Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 119

1.

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
2.

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
3.

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
4.

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
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.

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
7.

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
8.

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
9.

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.

10.

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.

11.

Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations.

Ip W, Gaspar HB, Kleta R, Chanudet E, Bacchelli C, Pitts A, Nademi Z, Davies EG, Slatter MA, Amrolia P, Rao K, Veys P, Gennery AR, Qasim W.

J Clin Immunol. 2015 Feb;35(2):147-57. doi: 10.1007/s10875-015-0135-7. Epub 2015 Feb 8.

PMID:
25663137
12.

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.

13.

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
14.

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.

15.

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
16.

Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia.

Hirose Y, Nakashima E, Ohashi H, Mochizuki H, Bando Y, Ogata T, Adachi M, Toba E, Nishimura G, Ikegawa S.

J Hum Genet. 2006;51(8):706-10. Epub 2006 Jul 11.

PMID:
16832578
17.

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
18.

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
19.

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
20.

Cartilage-hair hypoplasia syndrome: implications for prenatal diagnosis.

Dungan JS, Emerson DS, Phillips OP, Shulman LP.

Fetal Diagn Ther. 1996 Nov-Dec;11(6):398-401.

PMID:
9115626
Items per page

Supplemental Content

Write to the Help Desk