Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 205

Similar articles for PubMed (Select 24035902)

1.

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
2.

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
3.

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
4.

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
5.

Phenotypic manifestations of copy number variation in chromosome 16p13.11.

Nagamani SC, Erez A, Bader P, Lalani SR, Scott DA, Scaglia F, Plon SE, Tsai CH, Reimschisel T, Roeder E, Malphrus AD, Eng PA, Hixson PM, Kang SH, Stankiewicz P, Patel A, Cheung SW.

Eur J Hum Genet. 2011 Mar;19(3):280-6. doi: 10.1038/ejhg.2010.184. Epub 2010 Dec 8.

6.

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
7.

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.

Hannes FD, Sharp AJ, Mefford HC, de Ravel T, Ruivenkamp CA, Breuning MH, Fryns JP, Devriendt K, Van Buggenhout G, Vogels A, Stewart H, Hennekam RC, Cooper GM, Regan R, Knight SJ, Eichler EE, Vermeesch JR.

J Med Genet. 2009 Apr;46(4):223-32. doi: 10.1136/jmg.2007.055202. Epub 2008 Jun 11.

8.

A microduplication of the Rubinstein-Taybi region on 16p13.3 in a girl with a bilateral complete cleft lip and palate and severe mental retardation.

Tüysüz B, van Bon BW, Alp Z, Güzel Z, Veltman JA, de Vries BB.

Clin Dysmorphol. 2012 Oct;21(4):204-7. doi: 10.1097/MCD.0b013e3283554d15. No abstract available.

PMID:
22664659
9.

Combined deletion 18q22.2 and duplication/triplication 18q22.1 causes microcephaly, mental retardation and leukencephalopathy.

Nguyen-Minh S, Drossel K, Horn D, Rost I, Spors B, Kaindl AM.

Gene. 2013 Jul 1;523(1):92-8. doi: 10.1016/j.gene.2013.03.078. Epub 2013 Apr 5.

PMID:
23566840
10.

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
11.

Inverted duplication deletion of 8P: characterization by standard cytogenetic and SNP array analyses.

Sireteanu A, Braha E, Popescu R, Gramescu M, Gorduza EV, Rusu C.

Rev Med Chir Soc Med Nat Iasi. 2013 Jul-Sep;117(3):731-4.

PMID:
24502041
12.

Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders.

Tropeano M, Ahn JW, Dobson RJ, Breen G, Rucker J, Dixit A, Pal DK, McGuffin P, Farmer A, White PS, Andrieux J, Vassos E, Ogilvie CM, Curran S, Collier DA.

PLoS One. 2013 Apr 18;8(4):e61365. doi: 10.1371/journal.pone.0061365. Print 2013.

13.

16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2.

Barber JC, Hall V, Maloney VK, Huang S, Roberts AM, Brady AF, Foulds N, Bewes B, Volleth M, Liehr T, Mehnert K, Bateman M, White H.

Eur J Hum Genet. 2013 Feb;21(2):182-9. doi: 10.1038/ejhg.2012.144. Epub 2012 Jul 25.

14.

An Xp21.3p11.4 duplication observed in a boy with intellectual deficiency and speech delay and his asymptomatic mother.

Wu L, Liu J, Lv W, Wen J, Xia Y, Liang D.

Birth Defects Res A Clin Mol Teratol. 2013 Jul;97(7):467-70. doi: 10.1002/bdra.23118. Epub 2013 Jul 4.

PMID:
23828844
15.

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.

Møller RS, Jensen LR, Maas SM, Filmus J, Capurro M, Hansen C, Marcelis CL, Ravn K, Andrieux J, Mathieu M, Kirchhoff M, Rødningen OK, de Leeuw N, Yntema HG, Froyen G, Vandewalle J, Ballon K, Klopocki E, Joss S, Tolmie J, Knegt AC, Lund AM, Hjalgrim H, Kuss AW, Tommerup N, Ullmann R, de Brouwer AP, Strømme P, Kjaergaard S, Tümer Z, Kleefstra T.

Hum Genet. 2014 May;133(5):625-38. doi: 10.1007/s00439-013-1403-3. Epub 2013 Dec 11.

PMID:
24326587
16.

Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration.

Cuscó I, del Campo M, Vilardell M, González E, Gener B, Galán E, Toledo L, Pérez-Jurado LA.

BMC Med Genet. 2008 Apr 11;9:27. doi: 10.1186/1471-2350-9-27.

17.

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.

18.

16p subtelomeric duplication: a clinically recognizable syndrome.

Digilio MC, Bernardini L, Capalbo A, Capolino R, Gagliardi MG, Marino B, Novelli A, Dallapiccola B.

Eur J Hum Genet. 2009 Sep;17(9):1135-40. doi: 10.1038/ejhg.2009.14. Epub 2009 Mar 18.

19.

High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.

Ballif BC, Rosenfeld JA, Traylor R, Theisen A, Bader PI, Ladda RL, Sell SL, Steinraths M, Surti U, McGuire M, Williams S, Farrell SA, Filiano J, Schnur RE, Coffey LB, Tervo RC, Stroud T, Marble M, Netzloff M, Hanson K, Aylsworth AS, Bamforth JS, Babu D, Niyazov DM, Ravnan JB, Schultz RA, Lamb AN, Torchia BS, Bejjani BA, Shaffer LG.

Hum Genet. 2012 Jan;131(1):145-56. doi: 10.1007/s00439-011-1073-y. Epub 2011 Jul 29.

PMID:
21800092
20.

Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome.

Blough RI, Petrij F, Dauwerse JG, Milatovich-Cherry A, Weiss L, Saal HM, Rubinstein JH.

Am J Med Genet. 2000 Jan 3;90(1):29-34.

PMID:
10602114
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk