Literature DB >> 18680190

Locus homogeneity between syndactyly type 1A and craniosynostosis Philadelphia type?

Mahim Jain1, Deeann Wallis, Nathaniel H Robin, Fabienne Wavrant De Vrieze, John A Hardy, Mohsen Ghadami, Kristin Bosse, Regina C Betz, Markus M Nöthen, Mauricio Arcos-Burgos, Maximilian Muenke.   

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Year:  2008        PMID: 18680190      PMCID: PMC2774842          DOI: 10.1002/ajmg.a.32445

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


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  15 in total

1.  Localization of a gene for syndactyly type 1 to chromosome 2q34-q36.

Authors:  K Bosse; R C Betz; Y A Lee; T F Wienker; A Reis; H Kleen; P Propping; S Cichon; M M Nöthen
Journal:  Am J Hum Genet       Date:  2000-06-30       Impact factor: 11.025

2.  Merlin--rapid analysis of dense genetic maps using sparse gene flow trees.

Authors:  Gonçalo R Abecasis; Stacey S Cherny; William O Cookson; Lon R Cardon
Journal:  Nat Genet       Date:  2001-12-03       Impact factor: 38.330

3.  HaploPainter: a tool for drawing pedigrees with complex haplotypes.

Authors:  Holger Thiele; Peter Nürnberg
Journal:  Bioinformatics       Date:  2004-09-17       Impact factor: 6.937

4.  Conserved seed pairing, often flanked by adenosines, indicates that thousands of human genes are microRNA targets.

Authors:  Benjamin P Lewis; Christopher B Burge; David P Bartel
Journal:  Cell       Date:  2005-01-14       Impact factor: 41.582

5.  PedCheck: a program for identification of genotype incompatibilities in linkage analysis.

Authors:  J R O'Connell; D E Weeks
Journal:  Am J Hum Genet       Date:  1998-07       Impact factor: 11.025

6.  Parametric and nonparametric linkage analysis: a unified multipoint approach.

Authors:  L Kruglyak; M J Daly; M P Reeve-Daly; E S Lander
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

7.  Allele-sharing models: LOD scores and accurate linkage tests.

Authors:  A Kong; N J Cox
Journal:  Am J Hum Genet       Date:  1997-11       Impact factor: 11.025

8.  Craniosynostosis, Philadelphia type: a new autosomal dominant syndrome with sagittal craniosynostosis and syndactyly of the fingers and toes.

Authors:  N H Robin; B Segel; G Carpenter; M Muenke
Journal:  Am J Med Genet       Date:  1996-03-15

9.  Transcriptome analysis of the murine forelimb and hindlimb autopod.

Authors:  Siming Shou; Virginia Scott; Cheryl Reed; Robert Hitzemann; H Scott Stadler
Journal:  Dev Dyn       Date:  2005-09       Impact factor: 3.780

10.  Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.

Authors:  A O Wilkie; S F Slaney; M Oldridge; M D Poole; G J Ashworth; A D Hockley; R D Hayward; D J David; L J Pulleyn; P Rutland
Journal:  Nat Genet       Date:  1995-02       Impact factor: 38.330

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  2 in total

1.  Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis.

Authors:  Eva Klopocki; Silke Lohan; Francesco Brancati; Randi Koll; Anja Brehm; Petra Seemann; Katarina Dathe; Sigmar Stricker; Jochen Hecht; Kristin Bosse; Regina C Betz; Francesco Giuseppe Garaci; Bruno Dallapiccola; Mahim Jain; Maximilian Muenke; Vivian C W Ng; Wilson Chan; Danny Chan; Stefan Mundlos
Journal:  Am J Hum Genet       Date:  2010-12-17       Impact factor: 11.025

2.  The epidemiology, genetics and future management of syndactyly.

Authors:  D Jordan; S Hindocha; M Dhital; M Saleh; W Khan
Journal:  Open Orthop J       Date:  2012-03-23
  2 in total

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