Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 18

1.

Complex Mosaic Ring Chromosome 11 Associated with Hemizygous Loss of 8.6 Mb of 11q24.2qter in Atypical Jacobsen Syndrome.

Galvão Gomes A, Paiva Grangeiro CH, Silva LR, Oliveira-Gennaro FG, Pereira CS, Joaquim TM, Panepucci RA, Squire JA, Martelli L.

Mol Syndromol. 2017 Jan;8(1):45-49. doi: 10.1159/000452681. Epub 2016 Nov 17.

2.

Primary immunodeficiency associated with chromosomal aberration - an ESID survey.

Schatorjé E, van der Flier M, Seppänen M, Browning M, Morsheimer M, Henriet S, Neves JF, Vinh DC, Alsina L, Grumach A, Soler-Palacin P, Boyce T, Celmeli F, Goudouris E, Hayman G, Herriot R, Förster-Waldl E, Seidel M, Simons A, de Vries E.

Orphanet J Rare Dis. 2016 Aug 2;11(1):110. doi: 10.1186/s13023-016-0492-1.

3.

Cytogenomic Aberrations in Congenital Cardiovascular Malformations.

Azamian M, Lalani SR.

Mol Syndromol. 2016 May;7(2):51-61. doi: 10.1159/000445788. Epub 2016 Apr 26. Review.

4.

de novo interstitial deletions at the 11q23.3-q24.2 region.

Su J, Chen R, Luo J, Fan X, Fu C, Wang J, He S, Hu X, Zhang S, Yi S, Chen S, Shen Y.

Mol Cytogenet. 2016 May 5;9:39. doi: 10.1186/s13039-016-0247-7. eCollection 2016.

5.

Jacobsen Syndrome: Surgical Complications due to Unsuspected Diagnosis, the Importance of Molecular Studies in Patients with Craniosynostosis.

Linares Chávez EP, Toral López J, Valdés Miranda JM, González Huerta LM, Perez Cabrera A, Del Refugio Rivera Vega M, Messina Baas OM, Cuevas-Covarrubias SA.

Mol Syndromol. 2016 Feb;6(5):229-35. doi: 10.1159/000442477. Epub 2015 Dec 18.

6.

PX-RICS-deficient mice mimic autism spectrum disorder in Jacobsen syndrome through impaired GABAA receptor trafficking.

Nakamura T, Arima-Yoshida F, Sakaue F, Nasu-Nishimura Y, Takeda Y, Matsuura K, Akshoomoff N, Mattson SN, Grossfeld PD, Manabe T, Akiyama T.

Nat Commun. 2016 Mar 16;7:10861. doi: 10.1038/ncomms10861.

7.

Linkage between the mechanisms of thrombocytopenia and thrombopoiesis.

Eto K, Kunishima S.

Blood. 2016 Mar 10;127(10):1234-41. doi: 10.1182/blood-2015-07-607903. Epub 2016 Jan 19. Review.

8.

Endocrine abnormalities in ring chromosome 11: a case report and review of the literature.

Lange R, Von Linsingen C, Mata F, Moraes AB, Arruda M, Vieira Neto L.

Endocrinol Diabetes Metab Case Rep. 2015;2015:150085. doi: 10.1530/EDM-15-0085. Epub 2015 Oct 15.

9.

The 11q Terminal Deletion Disorder Jacobsen Syndrome is a Syndromic Primary Immunodeficiency.

Dalm VA, Driessen GJ, Barendregt BH, van Hagen PM, van der Burg M.

J Clin Immunol. 2015 Nov;35(8):761-8. doi: 10.1007/s10875-015-0211-z. Epub 2015 Nov 14.

10.

Interstitial deletion at 11q14.2-11q22.1 may cause severe learning difficulties, mental retardation and mild heart defects in 13-year old male.

Papoulidis I, Paspaliaris V, Siomou E, Orru S, Murru R, Sifakis S, Nikolaidis P, Garas A, Sotiriou S, Thomaidis L, Manolakos E.

Mol Cytogenet. 2015 Sep 17;8:71. doi: 10.1186/s13039-015-0175-y. eCollection 2015.

11.

CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes.

Landis BJ, Cooper DS, Hinton RB.

Cardiol Young. 2016 Jan;26(1):30-52. doi: 10.1017/S1047951115001389. Epub 2015 Sep 8. Review.

12.

Clinical and molecular evaluations of siblings with "pure" 11q23.3-qter trisomy or reciprocal monosomy due to a familial translocation t (10;11) (q26;q23.3).

Chen R, Li C, Xie B, Wang J, Fan X, Luo J, Hu X, Chen S, Shen Y.

Mol Cytogenet. 2014 Dec 24;7(1):101. doi: 10.1186/s13039-014-0101-8. eCollection 2014.

13.

Rare copy number variants contribute to congenital left-sided heart disease.

Hitz MP, Lemieux-Perreault LP, Marshall C, Feroz-Zada Y, Davies R, Yang SW, Lionel AC, D'Amours G, Lemyre E, Cullum R, Bigras JL, Thibeault M, Chetaille P, Montpetit A, Khairy P, Overduin B, Klaassen S, Hoodless P, Awadalla P, Hussin J, Idaghdour Y, Nemer M, Stewart AF, Boerkoel C, Scherer SW, Richter A, Dubé MP, Andelfinger G.

PLoS Genet. 2012 Sep;8(9):e1002903. doi: 10.1371/journal.pgen.1002903. Epub 2012 Sep 6. Erratum in: PLoS Genet. 2013 Mar;9(3). doi: 10.1371/annotation/8bc63544-9ed4-42ca-a830-e8058ab13bab. Awadalla, Philip [added]; Hussin, Julie [added]; Idaghdour, Youssef [added].

14.

Chromosome abnormalities in Indonesian patients with short stature.

Paramayuda C, Kartapradja H, Ambarwati DD, Anggaratri HW, Suciati LP, Marzuki NS, Harahap A.

Mol Cytogenet. 2012 Aug 6;5(1):35. doi: 10.1186/1755-8166-5-35.

15.

New Genetic Insights into Congenital Heart Disease.

Ware SM, Jefferies JL.

J Clin Exp Cardiolog. 2012 Jun 15;S8. pii: 003.

16.

Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype.

Wischmeijer A, Magini P, Giorda R, Gnoli M, Ciccone R, Cecconi L, Franzoni E, Mazzanti L, Romeo G, Zuffardi O, Seri M.

Mol Syndromol. 2011 Jan;1(4):176-184. Epub 2010 Nov 25.

17.

Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia.

Wang LS, Hranilovic D, Wang K, Lindquist IE, Yurcaba L, Petkovic ZB, Gidaya N, Jernej B, Hakonarson H, Bucan M.

BMC Med Genet. 2010 Sep 21;11:134. doi: 10.1186/1471-2350-11-134.

18.

Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome).

Manolakos E, Orru S, Neroutsou R, Kefalas K, Louizou E, Papoulidis I, Thomaidis L, Peitsidis P, Sotiriou S, Kitsos G, Tsoplou P, Petersen MB, Metaxotou A.

Mol Cytogenet. 2009 Dec 9;2:26. doi: 10.1186/1755-8166-2-26.

Supplemental Content

Support Center