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Items: 1 to 20 of 101

1.

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.

2.

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
3.

[Clinical and molecular diagnostics of a cartilage-hair hypoplasia: Two new cases].

Fenollar-Cortés M, Lara-Orejas E, González-Meneses A, Ruibal-Francisco JL, Trujillo-Tiebas MJ.

An Pediatr (Barc). 2015 Jun;82(6):436-9. doi: 10.1016/j.anpedi.2014.12.008. Epub 2015 Jan 20. Spanish. No abstract available.

4.

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

Mäkitie O.

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

PMID:
7736981
5.

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
6.

Cartilage-hair hypoplasia associated with isolated hypoganglionosis: A case report.

Yasui Y, Kohno M, Nishida S, Shironomae T, Satomi M, Kuwahara T, Takahashi S, Niida Y.

Congenit Anom (Kyoto). 2017 Jan;57(1):32-34. doi: 10.1111/cga.12175.

PMID:
27270827
7.

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.

8.

Uniparental disomy in cartilage-hair hypoplasia.

Sulisalo T, Mäkitie O, Sistonen P, Ridanpää M, el-Rifai W, Ruuskanen O, de la Chapelle A, Kaitila I.

Eur J Hum Genet. 1997 Jan-Feb;5(1):35-42.

PMID:
9156319
9.

Cut to the quick.

Su R, Katsumoto TR, George V, Gundling K, Hollander H.

J Hosp Med. 2013 Feb;8(2):110-3. doi: 10.1002/jhm.2000. Epub 2013 Jan 3. No abstract available.

PMID:
23288681
10.

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
11.

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
12.

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
13.

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.

14.

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
15.

Combating cancer predisposition in association with idiopathic immune deficiency: a recurrent nodal and cutaneous T-cell lymphoproliferative disease in a patient with cartilage-hair hypoplasia.

Taskinen M, Jeskanen L, Karjalainen-Lindsberg ML, Mäkitie A, Mäkitie O, Ranki A.

Clin Lymphoma Myeloma Leuk. 2013 Feb;13(1):73-6. doi: 10.1016/j.clml.2012.06.005. Epub 2012 Sep 20. No abstract available.

PMID:
22999941
16.

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.

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.

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.

19.

Increased mortality in cartilage-hair hypoplasia.

Mäkitie O, Pukkala E, Kaitila I.

Arch Dis Child. 2001 Jan;84(1):65-67.

20.

Locus homogeneity for cartilage-hair hypoplasia proven?

Krawczak M.

Hum Genet. 1995 Sep;96(3):371-2. No abstract available.

PMID:
7649562

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