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Items: 1 to 20 of 125

1.

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome.

Thienpont B, Béna F, Breckpot J, Philip N, Menten B, Van Esch H, Scalais E, Salamone JM, Fong CT, Kussmann JL, Grange DK, Gorski JL, Zahir F, Yong SL, Morris MM, Gimelli S, Fryns JP, Mortier G, Friedman JM, Villard L, Bottani A, Vermeesch JR, Cheung SW, Devriendt K.

J Med Genet. 2010 Mar;47(3):155-61. doi: 10.1136/jmg.2009.070573. Epub 2009 Oct 14.

PMID:
19833603
2.

Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotype.

Demeer B, Andrieux J, Receveur A, Morin G, Petit F, Julia S, Plessis G, Martin-Coignard D, Delobel B, Firth HV, Thuresson AC, Lanco Dosen S, Sjörs K, Le Caignec C, Devriendt K, Mathieu-Dramard M.

Eur J Med Genet. 2013 Jan;56(1):26-31. doi: 10.1016/j.ejmg.2012.09.005. Epub 2012 Oct 11.

PMID:
23063576
3.

Phenotypic expansion of the interstitial 16p13.3 duplication: a case report and review of the literature.

Li Z, Liu J, Li H, Peng Y, Lv W, Long Z, Liang D, Wu L.

Gene. 2013 Dec 1;531(2):502-5. doi: 10.1016/j.gene.2013.09.006. Epub 2013 Sep 12. Review.

PMID:
24035902
4.

Maternally inherited autosomal dominant intellectual disability caused by 16p13.3 microduplication.

Lee CG, Cho E, Ahn YM.

Eur J Med Genet. 2016 Apr;59(4):210-4. doi: 10.1016/j.ejmg.2016.02.005. Epub 2016 Feb 9.

PMID:
26873618
5.

Duplication of the Rubinstein-Taybi region on 16p13.3 is associated with a distinctive phenotype.

Marangi G, Leuzzi V, Orteschi D, Grimaldi ME, Lecce R, Neri G, Zollino M.

Am J Med Genet A. 2008 Sep 15;146A(18):2313-7. doi: 10.1002/ajmg.a.32460.

PMID:
18688873
6.

Cryptic microdeletion of the CREBBP gene from t(1;16) (p36.2;p13.3) as a novel genetic defect causing Rubinstein-Taybi syndrome.

Kim SR, Kim HJ, Kim YJ, Kwon JY, Kim JW, Kim SH.

Ann Clin Lab Sci. 2013 Fall;43(4):450-6.

PMID:
24247805
7.

CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.

Menke LA, van Belzen MJ, Alders M, Cristofoli F; DDD Study, Ehmke N, Fergelot P, Foster A, Gerkes EH, Hoffer MJ, Horn D, Kant SG, Lacombe D, Leon E, Maas SM, Melis D, Muto V, Park SM, Peeters H, Peters DJ, Pfundt R, van Ravenswaaij-Arts CM, Tartaglia M, Hennekam RC.

Am J Med Genet A. 2016 Oct;170(10):2681-93. doi: 10.1002/ajmg.a.37800. Epub 2016 Jun 17.

PMID:
27311832
8.

Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects.

Hennekam RC, Tilanus M, Hamel BC, Voshart-van Heeren H, Mariman EC, van Beersum SE, van den Boogaard MJ, Breuning MH.

Am J Hum Genet. 1993 Feb;52(2):255-62.

9.

16p13 microduplication without CREBBP involvement: Moving toward a phenotype delineation.

Ciaccio C, Tucci A, Scuvera G, Estienne M, Esposito S, Milani D.

Eur J Med Genet. 2017 Mar;60(3):159-162. doi: 10.1016/j.ejmg.2016.12.006. Epub 2016 Dec 20.

PMID:
28007608
10.

Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome.

Bartsch O, Rasi S, Delicado A, Dyack S, Neumann LM, Seemanová E, Volleth M, Haaf T, Kalscheuer VM.

Hum Genet. 2006 Sep;120(2):179-86. Epub 2006 Jun 17.

PMID:
16783566
11.

Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome.

Taine L, Goizet C, Wen ZQ, Petrij F, Breuning MH, Aymé S, Saura R, Arveiler B, Lacombe D.

Am J Med Genet. 1998 Jul 7;78(3):267-70.

PMID:
9677064
12.

Expanding the phenotype of duplication of the Rubinstein-Taybi region on 16p13.3.

Dallapiccola B, Bernardini L, Novelli A, Mingarelli R.

Am J Med Genet A. 2009 Dec;149A(12):2867-70. doi: 10.1002/ajmg.a.32662. No abstract available.

PMID:
19921635
13.

Rubinstein-Taybi syndrome with de novo reciprocal translocation t(2;16)(p13.3;p13.3).

Imaizumi K, Kuroki Y.

Am J Med Genet. 1991 Mar 15;38(4):636-9.

PMID:
2063911
14.

Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.

Hamilton MJ, Newbury-Ecob R, Holder-Espinasse M, Yau S, Lillis S, Hurst JA, Clement E, Reardon W, Joss S, Hobson E, Blyth M, Al-Shehhi M, Lynch SA, Suri M; DDD Study.

Clin Dysmorphol. 2016 Oct;25(4):135-45. doi: 10.1097/MCD.0000000000000143.

PMID:
27465822
15.

Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.

Breuning MH, Dauwerse HG, Fugazza G, Saris JJ, Spruit L, Wijnen H, Tommerup N, van der Hagen CB, Imaizumi K, Kuroki Y, van den Boogaard MJ, de Pater JM, Mariman EC, Hamel BC, Himmelbauer H, Frischauf AM, Stallings R, Beverstock GC, van Ommen GJ, Hennekam RC.

Am J Hum Genet. 1993 Feb;52(2):249-54.

16.

A submicroscopic deletion involving part of the CREBBP gene detected by array-CGH in a patient with Rubinstein-Taybi syndrome.

Lai AH, Brett MS, Chin WH, Lim EC, Ng JS, Tan EC.

Gene. 2012 May 10;499(1):182-5. doi: 10.1016/j.gene.2012.02.043. Epub 2012 Mar 9.

PMID:
22426292
17.

Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients.

Stef M, Simon D, Mardirossian B, Delrue MA, Burgelin I, Hubert C, Marche M, Bonnet F, Gorry P, Longy M, Lacombe D, Coupry I, Arveiler B.

Eur J Hum Genet. 2007 Aug;15(8):843-7. Epub 2007 May 2.

18.

Rubinstein-Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: a contiguous gene syndrome?

Wójcik C, Volz K, Ranola M, Kitch K, Karim T, O'Neil J, Smith J, Torres-Martinez W.

Am J Med Genet A. 2010 Feb;152A(2):479-83. doi: 10.1002/ajmg.a.33303.

PMID:
20101707
19.

Interstitial 16p13.3 microduplication: case report and critical review of genotype-phenotype correlation.

Mattina T, Palumbo O, Stallone R, Pulvirenti RM, Di Dio L, Pavone P, Carella M, Pavone L.

Eur J Med Genet. 2012 Dec;55(12):747-52. doi: 10.1016/j.ejmg.2012.09.006. Epub 2012 Sep 29. Review.

PMID:
23032921
20.

Submicroscopic deletions at 16p13.3 in Rubinstein-Taybi syndrome: frequency and clinical manifestations in a North American population.

Wallerstein R, Anderson CE, Hay B, Gupta P, Gibas L, Ansari K, Cowchock FS, Weinblatt V, Reid C, Levitas A, Jackson L.

J Med Genet. 1997 Mar;34(3):203-6.

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