Literature DB >> 21567920

Obesity in pycnodysostosis due to UPD1: possible effect of an imprinted gene on chromosome 1.

Debora Bertola1, Meire Aguena, Guilherme Yamamoto, Chong Ae Kim, Maria Rita Passos-Bueno.   

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Year:  2011        PMID： 21567920     DOI： 10.1002/ajmg.a.33989

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


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  3 in total

1.  Case Report: Genetic and Clinical Features of Maternal Uniparental Isodisomy-Induced Thiamine-Responsive Megaloblastic Anemia Syndrome.

Authors:  Pengjiang Kang; Weihua Zhang; Jinquan Wen; Jiming Zhang; Fei Li; Wuxia Sun
Journal:  Front Pediatr       Date:  2021-03-19       Impact factor: 3.418

2.  Genetic and Molecular Evaluation: Reporting Three Novel Mutations and Creating Awareness of Pycnodysostosis Disease.

Authors:  Khalda Sayed Amr; Hala T El-Bassyouni; Sawsan Abdel Hady; Mostafa I Mostafa; Mennat I Mehrez; Domenico Coviello; Ghada Y El-Kamah
Journal:  Genes (Basel)       Date:  2021-09-29       Impact factor: 4.096

3.  Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients.

Authors:  Lei Wang; Pengfei Liu; Weimin Bi; Teresa Sim; Xia Wang; Magdalene Walkiewicz; Magalie Sophie Leduc; Linyan Meng; Fan Xia; Christine M Eng; Yaping Yang; Bo Yuan; Hongzheng Dai
Journal:  Mol Genet Genomic Med       Date:  2021-09-29       Impact factor: 2.183
  3 in total

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