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Angela Brady

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Disorders

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Amanda J Kilsby; Chelvi Kukendrajah; Peter Loshe; Ewa Raglan; Kaukab Rajput; Isabelle Russell-Eggitt; Michele Cruwys; Angela F Brady
Homozygosity for piebaldism with a proven KIT mutation resulting in depigmentation of the skin and hair, deafness, developmental delay and autism spectrum disorder.
Vikram P Sharma; Elizabeth Sweeney; Susan E Tomkins; Stephen R F Twigg; Peter J van der Spek; Steven A Wall; Louise C Wilson; Sophia Bennett; Angela F Brady; Mia S Brockop; John Broxholme; Richard J Cornall; Aimée L Fenwick; Jacqueline A C Goos; A J M Hoogeboom; Nu Owase Jeelani; David Johnson; Alexander Kanapin; Sally Ann Lynch; Irene M J Mathijssen; Robert E Maxson; Simon J McGowan; John B Mulliken; Dylan J Murray; Julie M Phipps; Andrew O M Wilkie
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.
Ellen R A Thomas; Emma L Wakeling; Frances R Goodman; John C Dickinson; Christine M Hall; Angela F Brady
Mild case of Curry-Jones syndrome.

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All Publications

2013: Amanda J Kilsby; Chelvi Kukendrajah; Peter Loshe; Ewa Raglan; Kaukab Rajput; Isabelle Russell-Eggitt; Michele Cruwys; Angela F Brady
Homozygosity for piebaldism with a proven KIT mutation resulting in depigmentation of the skin and hair, deafness, developmental delay and autism spectrum disorder.
Clinical dysmorphology 2013;22(2):64-7.
2013: Vikram P Sharma; Elizabeth Sweeney; Susan E Tomkins; Stephen R F Twigg; Peter J van der Spek; Steven A Wall; Louise C Wilson; Sophia Bennett; Angela F Brady; Mia S Brockop; John Broxholme; Richard J Cornall; Aimée L Fenwick; Jacqueline A C Goos; A J M Hoogeboom; Nu Owase Jeelani; David Johnson; Alexander Kanapin; Sally Ann Lynch; Irene M J Mathijssen; Robert E Maxson; Simon J McGowan; John B Mulliken; Dylan J Murray; Julie M Phipps; Andrew O M Wilkie
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.
Nature genetics 2013;45(3):304-7.
2006: Ellen R A Thomas; Emma L Wakeling; Frances R Goodman; John C Dickinson; Christine M Hall; Angela F Brady
Mild case of Curry-Jones syndrome.
Clinical dysmorphology 2006;15(2):115-7.
2004: Emma L Wakeling; Michele Cruwys; Mohnish Suri; Angela F Brady; sarah aylett; Christine Hall
Central osteosclerosis with trichothiodystrophy.
Pediatric radiology 2004;34(7):541-6.
2002: Angela F Brady; Robin M Winter; Louise C Wilson; F M Tatnall; R J Sheridan; C Garrett
Hemifacial microsomia, external auditory canal atresia, deafness and Mullerian anomalies associated with acro-osteolysis: a new autosomal recessive syndrome?
Clinical dysmorphology 2002;11(3):155-61.
2000: Angela F Brady; C S Waters; M J Pocha; Louise A Brueton
Chronic myelomonocytic leukaemia in a child with constitutional partial trisomy 8 mosaicism.
Clinical genetics 2000;58(2):142-6.
2000: Frances R Goodman; Chiara Bacchelli; Angela F Brady; Louise A Brueton; J P Fryns; Douglas P Mortlock; Jeffrey W Innis; L B Holmes; A E Donnenfeld; M Feingold; F A Beemer; Raoul Hennekam; Peter J Scambler
Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome.
American journal of human genetics 2000;67(1):197-202.