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Items: 1 to 20 of 196

1.

Cerebellar atrophy in Schimke-immuno-osseous dysplasia.

Lücke T, Clewing JM, Boerkoel CF, Hartmann H, Das AM, Knauth M, Becker H, Donnerstag F.

Am J Med Genet A. 2007 Sep 1;143A(17):2040-5.

PMID:
17676601
2.

Schimke versus non-Schimke chronic kidney disease: an anthropometric approach.

Lücke T, Franke D, Clewing JM, Boerkoel CF, Ehrich JH, Das AM, Zivicnjak M.

Pediatrics. 2006 Aug;118(2):e400-7. Epub 2006 Jun 30.

PMID:
16816006
3.

Schimke immuno-osseous dysplasia.

Basiratnia M, Fallahzadeh MH.

Saudi Med J. 2007 Mar;28(3):457-60. Erratum in: Saudi Med J. 2007 Jun;28(6):988.

PMID:
17334480
4.

[Schimke immuno-osseous dysplasia. A pediatric disease reaches adulthood].

Lücke T, Kanzelmeyer N, Franke D, Hartmann H, Ehrich JH, Das AM.

Med Klin (Munich). 2006 Mar 15;101(3):208-11. German.

PMID:
16648978
5.

Schimke-immuno-osseous dysplasia: new mutation with weak genotype-phenotype correlation in siblings.

Lücke T, Billing H, Sloan EA, Boerkoel CF, Franke D, Zimmering M, Ehrich JH, Das AM.

Am J Med Genet A. 2005 Jun 1;135(2):202-5.

PMID:
15880370
6.

Fatal lymphoproliferative disorder in a child with Schimke immuno-osseous dysplasia.

Taha D, Boerkoel CF, Balfe JW, Khalifah M, Sloan EA, Barbar M, Haider A, Kanaan H.

Am J Med Genet A. 2004 Dec 1;131(2):194-9.

PMID:
15523612
7.

A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD).

Santangelo L, Gigante M, Netti GS, Diella S, Puteo F, Carbone V, Grandaliano G, Giordano M, Gesualdo L.

BMC Nephrol. 2014 Mar 3;15:41. doi: 10.1186/1471-2369-15-41.

8.

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

Boerkoel CF, Takashima H, John J, Yan J, Stankiewicz P, Rosenbarker L, André JL, Bogdanovic R, Burguet A, Cockfield S, Cordeiro I, Fründ S, Illies F, Joseph M, Kaitila I, Lama G, Loirat C, McLeod DR, Milford DV, Petty EM, Rodrigo F, Saraiva JM, Schmidt B, Smith GC, Spranger J, Stein A, Thiele H, Tizard J, Weksberg R, Lupski JR, Stockton DW.

Nat Genet. 2002 Feb;30(2):215-20. Epub 2002 Jan 22.

PMID:
11799392
9.

Schimke immuno-osseous dysplasia: expression of SMARCAL1 in blood and kidney provides novel insight into disease phenotype.

Dekel B, Metsuyanim S, Goldstein N, Pode-Shakked N, Kovalski Y, Cohen Y, Davidovits M, Anikster Y.

Pediatr Res. 2008 Apr;63(4):398-403. doi: 10.1203/PDR.0b013e31816721cc.

PMID:
18356746
10.

Novel compound mutations of SMARCAL1 associated with severe Schimke immuno-osseous dysplasia in a Chinese patient.

Yue Z, Xiong S, Sun L, Huang W, Mo Y, Huang L, Jiang X, Chen S, Hu B, Wang Y.

Nephrol Dial Transplant. 2010 May;25(5):1697-702. doi: 10.1093/ndt/gfq071. Epub 2010 Feb 22.

PMID:
20179009
11.

Schimke immuno-osseous dysplasia: a cell autonomous disorder?

Elizondo LI, Huang C, Northrop JL, Deguchi K, Clewing JM, Armstrong DL, Boerkoel CF.

Am J Med Genet A. 2006 Feb 15;140(4):340-8.

PMID:
16419127
12.

Molecular assessment of thymic capacities in patients with Schimke immuno-osseous dysplasia.

Lev A, Amariglio N, Levy Y, Spirer Z, Anikster Y, Rechavi G, Dekel B, Somech R.

Clin Immunol. 2009 Dec;133(3):375-81. doi: 10.1016/j.clim.2009.08.017. Epub 2009 Sep 30.

PMID:
19796992
13.

Cerebral complications in Schimke immuno-osseous dysplasia.

Schmidt B, Christen HJ, Herkenrath P, Benz-Bohm G, Müller-Berghaus J, Querfeld U.

Eur J Pediatr. 1997 Oct;156(10):789-91.

PMID:
9365070
14.

Association of migraine-like headaches with Schimke immuno-osseous dysplasia.

Kilic SS, Donmez O, Sloan EA, Elizondo LI, Huang C, André JL, Bogdanovic R, Cockfield S, Cordeiro I, Deschenes G, Fründ S, Kaitila I, Lama G, Lamfers P, Lücke T, Milford DV, Najera L, Rodrigo F, Saraiva JM, Schmidt B, Smith GC, Stajic N, Stein A, Taha D, Wand D, Armstrong D, Boerkoel CF.

Am J Med Genet A. 2005 Jun 1;135(2):206-10.

PMID:
15884045
15.

Tracheobronchial anomalies in a patient with Schimke immuno-osseous dysplasia (SIOD).

Mobeireek A, Saleemi S, Khalid M, Imtiaz F, Almutairy EA.

Am J Med Genet A. 2015 Feb;167A(2):434-7. doi: 10.1002/ajmg.a.36858. Epub 2014 Nov 26.

PMID:
25428399
16.

Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).

Sanyal M, Morimoto M, Baradaran-Heravi A, Choi K, Kambham N, Jensen K, Dutt S, Dionis-Petersen KY, Liu LX, Felix K, Mayfield C, Dekel B, Bokenkamp A, Fryssira H, Guillen-Navarro E, Lama G, Brugnara M, Lücke T, Olney AH, Hunley TE, Polat AI, Yis U, Bogdanovic R, Mitrovic K, Berry S, Najera L, Najafian B, Gentile M, Nur Semerci C, Tsimaratos M, Lewis DB, Boerkoel CF.

Clin Immunol. 2015 Dec;161(2):355-65. doi: 10.1016/j.clim.2015.10.005. Epub 2015 Oct 21.

PMID:
26499378
17.

Membranous nephropathy in Schimke immuno-osseous dysplasia.

Ozdemir N, Alpay H, Bereket A, Bereket G, Biyikli N, Aydoğan M, Cakalağoğlu F, Kiliçaslan I, Akpinar I.

Pediatr Nephrol. 2006 Jun;21(6):870-2. Epub 2006 Mar 29.

PMID:
16570201
18.

Bone marrow transplantation in Schimke immuno-osseous dysplasia.

Baradaran-Heravi A, Lange J, Asakura Y, Cochat P, Massella L, Boerkoel CF.

Am J Med Genet A. 2013 Oct;161A(10):2609-13. doi: 10.1002/ajmg.a.36111. Epub 2013 Aug 15. Review.

19.

[SMARCAL1 gene analysis of 2 Chinese Schimke immuno-osseous dysplasia children].

Wang W, Song H, Wei M, Qiu Z, Wang C, Zhang Y, Li M, Yuan Y, Tang X.

Zhonghua Er Ke Za Zhi. 2015 Jan;53(1):45-50. Chinese.

PMID:
25748404
20.

SMARCAL1 mutations: a cause of prepubertal idiopathic steroid-resistant nephrotic syndrome.

Zivicnjak M, Franke D, Zenker M, Hoyer J, Lücke T, Pape L, Ehrich JH.

Pediatr Res. 2009 May;65(5):564-8. doi: 10.1203/PDR.0b013e3181998a74.

PMID:
19127206

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