-John A Mcgrath Researcher Activity Profile

Research Author Detailed Information 

John A Mcgrath Publication Rate By Year

John A Mcgrath has published 1 paper(s) in 2006, 20 paper(s) in 2007, 3 paper(s) in 2008, for a total of 24 research publications in total.

John A Ja Mcgrath Author Information

LAST NAME: mcgrath

FIRST NAME: John A

INITIALS: ja

AFFILIATION:

Papers

John A Mcgrath's Publication Record

1. Rapp-Hodgkin ectodermal dysplasia syndrome: the clinical and molecular overlap with Hay-Wells syndrome. Year Published: 2006
Genetic Health Services Victoria, Flemington Road, Parkville, Australia. peter.kannu@ghsv.org.au
2. The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1. Year Published: 2007
Genetic Skin Disease Group, St John's Institute of Dermatology, Division of Genetics and Molecular Medicine, The Guy's, King's College and St Thomas' School of Medicine, London, UK.
3. New KRT10 gene mutation underlying the annular variant of bullous congenital ichthyosiform erythroderma with clinical worsening during pregnancy. Year Published: 2007
Department of Dermatology, Ealing Hospital, Southall UB1 3HW, UK. nisithsheth@yahoo.co.uk
4. Recurrent p.N767S mutation in the ATP2A2 gene in a Japanese family with haemorrhagic Darier disease clinically mimicking epidermolysis bullosa simplex with mottled pigmentation. Year Published: 2007
Department of Dermatology, Kurume University School of Medicine, 67 Asahimachi, Kurume 830-0011, Japan. hamataka@med.kurume-u.ac.jp
5. Functional redundancy of extracellular matrix protein 1 in epidermal differentiation. Year Published: 2007
Labortaory of Molecular Biotechnology, Department of Biomedical Sciences, University of Antwerp, Universiteitsplein 1, 2610 Wilrijk/Antwerp, Belgium.
6. The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1. Year Published: 2007
Genetic Skin Disease Group, St John's Institute of Dermatology, Division of Genetics and Molecular Medicine, The Guy's, King's College and St Thomas' School of Medicine, London, UK.
7. Stage II follow-up on a linkage scan for bipolar disorder in the Ashkenazim provides suggestive evidence for chromosome 12p and the GRIN2B gene. Year Published: 2007
Department of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, Baltimore, Maryland 21231, USA.
8. Genetic diseases of junctions. Year Published: 2007
King's College London, The Guy's, King's College and St Thomas' School of Medicine, Genetic Skin Disease Group, Division of Genetics and Molecular Medicine, St John's Institute of Dermatology, London, UK.
9. Recurrent KIND1 (C20orf42) gene mutation, c.676insC, in a Brazilian pedigree with Kindler syndrome. Year Published: 2007
10. Globalization of DNA-based prenatal diagnosis for recessive dystrophic epidermolysis bullosa. Year Published: 2007
Institute of Dermatology, Bangkok, Thailand. vesarat.wessagowit@kcl.ac.uk
11. Genetic diseases of junctions. Year Published: 2007
King's College London, The Guy's, King's College and St Thomas' School of Medicine, Genetic Skin Disease Group, Division of Genetics and Molecular Medicine, St John's Institute of Dermatology, London, UK.
12. Unusual molecular findings in Kindler syndrome. Year Published: 2007
Genetic Skin Disease Group, St John's Institute of Dermatology, Division of Genetics and Molecular Medicine, The Guy's, King's College and St Thomas' School of Medicine, St Thomas' Hospital, Lambeth Palace Road, London SE1 7EH, UK. ken.arita@kcl.ac.uk
13. Recurrent KIND1 (C20orf42) gene mutation, c.676insC, in a Brazilian pedigree with Kindler syndrome. Year Published: 2007
14. Stage II follow-up on a linkage scan for bipolar disorder in the Ashkenazim provides suggestive evidence for chromosome 12p and the GRIN2B gene. Year Published: 2007
Department of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, Baltimore, Maryland 21231, USA.
15. The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1. Year Published: 2007
Genetic Skin Disease Group, St John's Institute of Dermatology, Division of Genetics and Molecular Medicine, The Guy's, King's College and St Thomas' School of Medicine, London, UK.
16. Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis. Year Published: 2008
Genetic Skin Disease Group, St. John's Institute of Dermatology, Division of Genetics and Molecular Medicine, The Guy's, King's College and St Thomas' School of Medicine, London SE1 9RT, UK.
17. Stage II follow-up on a linkage scan for bipolar disorder in the Ashkenazim provides suggestive evidence for chromosome 12p and the GRIN2B gene. Year Published: 2007
Department of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, Baltimore, Maryland 21231, USA.
18. Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis. Year Published: 2008
Genetic Skin Disease Group, St. John's Institute of Dermatology, Division of Genetics and Molecular Medicine, The Guy's, King's College and St Thomas' School of Medicine, London SE1 9RT, UK.
19. A novel mutation in the VDR gene in hereditary vitamin D-resistant rickets. Year Published: 2007
Genetic Skin Disease Group, St John's Institute of Dermatology, Division of Genetics and Molecular Medicine, The Guy's, King's College and St Thomas' School of Medicine, London, UK. ken.arita@kcl.ac.uk
20. New KRT10 gene mutation underlying the annular variant of bullous congenital ichthyosiform erythroderma with clinical worsening during pregnancy. Year Published: 2007
Department of Dermatology, Ealing Hospital, Southall UB1 3HW, UK. nisithsheth@yahoo.co.uk
21. Recurrent p.N767S mutation in the ATP2A2 gene in a Japanese family with haemorrhagic Darier disease clinically mimicking epidermolysis bullosa simplex with mottled pigmentation. Year Published: 2007
Department of Dermatology, Kurume University School of Medicine, 67 Asahimachi, Kurume 830-0011, Japan. hamataka@med.kurume-u.ac.jp
22. Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene. Year Published: 2007
St. John's Institute of Dermatology, Division of Genetics and Molecular Medicine, The Guy's, King's College, St Thomas' School of Medicine, Guy's Hospital, London Bridge, London, UK.
23. The filaggrin story: novel insights into skin-barrier function and disease. Year Published: 2008
Genetic Skin Disease Group, St. John's Institute of Dermatology, Division of Genetics and Molecular Medicine, The Guy's, King's College and St. Thomas' School of Medicine, London, UK.
24. Globalization of DNA-based prenatal diagnosis for recessive dystrophic epidermolysis bullosa. Year Published: 2007
Institute of Dermatology, Bangkok, Thailand. vesarat.wessagowit@kcl.ac.uk