Search Results - "Berg, Jonathan N."

Genome-wide association study of sporadic brain arteriovenous malformations by Weinsheimer, Shantel, Bendjilali, Nasrine, Nelson, Jeffrey, Guo, Diana E, Zaroff, Jonathan G, Sidney, Stephen, McCulloch, Charles E, Al-Shahi Salman, Rustam, Berg, Jonathan N, Koeleman, Bobby P C, Simon, Matthias, Bostroem, Azize, Fontanella, Marco, Sturiale, Carmelo L, Pola, Roberto, Puca, Alfredo, Lawton, Michael T, Young, William L, Pawlikowska, Ludmila, Klijn, Catharina J M, Kim, Helen

“…BackgroundThe pathogenesis of sporadic brain arteriovenous malformations (BAVMs) remains unknown, but studies suggest a genetic component. We estimated the…”
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Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes by Spinelli, Laura, Black, Fiona M, Berg, Jonathan N, Eickholt, Britta J, Leslie, Nicholas R

“…Germline mutations in the phosphatase PTEN are associated with diverse human pathologies, including tumour susceptibility, developmental abnormalities and…”
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Germline FH Mutations Presenting With Pheochromocytoma by Clark, Graeme R, Sciacovelli, Marco, Gaude, Edoardo, Walsh, Diana M, Kirby, Gail, Simpson, Michael A, Trembath, Richard C, Berg, Jonathan N, Woodward, Emma R, Kinning, Esther, Morrison, Patrick J, Frezza, Christian, Maher, Eamonn R

“…Context: At least a third of the patients with pheochromocytoma (PCC) or paraganglioma (PGL) harbor an underlying germline mutation in a known PCC/PGL gene…”
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FGFR2 protein expression in breast cancer: nuclear localisation and correlation with patient genotype by Martin, Amy J, Grant, Andrew, Ashfield, Alison M, Palmer, Colin N, Baker, Lee, Quinlan, Philip R, Purdie, Colin A, Thompson, Alastair M, Jordan, Lee B, Berg, Jonathan N

“…Single Nucleotide Polymorphisms (SNPs) in intron 2 of the Fibroblast Growth Factor Receptor Type 2 (FGFR2) gene, including rs2981582, contribute to…”
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Cerebrofaciothoracic dysplasia: Four new patients with a recurrent TMCO1 pathogenic variant by Michael Yates, Thabo, Ng, Oon‐Hui, Offiah, Amaka C., Willoughby, Josh, Berg, Jonathan N., Johnson, Diana S.

“…Biallelic loss of function variants in the TMCO1 gene have been previously demonstrated to result in cerebrofaciothoracic dysplasia (CFTD; MIM #213980). The…”
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Attenuated familial adenomatous polyposis manifests as autosomal dominant late-onset colorectal cancer by Ibrahim, Abdulla, Barnes, Daniel R, Dunlop, Jacqueline, Barrowdale, Daniel, Antoniou, Antonis C, Berg, Jonathan N

“…Colorectal cancer (CRC) risk is well defined for families of patients with classical familial adenomatous polyposis (FAP). However, the risk for those with an…”
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Assessing the effectiveness of NICE criteria for stratifying breast cancer risk in a UK cohort by Littlejohn, Lucy A, Gibbs, Jim, Jordan, Lee B, Miedzybrodzka, Zosia H, Bell, Christine, Goudie, David, Dunlop, Jacqueline, Berg, Jonathan N

“…Breast cancer risk is a common indication for referral to clinical genetics services. UK National Institute of Health and Care Excellence (NICE) guidelines use…”
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De novo and biallelic DEAF1 variants cause a phenotypic spectrum by Nabais Sá, Maria J., Jensik, Philip J., McGee, Stacey R., Parker, Michael J., Lahiri, Nayana, McNeil, Evan P., Kroes, Hester Y., Hagerman, Randi J., Harrison, Rachel E., Montgomery, Tara, Splitt, Miranda, Palmer, Elizabeth E., Sachdev, Rani K., Mefford, Heather C., Scott, Abbey A., Martinez-Agosto, Julian A., Lorenz, Rüdiger, Orenstein, Naama, Berg, Jonathan N., Amiel, Jeanne, Heron, Delphine, Keren, Boris, Cobben, Jan-Maarten, Menke, Leonie A., Marco, Elysa J., Graham, John M., Pierson, Tyler Mark, Karimiani, Ehsan Ghayoor, Maroofian, Reza, Manzini, M. Chiara, Cauley, Edmund S., Colombo, Roberto, Odent, Sylvie, Dubourg, Christele, Phornphutkul, Chanika, de Brouwer, Arjan P.M., de Vries, Bert B.A., Vulto-vanSilfhout, Anneke T.

“…To investigate the effect of different DEAF1 variants on the phenotype of patients with autosomal dominant and recessive inheritance patterns and on DEAF1…”
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Pathogenicity and Penetrance of Germline SDHA Variants in Pheochromocytoma and Paraganglioma (PPGL) by Maniam, Pavithran, Zhou, Kaixin, Lonergan, Mike, Berg, Jonathan N, Goudie, David R, Newey, Paul J

“…Abstract Germline SDHA mutations are reported in a minority of pheochromocytoma/paraganglioma (PPGL) cases but are associated with an increased risk of…”
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Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles by Gallione, Carol J., Klaus, Daniel J., Yeh, Eric Y., Stenzel, Timothy T., Xue, Yan, Anthony, Kara B., McAllister, Kimberly A., Baldwin, Melanie A., Berg, Jonathan N., Lux, Andreas, Smith, Joshua D., Vary, Calvin P. H., Craigen, William J., Westermann, CJJ, Warner, Mary L., Miller, York E., Jackson, C. Eugene, Guttmacher, Alan E., Marchuk, Douglas A.

“…Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by multisystemic vascular dysplasia and recurrent hemorrhage from…”
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Utility of Population-Level DNA Sequence Data in the Diagnosis of Hereditary Endocrine Disease by Newey, Paul J, Berg, Jonathan N, Zhou, Kaixin, Palmer, Colin N A, Thakker, Rajesh V

“…Genetic testing is increasingly used for clinical diagnosis, although variant interpretation presents a major challenge because of high background rates of…”
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Lifestyle Changes in Women at Genetic Risk of Breast Cancer: an Observational Study by McLeish, Lorna, Reis, Marta M., Stewart, Clare, Goudie, David R., Berg, Jonathan N., Harvie, Michelle, Hanning, Kirstie A., Vysny, Helen, Steel, C. Michael

“…Background Lifestyle influences breast cancer risk. Women at increased familial risk may benefit from modifying behaviour, but it is not known to what extent…”
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Human retroviral gag- and gag-pol-like proteins interact with the transforming growth factor-beta receptor activin receptor-like kinase 1 by Lux, Andreas, Beil, Christian, Majety, Meher, Barron, Suzanne, Gallione, Carol J, Kuhn, Hella-Monika, Berg, Jonathan N, Kioschis, Petra, Marchuk, Douglas A, Hafner, Mathias

“…Mutations in activin receptor-like kinase 1 (ALK1), a transforming growth factor (TGF)-beta type I receptor, lead to the vascular disorder hereditary…”
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The Activin Receptor-Like Kinase 1 Gene: Genomic Structure and Mutations in Hereditary Hemorrhagic Telangiectasia Type 2 by Berg, Jonathan N., Gallione, Carol J., Stenzel, Timothy T., Johnson, David W., Allen, William P., Schwartz, Charles E., Jackson, Charles E., Porteous, Mary E.M., Marchuk, Douglas A.

“…The activin receptor-like kinase 1 gene (ALK-1) is the second locus for the autosomal dominant vascular disease hereditary hemorrhagic telangiectasia (HHT). In…”
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A boy with supernumerary mosaic trisomy 19q, involving 19q13.11–19q13.2, with macrocephaly, obesity and mild facial dysmorphism by Hall, Catriona E.J., Cunningham, Joan J.P., Hislop, Robert G., Berg, Jonathan N.

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Allelic and Locus Heterogeneity in Inherited Venous Malformations by Calvert, Jennifer T., Riney, Travis J., Kontos, Christopher D., Cha, Eugene H., Prieto, Victor G., Shea, Christopher R., Berg, Jonathan N., Nevin, Norman C., Simpson, Sheila A., Pasyk, Krystyna A., Speer, Marcy C., Peters, Kevin G., Marchuk, Douglas A.

“…Venous malformations are low-flow vascular lesions consisting of disorganized thin-walled vascular channels. These can occur sporadically but also as an…”
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Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function by McAllister, K A, Baldwin, M A, Thukkani, A K, Gallione, C J, Berg, J N, Porteous, M E, Guttmacher, A E, Marchuk, D A

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EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations by Eggens, Veerle Rc, Barth, Peter G, Niermeijer, Jikke-Mien F, Berg, Jonathan N, Darin, Niklas, Dixit, Abhijit, Fluss, Joel, Foulds, Nicola, Fowler, Darren, Hortobágyi, Tibor, Jacques, Thomas, King, Mary D, Makrythanasis, Periklis, Máté, Adrienn, Nicoll, James A R, O'Rourke, Declan, Price, Sue, Williams, Andrew N, Wilson, Louise, Suri, Mohnish, Sztriha, Laszlo, Dijns-de Wissel, Marit B, van Meegen, Mia T, van Ruissen, Fred, Aronica, Eleonora, Troost, Dirk, Majoie, Charles Blm, Marquering, Henk A, Poll-Thé, Bwee Tien, Baas, Frank

“…Pontocerebellar hypoplasia (PCH) represents a group of neurodegenerative disorders with prenatal onset. Eight subtypes have been described thus far (PCH1-8)…”
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Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin? by Berg, J N, Guttmacher, A E, Marchuk, D A, Porteous, M E

“…Pulmonary arteriovenous malformations (PAVMs) occur in up to 27% of patients with hereditary haemorrhagic telangiectasia (HHT) and are associated with a rate…”
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Human Retroviral gag- and gag-pol-like Proteins Interact with the Transforming Growth Factor-β Receptor Activin Receptor-like Kinase 1 by Andreas Lux, Christian Beil, Meher Majety, Suzanne Barron, Carol J. Gallione, Hella-Monika Kuhn, Jonathan N. Berg, Petra Kioschis, Douglas A. Marchuk, Mathias Hafner

“…Mutations in activin receptor-like kinase 1 (ALK1), a transforming growth factor (TGF)-β type I receptor, lead to the vascular disorder hereditary hemorrhagic…”
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