Literature DB >> 9598736

Craniosynostosis and chromosome 22q11 deletion.

J C Dean, D C De Silva, W Reardon.   

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Year:  1998        PMID： 9598736      PMCID： PMC1051294          DOI： 10.1136/jmg.35.4.346

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


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  5 in total

1.  Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.

Authors:  W Reardon; D Wilkes; P Rutland; L J Pulleyn; S Malcolm; J C Dean; R D Evans; B M Jones; R Hayward; C M Hall; N C Nevin; M Baraister; R M Winter
Journal:  J Med Genet       Date:  1997-08       Impact factor: 6.318

2.  A population-based study of craniosynostosis.

Authors:  L R French; I T Jackson; L J Melton
Journal:  J Clin Epidemiol       Date:  1990       Impact factor: 6.437

3.  Family studies in chromosome 22q11 deletion: further demonstration of phenotypic heterogeneity.

Authors:  D De Silva; P Duffty; P Booth; I Auchterlonie; N Morrison; J C Dean
Journal:  Clin Dysmorphol       Date:  1995-10       Impact factor: 0.816

4.  Cranial hemihypertrophy and neurodevelopmental prognosis.

Authors:  J C Dean; G F Cole; R E Appleton; J Burn; S A Roberts; D Donnai
Journal:  J Med Genet       Date:  1990-03       Impact factor: 6.318

5.  Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

Authors:  A K Ryan; J A Goodship; D I Wilson; N Philip; A Levy; H Seidel; S Schuffenhauer; H Oechsler; B Belohradsky; M Prieur; A Aurias; F L Raymond; J Clayton-Smith; E Hatchwell; C McKeown; F A Beemer; B Dallapiccola; G Novelli; J A Hurst; J Ignatius; A J Green; R M Winter; L Brueton; K Brøndum-Nielsen; P J Scambler
Journal:  J Med Genet       Date:  1997-10       Impact factor: 6.318
  5 in total
  2 in total

Review 1.  Genetic advances in craniosynostosis.

Authors:  Wanda Lattanzi; Marta Barba; Lorena Di Pietro; Simeon A Boyadjiev
Journal:  Am J Med Genet A       Date:  2017-02-04       Impact factor: 2.802

2.  Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases.

Authors:  Ashutosh Halder; Manish Jain; Madhulika Kabra; Neerja Gupta
Journal:  Mol Cytogenet       Date:  2008-08-10       Impact factor: 2.009
  2 in total

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