Literature DB >> 18042263

Sotos syndrome caused by a paracentric inversion disrupting the NSD1 gene.

V Malan, M C De Blois, M Prieur, M C Perrier-Waill, C Huguet-Nedjar, L Gegas, C Turleau, M Vekemans, A Munnich, S P Romana.   

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Year:  2007        PMID： 18042263     DOI： 10.1111/j.1399-0004.2007.00916.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  5 in total

1.  Sotos syndrome.

Authors:  R G Holla; A N Prasad
Journal:  Med J Armed Forces India       Date:  2011-08-07

2.  Clinical and molecular heterogeneity in brazilian patients with sotos syndrome.

Authors:  Gustavo H Vieira; Melissa M Cook; Renata L Ferreira De Lima; Carlos E Frigério Domingues; Daniel R de Carvalho; Isaias Soares de Paiva; Danilo Moretti-Ferreira; Anand K Srivastava
Journal:  Mol Syndromol       Date:  2015-01-21

3.  Efficient mutation screening for cervical cancers from circulating tumor DNA in blood.

Authors:  Sun-Young Lee; Dong-Kyu Chae; Sung-Hun Lee; Yohan Lim; Jahyun An; Chang Hoon Chae; Byung Chul Kim; Jong Bhak; Dan Bolser; Dong-Hyu Cho
Journal:  BMC Cancer       Date:  2020-07-27       Impact factor: 4.430

Review 4.  Systematics for types and effects of DNA variations.

Authors:  Mauno Vihinen
Journal:  BMC Genomics       Date:  2018-12-28       Impact factor: 3.969

5.  Correction of a Factor VIII genomic inversion with designer-recombinases.

Authors:  Felix Lansing; Liliya Mukhametzyanova; Teresa Rojo-Romanos; Kentaro Iwasawa; Masaki Kimura; Maciej Paszkowski-Rogacz; Janet Karpinski; Tobias Grass; Jan Sonntag; Paul Martin Schneider; Ceren Günes; Jenna Hoersten; Lukas Theo Schmitt; Natalia Rodriguez-Muela; Ralf Knöfler; Takanori Takebe; Frank Buchholz
Journal:  Nat Commun       Date:  2022-01-20       Impact factor: 14.919
  5 in total

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