Literature DB >> 12920084

De novo germline PTEN mutation in a man with Lhermitte-Duclos disease which arose on the paternal chromosome and was transmitted to his child with polydactyly and Wormian bones.

M B Delatycki, A Danks, A Churchyard, X-P Zhou, C Eng.   

Abstract

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Year:  2003        PMID： 12920084      PMCID： PMC1735566          DOI： 10.1136/jmg.40.8.e92

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


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  4 in total

1.  Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.

Authors:  Joseph D Buxbaum; Guiqing Cai; Pauline Chaste; Gudrun Nygren; Juliet Goldsmith; Jennifer Reichert; Henrik Anckarsäter; Maria Rastam; Christopher J Smith; Jeremy M Silverman; Eric Hollander; Marion Leboyer; Christopher Gillberg; Alain Verloes; Catalina Betancur
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2007-06-05       Impact factor: 3.568

2.  let-7 and miR-140 microRNAs coordinately regulate skeletal development.

Authors:  Garyfallia Papaioannou; Jennifer B Inloes; Yukio Nakamura; Elena Paltrinieri; Tatsuya Kobayashi
Journal:  Proc Natl Acad Sci U S A       Date:  2013-08-12       Impact factor: 11.205

3.  Cross-level analysis of molecular and neurobehavioral function in a prospective series of patients with germline heterozygous PTEN mutations with and without autism.

Authors:  Thomas W Frazier; Ritika Jaini; Robyn M Busch; Matthew Wolf; Tammy Sadler; Patricia Klaas; Antonio Y Hardan; Julian A Martinez-Agosto; Mustafa Sahin; Charis Eng
Journal:  Mol Autism       Date:  2021-01-28       Impact factor: 7.509

4.  Mitochondrial dysfunction in Pten haplo-insufficient mice with social deficits and repetitive behavior: interplay between Pten and p53.

Authors:  Eleonora Napoli; Catherine Ross-Inta; Sarah Wong; Connie Hung; Yasuko Fujisawa; Danielle Sakaguchi; James Angelastro; Alicja Omanska-Klusek; Robert Schoenfeld; Cecilia Giulivi
Journal:  PLoS One       Date:  2012-08-10       Impact factor: 3.240
  4 in total

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