Agnès BLOCH-ZUPAN

Publications

• 2009

  • Orodental phenotype and genotype findings in all subtypes of hypophosphatasia.

    • Amélie Reibel
    • Marie-Cécile Manière
    • François Clauss
    • Dominique Droz
    • Yves Alembik
    • Etienne Mornet
    • Agnès Bloch-Zupan

    Orphanet Journal of Rare Diseases ; Volume: 4 ; Page: 6

    HAL DOI

• 2007

  • SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma.

    • Cheryl y Gregory-Evans
    • Mariya Moosajee
    • Matthew D Hodges
    • Donna S Mackay
    • Laurence Game
    • Neil Vargesson
    • Agnès Bloch-Zupan
    • Franz Rüschendorf
    • Lourdes Santos-Pinto
    • Georges Wackens
    • Kevin Gregory-Evans

    Human Molecular Genetics ; Volume: 16 ; Page: 3482-93

    HAL DOI

  • When neuropediatrics meets odontology.

    • Agnès Bloch-Zupan

    Neuropediatrics ; Volume: 38 ; Page: 57-8

    HAL DOI

  • Oro-dental features as useful diagnostic tool in Rubinstein-Taybi syndrome.

    • A. Bloch-Zupan
    • J. Stachtou
    • D. Emmanouil
    • B. Arveiler
    • D. Griffiths
    • D. Lacombe

    American Journal of Medical Genetics Part A ; Volume: 143 ; Page: 570-3

    HAL DOI

  • Amelogenesis imperfecta.

    • Peter J. M. Crawford
    • Michael Aldred
    • Agnès Bloch-Zupan

    Orphanet Journal of Rare Diseases ; Volume: 2 ; Page: 17

    HAL DOI

• 2006

  • Multiple pulp stones and shortened roots of unknown etiology

    • Susan Parekh
    • Anna Kyriazidou
    • Agnès Bloch-Zupan
    • Graham Roberts

    Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics ; Volume: 101 ; Page: e139-e142

    HAL DOI

  • Otodental syndrome

    • Agnès Bloch-Zupan
    • Jane R Goodman

    Orphanet Journal of Rare Diseases ; Volume: 1

    HAL DOI

  • A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes

    • Faisal Idrees
    • Agnes Bloch-Zupan
    • Samantha Free
    • Daniela Vaideanu
    • Pamela Thompson
    • Paul Ashley
    • Glen Brice
    • Paul Rutland
    • Maria Bitner-Glindzicz
    • Peng Khaw
    • Scott Fraser
    • Sanjay Sisodiya
    • Jane Sowden

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics ; Volume: 141B ; Page: 184-191

    HAL DOI

• 2004

  • Oral health of children with juvenile idiopathic arthritis.

    • Nabila Ahmed
    • Agnès Bloch-Zupan
    • Kevin J Murray
    • Mary Calvert
    • Graham J Roberts
    • Victoria S Lucas

    Journal of Rheumatology ; Volume: 31 ; Page: 1639-1643

    HAL

  • An autosomal recessive cone-rod dystrophy associated with amelogenesis imperfecta

    • M Michaelides
    • Agnès Bloch-Zupan
    • G E Holder
    • D M Hunt
    • a T Moore

    Journal of Medical Genetics ; Volume: 41 ; Page: 468-473

    HAL DOI