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Items: 16

1.

Schinzel-Giedion syndrome: a case with sacrococcygeal teratoma and cor-triatriatum dexter.

Anyanwu LJ, Mohammad A, Muhammad H, Aliyu I, Abdullahi L, Farinyaro A, Iya A.

Pan Afr Med J. 2017 Jan 23;26:30. doi: 10.11604/pamj.2017.26.30.11525. eCollection 2017. French. No abstract available.

PMID:
28451008
Free PMC Article
2.

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.

Acuna-Hidalgo R, Deriziotis P, Steehouwer M, Gilissen C, Graham SA, van Dam S, Hoover-Fong J, Telegrafi AB, Destree A, Smigiel R, Lambie LA, Kayserili H, Altunoglu U, Lapi E, Uzielli ML, Aracena M, Nur BG, Mihci E, Moreira LM, Borges Ferreira V, Horovitz DD, da Rocha KM, Jezela-Stanek A, Brooks AS, Reutter H, Cohen JS, Fatemi A, Smitka M, Grebe TA, Di Donato N, Deshpande C, Vandersteen A, Marques Lourenço C, Dufke A, Rossier E, Andre G, Baumer A, Spencer C, McGaughran J, Franke L, Veltman JA, De Vries BB, Schinzel A, Fisher SE, Hoischen A, van Bon BW.

PLoS Genet. 2017 Mar 27;13(3):e1006683. doi: 10.1371/journal.pgen.1006683. eCollection 2017 Mar.

3.

Prognostic significance of SETBP1 mutations in myelodysplastic syndromes, chronic myelomonocytic leukemia, and chronic neutrophilic leukemia: A meta-analysis.

Shou LH, Cao D, Dong XH, Fang Q, Wu Y, Zhang Y, Fei JP, Xu BL.

PLoS One. 2017 Feb 3;12(2):e0171608. doi: 10.1371/journal.pone.0171608. eCollection 2017.

4.

Genetic and prenatal findings in two Japanese patients with Schinzel-Giedion syndrome.

Hishimura N, Watari M, Ohata H, Fuseya N, Wakiguchi S, Tokutomi T, Okuhara K, Takahashi N, Iizuka S, Yamamoto H, Mishima T, Fujieda S, Kobayashi R, Cho K, Kuroda Y, Kurosawa K, Tonoki H.

Clin Case Rep. 2016 Nov 17;5(1):5-8. doi: 10.1002/ccr3.738. eCollection 2017 Jan.

5.

High-throughput discovery of novel developmental phenotypes.

Dickinson ME, Flenniken AM, Ji X, Teboul L, Wong MD, White JK, Meehan TF, Weninger WJ, Westerberg H, Adissu H, Baker CN, Bower L, Brown JM, Caddle LB, Chiani F, Clary D, Cleak J, Daly MJ, Denegre JM, Doe B, Dolan ME, Edie SM, Fuchs H, Gailus-Durner V, Galli A, Gambadoro A, Gallegos J, Guo S, Horner NR, Hsu CW, Johnson SJ, Kalaga S, Keith LC, Lanoue L, Lawson TN, Lek M, Mark M, Marschall S, Mason J, McElwee ML, Newbigging S, Nutter LM, Peterson KA, Ramirez-Solis R, Rowland DJ, Ryder E, Samocha KE, Seavitt JR, Selloum M, Szoke-Kovacs Z, Tamura M, Trainor AG, Tudose I, Wakana S, Warren J, Wendling O, West DB, Wong L, Yoshiki A; International Mouse Phenotyping Consortium; Jackson Laboratory; Infrastructure Nationale PHENOMIN, Institut Clinique de la Souris (ICS); Charles River Laboratories; MRC Harwell; Toronto Centre for Phenogenomics; Wellcome Trust Sanger Institute; RIKEN BioResource Center, MacArthur DG, Tocchini-Valentini GP, Gao X, Flicek P, Bradley A, Skarnes WC, Justice MJ, Parkinson HE, Moore M, Wells S, Braun RE, Svenson KL, de Angelis MH, Herault Y, Mohun T, Mallon AM, Henkelman RM, Brown SD, Adams DJ, Lloyd KC, McKerlie C, Beaudet AL, Bućan M, Murray SA.

Nature. 2016 Sep 22;537(7621):508-514. doi: 10.1038/nature19356. Epub 2016 Sep 14.

6.

Clonality of neutrophilia associated with plasma cell neoplasms: report of a SETBP1 mutation and analysis of a single institution series.

Stevens B, Maxson J, Tyner J, Smith CA, Gutman JA, Robinson W, Jordan CT, Lee CK, Swisshelm K, Tobin J, Wei Q, Schowinsky J, Rinella S, Lee HG, Pollyea DA.

Leuk Lymphoma. 2016;57(4):927-34. doi: 10.3109/10428194.2015.1094697. Epub 2015 Oct 27.

7.

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation.

Acuna-Hidalgo R, Bo T, Kwint MP, van de Vorst M, Pinelli M, Veltman JA, Hoischen A, Vissers LE, Gilissen C.

Am J Hum Genet. 2015 Jul 2;97(1):67-74. doi: 10.1016/j.ajhg.2015.05.008. Epub 2015 Jun 6.

8.

Refining analyses of copy number variation identifies specific genes associated with developmental delay.

Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, Li D, Amaral D, Brown N, Lockhart PJ, Scheffer IE, Alberti A, Shaw M, Pettinato R, Tervo R, de Leeuw N, Reijnders MR, Torchia BS, Peeters H, O'Roak BJ, Fichera M, Hehir-Kwa JY, Shendure J, Mefford HC, Haan E, Gécz J, de Vries BB, Romano C, Eichler EE.

Nat Genet. 2014 Oct;46(10):1063-71. doi: 10.1038/ng.3092. Epub 2014 Sep 14.

9.

SETBP1 mutations in 106 patients with therapy-related myeloid neoplasms.

Fabiani E, Falconi G, Fianchi L, Criscuolo M, Leone G, Voso MT.

Haematologica. 2014 Sep;99(9):e152-3. doi: 10.3324/haematol.2014.108159. Epub 2014 Jun 6. No abstract available.

10.

Somatic SETBP1 mutations in myeloid malignancies.

Makishima H, Yoshida K, Nguyen N, Przychodzen B, Sanada M, Okuno Y, Ng KP, Gudmundsson KO, Vishwakarma BA, Jerez A, Gomez-Segui I, Takahashi M, Shiraishi Y, Nagata Y, Guinta K, Mori H, Sekeres MA, Chiba K, Tanaka H, Muramatsu H, Sakaguchi H, Paquette RL, McDevitt MA, Kojima S, Saunthararajah Y, Miyano S, Shih LY, Du Y, Ogawa S, Maciejewski JP.

Nat Genet. 2013 Aug;45(8):942-6. doi: 10.1038/ng.2696. Epub 2013 Jul 7.

11.

Scoliosis in a case of Schinzel-Giedion syndrome.

Sharma AK, Gonzales JA.

HSS J. 2009 Sep;5(2):120-2. doi: 10.1007/s11420-009-9111-1. Epub 2009 Jun 17.

12.

A diagnostic survey of infants referred for chromosome analysis in the neonatal period.

Winter RM, Ridler MA, McKeown JA.

Br Med J. 1980 Oct 18;281(6247):1045-7.

14.

The Schinzel-Giedion syndrome.

al-Gazali LI, Farndon P, Burn J, Flannery DB, Davison C, Mueller RF.

J Med Genet. 1990 Jan;27(1):42-7. Review. No abstract available.

15.

Neurosonography and pathology in the Schinzel-Giedion syndrome.

Maclennan AC, Doyle D, Simpson RM.

J Med Genet. 1991 Aug;28(8):547-9.

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