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Items: 1 to 50 of 204

1.

Consciousness-specific dynamic interactions of brain integration and functional diversity.

Luppi AI, Craig MM, Pappas I, Finoia P, Williams GB, Allanson J, Pickard JD, Owen AM, Naci L, Menon DK, Stamatakis EA.

Nat Commun. 2019 Oct 10;10(1):4616. doi: 10.1038/s41467-019-12658-9.

2.

Noonan Syndrome.

Allanson JE, Roberts AE.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2001 Nov 15 [updated 2019 Aug 8].

3.

Nablus syndrome: Easy to diagnose yet difficult to solve.

Allanson J, Smith A, Forzano F, Lin AE, Raas-Rothschild A, Howley HE, Boycott KM.

Am J Med Genet C Semin Med Genet. 2018 Dec;178(4):447-457. doi: 10.1002/ajmg.c.31660. Review.

PMID:
30580486
4.

Longitudinal Bedside Assessments of Brain Networks in Disorders of Consciousness: Case Reports From the Field.

Bareham CA, Allanson J, Roberts N, Hutchinson PJA, Pickard JD, Menon DK, Chennu S.

Front Neurol. 2018 Aug 21;9:676. doi: 10.3389/fneur.2018.00676. eCollection 2018.

5.

Methylphenidate-mediated motor control network enhancement in patients with traumatic brain injury.

Dorer CL, Manktelow AE, Allanson J, Sahakian BJ, Pickard JD, Bateman A, Menon DK, Stamatakis EA.

Brain Inj. 2018;32(8):1040-1049. doi: 10.1080/02699052.2018.1469166. Epub 2018 May 8.

PMID:
29738277
6.

Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies.

Leung GKC, Luk HM, Tang VHM, Gao WW, Mak CCY, Yu MHC, Wong WL, Chu YWY, Yang WL, Wong WHS, Ma ACH, Leung AYH, Jin DY, Chan KYK, Allanson J, Lo IFM, Chung BHY.

Sci Rep. 2018 Feb 5;8(1):2421. doi: 10.1038/s41598-018-20894-0.

7.

Spectrum of outcomes following traumatic brain injury-relationship between functional impairment and health-related quality of life.

Tsyben A, Guilfoyle M, Timofeev I, Anwar F, Allanson J, Outtrim J, Menon D, Hutchinson P, Helmy A.

Acta Neurochir (Wien). 2018 Jan;160(1):107-115. doi: 10.1007/s00701-017-3334-6. Epub 2017 Oct 7.

8.

A hierarchy of event-related potential markers of auditory processing in disorders of consciousness.

Beukema S, Gonzalez-Lara LE, Finoia P, Kamau E, Allanson J, Chennu S, Gibson RM, Pickard JD, Owen AM, Cruse D.

Neuroimage Clin. 2016 Aug 4;12:359-71. doi: 10.1016/j.nicl.2016.08.003. eCollection 2016.

9.

The Gene Messenger Impact Project: An Innovative Genetics Continuing Education Strategy for Primary Care Providers.

Carroll JC, Grad R, Allanson JE, Pluye P, Permaul JA, Pimlott N, Wilson BJ.

J Contin Educ Health Prof. 2016 Summer;36(3):178-85. doi: 10.1097/CEH.0000000000000079.

PMID:
27583994
10.

Supporting genetics in primary care: investigating how theory can inform professional education.

Wilson BJ, Islam R, Francis JJ, Grimshaw JM, Permaul JA, Allanson JE, Blaine S, Graham ID, Meschino WS, Ramsay CR, Carroll JC.

Eur J Hum Genet. 2016 Nov;24(11):1541-1546. doi: 10.1038/ejhg.2016.68. Epub 2016 Jun 22.

11.

Using Newborn Screening Bloodspots for Research: Public Preferences for Policy Options.

Hayeems RZ, Miller FA, Barg CJ, Bombard Y, Cressman C, Painter-Main M, Wilson B, Little J, Allanson J, Avard D, Giguere Y, Chakraborty P, Carroll JC.

Pediatrics. 2016 Jun;137(6). pii: e20154143. doi: 10.1542/peds.2015-4143. Epub 2016 May 17.

12.

Objective studies of the face of Noonan, Cardio-facio-cutaneous, and Costello syndromes: A comparison of three disorders of the Ras/MAPK signaling pathway.

Allanson JE.

Am J Med Genet A. 2016 Oct;170(10):2570-7. doi: 10.1002/ajmg.a.37736. Epub 2016 May 7.

PMID:
27155212
13.

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.

Huang L, Vanstone MR, Hartley T, Osmond M, Barrowman N, Allanson J, Baker L, Dabir TA, Dipple KM, Dobyns WB, Estrella J, Faghfoury H, Favaro FP, Goel H, Gregersen PA, Gripp KW, Grix A, Guion-Almeida ML, Harr MH, Hudson C, Hunter AG, Johnson J, Joss SK, Kimball A, Kini U, Kline AD, Lauzon J, Lildballe DL, López-González V, Martinezmoles J, Meldrum C, Mirzaa GM, Morel CF, Morton JE, Pyle LC, Quintero-Rivera F, Richer J, Scheuerle AE, Schönewolf-Greulich B, Shears DJ, Silver J, Smith AC, Temple IK; UCLA Clinical Genomics Center, van de Kamp JM, van Dijk FS, Vandersteen AM, White SM, Zackai EH, Zou R; Care4Rare Canada Consortium, Bulman DE, Boycott KM, Lines MA.

Hum Mutat. 2016 Feb;37(2):148-54. doi: 10.1002/humu.22924. Epub 2015 Nov 19. Review.

14.

Public Perceptions of the Benefits and Risks of Newborn Screening.

Miller FA, Hayeems RZ, Bombard Y, Cressman C, Barg CJ, Carroll JC, Wilson BJ, Little J, Allanson J, Chakraborty P, Giguère Y, Regier DA.

Pediatrics. 2015 Aug;136(2):e413-23. doi: 10.1542/peds.2015-0518. Epub 2015 Jul 13.

15.

The third international meeting on genetic disorders in the RAS/MAPK pathway: towards a therapeutic approach.

Korf B, Ahmadian R, Allanson J, Aoki Y, Bakker A, Wright EB, Denger B, Elgersma Y, Gelb BD, Gripp KW, Kerr B, Kontaridis M, Lazaro C, Linardic C, Lozano R, MacRae CA, Messiaen L, Mulero-Navarro S, Neel B, Plotkin S, Rauen KA, Roberts A, Silva AJ, Sittampalam SG, Zhang C, Schoyer L.

Am J Med Genet A. 2015 Aug;167A(8):1741-6. doi: 10.1002/ajmg.a.37089. Epub 2015 Apr 21.

16.

Characterization of facial phenotypes of children with congenital hypopituitarism and their parents: a matched case-control study.

Manousaki D, Allanson J, Wolf L, Deal C.

Am J Med Genet A. 2015 Jul;167(7):1525-33. doi: 10.1002/ajmg.a.37069. Epub 2015 Apr 5.

PMID:
25845580
17.

Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.

Racacho L, Byrnes AM, MacDonald H, Dranse HJ, Nikkel SM, Allanson J, Rosser E, Underhill TM, Bulman DE.

Eur J Hum Genet. 2015 Dec;23(12):1640-5. doi: 10.1038/ejhg.2015.38. Epub 2015 Mar 11.

18.

Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.

Kruszka P, Li D, Harr MH, Wilson NR, Swarr D, McCormick EM, Chiavacci RM, Li M, Martinez AF, Hart RA, McDonald-McGinn DM, Deardorff MA, Falk MJ, Allanson JE, Hudson C, Johnson JP, Saadi I, Hakonarson H, Muenke M, Zackai EH.

J Med Genet. 2015 Feb;52(2):104-10. doi: 10.1136/jmedgenet-2014-102677. Epub 2014 Nov 20.

19.

Spectral signatures of reorganised brain networks in disorders of consciousness.

Chennu S, Finoia P, Kamau E, Allanson J, Williams GB, Monti MM, Noreika V, Arnatkeviciute A, Canales-Johnson A, Olivares F, Cabezas-Soto D, Menon DK, Pickard JD, Owen AM, Bekinschtein TA.

PLoS Comput Biol. 2014 Oct 16;10(10):e1003887. doi: 10.1371/journal.pcbi.1003887. eCollection 2014 Oct.

20.

The epidemiology of a specialist neurorehabilitation clinic: implications for clinical practice and regional service development.

Seeley H, Pickard J, Allanson J, Hutchinson P.

Brain Inj. 2014;28(12):1559-67. doi: 10.3109/02699052.2014.939717. Epub 2014 Aug 5.

PMID:
25093455
21.

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.

Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, Faivre L, Giuliano F, Guion Almeida L, Juncos J, Kempers M, Eker HK, Lacombe D, Lin A, Mancini G, Melis D, Lourenço CM, Siu VM, Morin G, Nezarati M, Nowaczyk MJ, Ramer JC, Osimani S, Philip N, Pierpont ME, Procaccio V, Roseli ZS, Rossi M, Rusu C, Sznajer Y, Templin L, Uliana V, Klaus M, Van Bon B, Van Ravenswaaij C, Wainer B, Fry AE, Rump A, Hoischen A, Drunat S, Rivière JB, Dobyns WB, Pilz DT.

Eur J Hum Genet. 2015 Mar;23(3):292-301. doi: 10.1038/ejhg.2014.95. Epub 2014 Jul 23.

22.

Opposite effects on facial morphology due to gene dosage sensitivity.

Hammond P, McKee S, Suttie M, Allanson J, Cobben JM, Maas SM, Quarrell O, Smith AC, Lewis S, Tassabehji M, Sisodiya S, Mattina T, Hennekam R.

Hum Genet. 2014 Sep;133(9):1117-25. doi: 10.1007/s00439-014-1455-z. Epub 2014 Jun 3.

23.

Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.

Peddibhotla S, Nagamani SC, Erez A, Hunter JV, Holder JL Jr, Carlin ME, Bader PI, Perras HM, Allanson JE, Newman L, Simpson G, Immken L, Powell E, Mohanty A, Kang SH, Stankiewicz P, Bacino CA, Bi W, Patel A, Cheung SW.

Eur J Hum Genet. 2015 Jan;23(1):54-60. doi: 10.1038/ejhg.2014.51. Epub 2014 Apr 16. Review.

24.

Public views on participating in newborn screening using genome sequencing.

Bombard Y, Miller FA, Hayeems RZ, Barg C, Cressman C, Carroll JC, Wilson BJ, Little J, Avard D, Painter-Main M, Allanson J, Giguere Y, Chakraborty P.

Eur J Hum Genet. 2014 Nov;22(11):1248-54. doi: 10.1038/ejhg.2014.22. Epub 2014 Feb 19.

25.

Dissociable endogenous and exogenous attention in disorders of consciousness.

Chennu S, Finoia P, Kamau E, Monti MM, Allanson J, Pickard JD, Owen AM, Bekinschtein TA.

Neuroimage Clin. 2013 Oct 16;3:450-61. doi: 10.1016/j.nicl.2013.10.008. eCollection 2013.

26.

SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia.

Baker M, Strongosky AJ, Sanchez-Contreras MY, Yang S, Ferguson W, Calne DB, Calne S, Stoessl AJ, Allanson JE, Broderick DF, Hutton ML, Dickson DW, Ross OA, Wszolek ZK, Rademakers R.

Neurogenetics. 2014 Mar;15(1):23-30. doi: 10.1007/s10048-013-0378-5. Epub 2013 Oct 18.

27.

Elements of morphology: general terms for congenital anomalies.

Hennekam RC, Biesecker LG, Allanson JE, Hall JG, Opitz JM, Temple IK, Carey JC; Elements of Morphology Consortium.

Am J Med Genet A. 2013 Nov;161A(11):2726-33. doi: 10.1002/ajmg.a.36249. Epub 2013 Oct 3.

PMID:
24124000
28.

Reflex testing for Lynch syndrome: if we build it, will they come? Lessons learned from the uptake of clinical genetics services by individuals with newly diagnosed colorectal cancer (CRC).

Tomiak E, Samson A, Spector N, Mackey M, Gilpin C, Smith E, Jonker D, Allanson J, Asmis T.

Fam Cancer. 2014 Mar;13(1):75-82. doi: 10.1007/s10689-013-9677-0.

29.

Primary care role in expanded newborn screening: After the heel prick test.

Hayeems RZ, Miller FA, Carroll JC, Little J, Allanson J, Bytautas JP, Chakraborty P, Wilson BJ.

Can Fam Physician. 2013 Aug;59(8):861-8.

30.

Service use following attendance at an emergency department with an head injury: a 6-month survey.

Seeley H, Maimaris C, Allanson J, Pickard J, Hutchinson P.

Emerg Med J. 2014 Sep;31(9):724-9. doi: 10.1136/emermed-2013-202377. Epub 2013 Jun 19.

PMID:
23782723
31.

Elements of morphology: standard terminology for the external genitalia.

Hennekam RC, Allanson JE, Biesecker LG, Carey JC, Opitz JM, Vilain E.

Am J Med Genet A. 2013 Jun;161A(6):1238-63. doi: 10.1002/ajmg.a.35934. Epub 2013 May 6.

32.

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.

Nikkel SM, Dauber A, de Munnik S, Connolly M, Hood RL, Caluseriu O, Hurst J, Kini U, Nowaczyk MJ, Afenjar A, Albrecht B, Allanson JE, Balestri P, Ben-Omran T, Brancati F, Cordeiro I, da Cunha BS, Delaney LA, Destrée A, Fitzpatrick D, Forzano F, Ghali N, Gillies G, Harwood K, Hendriks YM, Héron D, Hoischen A, Honey EM, Hoefsloot LH, Ibrahim J, Jacob CM, Kant SG, Kim CA, Kirk EP, Knoers NV, Lacombe D, Lee C, Lo IF, Lucas LS, Mari F, Mericq V, Moilanen JS, Møller ST, Moortgat S, Pilz DT, Pope K, Price S, Renieri A, Sá J, Schoots J, Silveira EL, Simon ME, Slavotinek A, Temple IK, van der Burgt I, de Vries BB, Weisfeld-Adams JD, Whiteford ML, Wierczorek D, Wit JM, Yee CF, Beaulieu CL; FORGE Canada Consortium, White SM, Bulman DE, Bongers E, Brunner H, Feingold M, Boycott KM.

Orphanet J Rare Dis. 2013 Apr 27;8:63. doi: 10.1186/1750-1172-8-63.

33.

Traumatic brain injury in adults.

Kolias AG, Guilfoyle MR, Helmy A, Allanson J, Hutchinson PJ.

Pract Neurol. 2013 Aug;13(4):228-35. doi: 10.1136/practneurol-2012-000268. Epub 2013 Mar 13. Review.

PMID:
23487823
34.

Development and validation of a brief screening instrument for psychosocial risk associated with genetic testing: a pan-Canadian cohort study.

Esplen MJ, Cappelli M, Wong J, Bottorff JL, Hunter J, Carroll J, Dorval M, Wilson B, Allanson J, Semotiuk K, Aronson M, Bordeleau L, Charlemagne N, Meschino W.

BMJ Open. 2013 Mar 13;3(3). pii: e002227. doi: 10.1136/bmjopen-2012-002227.

35.

Expectations and values about expanded newborn screening: a public engagement study.

Hayeems RZ, Miller FA, Bombard Y, Avard D, Carroll J, Wilson B, Little J, Chakraborty P, Bytautas J, Giguere Y, Allanson J, Axler R.

Health Expect. 2015 Jun;18(3):419-29. doi: 10.1111/hex.12047. Epub 2013 Feb 1.

36.

Maternal age-based prenatal screening for chromosomal disorders: attitudes of women and health care providers toward changes.

Carroll JC, Rideout A, Wilson BJ, Allanson J, Blaine S, Esplen MJ, Farrell S, Graham GE, MacKenzie J, Meschino WS, Prakash P, Shuman C, Taylor S, Tobin S.

Can Fam Physician. 2013 Jan;59(1):e39-47.

37.

Noonan syndrome.

Roberts AE, Allanson JE, Tartaglia M, Gelb BD.

Lancet. 2013 Jan 26;381(9863):333-42. doi: 10.1016/S0140-6736(12)61023-X. Epub 2013 Jan 10. Review.

38.

fMRI for vegetative and minimally conscious states.

Turner-Stokes L, Kitzinger J, Gill-Thwaites H, Playford ED, Wade D, Allanson J, Pickard J; Royal College of Physicians' Prolonged Disorders of Consciousness Guidelines Development Group.

BMJ. 2012 Nov 28;345:e8045. doi: 10.1136/bmj.e8045. No abstract available.

PMID:
23190911
39.

Special Section. Syndrome-specific growth charts.

Hall JG, Allanson JE, Gripp KW, Slavotinek AM.

Am J Med Genet A. 2012 Nov;158A(11):2645-6. doi: 10.1002/ajmg.a.35704. Epub 2012 Oct 4. No abstract available.

PMID:
23038170
40.

Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis.

Tully HM, Dempsey JC, Ishak GE, Adam MP, Curry CJ, Sanchez-Lara P, Hunter A, Gripp KW, Allanson J, Cunniff C, Glass I, Millen KJ, Doherty D, Dobyns WB.

Am J Med Genet A. 2012 Oct;158A(10):2393-406. doi: 10.1002/ajmg.a.35561. Epub 2012 Sep 10.

41.

Brachial artery occlusion in a young adult with an ACTA2 thoracic aortic aneurysm.

Al-Mohaissen M, Allanson JE, O'Connor MD, Veinot JP, Brandys TM, Maharajh G, Dennie CJ, Beauchesne LM.

Vasc Med. 2012 Oct;17(5):326-9. doi: 10.1177/1358863X12453973. Epub 2012 Sep 3.

PMID:
22946110
42.

Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype.

Allanson J, Smith A, Hare H, Albrecht B, Bijlsma E, Dallapiccola B, Donti E, Fitzpatrick D, Isidor B, Lachlan K, Le Caignec C, Prontera P, Raas-Rothschild A, Rogaia D, van Bon B, Aradhya S, Crocker SF, Jarinova O, McGowan-Jordan J, Boycott K, Bulman D, Fagerberg CR.

Am J Med Genet A. 2012 Sep;158A(9):2091-9. doi: 10.1002/ajmg.a.35446. Epub 2012 Jul 20.

PMID:
22821852
43.

Efficiency of hospital reporting systems in detecting head injury admissions.

Seeley H, Allanson J, Pickard J, Hutchinson P.

Br J Neurosurg. 2012 Oct;26(5):730-5. doi: 10.3109/02688697.2012.693647. Epub 2012 Jun 18.

PMID:
22702387
44.

Novel clinical findings in a case of postnatally diagnosed trisomy 12 mosaicism.

Al-Hertani W, McGowan-Jordan J, Allanson JE.

Am J Med Genet A. 2012 Jun;158A(6):1452-4. doi: 10.1002/ajmg.a.35354. Epub 2012 May 14.

PMID:
22585428
45.

Apparent transmission distortion of a pericentric chromosome one inversion in a large multi-generation pedigree.

Honeywell C, Argiropoulos B, Douglas S, Blumenthal AL, Allanson J, McGowan-Jordan J, McCready ME.

Am J Med Genet A. 2012 Jun;158A(6):1262-8. doi: 10.1002/ajmg.a.35286. Epub 2012 May 11.

PMID:
22581752
46.

The face signature of fibrodysplasia ossificans progressiva.

Hammond P, Suttie M, Hennekam RC, Allanson J, Shore EM, Kaplan FS.

Am J Med Genet A. 2012 Jun;158A(6):1368-80. doi: 10.1002/ajmg.a.35346. Epub 2012 May 11.

47.

Family history tools in primary care: does one size fit all?

Wilson BJ, Carroll JC, Allanson J, Little J, Etchegary H, Avard D, Potter BK, Castle D, Grimshaw JM, Chakraborty P.

Public Health Genomics. 2012;15(3-4):181-8. doi: 10.1159/000336431. Epub 2012 Apr 4. Review.

48.

Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype.

Nowaczyk MJ, Tan M, Hamid JS, Allanson JE.

Am J Med Genet A. 2012 May;158A(5):1020-8. doi: 10.1002/ajmg.a.35285. Epub 2012 Mar 21.

PMID:
22438180
49.

Standard terminology for phenotypic variations: the elements of morphology project, its current progress, and future directions.

Carey JC, Allanson JE, Hennekam RC, Biesecker LG.

Hum Mutat. 2012 May;33(5):781-6. doi: 10.1002/humu.22053. Epub 2012 Apr 13.

PMID:
22331827
50.

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.

Hood RL, Lines MA, Nikkel SM, Schwartzentruber J, Beaulieu C, Nowaczyk MJ, Allanson J, Kim CA, Wieczorek D, Moilanen JS, Lacombe D, Gillessen-Kaesbach G, Whiteford ML, Quaio CR, Gomy I, Bertola DR, Albrecht B, Platzer K, McGillivray G, Zou R, McLeod DR, Chudley AE, Chodirker BN, Marcadier J; FORGE Canada Consortium, Majewski J, Bulman DE, White SM, Boycott KM.

Am J Hum Genet. 2012 Feb 10;90(2):308-13. doi: 10.1016/j.ajhg.2011.12.001. Epub 2012 Jan 19.

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