Literature DB >> 16131709

Brachydactyly A1: new relatives for old families?

Santhosh Girirajan1, Sarah H Elsea.   

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Year:  2005        PMID： 16131709     DOI： 10.1007/BF02715835

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  19 in total

1.  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

2.  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

3.  Hereditary Anchylosis of the Proximal Phalan-Geal Joints (Symphalangism).

Authors:  H Cushing
Journal:  Genetics       Date:  1916-01       Impact factor: 4.562

4.  The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog.

Authors:  D M Stone; M Hynes; M Armanini; T A Swanson; Q Gu; R L Johnson; M P Scott; D Pennica; A Goddard; H Phillips; M Noll; J E Hooper; F de Sauvage; A Rosenthal
Journal:  Nature       Date:  1996-11-14       Impact factor: 49.962

5.  Classification and identification of inherited brachydactylies.

Authors:  N Fitch
Journal:  J Med Genet       Date:  1979-02       Impact factor: 6.318

6.  Metacarpophalangeal pattern profiles in the evaluation of skeletal malformations.

Authors:  A K Poznanski; S M Garn; J M Nagy; J C Gall
Journal:  Radiology       Date:  1972-07       Impact factor: 11.105

7.  Evaluation of candidate genes for familial brachydactyly.

Authors:  J M Mastrobattista; P Dollé; S H Blanton; H Northrup
Journal:  J Med Genet       Date:  1995-11       Impact factor: 6.318

8.  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

9.  Characterization of two patched receptors for the vertebrate hedgehog protein family.

Authors:  D Carpenter; D M Stone; J Brush; A Ryan; M Armanini; G Frantz; A Rosenthal; F J de Sauvage
Journal:  Proc Natl Acad Sci U S A       Date:  1998-11-10       Impact factor: 11.205

10.  Conservation in hedgehog signaling: induction of a chicken patched homolog by Sonic hedgehog in the developing limb.

Authors:  V Marigo; M P Scott; R L Johnson; L V Goodrich; C J Tabin
Journal:  Development       Date:  1996-04       Impact factor: 6.868
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  1 in total

1.  Isolated symmetrical brachymetacarpia of the thumb--case report.

Authors:  S S Suresh; Raju Abraham; Pullanikattil Ravi
Journal:  Hand (N Y)       Date:  2009-03-25
  1 in total

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