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Results: 1 to 20 of 107

1.

Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia.

Baradaran-Heravi A, Thiel C, Rauch A, Zenker M, Boerkoel CF, Kaitila I.

Am J Med Genet A. 2008 Aug 1;146A(15):2013-7. doi: 10.1002/ajmg.a.32406. No abstract available.

PMID:
18627050
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Novel mutation in boy with cartilage-hair hypoplasia.

Lin IC, Yu HR, Lin YJ, Wang TJ.

Pediatr Neonatol. 2010 Dec;51(6):326-9. doi: 10.1016/S1875-9572(10)60063-0.

PMID:
21146796
[PubMed - indexed for MEDLINE]
3.

Short stature and metaphyeal dysplasia due to cartilage-hair hypoplasia.

Conwell LS, Hermanns P, Zankl A.

J Pediatr Endocrinol Metab. 2008 Mar;21(3):209-11. No abstract available.

PMID:
18540246
[PubMed - indexed for MEDLINE]
4.

[Cartilage-hair hypoplasia].

Erdos M, Tóth B, Almássy Z, Tímár L, Maródi L.

Orv Hetil. 2008 Feb 3;149(5):209-17. doi: 10.1556/OH.2008.28256. Review. Hungarian.

PMID:
18218588
[PubMed - indexed for MEDLINE]
5.

Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia.

Türkkani-Asal G, Alanay Y, Turul-Ozgür T, Zenker M, Thiel C, Rauch A, Unal S, Gürgey A, Tezcan I.

Turk J Pediatr. 2009 Sep-Oct;51(5):493-6.

PMID:
20112607
[PubMed - indexed for MEDLINE]
Free Article
6.

Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasia.

Horn J, Schlesier M, Warnatz K, Prasse A, Superti-Furga A, Peter HH, Salzer U.

Hum Immunol. 2010 Sep;71(9):916-9. doi: 10.1016/j.humimm.2010.06.002. Epub 2010 Jun 9.

PMID:
20538026
[PubMed - indexed for MEDLINE]
7.

Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation.

Elizondo LI, Cho KS, Zhang W, Yan J, Huang C, Huang Y, Choi K, Sloan EA, Deguchi K, Lou S, Baradaran-Heravi A, Takashima H, Lücke T, Quiocho FA, Boerkoel CF.

J Med Genet. 2009 Jan;46(1):49-59. doi: 10.1136/jmg.2008.060095. Epub 2008 Sep 19.

PMID:
18805831
[PubMed - indexed for MEDLINE]
8.

Radiologic changes in infancy in McKusick cartilage hair hypoplasia.

Glass RB, Tifft CJ.

Am J Med Genet. 1999 Oct 8;86(4):312-5.

PMID:
10494084
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
Free Article
11.

The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum.

Thiel CT, Rauch A.

Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):131-42. doi: 10.1016/j.beem.2010.08.004. Review.

PMID:
21396580
[PubMed - indexed for MEDLINE]
12.

Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum.

Thiel CT, Mortier G, Kaitila I, Reis A, Rauch A.

Am J Hum Genet. 2007 Sep;81(3):519-29. Epub 2007 Aug 6.

PMID:
17701897
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

An infant with cartilage-hair hypoplasia due to a novel homozygous mutation in the promoter region of the RMRP gene associated with chondrodysplasia and severe immunodeficiency.

Vatanavicharn N, Visitsunthorn N, Pho-iam T, Jirapongsananuruk O, Pacharn P, Chokephaibulkit K, Limwongse C, Wasant P.

J Appl Genet. 2010;51(4):523-8. doi: 10.1007/BF03208884.

PMID:
21063072
[PubMed - indexed for MEDLINE]
14.

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
[PubMed - indexed for MEDLINE]
15.

Schimke immuno-osseous dysplasia: a clinicopathological correlation.

Clewing JM, Antalfy BC, Lücke T, Najafian B, Marwedel KM, Hori A, Powel RM, Do AF, Najera L, SantaCruz K, Hicks MJ, Armstrong DL, Boerkoel CF.

J Med Genet. 2007 Feb;44(2):122-30. Epub 2006 Jul 13.

PMID:
16840568
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Cartilage-hair hypoplasia.

Mäkitie O, Sulisalo T, de la Chapelle A, Kaitila I.

J Med Genet. 1995 Jan;32(1):39-43. Review. No abstract available.

PMID:
7897625
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Cartilage hair hypoplasia and celiac disease: report of an Indian girl with novel genotype.

Singh A, Krishnan R, Bhattacharya M, Pradhan G, Salzer U, Kapoor S.

Indian J Gastroenterol. 2013 Nov;32(6):409-12. doi: 10.1007/s12664-013-0358-6. Epub 2013 Aug 17.

PMID:
23949991
[PubMed - indexed for MEDLINE]
18.
19.

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;161(10):2609-13. doi: 10.1002/ajmg.a.36111. Epub 2013 Aug 15. Review.

PMID:
23950031
[PubMed - indexed for MEDLINE]
20.

[Cartilage-hair hypoplasia--a Finnish growth disorder].

Mäkitie O.

Duodecim. 1993;109(19):1638-46. Finnish. No abstract available.

PMID:
7736981
[PubMed - indexed for MEDLINE]

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