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Items: 1 to 20 of 176

1.

Clinical and molecular characterization of a second case of 7p22.1 microduplication.

Preiksaitiene E, Kasnauskiene J, Ciuladaite Z, Tumiene B, Patsalis PC, Kučinskas V.

Am J Med Genet A. 2012 May;158A(5):1200-3. doi: 10.1002/ajmg.a.35300. Epub 2012 Apr 11.

PMID:
22495914
2.

Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH.

Chui JV, Weisfeld-Adams JD, Tepperberg J, Mehta L.

Am J Med Genet A. 2011 Oct;155A(10):2508-11.

PMID:
21998864
3.

7p22.1 microduplication syndrome: Refinement of the critical region.

Ronzoni L, Grassi FS, Pezzani L, Tucci A, Baccarin M, Esposito S, Milani D.

Eur J Med Genet. 2017 Feb;60(2):114-117. doi: 10.1016/j.ejmg.2016.11.005. Epub 2016 Nov 16.

PMID:
27866048
4.

7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature.

Caselli R, Ballarati L, Vignoli A, Peron A, Recalcati MP, Catusi I, Larizza L, Giardino D.

Eur J Med Genet. 2015 Nov;58(11):578-83. doi: 10.1016/j.ejmg.2015.08.003. Epub 2015 Aug 19. Review.

PMID:
26297194
5.

Refinement of the critical region in a new 7p22.1 microduplication syndrome including craniofacial dysmorphism and speech delay.

Pebrel-Richard C, Rouzade C, Kemeny S, Eymard-Pierre E, Gay-Bellile M, Gouas L, Tchirkov A, Goumy C, Vago P.

Am J Med Genet A. 2014 Nov;164A(11):2964-7. doi: 10.1002/ajmg.a.36715. Epub 2014 Aug 14. No abstract available.

PMID:
25124455
6.

A unique combination of 17pter trisomy and 21qter monosomy in a boy with developmental delay, severe intellectual disability, growth retardation and dysmorphisms.

Zheng Z, Yao RE, Geng J, Jin X, Shen Y, Ying D, Fu Q, Yu Y.

Gene. 2013 Mar 10;516(2):301-6. doi: 10.1016/j.gene.2012.12.090. Epub 2013 Jan 4.

PMID:
23296059
7.

Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3.

Jamsheer A, Sowińska A, Simon D, Jamsheer-Bratkowska M, Trzeciak T, Latos-Bieleńska A.

BMC Med Genet. 2013 Jan 24;14:13. doi: 10.1186/1471-2350-14-13.

8.

Case of 7p22.1 Microduplication Detected by Whole Genome Microarray (REVEAL) in Workup of Child Diagnosed with Autism.

Goitia V, Oquendo M, Stratton R.

Case Rep Genet. 2015;2015:212436. doi: 10.1155/2015/212436. Epub 2015 Mar 29.

9.

Molecular characterization of microduplication 22q11.2 in a girl with hypernasal speech.

Soysal Y, Vermeesch J, Davani NA, Şensoy N, Hekimler K, İmirzalıoğlu N.

Genet Mol Res. 2011 Sep 21;10(3):2148-54. doi: 10.4238/vol10-3gmr1339.

10.

[3q29 microduplication syndrome].

Aleixandre Blanquer F, Manchón Trives I, Forniés Arnau MJ, Alcaraz Mas LA, Picó Alfonso N, Galán Sánchez F.

An Pediatr (Barc). 2011 Dec;75(6):409-12. doi: 10.1016/j.anpedi.2011.08.002. Epub 2011 Oct 5. Spanish.

11.

Microdeletion and microduplication 17q21.31 plus an additional CNV, in patients with intellectual disability, identified by array-CGH.

Kitsiou-Tzeli S, Frysira H, Giannikou K, Syrmou A, Kosma K, Kakourou G, Leze E, Sofocleous C, Kanavakis E, Tzetis M.

Gene. 2012 Jan 15;492(1):319-24. doi: 10.1016/j.gene.2011.10.023. Epub 2011 Oct 20.

PMID:
22037486
12.

Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowth.

Tarsitano M, Ceglia C, Novelli A, Capalbo A, Lombardo B, Pastore L, Fioretti G, Vicari L, Pisanti MA, Friso P, Cavaliere ML.

Gene. 2014 Feb 15;536(1):213-6. doi: 10.1016/j.gene.2013.11.051. Epub 2013 Dec 4.

PMID:
24315824
13.

A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome.

Roos L, Jønch AE, Kjaergaard S, Taudorf K, Simonsen H, Hamborg-Petersen B, Brøndum-Nielsen K, Kirchhoff M.

J Med Genet. 2009 Oct;46(10):703-10. doi: 10.1136/jmg.2008.065094. Epub 2009 Jun 10.

PMID:
19520700
14.

Cryptic 7q36.2q36.3 deletion causes multiple congenital eye anomalies and craniofacial dysmorphism.

Beleza-Meireles A, Matoso E, Ramos L, Melo JB, Carreira IM, Silva ED, Saraiva JM.

Am J Med Genet A. 2013 Mar;161A(3):589-93. doi: 10.1002/ajmg.a.35713. Epub 2013 Feb 7.

PMID:
23401163
15.

De novo triplication of the MAPT gene from the recurrent 17q21.31 microdeletion region in a patient with moderate intellectual disability and various minor anomalies.

Gregor A, Krumbiegel M, Kraus C, Reis A, Zweier C.

Am J Med Genet A. 2012 Jul;158A(7):1765-70. doi: 10.1002/ajmg.a.35427. Epub 2012 Jun 7.

PMID:
22678764
16.

A Novel 23.1 Mb Interstitial Deletion Involving 7q22.3q32.1 in a Girl with Short Stature, Motor Delay, and Craniofacial Dysmorphism.

Del Refugio Rivera-Vega M, Gómez-Del Angel LA, Valdes-Miranda JM, Pérez-Cabrera A, Gonzalez-Huerta LM, Toral-López J, Cuevas-Covarrubias S.

Cytogenet Genome Res. 2015;145(1):1-5. doi: 10.1159/000381234. Epub 2015 Apr 2.

PMID:
25870946
17.

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.

Bruno DL, Anderlid BM, Lindstrand A, van Ravenswaaij-Arts C, Ganesamoorthy D, Lundin J, Martin CL, Douglas J, Nowak C, Adam MP, Kooy RF, Van der Aa N, Reyniers E, Vandeweyer G, Stolte-Dijkstra I, Dijkhuizen T, Yeung A, Delatycki M, Borgström B, Thelin L, Cardoso C, van Bon B, Pfundt R, de Vries BB, Wallin A, Amor DJ, James PA, Slater HR, Schoumans J.

J Med Genet. 2010 May;47(5):299-311. doi: 10.1136/jmg.2009.069906.

PMID:
20452996
18.

Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene.

Avila M, Kirchhoff M, Marle N, Hove HD, Chouchane M, Thauvin-Robinet C, Masurel A, Mosca-Boidron AL, Callier P, Mugneret F, Kjaergaard S, Faivre L.

Am J Med Genet A. 2013 Jul;161A(7):1594-8. doi: 10.1002/ajmg.a.35970. Epub 2013 May 22.

PMID:
23704076
19.

Microduplication 3q13.2q13.31 identified in a male with dysmorphic features and multiple congenital anomalies.

Karavitakis E, Kitsiou-Tzeli S, Xaidara A, Kosma K, Makrythanasis P, Apazidou E, Kanavakis E, Tzetis M.

Am J Med Genet A. 2014 Mar;164A(3):666-70. doi: 10.1002/ajmg.a.36346. Epub 2013 Dec 20.

PMID:
24375959
20.

A patient with duplication (7)(p15.3p22.3) and deletion (7)(p22.3pter) characterized by array-CGH.

Geckinli BB, Aydin H, Karaman A.

Genet Couns. 2014;25(4):405-12.

PMID:
25804019

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