Literature DB >> 11897820

A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2.

C M Armour, M E McCready, A Baig, A G W Hunter, D E Bulman.   

Abstract

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Mesh：

Year:  2002        PMID： 11897820      PMCID： PMC1735058          DOI： 10.1136/jmg.39.3.186

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


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  9 in total

1.  Brachydactyly A1: new relatives for old families?

Authors:  Santhosh Girirajan; Sarah H Elsea
Journal:  J Genet       Date:  2005-08       Impact factor: 1.166

2.  A century later Farabee has his mutation.

Authors:  M Elizabeth McCready; Allison Grimsey; Timothy Styer; Sarah M Nikkel; Dennis E Bulman
Journal:  Hum Genet       Date:  2005-05-11       Impact factor: 4.132

3.  17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD).

Authors:  Christine M Armour; Dennis E Bulman; Olga Jarinova; Richard Curtis Rogers; Kate B Clarkson; Barbara R DuPont; Alka Dwivedi; Frank O Bartel; Laura McDonell; Charles E Schwartz; Kym M Boycott; David B Everman; Gail E Graham
Journal:  Eur J Hum Genet       Date:  2011-06-01       Impact factor: 4.246

4.  The molecular genetics of human appendicular skeleton.

Authors:  Safeer Ahmad; Muhammad Zeeshan Ali; Muhammad Muzammal; Fayaz Ahmad Mir; Muzammil Ahmad Khan
Journal:  Mol Genet Genomics       Date:  2022-07-30       Impact factor: 2.980

5.  Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog.

Authors:  Ashley M Byrnes; Lemuel Racacho; Allison Grimsey; Louanne Hudgins; Andrea C Kwan; Michel Sangalli; Alexa Kidd; Yuval Yaron; Yu-Lung Lau; Sarah M Nikkel; Dennis E Bulman
Journal:  Eur J Hum Genet       Date:  2009-03-11       Impact factor: 4.246

6.  Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1.

Authors:  Mi-Ae Jang; Ok-Hwa Kim; Sun Wook Kim; Chang-Seok Ki
Journal:  Ann Lab Med       Date:  2015-04-01       Impact factor: 3.464

7.  Identification of duplication downstream of BMP2 in a Chinese family with brachydactyly type A2 (BDA2).

Authors:  Xudong Liu; Linghan Gao; Aman Zhao; Rui Zhang; Baohu Ji; Lei Wang; Yonglan Zheng; Bingfang Zeng; Robert K Valenzuela; Lin He; Jie Ma
Journal:  PLoS One       Date:  2014-04-07       Impact factor: 3.240

8.  A novel variant in the ROR2 gene underlying brachydactyly type B: a case report.

Authors:  Jiaqi Shao; Yue Liu; Shuyang Zhao; Weisheng Sun; Jie Zhan; Lihua Cao
Journal:  BMC Pediatr       Date:  2022-09-05       Impact factor: 2.567

9.  Brachdactyly Instigated as a Result of Mutation in GDF5 and NOG Genes in Pakistani Population.

Authors:  Samiullah Khan; Muhammad Mudassir; Naqab Khan; Asmatullah Marwat
Journal:  Pak J Med Sci       Date:  2018 Jan-Feb       Impact factor: 1.088
  9 in total

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