Works matching AU Cole, Trevor

Results: 45

The Impact of Cell-Free DNA Analysis on the Management of Retinoblastoma.

Published in:

Cancers, 2021, v. 13, n. 7, p. 1570, doi. 10.3390/cancers13071570

By:

Gerrish, Amy;
Jenkinson, Helen;
Cole, Trevor;
Dünker, Nicole;
Bornfeld, Norbert;
Munier, Francis L.

Publication type:

Article

KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.

Published in:

EMBO Molecular Medicine, 2017, v. 9, n. 10, p. 1379, doi. 10.15252/emmm.201607376

By:

Xu, Cheng;
Messina, Andrea;
Somm, Emmanuel;
Miraoui, Hichem;
Kinnunen, Tarja;
Acierno, James;
Niederländer, Nicolas J;
Bouilly, Justine;
Dwyer, Andrew A;
Sidis, Yisrael;
Cassatella, Daniele;
Sykiotis, Gerasimos P;
Quinton, Richard;
De Geyter, Christian;
Dirlewanger, Mirjam;
Schwitzgebel, Valérie;
Cole, Trevor R;
Toogood, Andrew A;
Kirk, Jeremy MW;
Plummer, Lacey

Publication type:

Article

Dissociation mediates the association between intimate partner violence and posttraumatic stress among treatment-seeking incarcerated women.

Published in:

Journal of Trauma & Dissociation, 2016, v. 17, n. 4, p. 480, doi. 10.1080/15299732.2016.1141148

By:

DeCou, Christopher R.;
Lynch, Shannon M.;
Cole, Trevor T.;
Kaplan, Stephanie P.

Publication type:

Article

Phenotypic Spectrum in Osteogenesis Imperfecta Due to Mutations in TMEM38B: Unraveling a Complex Cellular Defect.

Published in:

2017

By:

Webb, Emma A;
Balasubramanian, Meena;
Fratzl-Zelman, Nadja;
Cabral, Wayne A;
Titheradge, Hannah;
Alsaedi, Atif;
Saraff, Vrinda;
Vogt, Julie;
Cole, Trevor;
Stewart, Susan;
Crabtree, Nicola J;
Sargent, Brandi M;
Gamsjaeger, Sonja;
Paschalis, Eleftherios P;
Roschger, Paul;
Klaushofer, Klaus;
Shaw, Nick J;
Marini, Joan C;
Högler, Wolfgang

Publication type:

journal article

Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases.

Published in:

Clinical Genetics, 1994, v. 46, n. 2, p. 168, doi. 10.1111/j.1399-0004.1994.tb04219.x

By:

Elliott, Margaret;
Bayly, Rosemary;
Cole, Trevor;
Temple, I. Karen;
Maher, Eamonn R.

Publication type:

Article

Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth.

Published in:

Nature Genetics, 2007, v. 39, n. 8, p. 963, doi. 10.1038/ng2083

By:

Douglas, Jenny;
Cilliers, Deirdre;
Coleman, Kim;
Tatton-Brown, Katrina;
Barker, Karen;
Bernhard, Brigitte;
Burn, John;
Huson, Susan;
Josifova, Dragana;
Lacombe, Didier;
Malik, Mohsin;
Mansour, Sahar;
Reid, Evan;
Cormier-Daire, Valerie;
Cole, Trevor;
Rahman, Nazneen

Publication type:

Article

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.

Published in:

Nature Genetics, 2005, v. 37, n. 3, p. 221, doi. 10.1038/ng1517

By:

Aligianis, Irene A;
Johnson, Colin A;
Gissen, Paul;
Chen, Dongrong;
Hampshire, Daniel;
Hoffmann, Katrin;
Maina, Esther N;
Morgan, Neil V;
Tee, Louise;
Morton, Jenny;
Ainsworth, John R;
Horn, Denise;
Rosser, Elisabeth;
Cole, Trevor R. P.;
Stolte-Dijkstra, Irene;
Fieggen, Karen;
Clayton-Smith, Jill;
Mégarbané, André;
Shield, Julian P;
Newbury-Ecob, Ruth

Publication type:

Article

Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE.

Published in:

2013

By:

Mavaddat, Nasim;
Peock, Susan;
Frost, Debra;
Ellis, Steve;
Platte, Radka;
Fineberg, Elena;
Evans, D Gareth;
Izatt, Louise;
Eeles, Rosalind A;
Adlard, Julian;
Davidson, Rosemarie;
Eccles, Diana;
Cole, Trevor;
Cook, Jackie;
Brewer, Carole;
Tischkowitz, Marc;
Douglas, Fiona;
Hodgson, Shirley;
Walker, Lisa;
Porteous, Mary E

Publication type:

journal article

Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE.

Published in:

JNCI: Journal of the National Cancer Institute, 2013, v. 105, n. 11, p. 812

By:

Mavaddat, Nasim;
Peock, Susan;
Frost, Debra;
Ellis, Steve;
Platte, Radka;
Fineberg, Elena;
Evans, D. Gareth;
Izatt, Louise;
Eeles, Rosalind A.;
Adlard, Julian;
Davidson, Rosemarie;
Eccles, Diana;
Cole, Trevor;
Cook, Jackie;
Brewer, Carole;
Tischkowitz, Marc;
Douglas, Fiona;
Hodgson, Shirley;
Walker, Lisa;
Porteous, Mary E.

Publication type:

Article

PMS2 Mutations in Childhood Cancer.

Published in:

JNCI: Journal of the National Cancer Institute, 2006, v. 98, n. 5, p. 358, doi. 10.1093/jnci/djj073

By:

De Vos, Michel;
Hayward, Bruce E.;
Chariton, Ruth;
Taylor, Graham R.;
Glaser, Adam W.;
Picton, Susan;
Cole, Trevor R.;
Maher, Eamonn R.;
McKeown, Carole M. E.;
Mann, Jill R.;
Yates, John R.;
Baralle, Diana;
Rankin, Julia;
Bonthron, David T.;
Sheridan, Eamonn

Publication type:

Article

The Hydrochemical Signature of Incongruent Weathering in Iceland.

Published in:

Journal of Geophysical Research. Earth Surface, 2022, v. 127, n. 6, p. 1, doi. 10.1029/2021JF006450

By:

Cole, Trevor L.;
Torres, Mark A.;
Kemeny, Preston C.

Publication type:

Article

Growth reference charts for children with hypochondroplasia.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 243, doi. 10.1002/ajmg.a.63431

By:

Cheung, Moira S.;
Cole, Tim J.;
Arundel, Paul;
Bridges, Nicola;
Burren, Christine P.;
Cole, Trevor;
Davies, Justin Huw;
Hagenäs, Lars;
Högler, Wolfgang;
Hulse, Anthony;
Mason, Avril;
McDonnell, Ciara;
Merker, Andrea;
Mohnike, Klaus;
Sabir, Ataf;
Skae, Mars;
Rothenbuhler, Anya;
Warner, Justin;
Irving, Melita

Publication type:

Article

Hypothalamic Reproductive Endocrine Pulse Generator Activity Independent of Neurokinin B and Dynorphin Signaling.

Published in:

2019

By:

Lippincott, Margaret F;
León, Silvia;
Chan, Yee-Ming;
Fergani, Chrysanthi;
Talbi, Rajae;
Farooqi, I Sadaf;
Jones, Christopher M;
Arlt, Wiebke;
Stewart, Susan E;
Cole, Trevor R;
Terasawa, Ei;
Hall, Janet E;
Shaw, Natalie D;
Navarro, Victor M;
Seminara, Stephanie Beth

Publication type:

journal article

EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome.

Published in:

Human Mutation, 2019, v. 40, n. 2, p. 142, doi. 10.1002/humu.23688

By:

Pathak, Sagar J.;
Mueller, James L.;
Okamoto, Kevin;
Das, Barun;
Hertecant, Jozef;
Greenhalgh, Lynn;
Cole, Trevor;
Pinsk, Vered;
Yerushalmi, Baruch;
Gurkan, Odul E.;
Yourshaw, Michael;
Hernandez, Erick;
Oesterreicher, Sandy;
Naik, Sandhia;
Sanderson, Ian R.;
Axelsson, Irene;
Agardh, Daniel;
Boland, C. Richard;
Martin, Martin G.;
Putnam, Christopher D.

Publication type:

Article

Further delineation of Malan syndrome.

Published in:

Human Mutation, 2018, v. 39, n. 9, p. 1226, doi. 10.1002/humu.23563

By:

Priolo, Manuela;
Schanze, Denny;
Tatton‐Brown, Katrin;
Mulder, Paul A.;
Tenorio, Jair;
Kooblall, Kreepa;
Acero, Inés Hernández;
Alkuraya, Fowzan S.;
Arias, Pedro;
Bernardini, Laura;
Bijlsma, Emilia K.;
Cole, Trevor;
Coubes, Christine;
Dapia, Irene;
Davies, Sally;
Di Donato, Nataliya;
Elcioglu, Nursel H.;
Fahrner, Jill A.;
Foster, Alison;
González, Noelia García

Publication type:

Article

Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity.

Published in:

Human Mutation, 2012, v. 33, n. 4, p. 665, doi. 10.1002/humu.22012

By:

Daniel, Philip B.;
Morgan, Tim;
Alanay, Yasemin;
Bijlsma, Emilia;
Cho, Tae-Joon;
Cole, Trevor;
Collins, Felicity;
David, Albert;
Devriendt, Koen;
Faivre, Laurence;
Ikegawa, Shiro;
Jacquemont, Sebastien;
Jesic, Milos;
Krakow, Deborah;
Liebrecht, Daniela;
Maitz, Silvia;
Marlin, Sandrine;
Morin, Gilles;
Nishikubo, Toshiya;
Nishimura, Gen

Publication type:

Article

Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.

Published in:

Human Mutation, 2010, v. 31, n. 1, p. 41, doi. 10.1002/humu.21136

By:

Ricketts, Christopher J.;
Forman, Julia R.;
Rattenberry, Eleanor;
Bradshaw, Nicola;
Lalloo, Fiona;
Izatt, Louise;
Cole, Trevor R.;
Armstrong, Ruth;
Kumar, V.K. Ajith;
Morrison, Patrick J.;
Atkinson, A. Brew;
Douglas, Fiona;
Ball, Steve G.;
Cook, Jackie;
Srirangalingam, Umasuthan;
Killick, Pip;
Kirby, Gail;
Aylwin, Simon;
Woodward, Emma R.;
Evans, D. Gareth R.

Publication type:

Article

Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases.

Published in:

Human Mutation, 2006, v. 27, n. 11, p. 1160, doi. 10.1002/humu.9467

By:

Lonie, Lorne;
Porter, Daniel E.;
Fraser, Maria;
Cole, Trevor;
Wise, Carol;
Yates, Laura;
Wakeling, Emma;
Blair, Ed;
Morava, Eva;
Monaco, Anthony P.;
Ragoussis, Jiannis

Publication type:

Article

Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita.

Published in:

Human Mutation, 2001, v. 18, n. 6, p. 547, doi. 10.1002/humu.1236

By:

Zhang, Yao-Hua;
Huang, Bing-Ling;
Anyane-Yeboa, Kwame;
Carvalho, Julienne A.R.;
Clemons, Robert D.;
Cole, Trevor;
De Figueiredo, Bonald C.;
Lubinsky, Mark;
Metzger, Daniel L.;
Quadrelli, Roberto;
Repaske, David R.;
Reyno, Soraya;
Seaver, Laurie H.;
Vaglio, Alicia;
Van Vliet, Guy;
McCabe, Linda L.;
McCabe, Edward R.B.;
Phelan, James K.

Publication type:

Article

Long‐Term Storage and Age‐Biased Export of Fluvial Organic Carbon: Field Evidence From West Iceland.

Published in:

Geochemistry, Geophysics, Geosystems: G3, 2020, v. 21, n. 4, p. 1, doi. 10.1029/2019GC008632

By:

Torres, Mark A.;
Kemeny, Preston C.;
Lamb, Michael P.;
Cole, Trevor L.;
Fischer, Woodward W.

Publication type:

Article

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing.

Published in:

Genome Medicine, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13073-018-0606-6

By:

Sanchis-Juan, Alba;
Stephens, Jonathan;
Gleadall, Nicholas;
Mégy, Karyn;
Penkett, Christopher;
Shamardina, Olga;
Stirrups, Kathleen;
Dewhurst, Eleanor;
Dolling, Helen;
Erwood, Marie;
Ouwehand, Willem H.;
Carss, Keren J.;
Stefanucci, Luca;
Cole, Trevor;
Raymond, F. Lucy;
French, Courtney E.;
Delon, Isabelle;
Austin, Topun;
Branco, Ricardo Garcia;
Grozeva, Detelina

Publication type:

Article

The evolving therapeutic landscape of genetic skeletal disorders.

Published in:

2019

By:

Sabir, Ataf Hussain;
Cole, Trevor

Publication type:

journal article

Non-invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies by relative haplotype dosage.

Published in:

2016

By:

Parks, Michael;
Court, Samantha;
Cleary, Siobhan;
Clokie, Samuel;
Hewitt, Julie;
Williams, Denise;
Cole, Trevor;
MacDonald, Fiona;
Griffiths, Mike;
Allen, Stephanie

Publication type:

journal article

Initial Validation of IBD KNOW-IT: Measuring Patient and Caregiver Knowledge of a Child's Disease and Treatment Regimen.

Published in:

Journal of Clinical Psychology in Medical Settings, 2020, v. 27, n. 3, p. 480, doi. 10.1007/s10880-019-09636-0

By:

Maddux, Michele;
Gordy, Allison;
Schurman, Corey;
Cole, Trevor;
Staggs, Vincent

Publication type:

Article

Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community.

Published in:

Clinical Endocrinology, 2013, v. 79, n. 2, p. 275, doi. 10.1111/cen.12127

By:

Cangul, Hakan;
Aycan, Zehra;
Olivera‐Nappa, Alvaro;
Saglam, Halil;
Schoenmakers, Nadia A.;
Boelaert, Kristien;
Cetinkaya, Semra;
Tarim, Omer;
Bober, Ece;
Darendeliler, Feyza;
Bas, Veysel;
Demir, Korcan;
Aydin, Banu K.;
Kendall, Michaela;
Cole, Trevor;
Högler, Wolfgang;
Chatterjee, V. Krishna K.;
Barrett, Timothy G.;
Maher, Eamonn R.

Publication type:

Article

Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma.

Published in:

Clinical Endocrinology, 2013, v. 78, n. 6, p. 898, doi. 10.1111/cen.12074

By:

Jafri, Mariam;
Whitworth, James;
Rattenberry, Eleanor;
Vialard, Lindsey;
Kilby, Gail;
Kumar, Ajith V.;
Izatt, Louise;
Lalloo, Fiona;
Brennan, Paul;
Cook, Jackie;
Morrison, Patrick J.;
Canham, Natalie;
Armstrong, Ruth;
Brewer, Carole;
Tomkins, Susan;
Donaldson, Alan;
Barwell, Julian;
Cole, Trevor R.;
Atkinson, A. Brew;
Aylwin, Simon

Publication type:

Article

Null variants and deletions in BRWD3 cause an X‐linked syndrome of mild–moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 638, doi. 10.1002/ajmg.c.31750

By:

Ostrowski, Philip J.;
Zachariou, Anna;
Loveday, Chey;
Baralle, Diana;
Blair, Edward;
Douzgou, Sofia;
Field, Michael;
Foster, Alison;
Kyle, Claire;
Lachlan, Katherine;
Mansour, Sahar;
Naik, Swati;
Rea, Gillian;
Smithson, Sarah;
Sznajer, Yves;
Thompson, Elizabeth;
Cole, Trevor;
Tatton‐Brown, Katrina

Publication type:

Article

Females with de novo aberrations in PHF6: Clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2014, v. 166C, n. 3, p. 290, doi. 10.1002/ajmg.c.31408

By:

Zweier, Christiane;
Rittinger, Olaf;
Bader, Ingrid;
Berland, Siren;
Cole, Trevor;
Degenhardt, Franziska;
Di Donato, Nataliya;
Graul‐Neumann, Luitgard;
Hoyer, Juliane;
Lynch, Sally Ann;
Vlasak, Ingrid;
Wieczorek, Dagmar

Publication type:

Article

Coping Self-Efficacy Moderates the Association Between Severity of Partner Violence and PTSD Symptoms Among Incarcerated Women.

Published in:

2015

By:

DeCou, Christopher R.;
Lynch, Shannon M.;
Cole, Trevor T.;
Kaplan, Stephanie P.

Publication type:

journal article

Czech dysplasia metatarsal type: another type II collagen disorder.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1269, doi. 10.1038/sj.ejhg.5201913

By:

Hoornaert, Kristien P.;
Marik, Ivo;
Kozlowski, Kazimierz;
Cole, Trevor;
Le Merrer, Martine;
Leroy, Jules G.;
Coucke, Paul J.;
Sillence, David;
Mortier, Geert R.

Publication type:

Article

Evaluation of NSD2 and NSD3 in overgrowth syndromes.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 2, p. 150, doi. 10.1038/sj.ejhg.5201298

By:

Douglas, Jenny;
Coleman, Kim;
Tatton-Brown, Katrina;
Hughes, Helen E;
Temple, I Karen;
Cole, Trevor R. P;
Rahman, Nazneen

Publication type:

Article

Non-Invasive Prenatal Diagnosis of Retinoblastoma Inheritance by Combined Targeted Sequencing Strategies.

Published in:

Journal of Clinical Medicine, 2020, v. 9, n. 11, p. 3517, doi. 10.3390/jcm9113517

By:

Gerrish, Amy;
Bowns, Benjamin;
Mashayamombe-Wolfgarten, Chipo;
Young, Elizabeth;
Court, Samantha;
Bott, Joshua;
McCalla, Maureen;
Ramsden, Simon;
Parks, Michael;
Goudie, David;
Carless, Sue;
Clokie, Samuel;
Cole, Trevor;
Allen, Stephanie

Publication type:

Article

Physical and Sexual Victimization Predicts Suicidality among Women in Prison: Understanding Ethnic and Trauma-Specific Domains of Risk.

Published in:

Current Psychology, 2017, v. 36, n. 4, p. 774, doi. 10.1007/s12144-016-9465-8

By:

DeCou, Christopher;
Lynch, Shannon;
Cole, Trevor

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

Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations.

Published in:

2002

By:

Bingham, Coralie;
Ellard, Sian;
Cole, Trevor R.P;
Jones, Katrin E;
Allen, Lisa I.S;
Goodship, Judith A;
Goodship, Timothy H.J;
Bakalinova-Pugh, Daniela;
Russell, Gavin I;
Woolf, Adrian S;
Nicholls, Anthony J;
Hattersley, Andrew T

Publication type:

journal article

Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies.

Published in:

2009

By:

Lim, Derek;
Bowdin, Sarah C;
Tee, Louise;
Kirby, Gail A;
Blair, Edward;
Fryer, Alan;
Lam, Wayne;
Oley, Christine;
Cole, Trevor;
Brueton, Louise A;
Reik, Wolf;
Macdonald, Fiona;
Maher, Eamonn R

Publication type:

journal article

Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies.

Published in:

Human Reproduction, 2009, v. 24, n. 3, p. 741

By:

Derek Lim;
Sarah C. Bowdin;
Louise Tee;
Gail A. Kirby;
Edward Blair;
Alan Fryer;
Wayne Lam;
Christine Oley;
Trevor Cole;
Louise A. Brueton;
Wolf Reik;
Fiona Macdonald;
Eamonn R. Maher

Publication type:

Article

Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 4, p. 607, doi. 10.1093/hmg/8.4.607

By:

Richards, Frances M.;
McKee, Shane A.;
Rajpar, M. Helen;
Cole, Trevor R. P.;
Evans, D. Gareth R.;
Jankowski, Janusz A.;
McKeown, Carole;
Sanders, D. Scott A.;
Maher, Eamonn R.

Publication type:

Article

EED and EZH2 constitutive variants: A study to expand the Cohen‐Gibson syndrome phenotype and contrast it with Weaver syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 588, doi. 10.1002/ajmg.a.61066

By:

Griffiths, Sara;
Loveday, Chey;
Zachariou, Anna;
Behan, Lucy‐Ann;
Chandler, Kate;
Cole, Trevor;
D'Arrigo, Stefano;
Dieckmann, Andrea;
Foster, Alison;
Gibney, James;
Hunter, Matthew;
Milani, Donatella;
Pantaleoni, Chiara;
Roche, Edna;
Sherlock, Mark;
Springer, Amanda;
White, Susan M.;
Tatton‐Brown, Katrina

Publication type:

Article

The Behavioral Characteristics of Sotos Syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 2945, doi. 10.1002/ajmg.a.37373

By:

Sheth, Krupa;
Moss, Joanna;
Hyland, Sarah;
Stinton, Chris;
Cole, Trevor;
Oliver, Chris

Publication type:

Article

Long-term retinoblastoma follow-up with or without general anaesthesia.

Published in:

Pediatric Blood & Cancer, 2014, v. 61, n. 2, p. 260, doi. 10.1002/pbc.24755

By:

Batra, Ruchika;
Abbott, Joseph;
Jenkinson, Helen;
Ainsworth, John R.;
Cole, Trevor;
Parulekar, Manoj V.;
Kearns, Pamela

Publication type:

Article

Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility.

Published in:

Nature Genetics, 2012, v. 44, n. 3, p. 277, doi. 10.1038/ng.1071

By:

Astuti, Dewi;
Morris, Mark R;
Cooper, Wendy N;
Staals, Raymond H J;
Wake, Naomi C;
Fews, Graham A;
Gill, Harmeet;
Gentle, Dean;
Shuib, Salwati;
Ricketts, Christopher J;
Cole, Trevor;
van Essen, Anthonie J;
van Lingen, Richard A;
Neri, Giovanni;
Opitz, John M;
Rump, Patrick;
Stolte-Dijkstra, Irene;
Müller, Ferenc;
Pruijn, Ger J M;
Latif, Farida

Publication type:

Article

A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.

Published in:

2013

By:

Rattenberry, Eleanor;
Vialard, Lindsey;
Yeung, Anna;
Bair, Hayley;
McKay, Kirsten;
Jafri, Mariam;
Canham, Natalie;
Cole, Trevor R;
Denes, Judit;
Hodgson, Shirley V;
Irving, Richard;
Izatt, Louise;
Korbonits, Márta;
Kumar, Ajith V;
Lalloo, Fiona;
Morrison, Patrick J;
Woodward, Emma R;
Macdonald, Fiona;
Wallis, Yvonne;
Maher, Eamonn R

Publication type:

journal article

Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.

Published in:

2010

By:

Parajes, Silvia;
Loidi, Lourdes;
Reisch, Nicole;
Dhir, Vivek;
Rose, Ian T;
Hampel, Rainer;
Quinkler, Marcus;
Conway, Gerard S;
Castro-Feijóo, Lidia;
Araujo-Vilar, David;
Pombo, Manuel;
Dominguez, Fernando;
Williams, Emma L;
Cole, Trevor R;
Kirk, Jeremy M;
Kaminsky, Elke;
Rumsby, Gill;
Arlt, Wiebke;
Krone, Nils

Publication type:

journal article

Identification of New Variants of Human BMP15 Gene in a Large Cohort of Women with Premature Ovarian Failure.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 5, p. 1976, doi. 10.1210/jc.2005-2650

By:

Di Pasquale, Elisa;
Rossetti, Raffaella;
Marozzi, Anna;
Bodega, Beatrice;
Borgato, Stefano;
Cavallo, Luciano;
Einaudi, Silvia;
Radetti, Giorgio;
Russo, Gianni;
Sacco, Michele;
Wasniewska, Malgorzata;
Cole, Trevor;
Beck-Peccoz, Paolo;
Nelson, Lawrence M.;
Persani, Luca

Publication type:

Article