Trine Elisabeth Prescott
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Author network for Trine Elisabeth Prescott by COREMINE medical


Publications 2017

Low KJ, Ansari M, Abou Jamra R, Clarke A, El Chehadeh S, FitzPatrick DR, Greenslade M, Henderson A, Hurst J, Keller K, Kuentz P, Prescott T, Roessler F, Selmer KK, Schneider MC, Stewart F, Tatton-Brown K, Thevenon J, Vigeland MD, Vogt J, Willems M, Zonana J, Study DD, Smithson SF (2017)
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features
Eur J Hum Genet, 25 (5), 552-559
PubMed 28327570

Rustad CF, Dahl HM, Bowers NL, Sitek JC, Heiberg A, Huson S, Prescott T, Evans DGR (2017)
Neurofibromatosis type 2: Multiple intra-dermal tumors in a toddler
Am J Med Genet A, 173 (5), 1447-1449
PubMed 28371307

Publications 2016

Ansari M, Rainger J, Hanson IM, Williamson KA, Sharkey F, Harewood L, Sandilands A, Clayton-Smith J, Dollfus H, Bitoun P, Meire F, Fantes J, Franco B, Lorenz B, Taylor DS, Stewart F, Willoughby CE, McEntagart M, Khaw PT, Clericuzio C, Van Maldergem L, Williams D, Newbury-Ecob R, Traboulsi EI, Silva ED et al. (2016)
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome
PLoS One, 11 (4), e0153757
PubMed 27124303

McEntagart M, Williamson KA, Rainger JK, Wheeler A, Seawright A, De Baere E, Verdin H, Bergendahl LT, Quigley A, Rainger J, Dixit A, Sarkar A, López Laso E, Sanchez-Carpintero R, Barrio J, Bitoun P, Prescott T, Riise R, McKee S, Cook J, McKie L, Ceulemans B, Meire F, Temple IK, Prieur F et al. (2016)
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect
Am J Hum Genet, 98 (5), 981-92
PubMed 27108798

Prescott T (2016)
Predictive testing should be in the child's best interests
Tidsskr Nor Laegeforen, 136 (17), 1421
PubMed 27686188

Prescott TE, Kulseth MA, Heimdal KR, Stadheim B, Hopp E, Gambin T, Coban Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Stray-Pedersen A (2016)
Two male sibs with severe micrognathia and a missense variant in MED12
Eur J Med Genet, 59 (8), 367-72
PubMed 27286923

Samarakoon P, Gambin T, Chinn IK, Akdemir ZHC, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OK, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis C, Canter D, Mace EM, Vece T, Allen CE, Abhyankar HA, Boone P, Beck CR, Wiszniewski WK, Fevang B et al. (2016)
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
J Allergy Clin Immunol, 139 (1), 232-245
PubMed 27577878

Publications 2015

Horn D, Prescott T, Houge G, Brække K, Rosendahl K, Nishimura G, FitzPatrick DR, Spranger J (2015)
A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation
Eur J Med Genet, 58 (8), 387-91
PubMed 26116559

Stray-Pedersen A, Cobben JM, Prescott TE, Lee S, Cang C, Aranda K, Ahmed S, Alders M, Gerstner T, Aslaksen K, Tétreault M, Qin W, Hartley T, Jhangiani SN, Muzny DM, Tarailo-Graovac M, van Karnebeek CD, Care4Rare Canada Consortium, Baylor-Hopkins Center for Mendelian Genomics, Lupski JR, Ren D, Yoon G (2015)
Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability
Am J Hum Genet, 98 (1), 202-9
PubMed 26708751

Tønne E, Holdhus R, Stansberg C, Stray-Pedersen A, Petersen K, Brunner HG, Gilissen C, Hoischen A, Prescott T, Steen VM, Fiskerstrand T (2015)
Syndromic X-linked intellectual disability segregating with a missense variant in RLIM
Eur J Hum Genet, 23 (12), 1652-6
PubMed 25735484

Publications 2014

Marcos S, Sarfati J, Leroy C, Fouveaut C, Parent P, Metz C, Wolczynski S, Gérard M, Bieth E, Kurtz F, Verier-Mine O, Perrin L, Archambeaud F, Cabrol S, Rodien P, Hove H, Prescott T, Lacombe D, Christin-Maitre S, Touraine P, Hieronimus S, Dewailly D, Young J, Pugeat M, Hardelin JP et al. (2014)
The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients
J Clin Endocrinol Metab, 99 (10), E2138-43
PubMed 25077900

Rainger J, Pehlivan D, Johansson S, Bengani H, Sanchez-Pulido L, Williamson KA, Ture M, Barker H, Rosendahl K, Spranger J, Horn D, Meynert A, Floyd JA, Prescott T, Anderson CA, Rainger JK, Karaca E, Gonzaga-Jauregui C, Jhangiani S, Muzny DM, Seawright A, Soares DC, Kharbanda M, Murday V, Finch A et al. (2014)
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations
Am J Hum Genet, 94 (6), 915-23
PubMed 24906020

Rezwan FI, Poole RL, Prescott T, Walker JM, Karen Temple I, Mackay DJ (2014)
Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b
Eur J Hum Genet, 23 (4), 494-9
PubMed 25005734

Zink AM, Wohlleber E, Engels H, Rødningen OK, Ravn K, Heilmann S, Rehnitz J, Katzorke N, Kraus C, Blichfeldt S, Hoffmann P, Reutter H, Brockschmidt FF, Kreiß-Nachtsheim M, Vogt PH, Prescott TE, Tümer Z, Lee JA (2014)
Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies
Mol Syndromol, 5 (2), 65-75
PubMed 24715853

Publications 2013

Boissé Lomax L, Bayly MA, Hjalgrim H, Møller RS, Vlaar AM, Aaberg KM, Marquardt I, Gandolfo LC, Willemsen M, Kamsteeg EJ, O'Sullivan JD, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Said I, Prescott T, Stray-Pedersen A, Rasmussen M, Vears DF, Lehesjoki AE, Corbett MA, Bahlo M, Gecz J, Dibbens LM et al. (2013)
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation
Brain, 136 (Pt 4), 1146-54
PubMed 23449775

Holm I, Monclair T, Lundar T, Stadheim B, Prescott TE, Eiklid KL (2013)
A 5.8 kb deletion removing the entire MNX1 gene in a Norwegian family with Currarino syndrome
Gene, 518 (2), 457-60
PubMed 23370340

Prescott T (2013)
A diagnostic revolution
Tidsskr Nor Laegeforen, 133 (15), 1550-1
PubMed 23970244

Prescott T, Redfors M, Rustad CF, Eiklid KL, Geirdal AØ, Storhaug K, Jensen JL (2013)
Characterization of a Norwegian cherubism cohort; molecular genetic findings, oral manifestations and quality of life
Eur J Med Genet, 56 (3), 131-7
PubMed 23298620

Publications 2012

Daniel PB, Morgan T, Alanay Y, Bijlsma E, Cho TJ, Cole T, Collins F, David A, Devriendt K, Faivre L, Ikegawa S, Jacquemont S, Jesic M, Krakow D, Liebrecht D, Maitz S, Marlin S, Morin G, Nishikubo T, Nishimura G, Prescott T, Scarano G, Shafeghati Y, Skovby F, Tsutsumi S et al. (2012)
Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity
Hum Mutat, 33 (4), 665-73
PubMed 22190451

Kleefstra T, Kramer JM, Neveling K, Willemsen MH, Koemans TS, Vissers LE, Wissink-Lindhout W, Fenckova M, van den Akker WM, Kasri NN, Nillesen WM, Prescott T, Clark RD, Devriendt K, van Reeuwijk J, de Brouwer AP, Gilissen C, Zhou H, Brunner HG, Veltman JA, Schenck A, van Bokhoven H (2012)
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability
Am J Hum Genet, 91 (1), 73-82
PubMed 22726846

Slavotinek AM, Mehrotra P, Nazarenko I, Tang PL, Lao R, Cameron D, Li B, Chu C, Chou C, Marqueling AL, Yahyavi M, Cordoro K, Frieden I, Glaser T, Prescott T, Morren MA, Devriendt K, Kwok PY, Petkovich M, Desnick RJ (2012)
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1
Hum Mol Genet, 22 (4), 696-703
PubMed 23161670

Sorte H, Mørkrid L, Rødningen O, Kulseth MA, Stray-Pedersen A, Matthijs G, Race V, Houge G, Fiskerstrand T, Bjurulf B, Lyle R, Prescott T (2012)
Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes
Eur J Med Genet, 55 (3), 196-202
PubMed 22306853

Publications 2011

Prescott TE, Smith MJ, Evans DG (2011)
Comment on the article "Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri" by van den Munckhof et al
Neurogenetics, 13 (1), 103-4
PubMed 22203059

Publications 2010

Kulseth MA, Lyle R, Rødningen OK, Sorte H, Prescott T (2010)
Exon trapping analysis of c.301-19G > A in intron 1 of the SHH gene in a patient with a microform of holoprosencephaly
Eur J Med Genet, 54 (2), 130-5
PubMed 21044704

Rødningen OK, Prescott TE, Hovland R, Eiklid K, Houge G (2010)
[Determination of chromosome aberrations with the help of DNA arrays]
Tidsskr Nor Laegeforen, 130 (9), 944-7
PubMed 20453958

Publications 2009

Alders M, Hogan BM, Gjini E, Salehi F, Al-Gazali L, Hennekam EA, Holmberg EE, Mannens MM, Mulder MF, Offerhaus GJ, Prescott TE, Schroor EJ, Verheij JB, Witte M, Zwijnenburg PJ, Vikkula M, Schulte-Merker S, Hennekam RC (2009)
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
Nat Genet, 41 (12), 1272-4
PubMed 19935664

Lybaek H, Ørstavik KH, Prescott T, Hovland R, Breilid H, Stansberg C, Steen VM, Houge G (2009)
An 8.9 Mb 19p13 duplication associated with precocious puberty and a sporadic 3.9 Mb 2q23.3q24.1 deletion containing NR4A2 in mentally retarded members of a family with an intrachromosomal 19p-into-19q between-arm insertion
Eur J Hum Genet, 17 (7), 904-10
PubMed 19156171

Molven A, Søvik O, von der Lippe C, Steine SJ, Njølstad PR, Houge G, Prescott TE (2009)
[Molecular genetic diagnostics in syndromes associated with the RAS/MAPK signalling pathway]
Tidsskr Nor Laegeforen, 129 (22), 2358-61
PubMed 19935936

Prescott TE, Rødningen OK, Bjørnstad A, Stray-Pedersen A (2009)
Two brothers with a microduplication including the MECP2 gene: rapid head growth in infancy and resolution of susceptibility to infection
Clin Dysmorphol, 18 (2), 78-82
PubMed 19057379

Publications 2008

Kaasen A, Prescott TE, Heiberg A, Scott H, Haugen G (2008)
Investigations as a prerequisite for genetic counseling after termination of pregnancy based on sonographic detection of serious central nervous system--or skeletal anomalies
Acta Obstet Gynecol Scand, 87 (10), 998-1005
PubMed 18798055

Rødningen OK, Prescott T, Eriksson AS, Røsby O (2008)
1.4Mb recurrent 22q11.2 distal deletion syndrome, two new cases expand the phenotype
Eur J Med Genet, 51 (6), 646-50
PubMed 18725332

Publications 2007

Simpson MA, Hsu R, Keir LS, Hao J, Sivapalan G, Ernst LM, Zackai EH, Al-Gazali LI, Hulskamp G, Kingston HM, Prescott TE, Ion A, Patton MA, Murday V, George A, Crosby AH (2007)
Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development
Am J Hum Genet, 81 (5), 906-12
PubMed 17924334

Ørstavik KH, Knudsen GP, Nordgarden H, Ormerod E, Strømme P, Lazarou LP, Rosser LG, Prescott T, Houge G (2007)
Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene
Am J Med Genet A, 143A (13), 1510-3
PubMed 17568423

Ørstavik KH, Tangeraas T, Molven A, Prescott TE (2007)
Distal phalangeal creases--a distinctive dysmorphic feature in disorders of the RAS signalling pathway?
Eur J Med Genet, 50 (2), 155-8
PubMed 17324647

Publications 2006

Oxman AD, Sackett DL, Chalmers I, Prescott TE (2006)
A surrealistic mega-analysis of redisorganization theories
Healthc Q, 9 (3), 50-4
PubMed 16830401

Prescott TE, Hennekam RC (2006)
Posterior helical pits
Eur J Med Genet, 50 (2), 159-61
PubMed 17223397

Publications 2005

Oxman AD, Sackett DL, Chalmers I, Prescott TE (2005)
A surrealistic mega-analysis of redisorganization theories
J R Soc Med, 98 (12), 563-8
PubMed 16319441

Prescott T, Devriendt K, Hamel B, Pasch MC, Peeters H, Vander Poorten V, Tallerås O (2005)
Focal preauricular dermal dysplasia: distinctive congenital lesions with a bilateral and symmetric distribution
Eur J Med Genet, 49 (2), 135-9
PubMed 16530710

Zweier C, Thiel CT, Dufke A, Crow YJ, Meinecke P, Suri M, Ala-Mello S, Beemer F, Bernasconi S, Bianchi P, Bier A, Devriendt K, Dimitrov B, Firth H, Gallagher RC, Garavelli L, Gillessen-Kaesbach G, Hudgins L, Kääriäinen H, Karstens S, Krantz I, Mannhardt A, Medne L, Mücke J, Kibaek M et al. (2005)
Clinical and mutational spectrum of Mowat-Wilson syndrome
Eur J Med Genet, 48 (2), 97-111
PubMed 16053902

Publications 2004

Matlary A, Prescott T, Tvedt B, Lindberg K, Server A, Aicardi J, Strømme P (2004)
Aicardi syndrome in a girl with mild developmental delay, absence of epilepsy and normal EEG
Clin Dysmorphol, 13 (4), 257-60
PubMed 15365465

Publications 1998

Rosenbek JC, Robbins J, Willford WO, Kirk G, Schiltz A, Sowell TW, Deutsch SE, Milanti FJ, Ashford J, Gramigna GD, Fogarty A, Dong K, Rau MT, Prescott TE, Lloyd AM, Sterkel MT, Hansen JE (1998)
Comparing treatment intensities of tactile-thermal application
Dysphagia, 13 (1), 1-9
PubMed 9391220

Publications 1994

Selinger M, Prescott TE, Hoffman I (1994)
Temperature acceleration in cold oral stimulation
Dysphagia, 9 (2), 83-7
PubMed 8005011

Publications 1989

Selinger M, Prescott TE, Shucard DW (1989)
Auditory event-related potential probes and behavioral measures of aphasia
Brain Lang, 36 (3), 377-90
PubMed 2468393

Publications 1988

Loverso FL, Prescott TE, Selinger M (1988)
Cueing verbs: a treatment strategy for aphasic adults (CVT)
J Rehabil Res Dev, 25 (2), 47-60
PubMed 2452250

Publications 1980

Blanchard SL, Prescott TE (1980)
The effects of temporal expansion upon auditory comprehension in aphasic adults
Br J Disord Commun, 15 (2), 115-27
PubMed 7459246

Rausch MA, Prescott TE, DeWolfe AS (1980)
Schizophrenic and aphasic language: discriminable or not?
J Consult Clin Psychol, 48 (1), 63-70
PubMed 7365044

Publications 1975

Rosenbek JC, McNeil MR, Lemme ML, Prescott TE, Alfrey AC (1975)
Speech and language findings in a chronic hemodialysis patient: a case report
J Speech Hear Disord, 40 (2), 245-52
PubMed 1234935

Publications 1974

Prescott TE, Tesauro PA (1974)
A method for quantification and description of clinical interactions with aurally handicapped children
J Speech Hear Disord, 39 (3), 235-43
PubMed 4411660

Publications 1972

Boone DR, Prescott TE (1972)
Content and sequence analyses of speech and hearing therapy
ASHA, 14 (2), 58-62
PubMed 4115941

Publications 1968

Boone DR, Prescott TE (1968)
Development of left-right discrimination in normal children
Percept Mot Skills, 26 (1), 267-74
PubMed 5642535