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Items: 1 to 20 of 41

1.

Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management.

Avila M, Dyment DA, Sagen JV, St-Onge J, Moog U, Chung BH, Mansour S, Albanese A, Garcia S, Ortiz Martin D, Lopez AA, Claudi T, König R, White SM, Sawyer SL, Bernstein JA, Slattery L, Jobling RK, Yoon G, Curry CJ, Le Merrer M, Le Luyer B, Héron D, Mathieu-Dramard M, Bitoun P, Odent S, Amiel J, Kuentz P, Thevenon J, Laville M, Reznik Y, Fagour C, Nunes ML, Delesalle D, Manouvrier S, Lascols O, Huet F, Binquet C, Faivre L, Rivière JB, Vigouroux C, Njølstad PR, Innes AM, Thauvin-Robinet C.

Clin Genet. 2015 Oct 24. doi: 10.1111/cge.12688. [Epub ahead of print]

2.

POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome.

Lessel D, Hisama FM, Szakszon K, Saha B, Sanjuanelo AB, Salbert BA, Steele PD, Baldwin J, Brown WT, Piussan C, Plauchu H, Szilvássy J, Horkay E, Högel J, Martin GM, Herr AJ, Oshima J, Kubisch C.

Hum Mutat. 2015 Nov;36(11):1070-9. doi: 10.1002/humu.22833. Epub 2015 Aug 6.

3.

Clinical utility gene card for: Werner Syndrome--Update 2014.

Hisama FM, Kubisch C, Martin GM, Oshima J.

Eur J Hum Genet. 2015 Jun;23(6). doi: 10.1038/ejhg.2014.171. Epub 2014 Sep 3. No abstract available.

4.

Human RecQ helicases in DNA repair, recombination, and replication.

Croteau DL, Popuri V, Opresko PL, Bohr VA.

Annu Rev Biochem. 2014;83:519-52. doi: 10.1146/annurev-biochem-060713-035428. Epub 2014 Mar 3. Review.

5.

Search and insights into novel genetic alterations leading to classical and atypical Werner syndrome.

Oshima J, Hisama FM.

Gerontology. 2014;60(3):239-46. doi: 10.1159/000356030. Epub 2014 Jan 3. Review.

6.

Sitagliptin improves postprandial hyperglycemia by inhibiting glucagon secretion in Werner syndrome with diabetes.

Watanabe K, Kobayashi K, Takemoto M, Ishibashi R, Yamaga M, Kawamura H, Fujimoto M, Ishikawa T, Onishi S, Okabe E, He P, Yokote K.

Diabetes Care. 2013 Aug;36(8):e119. doi: 10.2337/dc13-0709. No abstract available.

7.

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy.

Weedon MN, Ellard S, Prindle MJ, Caswell R, Lango Allen H, Oram R, Godbole K, Yajnik CS, Sbraccia P, Novelli G, Turnpenny P, McCann E, Goh KJ, Wang Y, Fulford J, McCulloch LJ, Savage DB, O'Rahilly S, Kos K, Loeb LA, Semple RK, Hattersley AT.

Nat Genet. 2013 Aug;45(8):947-50. doi: 10.1038/ng.2670. Epub 2013 Jun 16.

8.

Spectrum and risk of neoplasia in Werner syndrome: a systematic review.

Lauper JM, Krause A, Vaughan TL, Monnat RJ Jr.

PLoS One. 2013;8(4):e59709. doi: 10.1371/journal.pone.0059709. Epub 2013 Apr 1. Review.

9.

Werner syndrome: a changing pattern of clinical manifestations in Japan (1917~2008).

Goto M, Ishikawa Y, Sugimoto M, Furuichi Y.

Biosci Trends. 2013 Feb;7(1):13-22. Review.

10.

Diagnostic criteria for Werner syndrome based on Japanese nationwide epidemiological survey.

Takemoto M, Mori S, Kuzuya M, Yoshimoto S, Shimamoto A, Igarashi M, Tanaka Y, Miki T, Yokote K.

Geriatr Gerontol Int. 2013 Apr;13(2):475-81. doi: 10.1111/j.1447-0594.2012.00913.x. Epub 2012 Jul 23.

PMID:
22817610
11.

Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severity.

Barrowman J, Wiley PA, Hudon-Miller SE, Hrycyna CA, Michaelis S.

Hum Mol Genet. 2012 Sep 15;21(18):4084-93. doi: 10.1093/hmg/dds233. Epub 2012 Jun 19.

12.

Bosentan: a novel therapy for leg ulcers in Werner syndrome.

Noda S, Asano Y, Masuda S, Miyagawa T, Sugita M, Yamamoto M, Kogure A, Tamaki Z, Mitsui H, Hoashi T, Sugaya M, Sato S.

J Am Acad Dermatol. 2011 Aug;65(2):e54-5. doi: 10.1016/j.jaad.2011.03.013. No abstract available.

PMID:
21763553
13.

Bosentan treatment of digital ulcers related to systemic sclerosis: results from the RAPIDS-2 randomised, double-blind, placebo-controlled trial.

Matucci-Cerinic M, Denton CP, Furst DE, Mayes MD, Hsu VM, Carpentier P, Wigley FM, Black CM, Fessler BJ, Merkel PA, Pope JE, Sweiss NJ, Doyle MK, Hellmich B, Medsger TA Jr, Morganti A, Kramer F, Korn JH, Seibold JR.

Ann Rheum Dis. 2011 Jan;70(1):32-8. doi: 10.1136/ard.2010.130658. Epub 2010 Aug 30.

14.

WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.

Friedrich K, Lee L, Leistritz DF, Nürnberg G, Saha B, Hisama FM, Eyman DK, Lessel D, Nürnberg P, Li C, Garcia-F-Villalta MJ, Kets CM, Schmidtke J, Cruz VT, Van den Akker PC, Boak J, Peter D, Compoginis G, Cefle K, Ozturk S, López N, Wessel T, Poot M, Ippel PF, Groff-Kellermann B, Hoehn H, Martin GM, Kubisch C, Oshima J.

Hum Genet. 2010 Jul;128(1):103-11. doi: 10.1007/s00439-010-0832-5. Epub 2010 May 5.

15.

Structural basis for DNA strand separation by the unconventional winged-helix domain of RecQ helicase WRN.

Kitano K, Kim SY, Hakoshima T.

Structure. 2010 Feb 10;18(2):177-87. doi: 10.1016/j.str.2009.12.011.

16.

Mandibuloacral dysplasia type A in childhood.

Garavelli L, D'Apice MR, Rivieri F, Bertoli M, Wischmeijer A, Gelmini C, De Nigris V, Albertini E, Rosato S, Virdis R, Bacchini E, Dal Zotto R, Banchini G, Iughetti L, Bernasconi S, Superti-Furga A, Novelli G.

Am J Med Genet A. 2009 Oct;149A(10):2258-64. doi: 10.1002/ajmg.a.33005.

PMID:
19764019
17.

The clinical characteristics of Werner syndrome: molecular and biochemical diagnosis.

Muftuoglu M, Oshima J, von Kobbe C, Cheng WH, Leistritz DF, Bohr VA.

Hum Genet. 2008 Nov;124(4):369-77. doi: 10.1007/s00439-008-0562-0. Epub 2008 Sep 23. Review.

18.

Epidemiology and clinical aspects of Werner's syndrome in North Sardinia: description of a cluster.

Masala MV, Scapaticci S, Olivieri C, Pirodda C, Montesu MA, Cuccuru MA, Pruneddu S, Danesino C, Cerimele D.

Eur J Dermatol. 2007 May-Jun;17(3):213-6. Epub 2007 May 4. Erratum in: Eur J Dermatol. 2007 Sep-Oct;17(5):360. Scapaticci, S [added].

PMID:
17478382
19.

Werner syndrome and mutations of the WRN and LMNA genes in France.

Uhrhammer NA, Lafarge L, Dos Santos L, Domaszewska A, Lange M, Yang Y, Aractingi S, Bessis D, Bignon YJ.

Hum Mutat. 2006 Jul;27(7):718-9.

PMID:
16786514
20.

The spectrum of WRN mutations in Werner syndrome patients.

Huang S, Lee L, Hanson NB, Lenaerts C, Hoehn H, Poot M, Rubin CD, Chen DF, Yang CC, Juch H, Dorn T, Spiegel R, Oral EA, Abid M, Battisti C, Lucci-Cordisco E, Neri G, Steed EH, Kidd A, Isley W, Showalter D, Vittone JL, Konstantinow A, Ring J, Meyer P, Wenger SL, von Herbay A, Wollina U, Schuelke M, Huizenga CR, Leistritz DF, Martin GM, Mian IS, Oshima J.

Hum Mutat. 2006 Jun;27(6):558-67.

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