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Results: 1 to 20 of 108

Similar articles for PubMed (Select 21570718)

1.

Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia.

de la Fuente MA, Recher M, Rider NL, Strauss KA, Morton DH, Adair M, Bonilla FA, Ochs HD, Gelfand EW, Pessach IM, Walter JE, King A, Giliani S, Pai SY, Notarangelo LD.

J Allergy Clin Immunol. 2011 Jul;128(1):139-46. doi: 10.1016/j.jaci.2011.03.042. Epub 2011 May 13.

2.

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
3.

Cartilage-hair hypoplasia: follow-up of immunodeficiency in two patients.

Kainulainen L, Lassila O, Ruuskanen O.

J Clin Immunol. 2014 Feb;34(2):256-9. doi: 10.1007/s10875-013-9981-3. Epub 2014 Jan 9.

PMID:
24402619
4.

Granulomatous inflammation in cartilage-hair hypoplasia: risks and benefits of anti-TNF-α mAbs.

Moshous D, Meyts I, Fraitag S, Janssen CE, Debré M, Suarez F, Toelen J, De Boeck K, Roskams T, Deschildre A, Picard C, Bodemer C, Wouters C, Fischer A.

J Allergy Clin Immunol. 2011 Oct;128(4):847-53. doi: 10.1016/j.jaci.2011.05.024. Epub 2011 Jun 28.

PMID:
21714993
5.

Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia.

Rogler LE, Kosmyna B, Moskowitz D, Bebawee R, Rahimzadeh J, Kutchko K, Laederach A, Notarangelo LD, Giliani S, Bouhassira E, Frenette P, Roy-Chowdhury J, Rogler CE.

Hum Mol Genet. 2014 Jan 15;23(2):368-82. doi: 10.1093/hmg/ddt427. Epub 2013 Sep 5.

6.

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
7.

Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammation.

Crahes M, Saugier-Veber P, Patrier S, Aziz M, Pirot N, Brasseur-Daudruy M, Layet V, Frébourg T, Laquerrière A.

Eur J Med Genet. 2013 Jul;56(7):365-70. doi: 10.1016/j.ejmg.2013.04.004. Epub 2013 May 2.

PMID:
23643676
8.

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
9.

Cartilage-hair hypoplasia caused by novel compound heterozygous RMRP mutations.

Reicherter K, Veeramani AI, Jagadeesh S.

Indian Pediatr. 2011 Jul;48(7):559-61.

PMID:
21813924
10.

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
11.

Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia.

Hermanns P, Bertuch AA, Bertin TK, Dawson B, Schmitt ME, Shaw C, Zabel B, Lee B.

Hum Mol Genet. 2005 Dec 1;14(23):3723-40. Epub 2005 Oct 27.

12.

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
13.

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.

14.

Phenotypic variations of cartilage hair hypoplasia: granulomatous skin inflammation and severe T cell immunodeficiency as initial clinical presentation in otherwise well child with short stature.

McCann LJ, McPartland J, Barge D, Strain L, Bourn D, Calonje E, Verbov J, Riordan A, Kokai G, Bacon CM, Wright M, Abinun M.

J Clin Immunol. 2014 Jan;34(1):42-8. doi: 10.1007/s10875-013-9962-6. Epub 2013 Nov 12.

PMID:
24217815
15.

Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations.

Kavadas FD, Giliani S, Gu Y, Mazzolari E, Bates A, Pegoiani E, Roifman CM, Notarangelo LD.

J Allergy Clin Immunol. 2008 Dec;122(6):1178-84. doi: 10.1016/j.jaci.2008.07.036. Epub 2008 Sep 19.

PMID:
18804272
16.

Marked variability in the radiographic features of cartilage-hair hypoplasia: case report and review of the literature.

Kwan A, Manning MA, Zollars LK, Hoyme HE.

Am J Med Genet A. 2012 Nov;158A(11):2911-6. doi: 10.1002/ajmg.a.35604. Epub 2012 Sep 14. Review.

PMID:
22987807
17.

Treatment of cartilage-hair hypoplasia with recombinant human growth hormone.

Obara-Moszynska M, Wielanowska W, Rojek A, Wolnik-Brzozowska D, Niedziela M.

Pediatr Int. 2013 Dec;55(6):e162-4. doi: 10.1111/ped.12215.

PMID:
24330304
18.

A novel RMRP mutation in a Spanish patient with cartilage-hair hypoplasia.

Muñoz-Robles J, Allende LM, Clemente J, Calleja S, Varela P, Gonzalez L, de Pablos P, Paz E, Morales P.

Immunobiology. 2006;211(9):753-7. Epub 2006 Jun 23.

PMID:
17015150
19.

MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type.

Bonafé L, Liang J, Gorna MW, Zhang Q, Ha-Vinh R, Campos-Xavier AB, Unger S, Beckmann JS, Le Béchec A, Stevenson B, Giedion A, Liu X, Superti-Furga G, Wang W, Spahr A, Superti-Furga A.

Am J Med Genet A. 2014 May;164A(5):1175-9. doi: 10.1002/ajmg.a.36431. Epub 2014 Mar 19.

PMID:
24648384
20.

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.

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