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Items: 1 to 20 of 104

1.

Autoimmune hypoparathyroidism in a 12-year-old girl with McKusick cartilage hair hypoplasia.

Bacchetta J, Ranchin B, Brunet AS, Bouvier R, Duquesne A, Edery P, Fabien N, Peretti N.

Pediatr Nephrol. 2009 Dec;24(12):2449-53. doi: 10.1007/s00467-009-1256-0. Epub 2009 Jul 22.

PMID:
19626344
2.

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
3.

An effective case of growth hormone treatment on cartilage-hair hypoplasia.

Harada D, Yamanaka Y, Ueda K, Shimizu J, Inoue M, Seino Y, Tanaka H.

Bone. 2005 Feb;36(2):317-22.

PMID:
15780958
4.

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.

PMID:
16254002
5.

RMRP mutations in cartilage-hair hypoplasia.

Hermanns P, Tran A, Munivez E, Carter S, Zabel B, Lee B, Leroy JG.

Am J Med Genet A. 2006 Oct 1;140(19):2121-30.

PMID:
16838329
6.

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
7.

Growth hormone treatment in cartilage-hair hypoplasia: effects on growth and the immune system.

Bocca G, Weemaes CM, van der Burgt I, Otten BJ.

J Pediatr Endocrinol Metab. 2004 Jan;17(1):47-54.

PMID:
14960021
8.

The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases.

Ridanpää M, Jain P, McKusick VA, Francomano CA, Kaitila I.

Am J Med Genet C Semin Med Genet. 2003 Aug 15;121C(1):81-3.

PMID:
12888988
9.

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
10.

RMRP mutations in Japanese patients with cartilage-hair hypoplasia.

Nakashima E, Mabuchi A, Kashimada K, Onishi T, Zhang J, Ohashi H, Nishimura G, Ikegawa S.

Am J Med Genet A. 2003 Dec 15;123A(3):253-6.

PMID:
14608646
11.
12.

Genetic homogeneity of cartilage-hair hypoplasia.

Sulisalo T, van der Burgt I, Rimoin DL, Bonaventure J, Sillence D, Campbell JB, Chitayat D, Scott CI, de la Chapelle A, Sistonen P, et al.

Hum Genet. 1995 Feb;95(2):157-60.

PMID:
7860061
13.

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
14.

Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation.

Bordon V, Gennery AR, Slatter MA, Vandecruys E, Laureys G, Veys P, Qasim W, Friedrich W, Wulfraat NM, Scherer F, Cant AJ, Fischer A, Cavazzana-Calvo M, Bredius RG, Notarangelo LD, Mazzolari E, Neven B, Güngör T; Inborn Error Working Party of the European Bone Marrow Transplantation (EBMT) group.

Blood. 2010 Jul 8;116(1):27-35. doi: 10.1182/blood-2010-01-259168. Epub 2010 Apr 7. Erratum in: Blood. 2010 Sep 30;116(13):2402. Waseem, Qasim [corrected to Qasim, Waseem];Tayfun, Güngör [corrected to Güngör, Tayfun]. Blood. 2011 Feb 10;117(6):2077. Cavazanna-Calvo, Marina [corrected to Cavazzana-Calvo, Marina].

15.

[Hypocalcemia-induced heart failure as the initial symptom of hypoparathyroidism].

Koch A, Hofbeck M, Dörr HG, Singer H.

Z Kardiol. 1999 Jan;88(1):10-3. German.

PMID:
11021271
16.

[Cartilage-hair hypoplasia--much more than growth problem].

Taskinen M, Mäkitie O.

Duodecim. 2011;127(3):273-9. Review. Finnish.

PMID:
21438350
17.
18.

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
19.

Early prenatal diagnosis of cartilage-hair hypoplasia (CHH) with polymorphic DNA markers.

Sulisalo T, Sillence D, Wilson M, Ryynänen M, Kaitila I.

Prenat Diagn. 1995 Feb;15(2):135-40.

PMID:
7784364
20.

Increased mortality in cartilage-hair hypoplasia.

Mäkitie O, Pukkala E, Kaitila I.

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

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