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Items: 1 to 20 of 121

1.

Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition.

Arbogast T, Iacono G, Chevalier C, Afinowi NO, Houbaert X, van Eede MC, Laliberte C, Birling MC, Linda K, Meziane H, Selloum M, Sorg T, Nadif Kasri N, Koolen DA, Stunnenberg HG, Henkelman RM, Kopanitsa M, Humeau Y, De Vries BBA, Herault Y.

PLoS Genet. 2017 Jul 13;13(7):e1006886. doi: 10.1371/journal.pgen.1006886. eCollection 2017 Jul.

2.

Molecular Characterization of Koolen De Vries Syndrome in Two Girls with Idiopathic Intellectual Disability from Central Brazil.

Nascimento GR, Pinto IP, de Melo AV, da Cruz DM, Ribeiro CL, da Silva CC, da Cruz AD, Minasi LB.

Mol Syndromol. 2017 May;8(3):155-160. doi: 10.1159/000456910. Epub 2017 Feb 24.

3.

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.

Pfundt R, Del Rosario M, Vissers LELM, Kwint MP, Janssen IM, de Leeuw N, Yntema HG, Nelen MR, Lugtenberg D, Kamsteeg EJ, Wieskamp N, Stegmann APA, Stevens SJC, Rodenburg RJT, Simons A, Mensenkamp AR, Rinne T, Gilissen C, Scheffer H, Veltman JA Prof Dr, Hehir-Kwa JY.

Genet Med. 2017 Jun;19(6):667-675. doi: 10.1038/gim.2016.163. Epub 2016 Oct 27.

4.

Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies.

Rosenfeld JA, Patel A.

J Pediatr Genet. 2017 Mar;6(1):42-50. doi: 10.1055/s-0036-1584306. Epub 2016 May 30. Review.

PMID:
28180026
5.

Discovery of large genomic inversions using long range information.

Eslami Rasekh M, Chiatante G, Miroballo M, Tang J, Ventura M, Amemiya CT, Eichler EE, Antonacci F, Alkan C.

BMC Genomics. 2017 Jan 10;18(1):65. doi: 10.1186/s12864-016-3444-1.

6.

Human adaptation and evolution by segmental duplication.

Dennis MY, Eichler EE.

Curr Opin Genet Dev. 2016 Dec;41:44-52. doi: 10.1016/j.gde.2016.08.001. Epub 2016 Aug 30. Review.

PMID:
27584858
7.

Characterizing polymorphic inversions in human genomes by single-cell sequencing.

Sanders AD, Hills M, Porubský D, Guryev V, Falconer E, Lansdorp PM.

Genome Res. 2016 Nov;26(11):1575-1587. Epub 2016 Jul 29.

8.

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.

9.

CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens.

Wang B, Ji T, Zhou X, Wang J, Wang X, Wang J, Zhu D, Zhang X, Sham PC, Zhang X, Ma X, Jiang Y.

Sci Rep. 2016 Jun 3;6:25954. doi: 10.1038/srep25954.

10.

Mechanisms underlying structural variant formation in genomic disorders.

Carvalho CM, Lupski JR.

Nat Rev Genet. 2016 Apr;17(4):224-38. doi: 10.1038/nrg.2015.25. Epub 2016 Feb 29. Review.

11.

Developmental neurogenetics and multimodal neuroimaging of sex differences in autism.

Chen C, Van Horn JD; GENDAAR Research Consortium.

Brain Imaging Behav. 2017 Feb;11(1):38-61. doi: 10.1007/s11682-015-9504-3.

PMID:
26781567
12.

Double, Double Toil and Trouble.

Poot M.

Mol Syndromol. 2015 Sep;6(3):106-7. doi: 10.1159/000437009. Epub 2015 Jul 21. No abstract available.

13.

Frontotemporal lobar degeneration: old knowledge and new insight into the pathogenetic mechanisms of tau mutations.

Rossi G, Tagliavini F.

Front Aging Neurosci. 2015 Oct 14;7:192. doi: 10.3389/fnagi.2015.00192. eCollection 2015. Review.

14.

Genetic variation and the de novo assembly of human genomes.

Chaisson MJ, Wilson RK, Eichler EE.

Nat Rev Genet. 2015 Nov;16(11):627-40. doi: 10.1038/nrg3933. Epub 2015 Oct 7. Review.

15.

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

Koolen DA, Pfundt R, Linda K, Beunders G, Veenstra-Knol HE, Conta JH, Fortuna AM, Gillessen-Kaesbach G, Dugan S, Halbach S, Abdul-Rahman OA, Winesett HM, Chung WK, Dalton M, Dimova PS, Mattina T, Prescott K, Zhang HZ, Saal HM, Hehir-Kwa JY, Willemsen MH, Ockeloen CW, Jongmans MC, Van der Aa N, Failla P, Barone C, Avola E, Brooks AS, Kant SG, Gerkes EH, Firth HV, Õunap K, Bird LM, Masser-Frye D, Friedman JR, Sokunbi MA, Dixit A, Splitt M; DDD Study, Kukolich MK, McGaughran J, Coe BP, Flórez J, Nadif Kasri N, Brunner HG, Thompson EM, Gecz J, Romano C, Eichler EE, de Vries BB.

Eur J Hum Genet. 2016 May;24(5):652-9. doi: 10.1038/ejhg.2015.178. Epub 2015 Aug 26.

16.

Human inversions and their functional consequences.

Puig M, Casillas S, Villatoro S, Cáceres M.

Brief Funct Genomics. 2015 Sep;14(5):369-79. doi: 10.1093/bfgp/elv020. Epub 2015 May 20. Review.

17.

Genomic Variation: Lessons Learned from Whole-Genome CNV Analysis.

Riggs ER, Ledbetter DH, Martin CL.

Curr Genet Med Rep. 2014 Jul 18;2:146-150. eCollection 2014. Review.

18.

Synapse assembly and neurodevelopmental disorders.

Washbourne P.

Neuropsychopharmacology. 2015 Jan;40(1):4-15. doi: 10.1038/npp.2014.163. Epub 2014 Jul 3. Review.

19.

Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.

Carvalho CM, Zuccherato LW, Williams CL, Neill NJ, Murdock DR, Bainbridge M, Jhangiani SN, Muzny DM, Gibbs RA, Ip W, Guillerman RP, Lupski JR, Bertuch AA.

BMC Med Genet. 2014 Jun 4;15:64. doi: 10.1186/1471-2350-15-64.

20.

Validation and genotyping of multiple human polymorphic inversions mediated by inverted repeats reveals a high degree of recurrence.

Aguado C, Gayà-Vidal M, Villatoro S, Oliva M, Izquierdo D, Giner-Delgado C, Montalvo V, García-González J, Martínez-Fundichely A, Capilla L, Ruiz-Herrera A, Estivill X, Puig M, Cáceres M.

PLoS Genet. 2014 Mar 20;10(3):e1004208. doi: 10.1371/journal.pgen.1004208. eCollection 2014 Mar.

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