Search Results - "Slaney, S"

Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome by Wilkie, Andrew O.M, Slaney, Sarah F, Oldridge, Michael, Poole, Michael D, Ashworth, Geraldine J, Hockley, Anthony D, Hayward, Richard D, David, David J, Pulleyn, Louise J, Rutland, Paul, Malcolm, Susan, Winter, Robin M, Reardon, William

“…Apert syndrome is a distinctive human malformation comprising craniosynostosis and severe syndactyly of the hands and feet. We have identified specific…”
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Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome by SLANEY, S. F, OLDRIDGE, M, HURST, J. A, MORRISS-KAY, G. M, HALL, C. M, POOLE, M. D, WILKIE, A. O. M

“…Apert syndrome is a distinctive human malformation characterized by craniosynostosis and severe syndactyly of the hands and feet. It is caused by specific…”
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Exclusive paternal origin of new mutations in Apert syndrome by Wilkie, Andrew O.M, Moloney, Dominique M, Wall, Steven A, Stenman, Göran, Oldridge, Michael, Sahlin, Pelle, Slaney, Sarah R

“…Apert syndrome results from one or other of two specific nucleotide substitutions, both C-->G transversions, in the fibroblast growth factor receptor 2 (FGFR2)…”
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Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes by Rutland, Paul, Pulleyn, Louise J, Reardon, William, Baraitser, Michael, Hayward, Richard, Jones, Barry, Malcolm, Sue, Winter, Robin M, Oldridge, Michael, Slaney, Sarah F, Poole, Michael D, Wilkie, Andrew O.M

“…Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been identified in Crouzon syndrome, an autosomal dominant condition causing premature…”
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Asymmetry and skin pigmentary anomalies in chromosome mosaicism by Woods, C G, Bankier, A, Curry, J, Sheffield, L J, Slaney, S F, Smith, K, Voullaire, L, Wellesley, D

“…We report six persons mosaic for a chromosome anomaly. All were mentally retarded and dysmorphic. Unilateral or asymmetrical features were found in all cases,…”
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Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain by Gibbons, Richard J, Bachoo, Satvinder, Picketts, David J, Aftimos, Salim, Asenbauer, Bernhard, Bergoffen, JoAnn, Berry, Susan A, Dahl, Niklas, Fryer, Alan, Keppler, Kim, Kurosawa, Kenji, Levin, Michael L, Masuno, Mitsuo, Neri, Giovanni, Pierpont, Mary Ella, Slaney, Sarah F, Higgs, Douglas R

“…In addition to classical transcription factors, a diverse group of trans-acting proteins may affect eukaryotic gene expression by influencing chromatin…”
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An autosomal or X linked mutation results in true hermaphrodites and 46,XX males in the same family by Slaney, S F, Chalmers, I J, Affara, N A, Chitty, L S

“…It is now well established that the differentiation of the primitive gonad into the testis during early human embryonic development depends on the presence of…”
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Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome by Lindsay, S, Ireland, M, O'Brien, O, Clayton-Smith, J, Hurst, J A, Mann, J, Cole, T, Sampson, J, Slaney, S, Schlessinger, D, Burn, J, Pilia, G

“…AIMS OF THE STUDY: To identify the proportion and type of deletions present in the glypican 3 (GPC3) gene in a group of patients with Simpson-Golabi-Behmel…”
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MURCS in a male? by Wellesley, D G, Slaney, S F

“…A man with Klippel-Feil deformity, unilateral renal agenesis, and azoospermia is presented as a possible case of MURCS…”
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Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome) by Morris, A A, Sequeira, J S, Malone, M, Slaney, S F, Clayton, P T

“…We report a mother and daughter with features of Aagenaes syndrome. Unlike most previous cases, there is no Norwegian ancestry and the pedigree favours…”
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Kabuki make-up and Turner syndromes in the same patient by Wellesley, D G, Slaney, S

“…We describe a 2-year-old girl with clinical features of both Turner syndrome and Kabuki make-up syndrome. Cytogenetic analysis of 100 cells derived from skin…”
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Lethal micromelic short-rib skeletal dysplasia with triangular-shaped humerus by SLANEY, S. F, SPRIGG, A, DAVIES, N. P, HALL, C. M

“…We report two brothers with a new type of lethal, micromelic, short-rib, skeletal dysplasia characterised by short limbs with distinctive triangular-shaped…”
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A new syndrome of short stature, distinctive facial features and periventricular grey matter heterotopia by Slaney, S F, Chong, W K, Winter, R M

“…We report on a male infant with distinctive facial features, short stature and rhizomelic upper limb shortening. His MRI brain scan showed abnormal ventricular…”
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A new syndrome of spondyloepimetaphyseal dysplasia, eczema and hypogammaglobulinaemia by Slaney, S F, Hall, C M, Atherton, D J, Winter, R M

“…We describe a female infant with a combination of very short stature, severe eczema and IgG deficiency causing recurrent infections in infancy. The…”
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Hemifacial hypoplasia and hypomelanosis of Ito by Tan, S.T., Slaney, S.F., Ashworth, G., Poole, M.D.

“…We present three cases of hemifacial hypoplasia associated with hypomelanosis of Ito. The facial deformity is often severe with marked soft tissue shortage and…”
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DNA testing for fragile X syndrome in schools for learning difficulties by Slaney, S F, Wilkie, A O, Hirst, M C, Charlton, R, McKinley, M, Pointon, J, Christodoulou, Z, Huson, S M, Davies, K E

“…Fragile X syndrome is the most common inherited cause of mental retardation. Early diagnosis is important not only for appropriate management of individuals…”
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Craniofrontonasal dysplasia by Orr, D.J.A., Slaney, S., Ashworth, G.J., Poole, M.D.

“…A series of 10 patients with craniofrontonasal dysplasia presenting to the Oxford Craniofacial Unit since 1983 is presented. In addition to the well-described…”
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Congenital cervical spinal fusion: a study in Apert syndrome by Thompson, D N, Slaney, S F, Hall, C M, Shaw, D, Jones, B M, Hayward, R D

“…The occurrence and pattern of cervical spinal fusions have been assessed in 59 cases of Apert syndrome (acrocephalosyndactyly type 1). Radiological evidence of…”
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Severe microcephaly, choreiform movements, cataracts and sensorineural deafness in two patients: a new syndrome? by Plomp, A S, Baraitser, M, Slaney, S F, Winter, R M

“…Two unrelated male patients are described with severe microcephaly, early-onset choreiform movements, cataracts, sensorineural deafness and profound…”
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Medical genetics: advances in brief: Molecular biology and genetics of allergy and asthma by Slaney, S.

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