Literature DB >> 16419134

Cleidocranial dysplasia plus vascular anomalies with 6p21.2 microdeletion spanning RUNX2 and VEGF.

Kosuke Izumi, Naohisa Yahagi, Yasushi Fujii, Masataka Higuchi, Rika Kosaki, Yoko Naito, Gen Nishimura, Noboru Hosokai, Takao Takahashi, Kenjiro Kosaki.   

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Year:  2006        PMID: 16419134     DOI: 10.1002/ajmg.a.31061

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


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  9 in total

1.  Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2.

Authors:  Areeg H El-Gharbawy; Joseph N Peeden; Ralph S Lachman; John M Graham; Stephen R Moore; David L Rimoin
Journal:  Am J Med Genet A       Date:  2010-01       Impact factor: 2.802

2.  Surgical Management and Evaluation of the Craniofacial Growth and Morphology in Cleidocranial Dysplasia.

Authors:  Stephen L Greene; Chung How Kau; Somsak Sittitavornwong; Kathlyn Powell; Noel K Childers; Mary MacDougall; Ejvis Lamani
Journal:  J Craniofac Surg       Date:  2018-06       Impact factor: 1.046

Review 3.  Molecular genetics of supernumerary tooth formation.

Authors:  Xiu-Ping Wang; Jiabing Fan
Journal:  Genesis       Date:  2011-04-01       Impact factor: 2.487

4.  RUNX2 mutations in Chinese patients with cleidocranial dysplasia.

Authors:  Yalin Li; Wei Pan; Wanfeng Xu; Nan He; Xuewu Chen; Hong Liu; L Darryl Quarles; Honghao Zhou; Zhousheng Xiao
Journal:  Mutagenesis       Date:  2009-06-10       Impact factor: 3.000

5.  Intragenic microdeletion of RUNX2 is a novel mechanism for cleidocranial dysplasia.

Authors:  Ming Ta Michael Lee; Anne Chun-Hui Tsai; Ching-Heng Chou; Feng-Mei Sun; Li-Chen Huang; Pauline Yen; Chyi-Chyang Lin; Chih-Yang Liu; Jer-Yuarn Wu; Yuan-Tsong Chen; Fuu-Jen Tsai
Journal:  Genomic Med       Date:  2008-08-12

Review 6.  Crosstalk of Brain and Bone-Clinical Observations and Their Molecular Bases.

Authors:  Ellen Otto; Paul-Richard Knapstein; Denise Jahn; Jessika Appelt; Karl-Heinz Frosch; Serafeim Tsitsilonis; Johannes Keller
Journal:  Int J Mol Sci       Date:  2020-07-13       Impact factor: 5.923

Review 7.  Delayed Eruption of Permanent Dentition and Maxillary Contraction in Patients with Cleidocranial Dysplasia: Review and Report of a Family.

Authors:  A Impellizzeri; G Midulla; U Romeo; C La Monaca; E Barbato; G Galluccio
Journal:  Int J Dent       Date:  2018-07-04

8.  De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia.

Authors:  Smita M Purandare; Roberto Mendoza-Londono; Svetlana A Yatsenko; Dobrawa Napierala; Daryl A Scott; Tarek Sibai; Kari Casas; Patrick Wilson; Jiyun Lee; Razia Muneer; Joe C Leonard; Faridali G Ramji; Ralph Lachman; Shibo Li; Pawel Stankiewicz; Brendan Lee; John J Mulvihill
Journal:  Am J Med Genet A       Date:  2008-02-15       Impact factor: 2.802

9.  Modulation of cognition and anxiety-like behavior by bone remodeling.

Authors:  Lori Khrimian; Arnaud Obri; Gerard Karsenty
Journal:  Mol Metab       Date:  2017-10-06       Impact factor: 7.422

  9 in total

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