Literature DB >> 16575895

Familial Klippel-Feil anomaly and t(5;8)(q35.1;p21.1) translocation.

Masahiro Goto, Gen Nishimura, Toshiro Nagai, Kazuki Yamazawa, Tsutomu Ogata.   

Abstract

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Year:  2006        PMID： 16575895     DOI： 10.1002/ajmg.a.31198

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


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  4 in total

1.  Hemp, an mbt domain-containing protein, plays essential roles in hematopoietic stem cell function and skeletal formation.

Authors:  Hiroaki Honda; Keiyo Takubo; Hideaki Oda; Kenjiro Kosaki; Tatsuya Tazaki; Norimasa Yamasaki; Kazuko Miyazaki; Kateri A Moore; Zen-ichiro Honda; Toshio Suda; Ihor R Lemischka
Journal:  Proc Natl Acad Sci U S A       Date:  2011-01-20       Impact factor: 11.205

2.  Specific entities affecting the craniocervical region: syndromes affecting the craniocervical junction.

Authors:  Arnold H Menezes; Timothy W Vogel
Journal:  Childs Nerv Syst       Date:  2008-03-28       Impact factor: 1.475

3.  A case report of amyotrophic lateral sclerosis in a patient with Klippel-Feil syndrome—a familial occurrence: a potential role of TGF-β signaling pathway.

Authors:  Zygmunt Jamrozik; Malgorzata Gawel; Katarzyna Szacka; Leopold Bakon
Journal:  Medicine (Baltimore)       Date:  2015-01       Impact factor: 1.889

4.  Otolaryngologic Manifestations of Klippel-Feil Syndrome in Children.

Authors:  Margaret A Kenna; Alexandria L Irace; Julie E Strychowsky; Kosuke Kawai; Devon Barrett; Juliana Manganella; Michael J Cunningham
Journal:  JAMA Otolaryngol Head Neck Surg       Date:  2018-03-01       Impact factor: 6.223
  4 in total

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