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Transferability of genetic loci and polygenic scores for cardiometabolic traits in British Pakistani and Bangladeshi individuals.
Published in:
Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-32095-5
By:
- Huang, Qin Qin;
- Sallah, Neneh;
- Dunca, Diana;
- Trivedi, Bhavi;
- Hunt, Karen A.;
- Hodgson, Sam;
- Lambert, Samuel A.;
- Arciero, Elena;
- Wright, John;
- Griffiths, Chris;
- Trembath, Richard C.;
- Hemingway, Harry;
- Inouye, Michael;
- Finer, Sarah;
- van Heel, David A.;
- Lumbers, R. Thomas;
- Martin, Hilary C.;
- Kuchenbaecker, Karoline
Publication type:
Article
A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-74
By:
- Morgan, Neil V.;
- Hartley, Jane L.;
- Setchell, Kenneth D. R.;
- Simpson, Michael A.;
- Brown, Rachel;
- Tee, Louise;
- Kirkham, Sian;
- Pasha, Shanaz;
- Trembath, Richard C.;
- Maher, Eamonn R.;
- Gissen, Paul;
- Kelly, Deirdre A.
Publication type:
Article
A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease.
Published in:
2013
By:
- Morgan, Neil V;
- Hartley, Jane L;
- Setchell, Kenneth Dr;
- Simpson, Michael A;
- Brown, Rachel;
- Tee, Louise;
- Kirkham, Sian;
- Pasha, Shanaz;
- Trembath, Richard C;
- Maher, Eamonn R;
- Gissen, Paul;
- Kelly, Deirdre A;
- Setchell, Kenneth D R
Publication type:
journal article
Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH.
Published in:
Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00891-1
By:
- Zhu, Na;
- Swietlik, Emilia M.;
- Welch, Carrie L.;
- Pauciulo, Michael W.;
- Hagen, Jacob J.;
- Zhou, Xueya;
- Guo, Yicheng;
- Karten, Johannes;
- Pandya, Divya;
- Tilly, Tobias;
- Lutz, Katie A.;
- Martin, Jennifer M.;
- Treacy, Carmen M.;
- Rosenzweig, Erika B.;
- Krishnan, Usha;
- Coleman, Anna W.;
- Gonzaga-Jauregui, Claudia;
- Lawrie, Allan;
- Trembath, Richard C.;
- Wilkins, Martin R.
Publication type:
Article
Correction to: Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH.
Published in:
2021
By:
- Zhu, Na;
- Swietlik, Emilia M.;
- Welch, Carrie L.;
- Pauciulo, Michael W.;
- Hagen, Jacob J.;
- Zhou, Xueya;
- Guo, Yicheng;
- Karten, Johannes;
- Pandya, Divya;
- Tilly, Tobias;
- Lutz, Katie A.;
- Martin, Jennifer M.;
- Treacy, Carmen M.;
- Rosenzweig, Erika B.;
- Krishnan, Usha;
- Coleman, Anna W.;
- Gonzaga-Jauregui, Claudia;
- Lawrie, Allan;
- Trembath, Richard C.;
- Wilkins, Martin R.
Publication type:
Correction Notice
Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH.
Published in:
Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00891-1
By:
- Zhu, Na;
- Swietlik, Emilia M.;
- Welch, Carrie L.;
- Pauciulo, Michael W.;
- Hagen, Jacob J.;
- Zhou, Xueya;
- Guo, Yicheng;
- Karten, Johannes;
- Pandya, Divya;
- Tilly, Tobias;
- Lutz, Katie A.;
- Martin, Jennifer M.;
- Treacy, Carmen M.;
- Rosenzweig, Erika B.;
- Krishnan, Usha;
- Coleman, Anna W.;
- Gonzaga-Juaregui, Claudia;
- Lawrie, Allan;
- Trembath, Richard C.;
- Wilkins, Martin R.
Publication type:
Article
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).
Published in:
Nature Genetics, 2011, v. 43, n. 10, p. 929, doi. 10.1038/ng.923
By:
- Ostergaard, Pia;
- Simpson, Michael A;
- Connell, Fiona C;
- Steward, Colin G;
- Brice, Glen;
- Woollard, Wesley J;
- Dafou, Dimitra;
- Kilo, Tatjana;
- Smithson, Sarah;
- Lunt, Peter;
- Murday, Victoria A;
- Hodgson, Shirley;
- Keenan, Russell;
- Pilz, Daniela T;
- Martinez-Corral, Ines;
- Makinen, Taija;
- Mortimer, Peter S;
- Jeffery, Steve;
- Trembath, Richard C;
- Mansour, Sahar
Publication type:
Article
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss.
Published in:
Nature Genetics, 2011, v. 43, n. 4, p. 303, doi. 10.1038/ng.779
By:
- Simpson, Michael A.;
- Irving, Melita D.;
- Asilmaz, Esra;
- Gray, Mary J.;
- Dafou, Dimitra;
- Elmslie, Frances V.;
- Mansour, Sahar;
- Holder, Sue E.;
- Brain, Caroline E.;
- Burton, Barbara K.;
- Kim, Katherine H.;
- Pauli, Richard M.;
- Aftimos, Salim;
- Stewart, Helen;
- Kim, Chong Ae;
- Holder-Espinasse, Muriel;
- Robertson, Stephen P.;
- Drake, William M.;
- Trembath, Richard C.
Publication type:
Article
Corrigendum: PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.
Published in:
2006
By:
- Morgan, Neil V.;
- Westaway, Shawn K.;
- Morton, Jenny E. V.;
- Gregory, Allison;
- Gissen, Paul;
- Sonek, Scott;
- Cangul, Hakan;
- Coryell, Jason;
- Canham, Natalie;
- Nardocci, Nardo;
- Zorzi, Giovanna;
- Pasha, Shanaz;
- Rodriguez, Diana;
- Desguerre, Isabelle;
- Mubaidin, Amar;
- Bertini, Enrico;
- Trembath, Richard C.;
- Simonati, Alessandro;
- Schanen, Carolyn;
- Johnson, Colin A.
Publication type:
Correction Notice
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.
Published in:
Nature Genetics, 2006, v. 38, n. 7, p. 752, doi. 10.1038/ng1826
By:
- Morgan, Neil V.;
- Westaway, Shawn K.;
- Morton, Jenny E. V.;
- Gregory, Allison;
- Gissen, Paul;
- Sonek, Scott;
- Cangul, Hakan;
- Coryell, Jason;
- Canham, Natalie;
- Nardocci, Nardo;
- Zorzi, Giovanna;
- Pasha, Shanaz;
- Rodriguez, Diana;
- Desguerre, Isabelle;
- Mubaidin, Amar;
- Bertini, Enrico;
- Trembath, Richard C.;
- Simonati, Alessandro;
- Schanen, Carolyn;
- Johnson, Colin A.
Publication type:
Article
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.
Published in:
Nature Genetics, 2004, v. 36, n. 4, p. 400, doi. 10.1038/ng1325
By:
- Gissen, Paul;
- Johnson, Colin A.;
- Morgan, Neil V.;
- Stapelbroek, Janneke M.;
- Forshew, Tim;
- Cooper, Wendy N.;
- McKiernan, Patrick J.;
- Klomp, Leo W. J.;
- Morris, Andrew A. M.;
- Wraith, James E.;
- McClean, Patricia;
- Lynch, Sally A.;
- Thompson, Richard J.;
- Lo, Bryan;
- Quarrell, Oliver W.;
- Di Rocco, Maja;
- Trembath, Richard C.;
- Mandel, Hanna;
- Wali, S.;
- Karet, Fiona E.
Publication type:
Article
Genetic linkage of childhood atopic dermatitis to psoriasis susceptibility loci.
Published in:
Nature Genetics, 2001, v. 27, n. 4, p. 372, doi. 10.1038/86867
By:
- Cookson, William O.C.M.;
- Ubhi, Baljinder;
- Lawrence, Robert;
- Abecasis, Gonçalo R.;
- Walley, Andrew J.;
- Cox, Helen E.;
- Coleman, Rosemary;
- Leaves, Nicholas I.;
- Trembath, Richard C.;
- Moffatt, Miriam F.;
- Harper, John I.
Publication type:
Article
Heterozygous germline mutations in BMPR2, encoding a TGF-β receptor, cause familial primary pulmonary hypertension.
Published in:
Nature Genetics, 2000, v. 26, n. 1, p. 81, doi. 10.1038/79226
By:
- Lane, Kirk B.;
- Machado, Rajiv D.;
- Pauciulo, Michael W.;
- Thomson, Jennifer R.;
- Phillips III, John A.;
- Loyd, James E.;
- Nichols, William C.;
- Trembath, Richard C.
Publication type:
Article
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.
Published in:
Nature Genetics, 2000, v. 24, n. 2, p. 153, doi. 10.1038/72807
By:
- Shackleton, Sue;
- Lloyd, David J.;
- Jackson, Stephen N.J.;
- Evans, Richard;
- Niermeijer, Martinus F.;
- Singh, Baldev M.;
- Schmidt, Hartmut;
- Brabant, Georg;
- Kumar, Sudesh;
- Durrington, Paul N.;
- Gregory, Simon;
- O'Rahilly, Stephen;
- Trembath, Richard C.
Publication type:
Article
Germline FH mutations presenting with pheochromocytoma.
Published in:
2014
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
Publication type:
journal article
An In-Depth Characterization of the Major Psoriasis Susceptibility Locus Identifies Candidate Susceptibility Alleles within an HLA-C Enhancer Element.
Published in:
PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0071690
By:
- Clop, Alex;
- Bertoni, Anna;
- Spain, Sarah L.;
- Simpson, Michael A.;
- Pullabhatla, Venu;
- Tonda, Raul;
- Hundhausen, Christian;
- Di Meglio, Paola;
- De Jong, Pieter;
- Hayday, Adrian C.;
- Nestle, Frank O.;
- Barker, Jonathan N.;
- Bell, Robert J. A.;
- Capon, Francesca;
- Trembath, Richard C.
Publication type:
Article
The IL23R R381Q Gene Variant Protects against Immune-Mediated Diseases by Impairing IL-23-Induced Th17 Effector Response in Humans.
Published in:
PLoS ONE, 2011, v. 6, n. 2, p. 1, doi. 10.1371/journal.pone.0017160
By:
- Meglio, Paola Di;
- Cesare, Antonella Di;
- Laggner, Ute;
- Chung-Ching Chu;
- Napolitano, Luca;
- Villanova, Federica;
- Tosi, Isabella;
- Capon, Francesca;
- Trembath, Richard C.;
- Peris, Ketty;
- Nestle, Frank O.
Publication type:
Article
Mutations of the PDS Gene, Encoding Pendrin, Are Associated with Protein Mislocalization and Loss of Iodide Efflux: Implications for Thyroid Dysfunction in Pendred Syndrome.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 4, p. 1778, doi. 10.1210/jcem.87.4.8435
By:
- TAYLOR, JULIE P.;
- METCALFE, RUSSELL A.;
- WATSON, PHILIP F.;
- WEETMAN, ANTHONY P.;
- TREMBATH, RICHARD C.
Publication type:
Article
Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations.
Published in:
Human Genetics, 2005, v. 117, n. 5, p. 452, doi. 10.1007/s00439-005-1309-9
By:
- Forshew, Tim;
- Johnson, Colin A.;
- Khaliq, Shagufta;
- Pasha, Shanaz;
- Willis, Catherine;
- Abbasi, Rashida;
- Tee, Louise;
- Smith, Ursula;
- Trembath, Richard C.;
- Mehdi, Syed Qasim;
- Moore, Anthony T.;
- Maher, Eamonn R.
Publication type:
Article
Bronya J.B. Keats, Arthur N. Popper, Richard R. Fay (Editors) Springer handbook of auditory research: genetics and auditory disorders: Springer-Verlag, Berlin Heidelberg New York (2002), ISBN 0-387-98501-8, hardcover, 149.00 Euro, £140.50, 129.00 US$
Published in:
2004
By:
- Trembath, Richard C.
Publication type:
Book Review
A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.
Published in:
Human Genetics, 2002, v. 111, n. 4/5, p. 456, doi. 10.1007/s00439-002-0817-0
By:
- Morgan, Neil V.;
- Gissen, Paul;
- Sharif, Saghira;
- Baumber, Laura;
- Sutherland, Joan;
- Kelly, Deirdre A.;
- Aminu, Kingi;
- Bennett, Christopher P.;
- Woods, Geoffrey C.;
- Mueller, Robert F.;
- Trembath, Richard C.;
- Maher, Eamonn R.;
- Johnson, Colin A.
Publication type:
Article
Genome-wide meta-analysis implicates mediators of hair follicle development and morphogenesis in risk for severe acne.
Published in:
Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-07459-5
By:
- Petridis, Christos;
- Navarini, Alexander A.;
- Dand, Nick;
- Saklatvala, Jake;
- Baudry, David;
- Duckworth, Michael;
- Allen, Michael H.;
- Curtis, Charles J.;
- Sang Hyuck Lee;
- Burden, A. David;
- Layton, Alison;
- Bataille, Veronique;
- Pink, Andrew E.;
- Carlavan, Isabelle;
- Voegel, Johannes J.;
- Spector, Timothy D.;
- Trembath, Richard C.;
- McGrath, John A.;
- Smith, Catherine H.;
- Barker, Jonathan N.
Publication type:
Article
Pulmoner arteriyel hipertansiyonun genetik ve genomikleri.
Published in:
Archives of the Turkish Society of Cardiology / Türk Kardiyoloji Derneği Arşivi, 2014, v. 42, n. Supp 1, p. 143
By:
- Soubrier, Florent;
- Chung, Wendy K.;
- Machado, Rajiv;
- Grünig, Ekkehard;
- Aldred, Micheala;
- Geraci, Mark;
- Loyd, James E.;
- Elliott, C. Gregory;
- Trembath, Richard C.;
- Newman, John H.;
- Humbert, Marc
Publication type:
Article
Autozygosity mapping of Bardet–Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.
Published in:
European Journal of Human Genetics, 2007, v. 15, n. 2, p. 173, doi. 10.1038/sj.ejhg.5201736
By:
- White, Dominic R. A.;
- Ganesh, Anuradha;
- Nishimura, Darryl;
- Rattenberry, Eleanor;
- Ahmed, Shakeel;
- Smith, Ursula M.;
- Pasha, Shanaz;
- Raeburn, Sandy;
- Trembath, Richard C.;
- Rajab, Anna;
- Macdonald, Fiona;
- Banin, Eyal;
- Stone, Edwin M.;
- Johnson, Colin A.;
- Sheffield, Val C.;
- Maher, Eamonn R.
Publication type:
Article
Deficiency of terminal ADP-ribose protein glycohydrolase TARG1/C6orf130 in neurodegenerative disease.
Published in:
EMBO Journal, 2013, v. 32, n. 9, p. 1225, doi. 10.1038/emboj.2013.51
By:
- Sharifi, Reza;
- Morra, Rosa;
- Denise Appel, C;
- Tallis, Michael;
- Chioza, Barry;
- Jankevicius, Gytis;
- Simpson, Michael A;
- Matic, Ivan;
- Ozkan, Ege;
- Golia, Barbara;
- Schellenberg, Matthew J;
- Weston, Ria;
- Williams, Jason G;
- Rossi, Marianna N;
- Galehdari, Hamid;
- Krahn, Juno;
- Wan, Alexander;
- Trembath, Richard C;
- Crosby, Andrew H;
- Ahel, Dragana
Publication type:
Article
Inhibition of Overactive Transforming Growth Factor-β Signaling by Prostacyclin Analogs in Pulmonary Arterial Hypertension.
Published in:
American Journal of Respiratory Cell & Molecular Biology, 2013, v. 48, n. 6, p. 733, doi. 10.1165/rcmb.2012-0049OC
By:
- Takeshi Ogo;
- Chowdhury, H. M.;
- Jun Yang;
- Lu Long;
- Xiaohui Li;
- Torres Cleuren, Yamila N.;
- Morrell, Nicholas W.;
- Schermuly, Ralph T.;
- Trembath, Richard C.;
- Nasim, Md. Talat
Publication type:
Article
BMP4 Induces HO-1 via a Smad-Independent, p38MAPK -Dependent Pathway in Pulmonary Artery Myocytes.
Published in:
American Journal of Respiratory Cell & Molecular Biology, 2007, v. 37, n. 5, p. 598, doi. 10.1165/rcmb.2006-0360OC
By:
- Xudong Yang;
- Lee, Patty J.;
- Lu Long;
- Trembath, Richard C.;
- Morrell, Nicholas W.
Publication type:
Article
Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome.
Published in:
BMC Genomics, 2005, v. 6, p. 1, doi. 10.1186/1471-2164-6-38
By:
- Hearle, Nicholas CM;
- Tomlinson, Ian;
- Lim, Wendy;
- Murday, Victoria;
- Swarbrick, Edwin;
- Lim, Guan;
- Phillips, Robin;
- Lee, Peter;
- O'Donohue, John;
- Trembath, Richard C;
- Morrison, Patrick J;
- Norman, Andrew;
- Taylor, Rohan;
- Hodgson, Shirley;
- Lucassen, Anneke;
- Houlston, Richard S
Publication type:
Article
Integrating polygenic risk scores in the prediction of type 2 diabetes risk and subtypes in British Pakistanis and Bangladeshis: A population-based cohort study.
Published in:
PLoS Medicine, 2022, v. 19, n. 5, p. 1, doi. 10.1371/journal.pmed.1003981
By:
- Hodgson, Sam;
- Huang, Qin Qin;
- Sallah, Neneh;
- Griffiths, Chris J.;
- Newman, William G.;
- Trembath, Richard C.;
- Wright, John;
- Lumbers, R. Thomas;
- Kuchenbaecker, Karoline;
- van Heel, David A.;
- Mathur, Rohini;
- Martin, Hilary C.;
- Finer, Sarah;
- Genes & Health Research Team
Publication type:
Article
An analysis of IL-36 signature genes and individuals with IL1RL2 knockout mutations validates IL-36 as a psoriasis therapeutic target.
Published in:
Science Translational Medicine, 2017, v. 9, n. 411, p. 1, doi. 10.1126/scitranslmed.aan2514
By:
- Mahil, Satveer K.;
- Catapano, Marika;
- Di Meglio, Paola;
- Dand, Nick;
- Ahlfors, Helena;
- Carr, Ian M.;
- Smith, Catherine H.;
- Trembath, Richard C.;
- Peakman, Mark;
- Wright, John;
- Ciccarelli, Francesca D.;
- Barker, Jonathan N.;
- Capon, Francesca
Publication type:
Article
Activating CARD14 Mutations Are Associated with Generalized Pustular Psoriasis but Rarely Account for Familial Recurrence in Psoriasis Vulgaris.
Published in:
Journal of Investigative Dermatology, 2015, v. 135, n. 12, p. 2964, doi. 10.1038/jid.2015.288
By:
- Berki, Dorottya M;
- Liu, Lu;
- Choon, Siew-Eng;
- David Burden, A;
- Griffiths, Christopher E M;
- Navarini, Alexander A;
- Tan, Eugene S;
- Irvine, Alan D;
- Ranki, Annamari;
- Ogo, Takeshi;
- Petrof, Gabriela;
- Mahil, Satveer K;
- Duckworth, Michael;
- Allen, Michael H;
- Vito, Pasquale;
- Trembath, Richard C;
- McGrath, John;
- Smith, Catherine H;
- Capon, Francesca;
- Barker, Jonathan N
Publication type:
Article
Generalized Pustular Eruptions: Time to Adapt the Disease Taxonomy to the Genetic Architecture?
Published in:
Journal of Investigative Dermatology, 2014, v. 134, n. 2, p. 580, doi. 10.1038/jid.2013.349
By:
- Navarini, Alexander A;
- Valeyrie-Allanore, Laurence;
- Setta-Kaffetzi, Niovi;
- Barker, Jonathan N;
- Capon, Francesca;
- Creamer, Daniel;
- Roujeau, Jean-Claude;
- Sekula, Peggy;
- Simpson, Michael A;
- Trembath, Richard C;
- Mockenhaupt, Maja;
- Smith, Catherine H
Publication type:
Article
Loss of IL36RN Function Does Not Confer Susceptibility to Psoriasis Vulgaris.
Published in:
Journal of Investigative Dermatology, 2014, v. 134, n. 1, p. 271, doi. 10.1038/jid.2013.285
By:
- Berki, Dorottya M;
- Mahil, Satveer K;
- David Burden, A;
- Trembath, Richard C;
- Smith, Catherine H;
- Capon, Francesca;
- Barker, Jonathan N
Publication type:
Article
Rare Variations in IL36RN in Severe Adverse Drug Reactions Manifesting as Acute Generalized Exanthematous Pustulosis.
Published in:
Journal of Investigative Dermatology, 2013, v. 133, n. 7, p. 1904, doi. 10.1038/jid.2013.44
By:
- Navarini, Alexander A;
- Valeyrie-Allanore, Laurence;
- Setta-Kaffetzi, Niovi;
- Barker, Jonathan N;
- Capon, Francesca;
- Creamer, Daniel;
- Roujeau, Jean-Claude;
- Sekula, Peggy;
- Simpson, Michael A;
- Trembath, Richard C;
- Mockenhaupt, Maja;
- Smith, Catherine H
Publication type:
Article
Rare Pathogenic Variants in IL36RN Underlie a Spectrum of Psoriasis-Associated Pustular Phenotypes.
Published in:
Journal of Investigative Dermatology, 2013, v. 133, n. 5, p. 1366, doi. 10.1038/jid.2012.490
By:
- Setta-Kaffetzi, Niovi;
- Navarini, Alexander A;
- Patel, Varsha M;
- Pullabhatla, Venu;
- Pink, Andrew E;
- Choon, Siew-Eng;
- Allen, Michael A;
- Burden, A David;
- Griffiths, Christopher E M;
- Seyger, Marieke M B;
- Kirby, Brian;
- Trembath, Richard C;
- Simpson, Michael A;
- Smith, Catherine H;
- Capon, Francesca;
- Barker, Jonathan N
Publication type:
Article
γ-Secretase Mutations in Hidradenitis Suppurativa: New Insights into Disease Pathogenesis.
Published in:
Journal of Investigative Dermatology, 2013, v. 133, n. 3, p. 601, doi. 10.1038/jid.2012.372
By:
- Pink, Andrew E;
- Simpson, Michael A;
- Desai, Nemesha;
- Trembath, Richard C;
- Barker, Jonathan N W
Publication type:
Article
Mutations in the γ-Secretase Genes NCSTN, PSENEN, and PSEN1 Underlie Rare Forms of Hidradenitis Suppurativa (Acne Inversa).
Published in:
Journal of Investigative Dermatology, 2012, v. 132, n. 10, p. 2459, doi. 10.1038/jid.2012.162
By:
- Pink, Andrew E;
- Simpson, Michael A;
- Desai, Nemesha;
- Dafou, Dimitra;
- Hills, Alison;
- Mortimer, Peter;
- Smith, Catherine H;
- Trembath, Richard C;
- Barker, Jonathan N W
Publication type:
Article
Identification of Rare, Disease-Associated Variants in the Promoter Region of the RNF114 Psoriasis Susceptibility Gene.
Published in:
2012
By:
- Onoufriadis, Alexandros;
- Simpson, Michael A;
- Burden, A David;
- Barker, Jonathan N;
- Trembath, Richard C;
- Capon, Francesca
Publication type:
Letter
Psoriasis and Other Complex Trait Dermatoses: From Loci to Functional Pathways.
Published in:
Journal of Investigative Dermatology, 2012, v. 132, n. 3 part 2, p. 915, doi. 10.1038/jid.2011.395
By:
- Capon, Francesca;
- Burden, A David;
- Trembath, Richard C;
- Barker, Jonathan N
Publication type:
Article
Allele-Specific Cytokine Responses at the HLA-C Locus: Implications for Psoriasis.
Published in:
Journal of Investigative Dermatology, 2012, v. 132, n. 3 part 1, p. 635, doi. 10.1038/jid.2011.378
By:
- Hundhausen, Christian;
- Bertoni, Anna;
- Mak, Rose K;
- Botti, Elisabetta;
- Di Meglio, Paola;
- Clop, Alex;
- Laggner, Ute;
- Chimenti, Sergio;
- Hayday, Adrian C;
- Barker, Jonathan N;
- Trembath, Richard C;
- Capon, Francesca;
- Nestle, Frank O
Publication type:
Article
PSENEN and NCSTN Mutations in Familial Hidradenitis Suppurativa (Acne Inversa).
Published in:
2011
By:
- Pink, Andrew E.;
- Simpson, Michael A.;
- Brice, Glen W.;
- Smith, Catherine H.;
- Desai, Nemesha;
- Mortimer, Peter S.;
- Barker, Jonathan N. W. N.;
- Trembath, Richard C.
Publication type:
Letter
Prevalent and Low-Frequency Null Mutations in the Filaggrin Gene Are Associated with Early-Onset and Persistent Atopic Eczema.
Published in:
2008
By:
- Brown, Sara J.;
- Sandilands, Aileen;
- Yiwei Zhao;
- Haihui Liao;
- Relton, Caroline L.;
- Meggitt, Simon J.;
- Trembath, Richard C.;
- Barker, Jonathan N. W. N.;
- Reynolds, Nick J.;
- Cordell, Heather J.;
- McLean, W. H. Irwin
Publication type:
Letter
Filaggrin Null Alleles Are Not Associated with Psoriasis.
Published in:
Journal of Investigative Dermatology, 2007, v. 127, n. 8, p. 1878, doi. 10.1038/sj.jid.5700817
By:
- Yiwei Zhao;
- Terron-Kwiatkowski, Ana;
- Haihui Liao;
- Lee, Simon P.;
- Allen, Michael H.;
- Hull, Peter R.;
- Campbell, Linda E.;
- Trembath, Richard C.;
- Capon, Francesca;
- Griffiths, Christopher E. M.;
- Burden, David;
- McManus, Ross;
- Hughes, Rosalind;
- Kirby, Brian;
- Rogers, Sarah F.;
- Fitzgerald, Oliver;
- Kane, David;
- Barker, Jonathan N. W. N.;
- Palmer, Colin N. A.;
- Irvine, Alan D.
Publication type:
Article
Null Mutations in the Filaggrin Gene (FLG) Determine Major Susceptibility to Early-Onset Atopic Dermatitis that Persists into Adulthood.
Published in:
Journal of Investigative Dermatology, 2007, v. 127, n. 3, p. 564, doi. 10.1038/sj.jid.5700587
By:
- Barker, Jonathan N. W. N.;
- Palmer, Colin N. A.;
- Yiwei Zhao;
- Haihui Liao;
- Hull, Peter R.;
- Lee, Simon P;
- Allen, Michael H.;
- Meggitt, Simon J.;
- Reynolds, Nicholas J.;
- Trembath, Richard C.;
- McLean, W. H. Irwin
Publication type:
Article
Absence of Association Between Asthma and High Serum Immunoglobulin E Associated GPRA Haplotypes and Adult Atopic Dermatitis.
Published in:
2005
By:
- Veal, Cohn D.;
- Reynolds, Nick J.;
- Meggitt, Simon J.;
- Allen, Michael H.;
- Lindgren, Cecilia M.;
- Kere, Juha;
- Trembath, Richard C.;
- Barker, Jonathan N. W. N.
Publication type:
Letter
The Major Psoriasis Susceptibility Locus PSORS1 Is not a Risk Factor for Late-Onset Psoriasis.
Published in:
Journal of Investigative Dermatology, 2005, v. 124, n. 1, p. 103, doi. 10.1111/j.0022-202X.2004.23511.x
By:
- Allen, Michael Hugh;
- Ameen, Hahreen;
- Veal, Colin;
- Evans, Julie;
- Ramrakha-Jones, V. S.;
- Marsland, A. M.;
- Burden, A. David;
- Griffiths, C. E. M.;
- Trembath, Richard C.;
- Barker, Jonathan N. W. N.
Publication type:
Article
Meta-Analysis of Genome-Wide Studies of Psoriasis Susceptibility Reveals Linkage to Chromosomes 6p21 and 4q28–q31 in Caucasian and Chinese Hans Population.
Published in:
Journal of Investigative Dermatology, 2004, v. 122, n. 6, p. 1401, doi. 10.1111/j.0022-202X.2004.22607.x
By:
- Sagoo, Gurdeep S.;
- Tazi-Ahnini, Rachid;
- Barker, Jonathan W. N.;
- Elder, James T.;
- Nair, Rajan F.;
- Samuelsson, Lena;
- Traupe, Heiko;
- Trembath, Richard C.;
- Robinson, Darren A.;
- Iles, Mark M.
Publication type:
Article
Genetic Analysis of PSORS1 Distinguishes Guttate Psoriasis and Palmoplantar Pustulosis.
Published in:
Journal of Investigative Dermatology, 2003, v. 120, n. 4, p. 627, doi. 10.1046/j.1523-1747.2003.12094.x
By:
- Asumalahti, Kati;
- Ameen, Mahreen;
- Suomela, Sari;
- Hagforsen, Eva;
- Michaëlsson, Gerd;
- Evans, Julie;
- Munro, Margo;
- Veal, Colin;
- Allen, Michael;
- Leman, Joyce;
- Burden, A. David;
- Kirby, Brian;
- Connolly, Maureen;
- Griffiths, Christopher E.M.;
- Trembath, Richard C.;
- Kere, Juha;
- Saarialho-Kere, Ulpu;
- Barker, Jonathan N.W.N.
Publication type:
Article
Characterization of the Major Susceptibility Region for Psoriasis at Chromosome 6p21.3.
Published in:
Journal of Investigative Dermatology, 1999, v. 113, n. 3, p. 322, doi. 10.1046/j.1523-1747.1999.00710.x
By:
- Balendran, Nalini;
- Clough, R. Lee;
- Arguello, J. Rafael;
- Barber, Ruth;
- Veal, Colin;
- Jones, Andrew B.;
- Rosbotham, Jane L.;
- Little, Anne-Margaret;
- Madrigal, Alejandro;
- Barker, Jonathan N. W. N.;
- Powis, Stephen H.;
- Trembath, Richard C.
Publication type:
Article
Assessment of a pulmonary origin for blood outgrowth endothelial cells by examination of identical twins harboring a BMPR2 mutation.
Published in:
2013
By:
- Ormiston, Mark L;
- Southgate, Laura;
- Treacy, Carmen;
- Pepke-Zaba, Joanna;
- Trembath, Richard C;
- Machado, Rajiv D;
- Morrell, Nicholas W
Publication type:
Letter

Found: 80