zhi Dai; Peng Zhang; Kun Xia; Sheng-Di Chen; Bei-Sha Tang
Journal: Brain Date: 2011-11-26 Impact factor: 13.501

10. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors: Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal: Genet Med Date: 2015-03-05 Impact factor: 8.822

3 in total