Human growth hormone 1 (GH1) gene expression: Complex haplotype‐dependent influence of polymorphic variation in the proximal promoter and locus control region
Horan, Martin, Millar, David S., Hedderich, Jürgen, Lewis, Geraint, Newsway, Vicky, Mo, Neil, Fryklund, Linda, Procter, Annie M., Krawczak, Michael, Cooper, David N.
Published in Human mutation (01.04.2003)
Published in Human mutation (01.04.2003)
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Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans
Buonocore, Federica, Kühnen, Peter, Suntharalingham, Jenifer P, Del Valle, Ignacio, Digweed, Martin, Stachelscheid, Harald, Khajavi, Noushafarin, Didi, Mohammed, Brady, Angela F, Blankenstein, Oliver, Procter, Annie M, Dimitri, Paul, Wales, Jerry K H, Ghirri, Paolo, Knöbl, Dieter, Strahm, Brigitte, Erlacher, Miriam, Wlodarski, Marcin W, Chen, Wei, Kokai, George K, Anderson, Glenn, Morrogh, Deborah, Moulding, Dale A, McKee, Shane A, Niemeyer, Charlotte M, Grüters, Annette, Achermann, John C
Published in The Journal of clinical investigation (01.05.2017)
Published in The Journal of clinical investigation (01.05.2017)
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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
Millar, David S., Lewis, Mark D., Horan, Martin, Newsway, Vicky, Easter, Tammy E., Gregory, John W., Fryklund, Linda, Norin, Martin, Crowne, Elizabeth C., Davies, Sally J., Edwards, Phillip, Kirk, Jeremy, Waldron, Kim, Smith, Patricia J., Phillips III, John A., Scanlon, Maurice F., Krawczak, Michael, Cooper, David N., Procter, Annie M.
Published in Human mutation (01.04.2003)
Published in Human mutation (01.04.2003)
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Improving service delivery by evaluation of the referral pattern and capacity in a clinical genetics setting
McCann, Emma, Baines, Elizabeth A., Gray, Jonathon R., Procter, Annie M.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.08.2009)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.08.2009)
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X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions
Burkitt Wright, Emma M M, Perveen, Rahat, Clayton, Peter E, Hall, Catherine M, Costa, Teresa, Procter, Annie M, Giblin, Carol A, Donnai, Dian, Black, Graeme C
Published in Clinical dysmorphology (01.10.2009)
Published in Clinical dysmorphology (01.10.2009)
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A Novel Dysfunctional Growth Hormone Variant (Ile179Met) Exhibits a Decreased Ability to Activate the Extracellular Signal-Regulated Kinase Pathway
Lewis, Mark D, Horan, Martin, Millar, David S, Newsway, Vicky, Easter, Tammy E, Fryklund, Linda, Gregory, John W, Norin, Martin, Del Valle, Cristóbal-Jorge, López-Siguero, Juan Pedro, Cañete, Ramón, López-Canti, Luis Fernando, Díaz-Torrado, Nieves, Espino, Rafael, Ulied, Angels, Scanlon, Maurice F, Procter, Annie M, Cooper, David N
Published in The journal of clinical endocrinology and metabolism (01.03.2004)
Published in The journal of clinical endocrinology and metabolism (01.03.2004)
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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
HORAN, Martin, NEWSWAY, Vicky, HALL, Ian P, WHEATLEY, Amanda, BLAKEY, John, BATH, Philip M. W, COCKCROFT, John R, KRAWCZAK, Michael, COOPER, David N, LEWIS, Yasmin Mark D, EASTER, Tammy E, REES, D. Aled, MAHTO, Arti, MILLAR, David S, PROCTER, Annie M, SCANLON, Maurice F, WILKINSON, Ian B
Published in Human genetics (01.06.2006)
Published in Human genetics (01.06.2006)
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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
Cooper, David N, Horan, Martin, Millar, David S, Hedderich, Jürgen, Lewis, Geraint, Newsway, Vicky, Mo, Neil, Fryklund, Linda, Procter, Annie M, Krawczak, Michael
Published in Journal of pediatric endocrinology & metabolism : JPEM (01.12.2002)
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Published in Journal of pediatric endocrinology & metabolism : JPEM (01.12.2002)
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Deformation of the palate in preterm infants
Procter, Annie M, Lether, Diane, Oliver, Richard G, Cartlidge, Patrick HT
Published in Archives of disease in childhood. Fetal and neonatal edition (01.01.1998)
Published in Archives of disease in childhood. Fetal and neonatal edition (01.01.1998)
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Journal Article
Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans
Buonocore, Federica, Kuhnen, Peter, Suntharalingham, Jenifer P, Del Valle, Ignacio, Digweed, Martin, Stachelscheid, Harald, Khajavi, Noushafarin, Didi, Mohammed, Brady, Angela F, Blankenstein, Oliver, Procter, Annie M, Dimitri, Paul, Wales, Jerry K.H, Ghirri, Paolo, Knobl, Dieter, Strahm, Brigitte, Erlacher, Miriam, Wlodarski, Marcin W, Chen, Wei, Kokai, George K, Anderson, Glenn, Morrogh, Deborah, Moulding, Dale A, McKee, Shane A, Niemeyer, Charlotte M, Gruters, Annette, Achermann, John C
Published in The Journal of clinical investigation (01.05.2017)
Published in The Journal of clinical investigation (01.05.2017)
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Journal Article
Improving Service Delivery by Evaluation of the Referral Pattern and Capacity in a Clinical Genetics Setting : Quality in clinical Genetics
MCCANN, Emma, BAINES, Elizabeth A, GRAY, Jonathon R, PROCTER, Annie M
Published in American journal of medical genetics. Part C, Seminars in medical genetics (2009)
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Published in American journal of medical genetics. Part C, Seminars in medical genetics (2009)
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