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Items: 1 to 20 of 918

1.

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.

Kline AD, Moss JF, Selicorni A, Bisgaard AM, Deardorff MA, Gillett PM, Ishman SL, Kerr LM, Levin AV, Mulder PA, Ramos FJ, Wierzba J, Ajmone PF, Axtell D, Blagowidow N, Cereda A, Costantino A, Cormier-Daire V, FitzPatrick D, Grados M, Groves L, Guthrie W, Huisman S, Kaiser FJ, Koekkoek G, Levis M, Mariani M, McCleery JP, Menke LA, Metrena A, O'Connor J, Oliver C, Pie J, Piening S, Potter CJ, Quaglio AL, Redeker E, Richman D, Rigamonti C, Shi A, Tümer Z, Van Balkom IDC, Hennekam RC.

Nat Rev Genet. 2018 Jul 11. doi: 10.1038/s41576-018-0031-0. [Epub ahead of print] Review.

PMID:
29995837
2.

A Functional Mutation in HDAC8 Gene as Novel Diagnostic Marker for Cornelia De Lange Syndrome.

Gao X, Huang Z, Fan Y, Sun Y, Liu H, Wang L, Gu XF, Yu Y.

Cell Physiol Biochem. 2018 Jul 10;47(6):2388-2395. doi: 10.1159/000491613. [Epub ahead of print]

3.

A systematic review of the management and outcomes of cecal and appendiceal volvulus in children.

Miura da Costa K, Saxena AK.

Acta Paediatr. 2018 Jun 27. doi: 10.1111/apa.14476. [Epub ahead of print] Review.

PMID:
29949184
4.

Mother's obesity and high child's waist circumference are predictive factors of severe child's obesity: an observational study in French Guiana.

Njuieyon F, Cuadro-Alvarez E, Martin E, Lachaume N, Mrsic Y, Henaff F, Maniassom C, Defo A, Elenga N.

BMC Pediatr. 2018 Jun 9;18(1):188. doi: 10.1186/s12887-018-1158-z.

5.

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

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

Hum Mol Genet. 2018 May 30. doi: 10.1093/hmg/ddy203. [Epub ahead of print]

PMID:
29860495
6.

An Analysis of Pediatric Scar Progression Over Time.

Slavin B, Torres R, Fischer AC.

Eplasty. 2018 Apr 27;18:e18. eCollection 2018.

7.

[NIPBL gene mutations in two children with Cornelia de Lange syndrome].

Zhao YJ, Ma HW.

Zhongguo Dang Dai Er Ke Za Zhi. 2018 May;20(5):387-391. Chinese.

8.

Bohring-Opitz syndrome caused by an ASXL1 mutation inherited from a germline mosaic mother.

Bedoukian E, Copenheaver D, Bale S, Deardorff M.

Am J Med Genet A. 2018 May;176(5):1249-1252. doi: 10.1002/ajmg.a.38686.

PMID:
29681100
9.

Mental Health and Well-Being in Mothers of Children With Rare Genetic Syndromes Showing Chronic Challenging Behavior: A Cross-Sectional and Longitudinal Study.

Adams D, Clarke S, Griffith G, Howlin P, Moss J, Petty J, Tunnicliffe P, Oliver C.

Am J Intellect Dev Disabil. 2018 May;123(3):241-253. doi: 10.1352/1944-7558-123.3.241.

PMID:
29671635
10.

Endometrial Carcinoma With an Unusual Morphology in a Patient With Cornelia de Lange Syndrome: A Case Study.

Tate K, Yoshida H, Ishikawa M, Shimizu H, Uehara T, Kato T.

Int J Gynecol Pathol. 2018 Apr 3. doi: 10.1097/PGP.0000000000000504. [Epub ahead of print]

PMID:
29620584
11.

Attenuated behaviour in Cornelia de Lange and fragile X syndromes.

Bell L, Oliver C, Wittkowski A, Moss J, Hare D.

J Intellect Disabil Res. 2018 Jun;62(6):486-495. doi: 10.1111/jir.12481. Epub 2018 Mar 13.

PMID:
29536582
12.

A Novel Frameshift Mutation (c.5387_5388insTT) in NIPBL in Cornelia de Lange Syndrome with Severe Phenotype.

Kang MJ, Ahn SM, Hwang IT.

Ann Clin Lab Sci. 2018 Jan;48(1):106-109.

PMID:
29531005
13.

De novo HDAC8 mutation causes Rett-related disorder with distinctive facial features and multiple congenital anomalies.

Saikusa T, Hara M, Iwama K, Yuge K, Ohba C, Okada JI, Hisano T, Yamashita Y, Okamoto N, Saitsu H, Matsumoto N, Matsuishi T.

Brain Dev. 2018 May;40(5):406-409. doi: 10.1016/j.braindev.2017.12.013. Epub 2018 Mar 5.

PMID:
29519750
14.

Obstructive Sleep Apnea in a Patient with Cornelia de Lange Syndrome.

Mashaqi S, Hennessy J, Eaton M, Erickson J.

Cureus. 2017 Dec 28;9(12):e1993. doi: 10.7759/cureus.1993.

15.

Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome.

Hei M, Gao X, Wu L.

BMC Pediatr. 2018 Feb 16;18(1):64. doi: 10.1186/s12887-018-1004-3.

16.

Rings and Bricks: Expression of Cohesin Components is Dynamic during Development and Adult Life.

Bettini LR, Graziola F, Fazio G, Grazioli P, Scagliotti V, Pasquini M, Cazzaniga G, Biondi A, Larizza L, Selicorni A, Gaston-Massuet C, Massa V.

Int J Mol Sci. 2018 Feb 1;19(2). pii: E438. doi: 10.3390/ijms19020438.

17.

BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome.

Olley G, Ansari M, Bengani H, Grimes GR, Rhodes J, von Kriegsheim A, Blatnik A, Stewart FJ, Wakeling E, Carroll N, Ross A, Park SM, Bickmore WA, Pradeepa MM, FitzPatrick DR; Deciphering Developmental Disorders Study.

Nat Genet. 2018 Mar;50(3):329-332. doi: 10.1038/s41588-018-0042-y. Epub 2018 Jan 29. Erratum in: Nat Genet. 2018 Feb 12;:.

PMID:
29379197
18.

NIPBL+/- haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states.

Mills JA, Herrera PS, Kaur M, Leo L, McEldrew D, Tintos-Hernandez JA, Rajagopalan R, Gagne A, Zhang Z, Ortiz-Gonzalez XR, Krantz ID.

Sci Rep. 2018 Jan 18;8(1):1056. doi: 10.1038/s41598-018-19173-9.

19.

Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome.

Helgeson M, Keller-Ramey J, Knight Johnson A, Lee JA, Magner DB, Deml B, Deml J, Hu YY, Li Z, Donato K, Das S, Laframboise R, Tremblay S, Krantz I, Noon S, Hoganson G, Burton J, Schaaf CP, Del Gaudio D.

J Hum Genet. 2018 Mar;63(3):349-356. doi: 10.1038/s10038-017-0387-6. Epub 2017 Dec 26.

PMID:
29279609
20.

Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer element.

Zuin J, Casa V, Pozojevic J, Kolovos P, van den Hout MCGN, van Ijcken WFJ, Parenti I, Braunholz D, Baron Y, Watrin E, Kaiser FJ, Wendt KS.

PLoS Genet. 2017 Dec 20;13(12):e1007137. doi: 10.1371/journal.pgen.1007137. eCollection 2017 Dec.

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