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Items: 1 to 20 of 81

1.

CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits.

Macé A, Tuke MA, Deelen P, Kristiansson K, Mattsson H, Nõukas M, Sapkota Y, Schick U, Porcu E, Rüeger S, McDaid AF, Porteous D, Winkler TW, Salvi E, Shrine N, Liu X, Ang WQ, Zhang W, Feitosa MF, Venturini C, van der Most PJ, Rosengren A, Wood AR, Beaumont RN, Jones SE, Ruth KS, Yaghootkar H, Tyrrell J, Havulinna AS, Boers H, Mägi R, Kriebel J, Müller-Nurasyid M, Perola M, Nieminen M, Lokki ML, Kähönen M, Viikari JS, Geller F, Lahti J, Palotie A, Koponen P, Lundqvist A, Rissanen H, Bottinger EP, Afaq S, Wojczynski MK, Lenzini P, Nolte IM, Sparsø T, Schupf N, Christensen K, Perls TT, Newman AB, Werge T, Snieder H, Spector TD, Chambers JC, Koskinen S, Melbye M, Raitakari OT, Lehtimäki T, Tobin MD, Wain LV, Sinisalo J, Peters A, Meitinger T, Martin NG, Wray NR, Montgomery GW, Medland SE, Swertz MA, Vartiainen E, Borodulin K, Männistö S, Murray A, Bochud M, Jacquemont S, Rivadeneira F, Hansen TF, Oldehinkel AJ, Mangino M, Province MA, Deloukas P, Kooner JS, Freathy RM, Pennell C, Feenstra B, Strachan DP, Lettre G, Hirschhorn J, Cusi D, Heid IM, Hayward C, Männik K, Beckmann JS, Loos RJF, Nyholt DR, Metspalu A, Eriksson JG, Weedon MN, Salomaa V, Franke L, Reymond A, Frayling TM, Kutalik Z.

Nat Commun. 2017 Sep 29;8(1):744. doi: 10.1038/s41467-017-00556-x.

2.

Genomic Disorders in Psychiatry-What Does the Clinician Need to Know?

Lowther C, Costain G, Baribeau DA, Bassett AS.

Curr Psychiatry Rep. 2017 Sep 20;19(11):82. doi: 10.1007/s11920-017-0831-5. Review.

PMID:
28929285
3.

Clinical application of SNP array analysis in fetuses with ventricular septal defects and normal karyotypes.

Fu F, Deng Q, Lei TY, Li R, Jing XY, Yang X, Liao C.

Arch Gynecol Obstet. 2017 Nov;296(5):929-940. doi: 10.1007/s00404-017-4518-2. Epub 2017 Sep 13.

PMID:
28905115
4.

Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series.

Busè M, Cuttaia HC, Palazzo D, Mazara MV, Lauricella SA, Malacarne M, Pierluigi M, Cavani S, Piccione M.

Ital J Pediatr. 2017 Jul 19;43(1):61. doi: 10.1186/s13052-017-0380-x.

5.

Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways.

Pettersson M, Viljakainen H, Loid P, Mustila T, Pekkinen M, Armenio M, Andersson-Assarsson JC, Mäkitie O, Lindstrand A.

J Clin Endocrinol Metab. 2017 Aug 1;102(8):3029-3039. doi: 10.1210/jc.2017-00565.

PMID:
28605459
6.

A heterozygous microdeletion of 20p12.2-3 encompassing PROKR2 and BMP2 in a patient with congenital hypopituitarism and growth hormone deficiency.

Parsons SJH, Wright NB, Burkitt-Wright E, Skae MS, Murray PG.

Am J Med Genet A. 2017 Aug;173(8):2261-2267. doi: 10.1002/ajmg.a.38306. Epub 2017 Jun 6.

PMID:
28586151
7.

The birth of a human-specific neural gene by incomplete duplication and gene fusion.

Dougherty ML, Nuttle X, Penn O, Nelson BJ, Huddleston J, Baker C, Harshman L, Duyzend MH, Ventura M, Antonacci F, Sandstrom R, Dennis MY, Eichler EE.

Genome Biol. 2017 Mar 9;18(1):49. doi: 10.1186/s13059-017-1163-9.

8.

Clinical and molecular cytogenetic analyses of four families with 1q21.1 microdeletion or microduplication.

Wang HD, Liu L, Wu D, Li T, Cui CY, Zhang LZ, Wang CZ.

J Gene Med. 2017 Apr;19(4). doi: 10.1002/jgm.2948.

9.

Replication analyses of four chromosomal deletions with schizophrenia via independent large-scale meta-analyses.

Chang H, Li L, Peng T, Li M, Gao L, Xiao X.

Am J Med Genet B Neuropsychiatr Genet. 2016 Dec;171(8):1161-1169. doi: 10.1002/ajmg.b.32502. Epub 2016 Oct 11.

PMID:
27727512
10.

Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing.

Nicchia E, Giordano P, Greco C, De Rocco D, Savoia A.

Int J Lab Hematol. 2016 Aug;38(4):412-8. doi: 10.1111/ijlh.12516. Epub 2016 Jun 20.

PMID:
27320760
11.

Proliferation and Differentiation Deficits are a Major Convergence Point for Neurodevelopmental Disorders.

Ernst C.

Trends Neurosci. 2016 May;39(5):290-299. doi: 10.1016/j.tins.2016.03.001. Epub 2016 Mar 28. Review.

PMID:
27032601
12.

Identification of copy number variations associated with congenital heart disease by chromosomal microarray analysis and next-generation sequencing.

Zhu X, Li J, Ru T, Wang Y, Xu Y, Yang Y, Wu X, Cram DS, Hu Y.

Prenat Diagn. 2016 Apr;36(4):321-7. doi: 10.1002/pd.4782. Epub 2016 Mar 8.

PMID:
26833920
13.

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.

Sanders SJ, He X, Willsey AJ, Ercan-Sencicek AG, Samocha KE, Cicek AE, Murtha MT, Bal VH, Bishop SL, Dong S, Goldberg AP, Jinlu C, Keaney JF 3rd, Klei L, Mandell JD, Moreno-De-Luca D, Poultney CS, Robinson EB, Smith L, Solli-Nowlan T, Su MY, Teran NA, Walker MF, Werling DM, Beaudet AL, Cantor RM, Fombonne E, Geschwind DH, Grice DE, Lord C, Lowe JK, Mane SM, Martin DM, Morrow EM, Talkowski ME, Sutcliffe JS, Walsh CA, Yu TW; Autism Sequencing Consortium, Ledbetter DH, Martin CL, Cook EH, Buxbaum JD, Daly MJ, Devlin B, Roeder K, State MW.

Neuron. 2015 Sep 23;87(6):1215-1233. doi: 10.1016/j.neuron.2015.09.016.

14.

Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities.

Van Dijck A, van der Werf IM, Reyniers E, Scheers S, Azage M, Siefkas K, Van der Aa N, Lacroix A, Rosenfeld J, Argiropoulos B, Davis K, Innes AM, Mefford HC, Mortier G, Meuwissen M, Kooy RF.

Eur J Med Genet. 2015 Oct;58(10):503-8. doi: 10.1016/j.ejmg.2015.08.004. Epub 2015 Aug 29.

PMID:
26327614
15.

An assessment of sex bias in neurodevelopmental disorders.

Polyak A, Rosenfeld JA, Girirajan S.

Genome Med. 2015 Aug 27;7:94. doi: 10.1186/s13073-015-0216-5.

16.

CNVs in neuropsychiatric disorders.

Kirov G.

Hum Mol Genet. 2015 Oct 15;24(R1):R45-9. doi: 10.1093/hmg/ddv253. Epub 2015 Jun 30. Review.

PMID:
26130694
17.

A CGH array study in nonsyndromic (primary) autism patients: deletions on 16p13.11, 16p11.2, 1q21.1, 2q21.1q21.2, and 8p23.1.

Gümüşlü KE, Savli H, Sünnetçi D, Çine N, Kara B, Eren Keskin S, Akkoyunlu RU.

Turk J Med Sci. 2015;45(2):313-9.

PMID:
26084120
18.

Clinical phenotype of the recurrent 1q21.1 copy-number variant.

Bernier R, Steinman KJ, Reilly B, Wallace AS, Sherr EH, Pojman N, Mefford HC, Gerdts J, Earl R, Hanson E, Goin-Kochel RP, Berry L, Kanne S, Snyder LG, Spence S, Ramocki MB, Evans DW, Spiro JE, Martin CL, Ledbetter DH, Chung WK; Simons VIP consortium.

Genet Med. 2016 Apr;18(4):341-9. doi: 10.1038/gim.2015.78. Epub 2015 Jun 11.

PMID:
26066539
19.

Rbm8a haploinsufficiency disrupts embryonic cortical development resulting in microcephaly.

Mao H, Pilaz LJ, McMahon JJ, Golzio C, Wu D, Shi L, Katsanis N, Silver DL.

J Neurosci. 2015 May 6;35(18):7003-18. doi: 10.1523/JNEUROSCI.0018-15.2015.

20.

Concurrent exome-targeted next-generation sequencing and single nucleotide polymorphism array to identify the causative genetic aberrations of isolated Mayer-Rokitansky-Küster-Hauser syndrome.

Chen MJ, Wei SY, Yang WS, Wu TT, Li HY, Ho HN, Yang YS, Chen PL.

Hum Reprod. 2015 Jul;30(7):1732-42. doi: 10.1093/humrep/dev095. Epub 2015 Apr 29.

PMID:
25924657

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