Literature DB >> 15886999

A century later Farabee has his mutation.

M Elizabeth McCready, Allison Grimsey, Timothy Styer, Sarah M Nikkel, Dennis E Bulman.   

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Year:  2005        PMID: 15886999     DOI: 10.1007/s00439-005-1289-9

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


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  7 in total

1.  A locus for brachydactyly type A-1 maps to chromosome 2q35-q36.

Authors:  X Yang; C She; J Guo; A C Yu; Y Lu; X Shi; G Feng; L He
Journal:  Am J Hum Genet       Date:  2000-03       Impact factor: 11.025

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

Authors:  C M Armour; M E McCready; A Baig; A G W Hunter; D E Bulman
Journal:  J Med Genet       Date:  2002-03       Impact factor: 6.318

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

Authors:  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
Journal:  J Med Genet       Date:  2003-02       Impact factor: 6.318

4.  FARABEE'S BRACHYDACTYLOUS KINDRED REVISITED.

Authors:  D V HAWS; V A MCKUSICK
Journal:  Bull Johns Hopkins Hosp       Date:  1963-07

5.  A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved.

Authors:  M Elizabeth McCready; Elizabeth Sweeney; Allan E Fryer; Dian Donnai; Akeel Baig; Lemuel Racacho; Matthew L Warman; Alasdair G W Hunter; Dennis E Bulman
Journal:  Hum Genet       Date:  2002-09-07       Impact factor: 4.132

6.  Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1.

Authors:  B Gao; J Guo; C She; A Shu; M Yang; Z Tan; X Yang; S Guo; G Feng; L He
Journal:  Nat Genet       Date:  2001-08       Impact factor: 38.330

7.  Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus.

Authors:  T J Kirkpatrick; K-S Au; J M Mastrobattista; M E McCready; D E Bulman; H Northrup
Journal:  J Med Genet       Date:  2003-01       Impact factor: 6.318

  7 in total
  5 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.  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

3.  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

4.  A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range.

Authors:  Bo Gao; Jianxin Hu; Sigmar Stricker; Martin Cheung; Gang Ma; Kit Fong Law; Florian Witte; James Briscoe; Stefan Mundlos; Lin He; Kathryn S E Cheah; Danny Chan
Journal:  Nature       Date:  2009-03-01       Impact factor: 49.962

5.  Peer influence on obesity: Evidence from a natural experiment of a gene-environment interaction.

Authors:  Yi Li; Guang Guo
Journal:  Soc Sci Res       Date:  2020-10-20
  5 in total

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