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Items: 1 to 20 of 113

1.

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.

Oud MM, Tuijnenburg P, Hempel M, van Vlies N, Ren Z, Ferdinandusse S, Jansen MH, Santer R, Johannsen J, Bacchelli C, Alders M, Li R, Davies R, Dupuis L, Cale CM, Wanders RJ, Pals ST, Ocaka L, James C, Müller I, Lehmberg K, Strom T, Engels H, Williams HJ, Beales P, Roepman R, Dias P, Brunner HG, Cobben JM, Hall C, Hartley T, Le Quesne Stabej P, Mendoza-Londono R, Davies EG, de Sousa SB, Lessel D, Arts HH, Kuijpers TW.

Am J Hum Genet. 2017 Feb 2;100(2):281-296. doi: 10.1016/j.ajhg.2017.01.013.

PMID:
28132690
2.

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.

3.

Next-Generation Sequencing in Intellectual Disability.

Carvill GL, Mefford HC.

J Pediatr Genet. 2015 Sep;4(3):128-35. doi: 10.1055/s-0035-1564439. Review.

4.

FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations.

Spiegler S, Kirchmaier B, Rath M, Korenke GC, Tetzlaff F, van de Vorst M, Neveling K, Acker-Palmer A, Kuss AW, Gilissen C, Fischer A, Schulte-Merker S, Felbor U.

Mol Syndromol. 2016 Jul;7(3):144-52. doi: 10.1159/000446884.

5.

An International MDS/MPN Working Group's perspective and recommendations on molecular pathogenesis, diagnosis and clinical characterization of myelodysplastic/myeloproliferative neoplasms.

Mughal TI, Cross NC, Padron E, Tiu RV, Savona M, Malcovati L, Tibes R, Komrokji RS, Kiladjian JJ, Garcia-Manero G, Orazi A, Mesa R, Maciejewski JP, Fenaux P, Itzykson R, Mufti G, Solary E, List AF.

Haematologica. 2015 Sep;100(9):1117-30. doi: 10.3324/haematol.2014.114660.

6.

Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience.

Valencia CA, Husami A, Holle J, Johnson JA, Qian Y, Mathur A, Wei C, Indugula SR, Zou F, Meng H, Wang L, Li X, Fisher R, Tan T, Hogart Begtrup A, Collins K, Wusik KA, Neilson D, Burrow T, Schorry E, Hopkin R, Keddache M, Harley JB, Kaufman KM, Zhang K.

Front Pediatr. 2015 Aug 3;3:67. doi: 10.3389/fped.2015.00067.

7.

The recurrent chromosomal translocation t(12;18)(q14~15;q12~21) causes the fusion gene HMGA2-SETBP1 and HMGA2 expression in lipoma and osteochondrolipoma.

Panagopoulos I, Gorunova L, Bjerkehagen B, Lobmaier I, Heim S.

Int J Oncol. 2015 Sep;47(3):884-90. doi: 10.3892/ijo.2015.3099.

8.

A novel mutation of SETBP1 in atypical chronic myeloid leukemia transformed from acute myelomonocytic leukemia.

Hu W, Wang X, Yang R, Xie Y, Zhang Z, Lu H, Wu L, Lai M, Yu K.

Clin Case Rep. 2015 Jun;3(6):448-52. doi: 10.1002/ccr3.243.

9.

DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.

Kessler K, Wunderlich I, Uebe S, Falk NS, Gießl A, Brandstätter JH, Popp B, Klinger P, Ekici AB, Sticht H, Dörr HG, Reis A, Roepman R, Seemanová E, Thiel CT.

Sci Rep. 2015 Jul 1;5:11649. doi: 10.1038/srep11649.

10.

Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome.

Xu X, Yang X, Wu Q, Liu A, Yang X, Ye AY, Huang AY, Li J, Wang M, Yu Z, Wang S, Zhang Z, Wu X, Wei L, Zhang Y.

Hum Mutat. 2015 Sep;36(9):861-72. doi: 10.1002/humu.22819.

11.

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.

12.

Evaluation of a father and son with atypical chronic myeloid leukemia with SETBP1 mutations and a review of the literature.

Wang L, Du F, Zhang HM, Wang HX.

Braz J Med Biol Res. 2015 Jul;48(7):583-7. doi: 10.1590/1414-431X20154557. Review.

13.

From the Biology of PP2A to the PADs for Therapy of Hematologic Malignancies.

Ciccone M, Calin GA, Perrotti D.

Front Oncol. 2015 Feb 16;5:21. doi: 10.3389/fonc.2015.00021. Review.

14.

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.

Vrijenhoek T, Kraaijeveld K, Elferink M, de Ligt J, Kranendonk E, Santen G, Nijman IJ, Butler D, Claes G, Costessi A, Dorlijn W, van Eyndhoven W, Halley DJ, van den Hout MC, van Hove S, Johansson LF, Jongbloed JD, Kamps R, Kockx CE, de Koning B, Kriek M, Lekanne Dit Deprez R, Lunstroo H, Mannens M, Mook OR, Nelen M, Ploem C, Rijnen M, Saris JJ, Sinke R, Sistermans E, van Slegtenhorst M, Sleutels F, van der Stoep N, van Tienhoven M, Vermaat M, Vogel M, Waisfisz Q, Marjan Weiss J, van den Wijngaard A, van Workum W, Ijntema H, van der Zwaag B, van IJcken WF, den Dunnen J, Veltman JA, Hennekam R, Cuppen E.

Eur J Hum Genet. 2015 Sep;23(9):1142-50. doi: 10.1038/ejhg.2014.279. Erratum in: Eur J Hum Genet. 2015 Sep;23(9):1270. Mook, Olaf R [added].

15.

Alteration of the SETBP1 gene and splicing pathway genes SF3B1, U2AF1, and SRSF2 in childhood acute myeloid leukemia.

Choi HW, Kim HR, Baek HJ, Kook H, Cho D, Shin JH, Suh SP, Ryang DW, Shin MG.

Ann Lab Med. 2015 Jan;35(1):118-22. doi: 10.3343/alm.2015.35.1.118.

16.

Subclonal mutations in SETBP1 confer a poor prognosis in juvenile myelomonocytic leukemia.

Stieglitz E, Troup CB, Gelston LC, Haliburton J, Chow ED, Yu KB, Akutagawa J, Taylor-Weiner AN, Liu YL, Wang YD, Beckman K, Emanuel PD, Braun BS, Abate A, Gerbing RB, Alonzo TA, Loh ML.

Blood. 2015 Jan 15;125(3):516-24. doi: 10.1182/blood-2014-09-601690.

17.

De novo mutations in moderate or severe intellectual disability.

Hamdan FF, Srour M, Capo-Chichi JM, Daoud H, Nassif C, Patry L, Massicotte C, Ambalavanan A, Spiegelman D, Diallo O, Henrion E, Dionne-Laporte A, Fougerat A, Pshezhetsky AV, Venkateswaran S, Rouleau GA, Michaud JL.

PLoS Genet. 2014 Oct 30;10(10):e1004772. doi: 10.1371/journal.pgen.1004772.

18.

Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.

Hunt D, Leventer RJ, Simons C, Taft R, Swoboda KJ, Gawne-Cain M; DDD study., Magee AC, Turnpenny PD, Baralle D.

J Med Genet. 2014 Dec;51(12):806-13. doi: 10.1136/jmedgenet-2014-102798.

19.

cnvCapSeq: detecting copy number variation in long-range targeted resequencing data.

Bellos E, Kumar V, Lin C, Maggi J, Phua ZY, Cheng CY, Cheung CM, Hibberd ML, Wong TY, Coin LJ, Davila S.

Nucleic Acids Res. 2014 Nov 10;42(20):e158. doi: 10.1093/nar/gku849.

20.

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.

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