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Items: 1 to 20 of 164

1.

A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation.

Chinen Y, Nakamura S, Kaneshi T, Nakayashiro M, Yanagi K, Kaname T, Naritomi K, Nakanishi K.

Hum Genome Var. 2019 May 13;6:23. doi: 10.1038/s41439-019-0053-y. eCollection 2019.

2.

Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy.

Balciuniene J, DeChene ET, Akgumus G, Romasko EJ, Cao K, Dubbs HA, Mulchandani S, Spinner NB, Conlin LK, Marsh ED, Goldberg E, Helbig I, Sarmady M, Abou Tayoun A.

JAMA Netw Open. 2019 Apr 5;2(4):e192129. doi: 10.1001/jamanetworkopen.2019.2129.

3.

First evidence of a paediatric patient with Cornelia de Lange syndrome with acute lymphoblastic leukaemia.

Fazio G, Massa V, Grioni A, Bystry V, Rigamonti S, Saitta C, Galbiati M, Rizzari C, Consarino C, Biondi A, Selicorni A, Cazzaniga G.

J Clin Pathol. 2019 Apr 4. pii: jclinpath-2019-205707. doi: 10.1136/jclinpath-2019-205707. [Epub ahead of print]

PMID:
30948435
4.

Overexpression of the cohesin-core subunit SMC1A contributes to colorectal cancer development.

Sarogni P, Palumbo O, Servadio A, Astigiano S, D'Alessio B, Gatti V, Cukrov D, Baldari S, Pallotta MM, Aretini P, Dell'Orletta F, Soddu S, Carella M, Toietta G, Barbieri O, Fontanini G, Musio A.

J Exp Clin Cancer Res. 2019 Mar 1;38(1):108. doi: 10.1186/s13046-019-1116-0.

5.

A De novo HDAC2 variant in a patient with features consistent with Cornelia de Lange syndrome phenotype.

Wagner VF, Hillman PR, Britt AD, Ray JW, Farach LS.

Am J Med Genet A. 2019 May;179(5):852-856. doi: 10.1002/ajmg.a.61101. Epub 2019 Feb 25.

PMID:
30806031
6.

NIPBL: a new player in myeloid cells differentiation.

Mazzola M, Deflorian G, Pezzotta A, Ferrari L, Fazio G, Bresciani E, Saitta C, Ferrari L, Fumagalli M, Parma M, Marasca F, Bodega B, Riva P, Cotelli F, Biondi A, Marozzi A, Cazzaniga G, Pistocchi A.

Haematologica. 2019 Jan 10. pii: haematol.2018.200899. doi: 10.3324/haematol.2018.200899. [Epub ahead of print]

7.

Cornelia de Lange syndrome in diverse populations.

Dowsett L, Porras AR, Kruszka P, Davis B, Hu T, Honey E, Badoe E, Thong MK, Leon E, Girisha KM, Shukla A, Nayak SS, Shotelersuk V, Megarbane A, Phadke S, Sirisena ND, Dissanayake VHW, Ferreira CR, Kisling MS, Tanpaiboon P, Uwineza A, Mutesa L, Tekendo-Ngongang C, Wonkam A, Fieggen K, Batista LC, Moretti-Ferreira D, Stevenson RE, Prijoles EJ, Everman D, Clarkson K, Worthington J, Kimonis V, Hisama F, Crowe C, Wong P, Johnson K, Clark RD, Bird L, Masser-Frye D, McDonald M, Willems P, Roeder E, Saitta S, Anyane-Yeoba K, Demmer L, Hamajima N, Stark Z, Gillies G, Hudgins L, Dave U, Shalev S, Siu V, Ades A, Dubbs H, Raible S, Kaur M, Salzano E, Jackson L, Deardorff M, Kline A, Summar M, Muenke M, Linguraru MG, Krantz ID.

Am J Med Genet A. 2019 Feb;179(2):150-158. doi: 10.1002/ajmg.a.61033. Epub 2019 Jan 6.

PMID:
30614194
8.

Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients.

Krawczynska N, Wierzba J, Jasiecki J, Wasag B.

BMC Med Genet. 2019 Jan 3;20(1):1. doi: 10.1186/s12881-018-0738-y.

9.

Cornelia De Lange Syndrome In A 4-Year-Old Child From India: Phenotype Description And Role Of Genetic Counseling.

Meshram GG, Kaur N, Hura KS.

Med Arch. 2018 Oct;72(4):297-299. doi: 10.5455/medarh.2018.72.297-299.

10.

Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males.

Mullegama SV, Klein SD, Signer RH; UCLA Clinical Genomics Center, Vilain E, Martinez-Agosto JA.

Mol Genet Genomic Med. 2019 Feb;7(2):e00501. doi: 10.1002/mgg3.501. Epub 2018 Nov 16.

11.

Development, behaviour and autism in individuals with SMC1A variants.

Mulder PA, Huisman S, Landlust AM, Moss J; SMC1A Consortium, Piening S, Hennekam RC, van Balkom IDC.

J Child Psychol Psychiatry. 2019 Mar;60(3):305-313. doi: 10.1111/jcpp.12979. Epub 2018 Oct 8.

PMID:
30295920
12.

Long noncoding RNA NEAT1 modulates cell proliferation and apoptosis by regulating miR-23a-3p/SMC1A in acute myeloid leukemia.

Zhao C, Wang S, Zhao Y, Du F, Wang W, Lv P, Qi L.

J Cell Physiol. 2019 May;234(5):6161-6172. doi: 10.1002/jcp.27393. Epub 2018 Sep 24.

PMID:
30246348
13.

SMC1A is associated with radioresistance in prostate cancer and acts by regulating epithelial-mesenchymal transition and cancer stem-like properties.

Yadav S, Kowolik CM, Lin M, Zuro D, Hui SK, Riggs AD, Horne DA.

Mol Carcinog. 2019 Jan;58(1):113-125. doi: 10.1002/mc.22913. Epub 2018 Oct 5.

PMID:
30242889
14.

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.

Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, Baple EL, Dean J, Fong CT, Hickey SE, Hudgins L, Leon E, Madan-Khetarpal S, Rawlins L, Rustad CF, Stray-Pedersen A, Tveten K, Wenger O, Diaz J, Jenkins L, Martin L, McGuire M, Pietryga M, Ramsdell L, Slattery L; DDD Study, Abid F, Bertuch AA, Grange D, Immken L, Schaaf CP, Van Esch H, Bi W, Cheung SW, Breman AM, Smith JL, Shaw C, Crosby AH, Eng C, Yang Y, Lupski JR, Xiao R, Liu P.

Genet Med. 2019 Mar;21(3):663-675. doi: 10.1038/s41436-018-0085-6. Epub 2018 Aug 30.

15.

A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

Gudmundsson S, Annerén G, Marcos-Alcalde Í, Wilbe M, Melin M, Gómez-Puertas P, Bondeson ML.

Eur J Med Genet. 2018 Aug 17. pii: S1769-7212(18)30189-7. doi: 10.1016/j.ejmg.2018.08.007. [Epub ahead of print]

PMID:
30125677
16.

[Analysis of NIPBL gene mutation in a patient with Cornelia de Lange syndrome].

Mei J, Wang M, Wang X, Yao J.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Aug 10;35(4):557-560. doi: 10.3760/cma.j.issn.1003-9406.2018.04.022. Chinese.

PMID:
30098256
17.

[Analysis of clinical manifestation and genetic mutations in two patients with Cornelia de Lange syndrome].

Miao Y, Zhu Y, Zhang Q, Guo H, Zhao Y, Cheng L, Han L, Ning Y, Pan Q.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Aug 10;35(4):493-497. doi: 10.3760/cma.j.issn.1003-9406.2018.04.007. Chinese.

PMID:
30098241
18.

Phosphorylation of SMC1A promotes hepatocellular carcinoma cell proliferation and migration.

Zhang Y, Yi F, Wang L, Wang Z, Zhang N, Wang Z, Li Z, Song X, Wei S, Cao L.

Int J Biol Sci. 2018 Jun 8;14(9):1081-1089. doi: 10.7150/ijbs.24692. eCollection 2018.

19.

The suppression of DUSP5 expression correlates with paclitaxel resistance and poor prognosis in basal-like breast cancer.

Liu T, Sun H, Liu S, Yang Z, Li L, Yao N, Cheng S, Dong X, Liang X, Chen C, Wang Y, Zhao X.

Int J Med Sci. 2018 May 16;15(7):738-747. doi: 10.7150/ijms.24981. eCollection 2018.

20.

Antioxidant treatment ameliorates phenotypic features of SMC1A-mutated Cornelia de Lange syndrome in vitro and in vivo.

Cukrov D, Newman TAC, Leask M, Leeke B, Sarogni P, Patimo A, Kline AD, Krantz ID, Horsfield JA, Musio A.

Hum Mol Genet. 2018 Sep 1;27(17):3002-3011. doi: 10.1093/hmg/ddy203.

PMID:
29860495

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