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Items: 10

1.

Schinzel-Giedion syndrome: a novel case, review and revised diagnostic criteria.

Liu WL, He ZX, Li F, Ai R, Ma HW.

J Genet. 2018 Mar;97(1):35-46. Review.

2.

Novel homozygous FANCL mutation and somatic heterozygous SETBP1 mutation in a Chinese girl with Fanconi Anemia.

Wu W, Liu Y, Zhou Q, Wang Q, Luo F, Xu Z, Geng Q, Li P, Zhang HZ, Xie J.

Eur J Med Genet. 2017 Jul;60(7):369-373. doi: 10.1016/j.ejmg.2017.04.008. Epub 2017 Apr 15.

PMID:
28419882
3.

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.

4.

Genome-Wide Association and Exome Sequencing Study of Language Disorder in an Isolated Population.

Kornilov SA, Rakhlin N, Koposov R, Lee M, Yrigollen C, Caglayan AO, Magnuson JS, Mane S, Chang JT, Grigorenko EL.

Pediatrics. 2016 Apr;137(4). pii: e20152469. doi: 10.1542/peds.2015-2469. Epub 2016 Mar 25.

5.

Monogenic and chromosomal causes of isolated speech and language impairment.

Barnett CP, van Bon BW.

J Med Genet. 2015 Nov;52(11):719-29. doi: 10.1136/jmedgenet-2015-103161. Epub 2015 Jul 2. Review.

PMID:
26139234
6.

Whole exome sequencing of suspected mitochondrial patients in clinical practice.

Wortmann SB, Koolen DA, Smeitink JA, van den Heuvel L, Rodenburg RJ.

J Inherit Metab Dis. 2015 May;38(3):437-43. doi: 10.1007/s10545-015-9823-y. Epub 2015 Mar 4.

7.

Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features.

Carvalho E, Honjo R, Magalhães M, Yamamoto G, Rocha K, Naslavsky M, Zatz M, Passos-Bueno MR, Kim C, Bertola D.

Am J Med Genet A. 2015 May;167A(5):1039-46. doi: 10.1002/ajmg.a.36789. Epub 2015 Feb 7.

PMID:
25663181
8.

Current strategies in the diagnosis and management of chronic neutrophilic leukemia.

Otgonbat A, Zhao M.

Chin Med J (Engl). 2014;127(24):4258-62. Review.

PMID:
25533830
9.

Recurrent ETNK1 mutations in atypical chronic myeloid leukemia.

Gambacorti-Passerini CB, Donadoni C, Parmiani A, Pirola A, Redaelli S, Signore G, Piazza V, Malcovati L, Fontana D, Spinelli R, Magistroni V, Gaipa G, Peronaci M, Morotti A, Panuzzo C, Saglio G, Usala E, Kim DW, Rea D, Zervakis K, Viniou N, Symeonidis A, Becker H, Boultwood J, Campiotti L, Carrabba M, Elli E, Bignell GR, Papaemmanuil E, Campbell PJ, Cazzola M, Piazza R.

Blood. 2015 Jan 15;125(3):499-503. doi: 10.1182/blood-2014-06-579466. Epub 2014 Oct 24.

10.

Comprehensive mutational profiling in advanced systemic mastocytosis.

Schwaab J, Schnittger S, Sotlar K, Walz C, Fabarius A, Pfirrmann M, Kohlmann A, Grossmann V, Meggendorfer M, Horny HP, Valent P, Jawhar M, Teichmann M, Metzgeroth G, Erben P, Ernst T, Hochhaus A, Haferlach T, Hofmann WK, Cross NC, Reiter A.

Blood. 2013 Oct 3;122(14):2460-6. doi: 10.1182/blood-2013-04-496448. Epub 2013 Aug 19.

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