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Items: 1 to 50 of 77

1.

Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis.

Rhodes CJ, Batai K, Bleda M, Haimel M, Southgate L, Germain M, Pauciulo MW, Hadinnapola C, Aman J, Girerd B, Arora A, Knight J, Hanscombe KB, Karnes JH, Kaakinen M, Gall H, Ulrich A, Harbaum L, Cebola I, Ferrer J, Lutz K, Swietlik EM, Ahmad F, Amouyel P, Archer SL, Argula R, Austin ED, Badesch D, Bakshi S, Barnett C, Benza R, Bhatt N, Bogaard HJ, Burger CD, Chakinala M, Church C, Coghlan JG, Condliffe R, Corris PA, Danesino C, Debette S, Elliott CG, Elwing J, Eyries M, Fortin T, Franke A, Frantz RP, Frost A, Garcia JGN, Ghio S, Ghofrani HA, Gibbs JSR, Harley J, He H, Hill NS, Hirsch R, Houweling AC, Howard LS, Ivy D, Kiely DG, Klinger J, Kovacs G, Lahm T, Laudes M, Machado RD, MacKenzie Ross RV, Marsolo K, Martin LJ, Moledina S, Montani D, Nathan SD, Newnham M, Olschewski A, Olschewski H, Oudiz RJ, Ouwehand WH, Peacock AJ, Pepke-Zaba J, Rehman Z, Robbins I, Roden DM, Rosenzweig EB, Saydain G, Scelsi L, Schilz R, Seeger W, Shaffer CM, Simms RW, Simon M, Sitbon O, Suntharalingam J, Tang H, Tchourbanov AY, Thenappan T, Torres F, Toshner MR, Treacy CM, Vonk Noordegraaf A, Waisfisz Q, Walsworth AK, Walter RE, Wharton J, White RJ, Wilt J, Wort SJ, Yung D, Lawrie A, Humbert M, Soubrier F, Trégouët DA, Prokopenko I, Kittles R, Gräf S, Nichols WC, Trembath RC, Desai AA, Morrell NW, Wilkins MR; UK NIHR BioResource Rare Diseases Consortium; UK PAH Cohort Study Consortium; US PAH Biobank Consortium.

Lancet Respir Med. 2019 Mar;7(3):227-238. doi: 10.1016/S2213-2600(18)30409-0. Epub 2018 Dec 5.

2.

Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.

Meester JAN, Sukalo M, Schröder KC, Schanze D, Baynam G, Borck G, Bramswig NC, Duman D, Gilbert-Dussardier B, Holder-Espinasse M, Itin P, Johnson DS, Joss S, Koillinen H, McKenzie F, Morton J, Nelle H, Reardon W, Roll C, Salih MA, Savarirayan R, Scurr I, Splitt M, Thompson E, Titheradge H, Travers CP, Van Maldergem L, Whiteford M, Wieczorek D, Vandeweyer G, Trembath R, Van Laer L, Loeys BL, Zenker M, Southgate L, Wuyts W.

Hum Mutat. 2018 Sep;39(9):1246-1261. doi: 10.1002/humu.23567. Epub 2018 Jul 4.

3.

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.

Gräf S, Haimel M, Bleda M, Hadinnapola C, Southgate L, Li W, Hodgson J, Liu B, Salmon RM, Southwood M, Machado RD, Martin JM, Treacy CM, Yates K, Daugherty LC, Shamardina O, Whitehorn D, Holden S, Aldred M, Bogaard HJ, Church C, Coghlan G, Condliffe R, Corris PA, Danesino C, Eyries M, Gall H, Ghio S, Ghofrani HA, Gibbs JSR, Girerd B, Houweling AC, Howard L, Humbert M, Kiely DG, Kovacs G, MacKenzie Ross RV, Moledina S, Montani D, Newnham M, Olschewski A, Olschewski H, Peacock AJ, Pepke-Zaba J, Prokopenko I, Rhodes CJ, Scelsi L, Seeger W, Soubrier F, Stein DF, Suntharalingam J, Swietlik EM, Toshner MR, van Heel DA, Vonk Noordegraaf A, Waisfisz Q, Wharton J, Wort SJ, Ouwehand WH, Soranzo N, Lawrie A, Upton PD, Wilkins MR, Trembath RC, Morrell NW.

Nat Commun. 2018 Apr 12;9(1):1416. doi: 10.1038/s41467-018-03672-4.

4.

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension.

Hadinnapola C, Bleda M, Haimel M, Screaton N, Swift A, Dorfmüller P, Preston SD, Southwood M, Hernandez-Sanchez J, Martin J, Treacy C, Yates K, Bogaard H, Church C, Coghlan G, Condliffe R, Corris PA, Gibbs S, Girerd B, Holden S, Humbert M, Kiely DG, Lawrie A, Machado R, MacKenzie Ross R, Moledina S, Montani D, Newnham M, Peacock A, Pepke-Zaba J, Rayner-Matthews P, Shamardina O, Soubrier F, Southgate L, Suntharalingam J, Toshner M, Trembath R, Vonk Noordegraaf A, Wilkins MR, Wort SJ, Wharton J; NIHR BioResource–Rare Diseases Consortium; UK National Cohort Study of Idiopathic and Heritable PAH, Gräf S, Morrell NW.

Circulation. 2017 Nov 21;136(21):2022-2033. doi: 10.1161/CIRCULATIONAHA.117.028351. Epub 2017 Sep 28.

5.

Doctors Without Borders.

Wass V, Southgate L.

Acad Med. 2017 Apr;92(4):441-443. doi: 10.1097/ACM.0000000000001618.

PMID:
28225463
6.

Letter regarding "Distal Limb Defects and Aplasia Cutis: Adams-Oliver Syndrome".

Southgate L.

J Hand Surg Am. 2016 Sep;41(9):e327. doi: 10.1016/j.jhsa.2016.06.001. Epub 2016 Jul 9. No abstract available.

PMID:
27402369
7.

Health and population effects of rare gene knockouts in adult humans with related parents.

Narasimhan VM, Hunt KA, Mason D, Baker CL, Karczewski KJ, Barnes MR, Barnett AH, Bates C, Bellary S, Bockett NA, Giorda K, Griffiths CJ, Hemingway H, Jia Z, Kelly MA, Khawaja HA, Lek M, McCarthy S, McEachan R, O'Donnell-Luria A, Paigen K, Parisinos CA, Sheridan E, Southgate L, Tee L, Thomas M, Xue Y, Schnall-Levin M, Petkov PM, Tyler-Smith C, Maher ER, Trembath RC, MacArthur DG, Wright J, Durbin R, van Heel DA.

Science. 2016 Apr 22;352(6284):474-7. doi: 10.1126/science.aac8624. Epub 2016 Mar 3.

8.

Revisiting 'Performance rating scale for peer and self assessment'.

Passi V, Southgate L.

Med Educ. 2016 Mar;50(3):267-70. doi: 10.1111/medu.12798. No abstract available.

PMID:
26896007
9.

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

Sukalo M, Tilsen F, Kayserili H, Müller D, Tüysüz B, Ruddy DM, Wakeling E, Ørstavik KH, Bramswig NC, Snape KM, Trembath R, De Smedt M, van der Aa N, Skalej M, Mundlos S, Wuyts W, Southgate L, Zenker M.

Hum Mutat. 2015 Nov;36(11):1112. doi: 10.1002/humu.22830. Epub 2015 Aug 7.

PMID:
26457590
10.

Network-Informed Gene Ranking Tackles Genetic Heterogeneity in Exome-Sequencing Studies of Monogenic Disease.

Dand N, Schulz R, Weale ME, Southgate L, Oakey RJ, Simpson MA, Schlitt T.

Hum Mutat. 2015 Dec;36(12):1135-44. doi: 10.1002/humu.22906. Epub 2015 Oct 7.

11.

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

Machado RD, Southgate L, Eichstaedt CA, Aldred MA, Austin ED, Best DH, Chung WK, Benjamin N, Elliott CG, Eyries M, Fischer C, Gräf S, Hinderhofer K, Humbert M, Keiles SB, Loyd JE, Morrell NW, Newman JH, Soubrier F, Trembath RC, Viales RR, Grünig E.

Hum Mutat. 2015 Dec;36(12):1113-27. doi: 10.1002/humu.22904. Epub 2015 Oct 12. Review.

12.

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.

Meester JA, Southgate L, Stittrich AB, Venselaar H, Beekmans SJ, den Hollander N, Bijlsma EK, Helderman-van den Enden A, Verheij JB, Glusman G, Roach JC, Lehman A, Patel MS, de Vries BB, Ruivenkamp C, Itin P, Prescott K, Clarke S, Trembath R, Zenker M, Sukalo M, Van Laer L, Loeys B, Wuyts W.

Am J Hum Genet. 2015 Sep 3;97(3):475-82. doi: 10.1016/j.ajhg.2015.07.015. Epub 2015 Aug 20.

13.

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.

Southgate L, Sukalo M, Karountzos ASV, Taylor EJ, Collinson CS, Ruddy D, Snape KM, Dallapiccola B, Tolmie JL, Joss S, Brancati F, Digilio MC, Graul-Neumann LM, Salviati L, Coerdt W, Jacquemin E, Wuyts W, Zenker M, Machado RD, Trembath RC.

Circ Cardiovasc Genet. 2015 Aug;8(4):572-581. doi: 10.1161/CIRCGENETICS.115.001086. Epub 2015 May 11.

14.

DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.

Sukalo M, Tilsen F, Kayserili H, Müller D, Tüysüz B, Ruddy DM, Wakeling E, Ørstavik KH, Snape KM, Trembath R, De Smedt M, van der Aa N, Skalej M, Mundlos S, Wuyts W, Southgate L, Zenker M.

Hum Mutat. 2015 Jun;36(6):593-8. doi: 10.1002/humu.22795. Epub 2015 Apr 21. Erratum in: Hum Mutat. 2015 Nov;36(11):1112.

PMID:
25824905
15.

The threat of the dyscompetent resident: A plea to make the implicit more explicit!

van Mook WN, van Luijk SJ, Zwietering PJ, Southgate L, Schuwirth LW, Scherpbier AJ, van der Vleuten CP.

Adv Health Sci Educ Theory Pract. 2015 May;20(2):559-74. doi: 10.1007/s10459-014-9526-4. Epub 2014 Jun 14.

PMID:
24927810
16.

A conversation about the role of medical regulators.

Southgate L, van der Vleuten CP.

Med Educ. 2014 Feb;48(2):215-8. doi: 10.1111/medu.12309. No abstract available.

PMID:
24528403
17.

Assessment of a pulmonary origin for blood outgrowth endothelial cells by examination of identical twins harboring a BMPR2 mutation.

Ormiston ML, Southgate L, Treacy C, Pepke-Zaba J, Trembath RC, Machado RD, Morrell NW.

Am J Respir Crit Care Med. 2013 Jul 15;188(2):258-60. doi: 10.1164/rccm.201301-0078LE. No abstract available.

PMID:
23855704
18.

Expert validation of fit-for-purpose guidelines for designing programmes of assessment.

Dijkstra J, Galbraith R, Hodges BD, McAvoy PA, McCrorie P, Southgate LJ, Van der Vleuten CP, Wass V, Schuwirth LW.

BMC Med Educ. 2012 Apr 17;12:20. doi: 10.1186/1472-6920-12-20.

19.

Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension.

Nasim MT, Ogo T, Ahmed M, Randall R, Chowdhury HM, Snape KM, Bradshaw TY, Southgate L, Lee GJ, Jackson I, Lord GM, Gibbs JS, Wilkins MR, Ohta-Ogo K, Nakamura K, Girerd B, Coulet F, Soubrier F, Humbert M, Morrell NW, Trembath RC, Machado RD.

Hum Mutat. 2011 Dec;32(12):1385-9. doi: 10.1002/humu.21605. Epub 2011 Oct 11.

PMID:
21898662
20.

Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.

Southgate L, Machado RD, Snape KM, Primeau M, Dafou D, Ruddy DM, Branney PA, Fisher M, Lee GJ, Simpson MA, He Y, Bradshaw TY, Blaumeiser B, Winship WS, Reardon W, Maher ER, FitzPatrick DR, Wuyts W, Zenker M, Lamarche-Vane N, Trembath RC.

Am J Hum Genet. 2011 May 13;88(5):574-85. doi: 10.1016/j.ajhg.2011.04.013.

21.
22.

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma.

Thorleifsson G, Walters GB, Hewitt AW, Masson G, Helgason A, DeWan A, Sigurdsson A, Jonasdottir A, Gudjonsson SA, Magnusson KP, Stefansson H, Lam DS, Tam PO, Gudmundsdottir GJ, Southgate L, Burdon KP, Gottfredsdottir MS, Aldred MA, Mitchell P, St Clair D, Collier DA, Tang N, Sveinsson O, Macgregor S, Martin NG, Cree AJ, Gibson J, Macleod A, Jacob A, Ennis S, Young TL, Chan JC, Karwatowski WS, Hammond CJ, Thordarson K, Zhang M, Wadelius C, Lotery AJ, Trembath RC, Pang CP, Hoh J, Craig JE, Kong A, Mackey DA, Jonasson F, Thorsteinsdottir U, Stefansson K.

Nat Genet. 2010 Oct;42(10):906-9. doi: 10.1038/ng.661. Epub 2010 Sep 12.

23.

Elevated levels of inflammatory cytokines predict survival in idiopathic and familial pulmonary arterial hypertension.

Soon E, Holmes AM, Treacy CM, Doughty NJ, Southgate L, Machado RD, Trembath RC, Jennings S, Barker L, Nicklin P, Walker C, Budd DC, Pepke-Zaba J, Morrell NW.

Circulation. 2010 Aug 31;122(9):920-7. doi: 10.1161/CIRCULATIONAHA.109.933762. Epub 2010 Aug 16.

PMID:
20713898
24.

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

Southgate L, Dafou D, Hoyle J, Li N, Kinning E, Critchley P, Németh AH, Talbot K, Bindu PS, Sinha S, Taly AB, Raghavendra S, Müller F, Maher ER, Trembath RC.

Neurogenetics. 2010 Oct;11(4):379-89. doi: 10.1007/s10048-010-0243-8.

25.

Initial evaluation of the first year of the Foundation Assessment Programme.

Davies H, Archer J, Southgate L, Norcini J.

Med Educ. 2009 Jan;43(1):74-81. doi: 10.1111/j.1365-2923.2008.03249.x.

PMID:
19141000
26.

Insomnia and paranoia.

Freeman D, Pugh K, Vorontsova N, Southgate L.

Schizophr Res. 2009 Mar;108(1-3):280-4. doi: 10.1016/j.schres.2008.12.001. Epub 2008 Dec 20.

27.

An evaluation of a computer based education program for the diagnosis and management of dementia in primary care. An international study of the transcultural adaptations necessary for European dissemination.

Degryse J, De Lepeleire J, Southgate L, Vernooij-Dassen M, Gay B, Heyrman J.

Med Teach. 2009 May;31(5):397-402. doi: 10.1080/01421590802331438.

PMID:
18937138
28.

Specialty-specific multi-source feedback: assuring validity, informing training.

Davies H, Archer J, Bateman A, Dewar S, Crossley J, Grant J, Southgate L.

Med Educ. 2008 Oct;42(10):1014-20. doi: 10.1111/j.1365-2923.2008.03162.x.

PMID:
18823521
29.

Information processing bias in anorexia nervosa.

Southgate L, Tchanturia K, Treasure J.

Psychiatry Res. 2008 Aug 15;160(2):221-7. doi: 10.1016/j.psychres.2007.07.017. Epub 2008 Jun 24.

PMID:
18579218
30.

The development of the childhood retrospective perfectionism questionnaire (CHIRP) in an eating disorder sample.

Southgate L, Tchanturia K, Collier D, Treasure J.

Eur Eat Disord Rev. 2008 Nov;16(6):451-62. doi: 10.1002/erv.870.

PMID:
18444228
31.

A systematic review and meta-analysis of set-shifting ability in eating disorders.

Roberts ME, Tchanturia K, Stahl D, Southgate L, Treasure J.

Psychol Med. 2007 Aug;37(8):1075-84. Epub 2007 Jan 30. Review.

PMID:
17261218
32.

Specific classification of elibrary resources says more about users' preferences.

Robinson J, de Lusignan S, Kostkova P, Madge B, Southgate L.

Stud Health Technol Inform. 2006;124:719-24.

PMID:
17108600
33.

mini-PAT (Peer Assessment Tool): a valid component of a national assessment programme in the UK?

Archer J, Norcini J, Southgate L, Heard S, Davies H.

Adv Health Sci Educ Theory Pract. 2008 May;13(2):181-92. Epub 2006 Oct 12.

PMID:
17036157
34.

Developing assessments of surgical skills for the GMC Performance Procedures.

Beard JD, Jolly BC, Southgate LJ, Newble DI, Thomas EG, Rochester J.

Ann R Coll Surg Engl. 2005 Jul;87(4):242-7.

35.

Assessing the technical skills of surgical trainees.

Beard JD, Jolly BC, Newble DI, Thomas WE, Donnelly J, Southgate LJ.

Br J Surg. 2005 Jun;92(6):778-82.

PMID:
15810048
36.

Corridor consultations and the medical microbiological record: is patient safety at risk?

Heard SR, Roberts C, Furrows SJ, Kelsey M, Southgate L; General Medical Council. Specialty Assessment Working Group for Medical Microbiology.

J Clin Pathol. 2003 Jan;56(1):43-7.

37.

When enough is enough: a conceptual basis for fair and defensible practice performance assessment.

Schuwirth LW, Southgate L, Page GG, Paget NS, Lescop JM, Lew SR, Wade WB, Barón-Maldonado M.

Med Educ. 2002 Oct;36(10):925-30.

PMID:
12390459
38.

The relationship between competence and performance: implications for assessing practice performance.

Rethans JJ, Norcini JJ, Barón-Maldonado M, Blackmore D, Jolly BC, LaDuca T, Lew S, Page GG, Southgate LH.

Med Educ. 2002 Oct;36(10):901-9.

PMID:
12390456
39.

The General Medical Council's Performance Procedures: peer review of performance in the workplace.

Southgate L, Cox J, David T, Hatch D, Howes A, Johnson N, Jolly B, Macdonald E, McAvoy P, McCrorie P, Turner J.

Med Educ. 2001 Dec;35 Suppl 1:9-19.

PMID:
11895258
40.

The reproducibility of assessing radiological reporting: studies from the development of the General Medical Council's Performance Procedures.

Jolly BC, Ayers B, Macdonald MM, Armstrong P, Chalmers AH, Roberts G, Southgate LH.

Med Educ. 2001 Dec;35 Suppl 1:36-44.

PMID:
11895253
41.

Training the assessors for the General Medical Council's Performance Procedures.

McAvoy PA, McCrorie P, Jolly B, Ayers AB, Cox J, Howes AD, Macdonald EB, Slimmon DJ, Southgate L.

Med Educ. 2001 Dec;35 Suppl 1:29-35.

PMID:
11895252
42.

The General Medical Council's Performance Procedures: the development and implementation of tests of competence with examples from general practice.

Southgate L, Campbell M, Cox J, Foulkes J, Jolly B, McCrorie P, Tombleson P.

Med Educ. 2001 Dec;35 Suppl 1:20-8.

PMID:
11895251
43.

The assessment of poorly performing doctors: the development of the assessment programmes for the General Medical Council's Performance Procedures.

Southgate L, Cox J, David T, Hatch D, Howes A, Johnson N, Jolly B, Macdonald E, McAvoy P, McCrorie P, Turner J.

Med Educ. 2001 Dec;35 Suppl 1:2-8.

PMID:
11895250
44.

Setting performance standards for medical practice: a theoretical framework.

Southgate L, Hays RB, Norcini J, Mulholland H, Ayers B, Woolliscroft J, Cusimano M, McAvoy P, Ainsworth M, Haist S, Campbell M.

Med Educ. 2001 May;35(5):474-81.

PMID:
11328518
45.

GMC's proposals for revalidation. Effective revalidation system looks at how doctors practise and quality of patients' experience.

Jolly B, McAvoy P, Southgate L.

BMJ. 2001 Feb 10;322(7282):358-9. No abstract available.

PMID:
11273234
48.

Patient-oriented learning: a review of the role of the patient in the education of medical students.

Spencer J, Blackmore D, Heard S, McCrorie P, McHaffie D, Scherpbier A, Gupta TS, Singh K, Southgate L.

Med Educ. 2000 Oct;34(10):851-7. Review.

PMID:
11012935
49.

Learning together in medical and nursing training: aspirations and activity.

Ross F, Southgate L.

Med Educ. 2000 Sep;34(9):739-43.

PMID:
10972752
50.

Oral examinations-equal opportunities, ethnicity, and fairness in the MRCGP.

Roberts C, Sarangi S, Southgate L, Wakeford R, Wass V.

BMJ. 2000 Feb 5;320(7231):370-5. Review. No abstract available.

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