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Items: 1 to 20 of 26

1.

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

Riazuddin S, Hussain M, Razzaq A, Iqbal Z, Shahzad M, Polla DL, Song Y, van Beusekom E, Khan AA, Tomas-Roca L, Rashid M, Zahoor MY, Wissink-Lindhout WM, Basra MAR, Ansar M, Agha Z, van Heeswijk K, Rasheed F, Van de Vorst M, Veltman JA, Gilissen C, Akram J, Kleefstra T, Assir MZ; UK10K, Grozeva D, Carss K, Raymond FL, O'Connor TD, Riazuddin SA, Khan SN, Ahmed ZM, de Brouwer APM, van Bokhoven H, Riazuddin S.

Mol Psychiatry. 2017 Nov;22(11):1604-1614. doi: 10.1038/mp.2016.109. Epub 2016 Jul 26.

2.

A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay.

Ozantürk A, Davis EE, Sabo A, Weiss MM, Muzny D, Dugan-Perez S, Sistermans EA, Gibbs RA, Özgül KR, Yalnızoglu D, Serdaroglu E, Dursun A, Katsanis N.

Cold Spring Harb Mol Case Stud. 2016 Mar;2(2):a000703. doi: 10.1101/mcs.a000703.

3.

Cri-Du-Chat Syndrome: Clinical Profile and Chromosomal Microarray Analysis in Six Patients.

Espirito Santo LD, Moreira LM, Riegel M.

Biomed Res Int. 2016;2016:5467083. doi: 10.1155/2016/5467083. Epub 2016 Apr 7.

4.

A cryptic balanced translocation (5;17), a puzzle revealed through a critical evaluation of the pedigree and a FISH focused on candidate loci suggested by the phenotype.

Primerano A, Colao E, Villella C, Nocera MD, Ciambrone A, Luciano E, D'Antona L, Vismara MFM, Loddo S, Novelli A, Perrotti N, Malatesta P.

Mol Cytogenet. 2015 Sep 2;8:70. doi: 10.1186/s13039-015-0172-1. eCollection 2015.

5.

5p deletions: Current knowledge and future directions.

Nguyen JM, Qualmann KJ, Okashah R, Reilly A, Alexeyev MF, Campbell DJ.

Am J Med Genet C Semin Med Genet. 2015 Sep;169(3):224-38. doi: 10.1002/ajmg.c.31444. Epub 2015 Aug 3. Review.

6.

Human Structural Variation: Mechanisms of Chromosome Rearrangements.

Weckselblatt B, Rudd MK.

Trends Genet. 2015 Oct;31(10):587-99. doi: 10.1016/j.tig.2015.05.010. Epub 2015 Jul 22. Review.

7.
8.

δ-Catenin Regulates Spine Architecture via Cadherin and PDZ-dependent Interactions.

Yuan L, Seong E, Beuscher JL, Arikkath J.

J Biol Chem. 2015 Apr 24;290(17):10947-57. doi: 10.1074/jbc.M114.632679. Epub 2015 Feb 27.

9.

The clinical significance of small copy number variants in neurodevelopmental disorders.

Asadollahi R, Oneda B, Joset P, Azzarello-Burri S, Bartholdi D, Steindl K, Vincent M, Cobilanschi J, Sticht H, Baldinger R, Reissmann R, Sudholt I, Thiel CT, Ekici AB, Reis A, Bijlsma EK, Andrieux J, Dieux A, FitzPatrick D, Ritter S, Baumer A, Latal B, Plecko B, Jenni OG, Rauch A.

J Med Genet. 2014 Oct;51(10):677-88. doi: 10.1136/jmedgenet-2014-102588. Epub 2014 Aug 8.

10.

Cri du chat syndrome and primary ciliary dyskinesia: a common genetic cause on chromosome 5p.

Shapiro AJ, Weck KE, Chao KC, Rosenfeld M, Nygren AO, Knowles MR, Leigh MW, Zariwala MA.

J Pediatr. 2014 Oct;165(4):858-61. doi: 10.1016/j.jpeds.2014.06.048. Epub 2014 Jul 25.

11.

A coalescence of two syndromes in a girl with terminal deletion and inverted duplication of chromosome 5.

Krgovic D, Blatnik A, Burmas A, Zagorac A, Kokalj Vokac N.

BMC Med Genet. 2014 Feb 11;15:21. doi: 10.1186/1471-2350-15-21.

12.

De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia.

Papoulidis I, Vetro A, Kefalas K, Orru S, Thomaidis L, Iliodromiti Z, Zuffardi O, Manolakos E.

Mol Syndromol. 2013 Jun;4(5):250-4. doi: 10.1159/000351656. Epub 2013 Jun 12.

13.

Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays.

Costain G, Lionel AC, Merico D, Forsythe P, Russell K, Lowther C, Yuen T, Husted J, Stavropoulos DJ, Speevak M, Chow EW, Marshall CR, Scherer SW, Bassett AS.

Hum Mol Genet. 2013 Nov 15;22(22):4485-501. doi: 10.1093/hmg/ddt297. Epub 2013 Jun 27.

14.

Disorders caused by chromosome abnormalities.

Theisen A, Shaffer LG.

Appl Clin Genet. 2010 Dec 10;3:159-74. doi: 10.2147/TACG.S8884. Print 2010.

15.

The linear ubiquitin-specific deubiquitinase gumby regulates angiogenesis.

Rivkin E, Almeida SM, Ceccarelli DF, Juang YC, MacLean TA, Srikumar T, Huang H, Dunham WH, Fukumura R, Xie G, Gondo Y, Raught B, Gingras AC, Sicheri F, Cordes SP.

Nature. 2013 Jun 20;498(7454):318-24. doi: 10.1038/nature12296. Epub 2013 May 24.

16.

Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization.

Li P, Pomianowski P, DiMaio MS, Florio JR, Rossi MR, Xiang B, Xu F, Yang H, Geng Q, Xie J, Mahoney MJ.

Am J Med Genet A. 2011 Jul;155A(7):1605-15. doi: 10.1002/ajmg.a.34043. Epub 2011 Jun 10.

17.

Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity.

Abou Jamra R, Wohlfart S, Zweier M, Uebe S, Priebe L, Ekici A, Giesebrecht S, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Nöthen MM, Schumacher J, Reis A.

Eur J Hum Genet. 2011 Nov;19(11):1161-6. doi: 10.1038/ejhg.2011.98. Epub 2011 Jun 1.

18.

Effectively incorporating selected multimedia content into medical publications.

Ziegler A, Mietchen D, Faber C, von Hausen W, Schöbel C, Sellerer M, Ziegler A.

BMC Med. 2011 Feb 17;9:17. doi: 10.1186/1741-7015-9-17.

19.

Cri-du-Chat Syndrome Cytogenetically Cryptic Recombination Aneusomy of Chromosome 5: Implications in Recurrence Risk Estimation.

Ohnuki Y, Torii C, Kosaki R, Yagihashi T, Sago H, Hayashi K, Yasukawa K, Takahashi T, Kosaki K.

Mol Syndromol. 2010;1(2):95-98. Epub 2010 Aug 13.

20.

DNA copy number aberrations in breast cancer by array comparative genomic hybridization.

Li J, Wang K, Li S, Timmermans-Wielenga V, Rank F, Wiuf C, Zhang X, Yang H, Bolund L.

Genomics Proteomics Bioinformatics. 2009 Jun;7(1-2):13-24. doi: 10.1016/S1672-0229(08)60029-7.

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