Search Results - "Turton, James P."

Congenital hypopituitarism: clinical, molecular and neuroradiological correlates by Mehta, Ameeta, Hindmarsh, Peter C., Mehta, Hiten, Turton, James P.G., Russell-Eggitt, Isabelle, Taylor, David, Chong, W.K., Dattani, Mehul T.

“…Summary Objective  Recent studies have suggested that mutations in genes encoding several hypothalamo–pituitary (H–P) transcription factors result in…”
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Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD) by Turton, James P. G., Mehta, Ameeta, Raza, Jamal, Woods, Kathryn S., Tiulpakov, Anatoly, Cassar, Joseph, Chong, Kling, Thomas, Paul Q., Eunice, Marumudi, Ammini, Ariachery C., Bouloux, Pierre M., Starzyk, Jerzy, Hindmarsh, Peter C., Dattani, Mehul T.

“…Summary Objective  Mutations within the pituitary‐specific paired‐like homeobox gene PROP1 have been described in 50–100% of patients with familial combined…”
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Novel Mutations within the POU1F1 Gene Associated with Variable Combined Pituitary Hormone Deficiency by Turton, James P. G., Reynaud, Rachel, Mehta, Ameeta, Torpiano, John, Saveanu, Alexandru, Woods, Kathryn S., Tiulpakov, Anatoly, Zdravkovic, Vera, Hamilton, Jill, Attard-Montalto, Simon, Parascandalo, Ray, Vella, Cecil, Clayton, Peter E., Shalet, Stephen, Barton, John, Brue, Thierry, Dattani, Mehul T.

“…Context: Mutations within the gene encoding the pituitary-specific transcription factor POU1F1 are associated with combined pituitary hormone deficiency…”
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The role of growth hormone in determining birth size and early postnatal growth, using congenital growth hormone deficiency (GHD) as a model by Mehta, Ameeta, Hindmarsh, Peter C., Stanhope, Richard G., Turton, James P. G., Cole, Tim J., Preece, Michael A., Dattani, Mehul T.

“…Summary Objective  The role of GH in early human growth is unclear. Congenital GH deficiency (CGHD) provides a useful tool to explore this putative role. We…”
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Evolution of gonadotropin deficiency in a patient with type II autosomal dominant GH deficiency by Turton, James P G, Buchanan, Charles R, Robinson, Iain C A F, Aylwin, Simon J B, Dattani, Mehul T

“…Background: Type II isolated GH deficiency (IGHD type II) is caused by dominant negative splicing or point mutations of the GH-1 gene. Studies have suggested…”
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Expanding the Spectrum of Mutations in GH1 and GHRHR: Genetic Screening in a Large Cohort of Patients with Congenital Isolated Growth Hormone Deficiency by Alatzoglou, Kyriaki S., Turton, James P., Kelberman, Daniel, Clayton, Peter E., Mehta, Ameeta, Buchanan, Charles, Aylwin, Simon, Crowne, Elisabeth C., Christesen, Henrik T., Hertel, Niels T., Trainer, Peter J., Savage, Martin O., Raza, Jamal, Banerjee, Kausik, Sinha, Sunil K., Ten, Svetlana, Mushtaq, Talat, Brauner, Raja, Cheetham, Timothy D., Hindmarsh, Peter C., Mullis, Primus E., Dattani, Mehul T.

“…Context: It is estimated that 3–30% of cases with isolated GH deficiency (IGHD) have a genetic etiology, with a number of mutations being reported in GH1 and…”
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HESX1 Mutations Are an Uncommon Cause of Septooptic Dysplasia and Hypopituitarism by McNay, David E. G., Turton, James P., Kelberman, Daniel, Woods, Kathryn S., Brauner, Raja, Papadimitriou, Anastasios, Keller, Eberhard, Keller, Alexandra, Haufs, Nele, Krude, Heiko, Shalet, Stephen M., Dattani, Mehul T.

“…Context: Mutations in the transcription factor HESX1 have previously been described in association with septooptic dysplasia (SOD) as well as isolated defects…”
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Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency by TURTON, James P. G, REYNAUD, Rachel, PARASCANDALO, Ray, VELLA, Cecil, CLAYTON, Peter E, SHALET, Stephen, BARTON, John, BRUE, Thierry, DATTANI, Mehul T, MEHTA, Ameeta, TORPIANO, John, SAVEANU, Alexandru, WOODS, Kathryn S, TIULPAKOV, Anatoly, ZDRAVKOVIC, Vera, HAMILTON, Jill, ATTARD-MONTALTO, Simon

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