Now showing items 1-20 of 146

    • 27 years of prenatal diagnosis for Huntington disease in the United Kingdom. 

      Turnpenny, Peter D. (Nature, 2018-12-14)
      There is little long-term, population-based data on uptake of prenatal diagnosis for Huntington disease (HD), a late-onset autosomal dominant neurodegenerative disorder, and the effect of the availability of preimplantation ...
    • Abnormal splicing of hepatocyte nuclear factor 1 alpha in maturity-onset diabetes of the young. 

      Bulman, M. P.; Harries, L. W.; Hansen, T.; Shepherd, Maggie; Kelly, W. F.; Hattersley, Andrew T.; Ellard, Sian (Springer, 2002-10)
      Mutations in the HNF-1 alpha gene result in maturity-onset diabetes of the young (MODY); an early-onset, dominantly inherited form of diabetes caused by pancreatic beta-cell dysfunction. Splice site mutations represent ...
    • Alcohol consumption, cigarette smoking, and risk of breast cancer for BRCA1 and BRCA2 mutation carriers: results from the BRCA1 and BRCA2 Cohort Consortium 

      Brewer, Carole (American Association for Cancer Research, 2020-02)
      Tobacco smoking and alcohol consumption have been intensively studied in the general population to assess their effects on the risk of breast cancer, but very few studies have examined these effects in BRCA1 and BRCA2 ...
    • An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia 

      Rawlins, Lettie; Fasham, James; Ellard, Sian (Nature, 2019-01-08)
      The centrosomal protein 55 kDa (CEP55 (OMIM 610000)) plays a fundamental role in cell cycle regulation and cytokinesis. However, the precise role of CEP55 in human embryonic growth and development is yet to be fully defined. ...
    • Amniotic band sequence in paternal half-siblings with vascular Ehlers-Danlos Syndrome 

      Turnpenny, Peter D (Wiley, 2020-03)
      Familial amniotic band sequence (ABS) is rare but has been reported in the offspring of mothers with connective tissue disorders. We present a family of two half-siblings with ABS who share the same biological father. ...
    • AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 

      Rankin, Julia (Nature, 2019-07)
      AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at ...
    • Are genetic tests exceptional? Lessons from a qualitative study on thrombophilia. 

      Saukko, P. M.; Richards, S. H.; Shepherd, Maggie; Campbell, John L. (Elsevier, 2006-10)
      Policy makers have suggested that information about genetic risk factors, which are associated with low risk and for which preventive strategies exist, should not be considered "exceptional" and should not warrant special ...
    • Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3. 

      Hamdi, Y [et al]; Brewer, Carole (Springer, 2016-10-28)
      PURPOSE: Cis-acting regulatory SNPs resulting in differential allelic expression (DAE) may, in part, explain the underlying phenotypic variation associated with many complex diseases. To investigate whether common variants ...
    • Association of genomic domains in BRCA1 and BRCA2 with prostate cancer risk and aggressiveness 

      Brewer, Carole (HighWire, 2020-02)
      Pathogenic sequence variants (PSV) in BRCA1 or BRCA2 (BRCA1/2) are associated with increased risk and severity of prostate cancer. We evaluated whether PSVs in BRCA1/2 were associated with risk of overall prostate cancer ...
    • Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer 

      Rebbeck, T. R.; Mitra, N.; Wan, F.; Sinilnikova, O. M.; Healey, S.; McGuffog, L.; Mazoyer, S.; Chenevix-Trench, G.; Easton, D. F.; Antoniou, A. C.; Nathanson, K. L.; Cimba Consortium; Laitman, Y.; Kushnir, A.; Paluch-Shimon, S.; Berger, R.; Zidan, J.; Friedman, E.; Ehrencrona, H.; Stenmark-Askmalm, M.; Einbeigi, Z.; Loman, N.; Harbst, K.; Rantala, J.; Melin, B.; Huo, D.; Olopade, O. I.; Seldon, J.; Ganz, P. A.; Nussbaum, R. L.; Chan, S. B.; Odunsi, K.; Gayther, S. A.; Domchek, S. M.; Arun, B. K.; Lu, K. H.; Mitchell, G.; Karlan, B. Y.; Walsh, C.; Lester, J.; Godwin, A. K.; Pathak, H.; Ross, E.; Daly, Mark B.; Whittemore, A. S.; John, E. M.; Miron, A.; Terry, M. B.; Chung, W. K.; Goldgar, D. E.; Buys, S. S.; Janavicius, R.; Tihomirova, L.; Tung, N.; Dorfling, C. M.; van Rensburg, E. J.; Steele, L.; Neuhausen, S. L.; Ding, Y. C.; Ejlertsen, B.; Gerdes, A. M.; Hansen, Tv; Ramon y Cajal, T.; Osorio, A.; Benitez, J.; Godino, J.; Tejada, M. I.; Duran, M.; Weitzel, J. N.; Bobolis, K. A.; Sand, S. R.; Fontaine, A.; Savarese, A.; Pasini, B.; Peissel, B.; Bonanni, B.; Zaffaroni, D.; Vignolo-Lutati, F.; Scuvera, G.; Giannini, G.; Bernard, L.; Genuardi, M.; Radice, P.; Dolcetti, R.; Manoukian, S.; Pensotti, V.; Gismondi, V.; Yannoukakos, D.; Fostira, F.; Garber, J.; Torres, D.; Rashid, M. U.; Hamann, U.; Peock, S.; Frost, D.; Platte, R.; Evans, D. G.; Eeles, R.; Davidson, R.; Eccles, D.; Cole, T.; Cook, J.; Brewer, Carole; Hodgson, S.; Morrison, P. J.; Walker, L.; Porteous, M. E.; Kennedy, M. J.; Izatt, L.; Adlard, J.; Donaldson, A.; Ellis, S.; Sharma, P.; Schmutzler, R. K.; Wappenschmidt, B.; Becker, A.; Rhiem, K.; Hahnen, E.; Engel, C.; Meindl, A.; Engert, S.; Ditsch, N.; Arnold, N.; Plendl, H. J.; Mundhenke, C.; Niederacher, D.; Fleisch, M.; Sutter, C.; Bartram, C. R.; Dikow, N.; Wang-Gohrke, S.; Gadzicki, D.; Steinemann, D.; Kast, K.; Beer, M.; Varon-Mateeva, R.; Gehrig, A.; Weber, B. H.; Stoppa-Lyonnet, D.; Sinilnikova, O. M.; Mazoyer, S.; Houdayer, C.; Belotti, M.; Gauthier-Villars, M.; Damiola, F.; Boutry-Kryza, N.; Lasset, C.; Sobol, H.; Peyrat, J. P.; Muller, D.; Fricker, J. P.; Collonge-Rame, M. A.; Mortemousque, I.; Nogues, C.; Rouleau, E.; Isaacs, C.; De Paepe, A.; Poppe, B.; Claes, K.; De Leeneer, K.; Piedmonte, M.; Rodriguez, G.; Wakely, K.; Boggess, J.; Blank, S. V.; Basil, J.; Azodi, M.; Phillips, K. A.; Caldes, T.; de la Hoya, M.; Romero, A.; Nevanlinna, H.; Aittomaki, K.; van der Hout, A. H.; Hogervorst, F. B.; Verhoef, S.; Collee, J. M.; Seynaeve, C.; Oosterwijk, J. C.; Gille, J. J.; Wijnen, J. T.; Gomez Garcia, E. B.; Kets, C. M.; Ausems, M. G.; Aalfs, C. M.; Devilee, P.; Mensenkamp, A. R.; Kwong, A.; Olah, E.; Papp, J.; Diez, O.; Lazaro, C.; Darder, E.; Blanco, I.; Salinas, M.; Jakubowska, A.; Lubinski, J.; Gronwald, J.; Jaworska-Bieniek, K.; Durda, K.; Sukiennicki, G.; Huzarski, T.; Byrski, T.; Cybulski, C.; Toloczko-Grabarek, A.; Zlowocka-Perlowska, E.; Menkiszak, J.; Arason, A.; Barkardottir, R. B.; Simard, J.; Laframboise, R.; Montagna, M.; Agata, S.; Alducci, E.; Peixoto, A.; Teixeira, M. R.; Spurdle, A. B.; Lee, M. H.; Park, S. K.; Kim, S. W.; Friebel, T. M.; Couch, F. J.; Lindor, N. M.; Pankratz, V. S.; Guidugli, L.; Wang, X.; Tischkowitz, M.; Foretova, L.; Vijai, J.; Offit, K.; Robson, M.; Rau-Murthy, R.; Kauff, N.; Fink-Retter, A.; Singer, C. F.; Rappaport, C.; Gschwantler-Kaulich, D.; Pfeiler, G.; Tea, M. K.; Berger, A.; Greene, M. H.; Mai, P. L.; Imyanitov, E. N.; Toland, A. E.; Senter, L.; Bojesen, A.; Pedersen, I. S.; Skytte, A. B.; Sunde, L.; Thomassen, M.; Moeller, S. T.; Kruse, T. A.; Jensen, U. B.; Caligo, M. A.; Aretini, P.; Teo, S. H.; Selkirk, C. G.; Hulick, P. J.; Andrulis, I. (JAMA, 2015-04-07)
      IMPORTANCE: Limited information about the relationship between specific mutations in BRCA1 or BRCA2 (BRCA1/2) and cancer risk exists. OBJECTIVE: To identify mutation-specific cancer risks for carriers of BRCA1/2. DESIGN, ...
    • Baraitser-Winter Cerebrofrontofacial Syndrome. 

      Yates, T M; Turner, Claire L.; Firth, H V; Berg, J; Pilz, D T (Wiley, 2016-09-13)
      Baraitser-Winter Cerebrofrontofacial syndrome (BWCFF) [BRWS; MIM #243310, 614583] is a rare developmental disorder affecting multiple organ systems. It is characterised by intellectual disability (mild to severe) and ...
    • BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan 

      Crosby, Andrew; Baple, Emma L. (Wiley, 2019-11)
      Ciliopathies are a clinically and genetically heterogeneous group of disorders often exhibiting phenotypic overlap and caused by abnormalities in the structure or function of cellular cilia. As such, a precise molecular ...
    • BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription 

      Dias, C.; Estruch, S. B.; Graham, S. A.; McRae, J.; Sawiak, S. J.; Hurst, J. A.; Joss, S. K.; Holder, S. E.; Morton, J. E.V.; Turner, Claire L.; Thevenon, J.; Mellul, K.; Sánchez-Andrade, G.; Ibarra-Soria, X.; Deriziotis, P.; Santos, R. F.; Lee, S-C.; Faivre, L.; Kleefstra, T.; Liu, P.; Hurles, M. E.; Fisher, S.E.; Logan, D.W. (Elsevier, 2016-07-21)
      Intellectual disability (ID) is a common condition with considerable genetic heterogeneity. Next-generation sequencing of large cohorts has identified an increasing number of genes implicated in ID, but their roles in ...
    • Beta-cell dysfunction, insulin sensitivity, and glycosuria precede diabetes in hepatocyte nuclear factor-1alpha mutation carriers. 

      Stride, A.; Ellard, Sian; Clark, P.; Shakespeare, L.; Salzmann, Maurice B.; Shepherd, Maggie; Hattersley, Andrew T. (Highwire, 2005-07)
      Patients with diabetes due to hepatocyte nuclear factor (HNF)-1alpha mutations have beta-cell deficiency, insulin sensitivity, altered proinsulin levels, and a low renal threshold for glucose. It is uncertain how many of ...
    • beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors. 

      Frayling, T. M.; Evans, J. C.; Bulman, M. P.; Pearson, E. R.; Allen, Louisa; Owen, K.; Bingham, Coralie; Hannemann, Michael; Shepherd, Maggie; Ellard, Sian; Hattersley, Andrew T. (Highwire, 2001-02)
      beta-Cell transcription factor genes are important in the pathophysiology of the beta-cell, with mutations in hepatocyte nuclear factor (HNF)-1alpha, HNF-4alpha, insulin promoter factor (IPF)-1, HNF-1beta, and NeuroD1/BETA2, ...
    • Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function. 

      Xu, Z.[et al]; Turnpenny, Peter D. (Cell Press, 2018-07-05)
      The tRNA synthetases catalyze the first step of protein synthesis and have increasingly been studied for their nuclear and extra-cellular ex-translational activities. Human genetic conditions such as Charcot-Marie-Tooth ...
    • Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus. 

      Sansbury, F. H.; Kirel, B.; Caswell, Richard C.; Allen, H. L.; Flanagan, Sarah; Hattersley, Andrew T.; Ellard, Sian; Shaw-Smith, Charles (Nature, 2015-12)
      Neonatal diabetes is a highly genetically heterogeneous disorder. There are over 20 distinct syndromic and non-syndromic forms, including dominant, recessive and X-linked subtypes. Biallelic truncating or mis-sense mutations ...
    • Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers 

      Peterlongo, P.; Chang-Claude, J.; Moysich, K. B.; Rudolph, A.; Schmutzler, R. K.; Simard, J.; Soucy, P.; Eeles, R. A.; Easton, D. F.; Hamann, U.; Wilkening, S.; Chen, B.; Rookus, M. A.; Schmidt, M. K.; van der Baan, F. H.; Spurdle, A. B.; Walker, L. C.; Lose, F.; Maia, A. T.; Montagna, M.; Matricardi, L.; Lubinski, J.; Jakubowska, A.; Gomez Garcia, E. B.; Olopade, O. I.; Nussbaum, R. L.; Nathanson, K. L.; Domchek, S. M.; Rebbeck, T. R.; Arun, B. K.; Karlan, B. Y.; Orsulic, S.; Lester, J.; Chung, W. K.; Miron, A.; Southey, M. C.; Goldgar, D. E.; Buys, S. S.; Janavicius, R.; Dorfling, C. M.; van Rensburg, E. J.; Ding, Y. C.; Neuhausen, S. L.; Hansen, T. V.; Gerdes, A. M.; Ejlertsen, B.; Jonson, L.; Osorio, A.; Martinez-Bouzas, C.; Benitez, J.; Conway, E. E.; Blazer, K. R.; Weitzel, J. N.; Manoukian, S.; Peissel, B.; Zaffaroni, D.; Scuvera, G.; Barile, M.; Ficarazzi, F.; Mariette, F.; Fortuzzi, S.; Viel, A.; Giannini, G.; Papi, L.; Martayan, A.; Tibiletti, M. G.; Radice, P.; Vratimos, A.; Fostira, F.; Garber, J. E.; Donaldson, A.; Brewer, Carole; Foo, C.; Evans, D. G.; Frost, D.; Eccles, D.; Brady, A.; Cook, J.; Tischkowitz, M.; Adlard, J.; Barwell, J.; Walker, L.; Izatt, L.; Side, L. E.; Kennedy, M. J.; Rogers, M. T.; Porteous, M. E.; Morrison, P. J.; Platte, R.; Davidson, R.; Hodgson, S. V.; Ellis, S.; Cole, T.; Embrace,; Godwin, A. K.; Claes, K.; Van Maerken, T.; Meindl, A.; Gehrig, A.; Sutter, C.; Engel, C.; Niederacher, D.; Steinemann, D.; Plendl, H.; Kast, K.; Rhiem, K.; Ditsch, N.; Arnold, N.; Varon-Mateeva, R.; Wappenschmidt, B.; Wang-Gohrke, S.; Bressac-de Paillerets, B.; Buecher, B.; Delnatte, C.; Houdayer, C.; Stoppa-Lyonnet, D.; Damiola, F.; Coupier, I.; Barjhoux, L.; Venat-Bouvet, L.; Golmard, L.; Boutry-Kryza, N.; Sinilnikova, O. M.; Caron, O.; Pujol, P.; Mazoyer, S.; Belotti, M.; Gemo Study Collaborators; Piedmonte, M.; Friedlander, M. L.; Rodriguez, G. C.; Copeland, L. J.; de la Hoya, M.; Segura, P. P.; Nevanlinna, H.; Aittomaki, K.; van Os, T. A.; Meijers-Heijboer, H. E.; van der Hout, A. H.; Vreeswijk, M. P.; Hoogerbrugge, N.; Ausems, M. G.; van Doorn, H. C.; Collee, J. M.; Hebon,; Olah, E.; Diez, O.; Blanco, I.; Lazaro, C.; Brunet, J.; Feliubadalo, L.; Cybulski, C.; Gronwald, J.; Durda, K.; Jaworska-Bieniek, K.; Sukiennicki, G.; Arason, A.; Chiquette, J.; Teixeira, M. R.; Olswold, C.; Couch, F. J.; Lindor, N. M.; Wang, X.; Szabo, C. I.; Offit, K.; Corines, M.; Jacobs, L.; Robson, M. E.; Zhang, L.; Joseph, V.; Berger, A.; Singer, C. F.; Rappaport, C.; Kaulich, D. G.; Pfeiler, G.; Tea, M. K.; Phelan, C. M.; Greene, M. H.; Mai, P. L.; Rennert, G.; Mulligan, A. M.; Glendon, G.; Tchatchou, S.; Andrulis, I. L.; Toland, A. E.; Bojesen, A.; Pedersen, I. S.; Thomassen, M.; Jensen, U. B.; Laitman, Y.; Rantala, J.; von Wachenfeldt, A.; Ehrencrona, H.; Askmalm, M. S.; Borg, A.; Kuchenbaecker, K. B.; McGuffog, L.; Barrowdale, D.; Healey, S.; Lee, A.; Pharoah, P. D.; Chenevix-Trench, G.; K. ConFab Investigators; Antoniou, A. C.; Friedman, E. (Cancer Epidemiol Biomarkers Prev, 2015-01-01)
      BACKGROUND: BRCA1 and BRCA2 mutation carriers are at substantially increased risk for developing breast and ovarian cancer. The incomplete penetrance coupled with the variable age at diagnosis in carriers of the same ...
    • CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language 

      Snidjers Blok, L [et al]; Rankin, Julia (Nature, 2018-11)
      Chromatin remodeling is of crucial importance during brain development. Pathogenic alterations of several chromatin remodeling ATPases have been implicated in neurodevelopmental disorders. We describe an index case with a ...
    • The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis 

      Turnpenny, Peter (Nature, 2019-08-07)
      Sifrim-Hitz-Weiss syndrome (SIHIWES) is a recently described multisystemic neurodevelopmental disorder caused by de novo variants in CHD4. In this study, we investigated the clinical spectrum of the disorder, genotype-phenotype ...