Search Results - "Bunyan, J"

Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis by Gast, Christine, Pengelly, Reuben J, Lyon, Matthew, Bunyan, David J, Seaby, Eleanor G, Graham, Nikki, Venkat-Raman, Gopalakrishnan, Ennis, Sarah

“…Multiple genes underlying focal segmental glomerulosclerosis (FSGS) and/or steroid-resistant nephrotic syndrome (SRNS) have been identified, with the recent…”
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A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end‐stage kidney disease by Seaby, Eleanor G., Turner, Steven, Bunyan, David J., Seyed‐Rezai, Fariba, Essex, Jonathan, Gilbert, Rodney D., Ennis, Sarah

“…Renal Fanconi syndrome (RFS) is a generalised disorder of the proximal convoluted tubule. Many genes have been associated with RFS including those that cause…”
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Predicting the impact of rare variants on RNA splicing in CAGI6 by Lord, Jenny, Oquendo, Carolina Jaramillo, Wai, Htoo A, Douglas, Andrew G L, Bunyan, David J, Wang, Yaqiong, Hu, Zhiqiang, Zeng, Zishuo, Danis, Daniel, Katsonis, Panagiotis, Williams, Amanda, Lichtarge, Olivier, Chang, Yuchen, Bagnall, Richard D, Mount, Stephen M, Matthiasardottir, Brynja, Lin, Chiaofeng, Hansen, Thomas van Overeem, Leman, Raphael, Martins, Alexandra, Houdayer, Claude, Krieger, Sophie, Bakolitsa, Constantina, Peng, Yisu, Kamandula, Akash, Radivojac, Predrag, Baralle, Diana

“…Variants which disrupt splicing are a frequent cause of rare disease that have been under-ascertained clinically. Accurate and efficient methods to predict a…”
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Apparent Homozygosity for a gr/gr AZFc Deletion in A 47,XYY Man with Oligozoospermia and Secondary Infertility by J. Bunyan, David J. Bunyan, Saran, Mili, I Hobbs, James, J Anderson, David, J. Duncan-Flavell, Philippa, J Howarth, Rachel, L.A. Callaway, Jonathan, N MacPherson, James

“…Background: Approximately 1 in 1000 men have a 47,XYY karyotype. Previous publications have presented cases of infertile XYY men and have suggested that the…”
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Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach by Jaramillo Oquendo, Carolina, Wai, Htoo A, Rich, Wil I, Bunyan, David J, Thomas, N Simon, Hunt, David, Lord, Jenny, Douglas, Andrew G L, Baralle, Diana

“…RNA sequencing (RNA-seq) is increasingly being used as a complementary tool to DNA sequencing in diagnostics where DNA analysis has been uninformative. RNA-seq…”
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Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease by Gast, Christine, Marinaki, Anthony, Arenas-Hernandez, Monica, Campbell, Sara, Seaby, Eleanor G, Pengelly, Reuben J, Gale, Daniel P, Connor, Thomas M, Bunyan, David J, Hodaňová, Kateřina, Živná, Martina, Kmoch, Stanislav, Ennis, Sarah, Venkat-Raman, G

“…Autosomal dominant tubulointerstitial kidney disease (ADTKD) caused by mutations in the UMOD gene (ADTKD-UMOD) is considered rare and often remains…”
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Screening of a large Rubinstein–Taybi cohort identified many novel variants and emphasizes the importance of the CREBBP histone acetyltransferase domain by Cross, Esther, Duncan‐Flavell, Philippa J., Howarth, Rachel J., Hobbs, James I., Thomas, Nicholas Simon, Bunyan, David J.

“…Pathogenic variants within the CREBBP and EP300 genes account for the majority of individuals with Rubinstein–Taybi syndrome (RSTS). Data are presented from a…”
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Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification by BUNYAN, D. J, ECCLES, D. M, CROSS, N. C. P, SILLIBOURNE, J, WILKINS, E, THOMAS, N. Simon, SHEA-SIMONDS, J, DUNCAN, P. J, CURTIS, C. E, ROBINSON, D. O, HARVEY, J. F

“…Multiplex ligation-dependent probe amplification (MLPA) is a recently described method for detecting gross deletions or duplications of DNA sequences,…”
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Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature by Bunyan, David J., Baffico, Maria, Capone, Lucia, Vannelli, Silvia, Iughetti, Lorenzo, Schmitt, Sébastien, Taylor, Emma-Jane, Herridge, Adam A., Shears, Deborah, Forabosco, Antonino, Coviello, Domenico A.

“…Leri–Weill dyschondrosteosis is a pseudoautosomal dominantly‐inherited skeletal dysplasia ascribed to haploinsufficiency of the SHOX gene caused by deletions,…”
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SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions by Bakrania, P, Robinson, D O, Bunyan, D J, Salt, A, Martin, A, Crolla, J A, Wyatt, A, Fielder, A, Ainsworth, J, Moore, A, Read, S, Uddin, J, Laws, D, Pascuel-Salcedo, D, Ayuso, C, Allen, L, Collin, J R O, Ragge, N K

“…Background:Developmental eye anomalies, which include anophthalmia (absent eye) or microphthalmia (small eye) are an important cause of severe visual…”
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Rare dosage abnormalities flanking the SHOX gene by Bunyan, David J, Gevers, Evelien, Hobbs, James I, Duncan-Flavell, Philippa J, Howarth, Rachel J, Holder-Espinasse, Muriel, Klee, Philippe

“…Background Transcriptional regulation of the SHOX gene is highly complex. Much of our understanding has come from the study of copy number changes of conserved…”
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Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum by Girirajan, Santhosh, Vlangos, Christopher N, Szomju, Barbara B, Edelman, Emily, Trevors, Christopher D, Dupuis, Lucie, Nezarati, Marjan, Bunyan, David J, Elsea, Sarah H

“…Smith-Magenis syndrome (SMS) is a complex disorder that includes mental retardation, craniofacial and skeletal anomalies, and behavioral abnormalities. We…”
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An intronic polymorphic deletion in the PTEN gene: implications for molecular diagnostic testing by Sandell, S, Schuit, R J L, Bunyan, D J

“…Background: A cohort of 629 patients with suspected Bannayan–Riley–Ruvalcaba syndrome or Cowden syndrome was tested for mutations in the PTEN gene. Methods:…”
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Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature by Thomas, N. Simon, Harvey, John F., Bunyan, David J., Rankin, Julia, Grigelioniene, Giedre, Bruno, Damien L., Tan, Tiong Y., Tomkins, Susan, Hastings, Robert

“…Deletions of the SHOX gene are well documented and cause disproportionate short stature and variable skeletal abnormalities. In contrast interstitial SHOX…”
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Mutations in BMP4 Cause Eye, Brain, and Digit Developmental Anomalies: Overlap between the BMP4 and Hedgehog Signaling Pathways by Bakrania, Preeti, Efthymiou, Maria, Klein, Johannes C., Salt, Alison, Bunyan, David J., Wyatt, Alex, Ponting, Chris P., Martin, Angela, Williams, Steven, Lindley, Victoria, Gilmore, Joanne, Restori, Marie, Robson, Anthony G., Neveu, Magella M., Holder, Graham E., Collin, J Richard O., Robinson, David O., Farndon, Peter, Johansen-Berg, Heidi, Gerrelli, Dianne, Ragge, Nicola K.

“…Developmental ocular malformations, including anophthalmia-microphthalmia (AM), are heterogeneous disorders with frequent sporadic or non-Mendelian…”
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Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus by MACKAY, D. J. G, HAHNEMANN, J. M. D, CLAYTON-SMITH, J, TEMPLE, I. K, BOONEN, S. E, POERKSEN, S, BUNYAN, D. J, WHITE, H. E, DURSTON, V. J, THOMAS, N. S, ROBINSON, D. O, SHIELD, J. P. H

“…Transient neonatal diabetes mellitus (TNDM) is characterised by intra-uterine growth retardation, while Beckwith-Wiedemann syndrome (BWS) is a clinically…”
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Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance by Wai, Htoo A., Lord, Jenny, Lyon, Matthew, Gunning, Adam, Kelly, Hugh, Cibin, Penelope, Seaby, Eleanor G., Spiers-Fitzgerald, Kerry, Lye, Jed, Ellard, Sian, Thomas, N. Simon, Bunyan, David J., Douglas, Andrew G. L., Baralle, Diana

“…Purpose Diagnosis of genetic disorders is hampered by large numbers of variants of uncertain significance (VUSs) identified through next-generation sequencing…”
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PSEUDODOMINANT INHERITANCE OF SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY by TERRACCIANO, A, FOULDS, N. C, DITCHFIELD, A, BUNYAN, D. J, CROLLA, J. A, HUANG, S, SANTORELLI, F. M, HAMMANS, S. R

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Screening of a large cohort of blepharophimosis, ptosis, and epicanthus inversus syndrome patients reveals a very strong paternal inheritance bias and a wide spectrum of novel FOXL2 mutations by Bunyan, David J., Thomas, N. Simon

“…Blepharophimosis, Ptosis, and Epicanthus inversus Syndrome (BPES) is caused by autosomal dominant mutations in FOXL2. There are two forms of BPES: type I (with…”
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Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy by Turner, C.L.S., Emery, H., Collins, A.L., Howarth, R.J., Yearwood, C.M., Cross, E., Duncan, P.J., Bunyan, D.J., Harvey, J.F., Foulds, N.C.

“…Mutations in the gene encoding fibrillin 1 (FBN1) cause Marfan syndrome (MFS), and related connective tissue disorders. The disease spectrum is wide and while…”
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