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Ingegerd Fransson

Karolinska Institutet

28

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3033

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Submicroscopic genomic alterations in Silver–Russell syndrome and Silver–Russell-like patients

2010 Journal of Medical Genetics
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Submicroscopic genomic alterations in SilverRussell syndrome and SilverRussell-like patients

2009 Journal of Medical Genetics
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Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups

2008 Molecular Immunology
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Familial non-syndromic cleft lip and palate—analysis of the IRF6 gene and clinical phenotypes

2008 European Journal of Orthodontics
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Genome-Wide Analysis of Single Nucleotide Polymorphisms Uncovers Population Structure in Northern Europe

2008 PLOS ONE
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A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia

2007 Human Molecular Genetics
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Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome

2005 European Journal of Human Genetics
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Strong conservation of the human NF2 locus based on sequence comparison in five species.

2003 Mammalian Genome
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A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications

2002 Human Molecular Genetics
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Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity

2001 Human Genetics
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