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  1. Article

    Ocular manifestations in oculodentodigital dysplasia resulting from a heterozygous missense mutation (L113P) in GJA1 (connexin 43)

    To characterize the ophthalmic findings, intrafamilial variability, and molecular genetic basis of oculodentodigital dysplasia (ODDD; MIM no. 164200).

    F U Musa, P Ratajczak, J Sahu, S Pentlicky, A Fryer, G Richard, C E Willoughby in Eye (2009)

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    Article

    Surgical implications of the Smith–Lemli–Opitz syndrome

    Smith–Lemli–Opitz syndrome (SLOS) is a syndrome of rare multiple congenital anomalies/mental retardation associated with low plasma cholesterol levels. Prior to receiving the diagnosis of SLOS, affected childr...

    R. J. Craigie, M. Ba’ath, A. Fryer, C. Baillie in Pediatric Surgery International (2005)

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    Article

    Nasomaxillary Hypoplasia and Severe Orofacial Clefting in a Child of a Mother with Phenylketonuria

    The offspring of mothers with untreated or poorly controlled phenylketonuria (PKU) (McKusick 261600) are at risk of having congenital anomalies including microcephaly, congenital heart defects and developmenta...

    E. Sweeney, A. Fryer in Journal of Inherited Metabolic Disease (2002)

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    Article

    Glutathione S-transferase and cytochrome P450 genotypes as risk factors for laryngeal carcinoma

    While cigarette smoking and alcohol consumption have been linked to laryngeal squamous cell carcinoma (SCC), the role of genetic factors in determining individual susceptibility is unknown. We describe the rol...

    V. Jahnke, R. Strange, C. Matthias, A. Fryer in European Archives of Oto-Rhino-Laryngology (1997)

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    Article

    Susceptibility to multiple cutaneous basal cell carcinomas: significant interactions between glutathione S-transferase GSTM1 genotypes, skin type and male gender

    The factors that determine development of single and multiple primary cutaneous basal cell carcinomas (BCCs) are unclear. We describe a case-control study firstly, to examine the influence of allelism at the g...

    A Heagerty, A Smith, J English, J Lear, W Perkins, B Bowers… in British Journal of Cancer (1996)

  6. Article

    The role of molecular genetics in the prenatal diagnosis of retinal dystrophies

    Inherited retinal dystrophies are important causes of incurable blindness in developed countries. Advances in molecular genetics promise significant improvements in their management. Immediate benefits of pres...

    K Evans, C Y Gregory, A Fryer, J Whittaker, J Duvall-Young, A C Bird, M R Jay… in Eye (1995)

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    Article

    Tylosis oesophageal cancer mapped

    J.M. Risk, E.A. Field, J.K. Field, J. Whittaker, A. Fryer, A. Ellis… in Nature Genetics (1994)

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    Article

    Paternal origin of new mutations in Von Recklinghausen neurofibromatosis

    VON Recklinghausen neurofibromatosis (NF-1)1–4 is a common autosomal dominant disorder. The estimated new mutation rate (1 x 10−4) is one of the highest for a human disorder1. Here we report that in 12 of 14 fam...

    D. Jadayel, P. Fain, M. Upadhyaya, M. A. Ponder, S. M. Huson, J. Carey, A. Fryer… in Nature (1990)

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    Article

    Non-random X-Inactivation in the Female Mule

    THE mule (2n=63) is a hybrid between a jack donkey (Equus asinus, 2n=62) and a mare (E. caballus, 2n=64). The two chromosome complements are quite distinct, and in particular the X chromosomes differ morphologica...

    J. L. HAMERTON, F. GIANNELLI, F. COLLINS, J. HALLETT, A. FRYER, V. M. MCGUIRE… in Nature (1969)