Works matching AU Trembath, Richard

Results: 113

Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish.

Published in:

Neurogenetics, 2010, v. 11, n. 4, p. 379, doi. 10.1007/s10048-010-0243-8

By:

Southgate, Laura;
Dafou, Dimitra;
Hoyle, Jacqueline;
Li, Nan;
Kinning, Esther;
Critchley, Peter;
Németh, Andrea;
Talbot, Kevin;
Bindu, Parayil;
Sinha, Sanjib;
Taly, Arun;
Raghavendra, Seetharam;
Müller, Ferenc;
Maher, Eamonn;
Trembath, Richard

Publication type:

Article

A LIE BASED ON A DELUSION: AUSTRALIA'S ROLE IN THE KOREAN WAR GERM WARFARE CONTROVERSY.

Published in:

Social Alternatives, 2004, v. 23, n. 3, p. 6

By:

Trembath, Richard

Publication type:

Article

Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.

Published in:

Human Mutation, 2016, v. 37, n. 11, p. 1157, doi. 10.1002/humu.23060

By:

Harlalka, Gaurav V.;
McEntagart, Meriel E.;
Gupta, Neerja;
Skrzypiec, Anna E.;
Mucha, Mariusz W.;
Chioza, Barry A.;
Simpson, Michael A.;
Sreekantan‐Nair, Ajith;
Pereira, Anthony;
Günther, Sven;
Jahic, Amir;
Modarres, Hamid;
Moore‐Barton, Heather;
Trembath, Richard C.;
Kabra, Madhulika;
Baple, Emma L.;
Thakur, Seema;
Patton, Michael A.;
Beetz, Christian;
Pawlak, Robert

Publication type:

Article

Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

Published in:

Human Mutation, 2015, v. 36, n. 12, p. 1113, doi. 10.1002/humu.22904

By:

Machado, Rajiv D.;
Southgate, Laura;
Eichstaedt, Christina A.;
Aldred, Micheala A.;
Austin, Eric D.;
Best, D. Hunter;
Chung, Wendy K.;
Benjamin, Nicola;
Elliott, C. Gregory;
Eyries, Mélanie;
Fischer, Christine;
Gräf, Stefan;
Hinderhofer, Katrin;
Humbert, Marc;
Keiles, Steven B.;
Loyd, James E.;
Morrell, Nicholas W.;
Newman, John H.;
Soubrier, Florent;
Trembath, Richard C.

Publication type:

Article

DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies.

Published in:

Human Mutation, 2015, v. 36, n. 11, p. 1112, doi. 10.1002/humu.22830

By:

Sukalo, Maja;
Tilsen, Felix;
Kayserili, Hülya;
Müller, Dietmar;
Tüysüz, Beyhan;
Ruddy, Deborah M.;
Wakeling, Emma;
Ørstavik, Karen Helene;
Bramswig, Nuria C.;
Snape, Katie M.;
Trembath, Richard;
Smedt, Maryse;
der Aa, Nathalie;
Skalej, Martin;
Mundlos, Stefan;
Wuyts, Wim;
Southgate, Laura;
Zenker, Martin

Publication type:

Article

DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies.

Published in:

Human Mutation, 2015, v. 36, n. 6, p. 593, doi. 10.1002/humu.22795

By:

Sukalo, Maja;
Tilsen, Felix;
Kayserili, Hülya;
Müller, Dietmar;
Tüysüz, Beyhan;
Ruddy, Deborah M.;
Wakeling, Emma;
Ørstavik, Karen Helene;
Snape, Katie M.;
Trembath, Richard;
Smedt, Maryse;
Aa, Nathalie;
Skalej, Martin;
Mundlos, Stefan;
Wuyts, Wim;
Southgate, Laura;
Zenker, Martin

Publication type:

Article

Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development.

Published in:

Human Mutation, 2011, v. 32, n. 2, p. 231, doi. 10.1002/humu.21413

By:

Denais, Celine;
Dent, Carolyn L.;
Southgate, Laura;
Hoyle, Jacqueline;
Dafou, Dimitra;
Trembath, Richard C.;
Machado, Rajiv D.

Publication type:

Article

BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertension.

Published in:

Human Mutation, 2006, v. 27, n. 2, p. 212, doi. 10.1002/humu.9398

By:

Aldred, Micheala A.;
Vijayakrishnan, Jairam;
James, Victoria;
Soubrier, Florent;
Gomez-Sanchez, Miguel A.;
Martensson, Gunnar;
Galie, Nazzareno;
Manes, Alessandra;
Corris, Paul;
Simonneau, Gerald;
Humbert, Marc;
Morrell, Nicholas W.;
Trembath, Richard C.

Publication type:

Article

BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension.

Published in:

Human Mutation, 2005, v. 26, n. 2, p. 119, doi. 10.1002/humu.20200

By:

Sankelo, Marja;
Flanagan, Julia A;
Machado, Rajiv;
Harrison, Rachel;
Rudarakanchana, Nung;
Morrell, Nicholas;
Dixon, Morag;
Halme, Maija;
Puolijoki, Hannu;
Kere, Juha;
Elomaa, Outi;
Kupari, Markku;
Räisänen-Sokolowski, Anne;
Trembath, Richard C.;
Laitinen, Tarja

Publication type:

Article

Activating and inactivating mutations in the human GNAS1 gene.

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 183, doi. 10.1002/1098-1004(200009)16:3<183::AID-HUMU1>3.0.CO;2-L

By:

Aldred, Micheala A.;
Trembath, Richard C.

Publication type:

Article

Whole Exome Sequence Analysis Provides Novel Insights into the Genetic Framework of Childhood-Onset Pulmonary Arterial Hypertension.

Published in:

Genes, 2020, v. 11, n. 11, p. 1328, doi. 10.3390/genes11111328

By:

Gelinas, Simone M.;
Benson, Clare E.;
Khan, Mohammed A.;
Berger, Rolf M. F.;
Trembath, Richard C.;
Machado, Rajiv D.;
Southgate, Laura

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

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

Frequent Occurrence of an Intron 4 Mutation in Multiple Endocrine Neoplasia Type 1.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 6, p. 2688, doi. 10.1210/jcem.87.6.8607

By:

TURNER, JEREMY J. O.;
LEOTLELA, POLOKO D.;
PANNETT, ANNA A. J.;
FORBES, SIMON A.;
DUNCAN BASSETT, J. H.;
HARDING, BRIAN;
CHRISTIE, PAUL T.;
BOWEN-JONES, DAVID;
ELLARD, SIAN;
HATTERSLEY, ANDREW;
JACKSON, CHARLES E.;
POPE, RICHARD;
QUARRELL, OLIVER W.;
TREMBATH, RICHARD;
THAKKER, RAJESH V.

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

Concurrence of Pendred Syndrome, Autoimmune Thyroiditis, and Simple Goiter in One Family.

Published in:

Journal of Clinical Endocrinology & Metabolism, 1999, v. 84, n. 8, p. 2736, doi. 10.1210/jcem.84.8.5903

By:

VAIDYA, BIJAYESWAR;
COFFEY, REBECCA;
COYLE, BETH;
TREMBATH, RICHARD;
LAZARO, CAMILLE SAN;
REARDON, WILLIAM;
KENDALL-TAYLOR, PAT

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

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

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

Best Kept Secrets: An evaluation of South Australia’s direct marketing campaign.

Published in:

Journal of Vacation Marketing, 2000, v. 6, n. 1, p. 76, doi. 10.1177/135676679900600110

By:

Trembath, Richard

Publication type:

Article

Australian women war reporters: Boer War to Vietnam.

Published in:

2016

By:

Trembath, Richard

Publication type:

Book Review

Lamin A/C Gene.

Published in:

Diabetes, 2000, v. 49, n. 11, p. 1958, doi. 10.2337/diabetes.49.11.1958

By:

Vigouroux, Corinne;
Magre, Jocelyne;
Vantyghem, Marie-Christine;
Bourut, Charlotte;
Lascols, Olivier;
Shackleton, Sue;
Lloyd, David J.;
Guerci, Bruno;
Padova, Giuseppina;
Valensi, Paul;
Grimaldi, Andre;
Piquemal, Regis;
Touraine, Philippe;
Trembath, Richard C.;
Capeau, Jacqueline

Publication type:

Article

Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR)) gene.

Published in:

1994

By:

van den Ouweland, Johannes M. W.;
Lemkes, Herman H. P. J.;
Trembath, Richard C.;
Ross, Richard;
Velho, Gilberto;
Cohen, Daniel;
Froguel, Philippe;
Maassen, J. Antonie;
van den Ouweland, J M;
Lemkes, H H;
Trembath, R C;
Ross, R;
Velho, G;
Cohen, D;
Froguel, P;
Maassen, J A

Publication type:

journal article

Cross-disorder analysis of schizophrenia and 19 immune-mediated diseases identifies shared genetic risk.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 20, p. 3498, doi. 10.1093/hmg/ddz145

By:

Pouget, Jennie G;
Consortium, Schizophrenia Working Group of the Psychiatric Genomics;
Han, Buhm;
Wu, Yang;
Mignot, Emmanuel;
Ollila, Hanna M;
Barker, Jonathan;
Spain, Sarah;
Dand, Nick;
Trembath, Richard;
Martin, Javier;
Mayes, Maureen D;
Bossini-Castillo, Lara;
López-Isac, Elena;
Jin, Ying;
Santorico, Stephanie A;
Spritz, Richard A;
Hakonarson, Hakon;
Polychronakos, Constantin;
Raychaudhuri, Soumya

Publication type:

Article

Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 9, p. 1836, doi. 10.1093/hmg/ddw057

By:

Smith, Joel;
Read, Martin L.;
Hoffman, Jon;
Brown, Rachel;
Bradshaw, Beth;
Campbell, Christopher;
Cole, Trevor;
Navas, Johanna Dieguez;
Eatock, Fiona;
Gundara, Justin S.;
Lian, Eric;
Mcmullan, Dom;
Morgan, Neil V.;
Mulligan, Lois;
Morrison, Patrick J.;
Robledo, Mercedes;
Simpson, Michael A.;
Smith, Vicki E.;
Stewart, Sue;
Trembath, Richard C.

Publication type:

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

Building the Destination Brand: An Empirical Comparison of Two Approaches.

Published in:

Journal of Travel & Tourism Marketing, 2011, v. 28, n. 8, p. 804, doi. 10.1080/10548408.2011.623038

By:

Trembath, Richard;
Romaniuk, Jenni;
Lockshin, Larry

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

Assessment of a Pulmonary Origin for Blood Outgrowth Endothelial Cells by Examination of Identical Twins Harboring a BMPR2 Mutation.

Published in:

American Journal of Respiratory & Critical Care Medicine, 2013, v. 188, n. 2, p. 258, doi. 10.1164/rccm.201301-0078le

By:

ORMISTON, MARK L.;
SOUTHGATE, LAURA;
TREACY, CARMEN;
PEPKE-ZABA, JOANNA;
TREMBATH, RICHARD C.;
MACHADO, RAJIV D.;
MORRELL, NICHOLAS W.

Publication type:

Article

Sequence variants in the genes for the interleukin-23 receptor ( IL23R) and its ligand ( IL12B) confer protection against psoriasis.

Published in:

Human Genetics, 2007, v. 122, n. 2, p. 201, doi. 10.1007/s00439-007-0397-0

By:

Capon, Francesca;
Meglio, Paola;
Szaub, Joanna;
Prescott, Natalie;
Dunster, Christina;
Baumber, Laura;
Timms, Kirsten;
Gutin, Alexander;
Abkevic, Victor;
Burden, A.;
Lanchbury, Jerry;
Barker, Jonathan;
Trembath, Richard;
Nestle, Frank

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

Low prevalence ofMYOCmutations in UK primary open-angle glaucoma patients limits the utility of genetic testing.

Published in:

Human Genetics, 2004, v. 115, n. 5, p. 428, doi. 10.1007/s00439-004-1171-1

By:

Aldred, Micheala;
Baumber, Laura;
Hill, Alison;
Schwalbe, Edward;
Goh, Kai;
Karwatowski, Wojciech;
Trembath, Richard

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

Molecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goitre).

Published in:

Human Molecular Genetics, 1998, v. 7, n. 7, p. 1105, doi. 10.1093/hmg/7.7.1105

By:

Coyle, Beth;
Reardon, William;
Herbrick, Jo‐Anne;
Tsui, Lap‐Chee;
Gausden, Eleanor;
Lee, Jeffrey;
Coffey, Rebecca;
Grueters, Annette;
Grossman, Ashley;
Phelps, Peter D.;
Luxon, Linda;
Kendall‐Taylor, Pat;
Scherer, Stephen W.;
Trembath, Richard C.

Publication type:

Article

Identification of a Major Susceptibility Locus on Chromosome 6p and Evidence for Further Disease Loci Revealed by a Two Stage Genome-Wide Search in Psoriasis.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 5, p. 813, doi. 10.1093/hmg/6.5.813

By:

Trembath, Richard C.;
Lee Clough, R.;
Rosbotham, Jane L.;
Jones, Andrew B.;
Camp, Richard D. R.;
Frodsham, Angela;
Browne, Julie;
Barber, Ruth;
Terwilliger, Joseph;
Mark Lathrop, G.;
Barker, Jonathan N. W. N.

Publication type:

Article

Familial Infiltrative Fibromatosis (Desmoid Tumours) (MIM135290) Caused by a Recurrent 3′ APC Gene Mutation.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 12, p. 1921, doi. 10.1093/hmg/5.12.1921

By:

Scott, Rodney J.;
Froggatt, Nicola J.;
Trembath, Richard C.;
Evans, D. Gareth R.;
Hodgson, Shirley V.;
Maher, Eamonn R.

Publication type:

Article

The mutational spectrum in Waardenburg syndrome.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 11, p. 2131

By:

Tassabehji, Mayada;
Newton, Valerie E.;
Liu, Xue-Zhong;
Brady, Angela;
Donnai, Dian;
Krajewska-Walasek, Malgorzata;
Murday, Victoria;
Norman, Andrew;
Obersztyn, Ewa;
Reardon, William;
Rice, John C.;
Trembath, Richard;
Wieacker, Peter;
Whiteford, Margo;
Winter, Robin;
Read, Andrew P.

Publication type:

Article

A deletion hot-spot in exon 7 of the G8α gene (GNAS1) in patients with Aibright hereditary osteodystrophy.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 10, p. 2001

By:

Yu, Shuhua;
Yu, Dawen;
Hainline, Bryan E.;
Brener, Jacob L.;
Wilson, Kathryn;
Wilson, Louise C.;
Oude-Luttikhuls, Monique;
Trembath, Richard C.;
Weinstein, Lee S.

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