Publications by authors named "Annie Procter"

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The translation of psychiatric genetic findings to the clinic.
Kimberley Marie Kendall, Donna Duffin, Joanne Doherty, Rachel Irving, Annie Procter

Schizophr Res· May 2024

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Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study.
Claire Forde, Emma Burkitt-Wright, Peter D Turnpenny, Eric Haan, John Ealing, Annie Procter

Eur J Hum Genet· March 2022

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Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans.
Federica Buonocore, Peter Kühnen, Jenifer P Suntharalingham, Ignacio Del Valle, Martin Digweed, Annie M Procter

J Clin Invest· May 2017

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X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions.
Emma M M Burkitt Wright, Rahat Perveen, Peter E Clayton, Catherine M Hall, Teresa Costa, Annie M Procter

Clin Dysmorphol· October 2009

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Improving service delivery by evaluation of the referral pattern and capacity in a clinical genetics setting.
Emma McCann, Elizabeth A Baines, Jonathon R Gray, Annie M Procter

Am J Med Genet C Semin Med Genet· August 2009

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Genetic variation at the growth hormone (GH1) and growth hormone receptor (GHR) loci as a risk factor for hypertension and stroke.
Martin Horan, Vicky Newsway, Yasmin, Mark D Lewis, Tammy E Easter, Annie M Procter

Hum Genet· June 2006

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A novel dysfunctional growth hormone variant (Ile179Met) exhibits a decreased ability to activate the extracellular signal-regulated kinase pathway.
Mark D Lewis, Martin Horan, David S Millar, Vicky Newsway, Tammy E Easter, Annie M Procter

J Clin Endocrinol Metab· March 2004

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Human growth hormone 1 (GH1) gene expression: complex haplotype-dependent influence of polymorphic variation in the proximal promoter and locus control region.
Martin Horan, David S Millar, Jürgen Hedderich, Geraint Lewis, Vicky Newsway, Annie M Procter

Hum Mutat· April 2003

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Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature.
David S Millar, Mark D Lewis, Martin Horan, Vicky Newsway, Tammy E Easter, Annie M Procter

Hum Mutat· April 2003

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Human growth hormone I gene expression is influenced in a complex haplotype-dependent fashion by polymorphic variation in both the proximal promoter and the locus control region.
David N Cooper, Martin Horan, David S Millar, Jürgen Hedderich, Geraint Lewis, Annie M Procter

J Pediatr Endocrinol Metab· December 2002

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