Literature DB >> 12566523

Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family.

N Giordano, L Gennari, M Bruttini, F Mari, I Meloni, C Baldi, S Capoccia, S Geraci, D Merlotti, A Amendola, G Martini, R Nuti, C Gennari, A Renieri.   

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Year:  2003        PMID： 12566523      PMCID： PMC1735372          DOI： 10.1136/jmg.40.2.132

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


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  8 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.  Severe Form of Brachydactyly Type A1 in a Child with a c.298G > A Mutation in IHH Gene.

Authors:  Smrithi Salian; Anju Shukla; Gen Nishimura; Katta M Girisha
Journal:  J Pediatr Genet       Date:  2017-03-07

4.  Case Report: Brachydactyly Type A1 Induced by a Novel Variant of in-Frame Insertion in the IHH Gene.

Authors:  Feier Zeng; Huan Liu; Xuyang Xia; Yang Shu; Wei Cheng; Heng Xu; Geng Yin; Qibing Xie
Journal:  Front Genet       Date:  2022-05-20       Impact factor: 4.772

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.  Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels.

Authors:  Gang Ma; Jiang Yu; Yue Xiao; Danny Chan; Bo Gao; Jianxin Hu; Yongxing He; Shengzhen Guo; Jian Zhou; Lingling Zhang; Linghan Gao; Wenjuan Zhang; Yan Kang; Kathryn S E Cheah; Guoyin Feng; Xizhi Guo; Yujiong Wang; Cong-zhao Zhou; Lin He
Journal:  Cell Res       Date:  2011-05-03       Impact factor: 46.297

7.  A novel variant of IHH in a Chinese family with brachydactyly type 1.

Authors:  Qi Yang; Jin Wang; Xiaoxian Tian; Fei Shen; Jing Lan; Qiang Zhang; Xin Fan; Shang Yi; Mengting Li; Yiping Shen
Journal:  BMC Med Genet       Date:  2020-03-24       Impact factor: 2.103

8.  Deletion of 2 amino acids in IHH in a Japanese family with brachydactyly type A1.

Authors:  Nozomu Ozaki; Hiroko Okuda; Hatasu Kobayashi; Kouji H Harada; Sumiko Inoue; Shohab Youssefian; Akio Koizumi
Journal:  BMC Med Genomics       Date:  2021-07-27       Impact factor: 3.063
  8 in total

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