|1.||Mäkitie, Outi: 6 articles (04/2013 - 11/2002)|
|2.||Taskinen, Mervi: 4 articles (04/2013 - 09/2005)|
|3.||Thiel, Christian T: 3 articles (02/2011 - 11/2005)|
|4.||Rauch, Anita: 3 articles (02/2011 - 11/2005)|
|5.||Kaitila, Ilkka: 3 articles (09/2008 - 11/2002)|
|6.||Mäkitie, O: 3 articles (06/2001 - 02/2000)|
|7.||Kaitila, I: 3 articles (06/2001 - 02/2000)|
|8.||Strauss, Kevin A: 2 articles (04/2015 - 04/2009)|
|9.||Morton, D Holmes: 2 articles (04/2015 - 04/2009)|
|10.||Salzer, Ulrich: 2 articles (11/2013 - 09/2010)|
07/01/2015 - "Cartilage-hair hypoplasia (CHH) is an autosomal recessive disorder which is characterized by bone metaphysis anomalies with manifestations that include short stature, defective cellular immunity, and predisposition to several cancers. "
02/01/2013 - "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."
01/26/2001 - "The recessively inherited developmental disorder, cartilage-hair hypoplasia (CHH) is highly pleiotropic with manifestations including short stature, defective cellular immunity, and predisposition to several cancers. "
03/01/1999 - "Previous reports have suggested an increased risk of cancer among patients with cartilage-hair hypoplasia (CHH). "
03/01/1999 - "Increased incidence of cancer in patients with cartilage-hair hypoplasia."
06/01/1983 - "Recent studies of cartilage-hair hypoplasia (CHH), a form of short-limbed dwarfism, have shown that all affected individuals have a cellular proliferation defect that results in a cellular immunodeficiency. "
01/01/2010 - "Cartilage-hair hypoplasia (CHH) is a rare autosomal-recessive disorder characterized by short-limbed dwarfism, sparse hair, and immune deficiency. "
01/01/2000 - "[Short-limbed dwarfism with immunodeficiency, cartilage-hair hypoplasia, metaphyseal chondrodysplasia, Gutti-Lux syndrome]."
11/01/1999 - "Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive short-limbed dwarfism associated with thin and sparse hair and cell mediated or combined immunodeficiency. "
08/01/1997 - "Cartilage hair hypoplasia is a rare autosomal recessive form of short-limbed dwarfism associated with a cellular immunodeficiency. "
04/01/2009 - "Our cohort analysis suggests that many patients with cartilage-hair hypoplasia are at risk for infection susceptibility particularly during the first 2 years of life. "
10/01/1998 - "Susceptibility to infections and in vitro immune functions in cartilage-hair hypoplasia."
06/01/1983 - "Natural cytotoxicity may be of importance in maintaining host resistance to viral infections despite diminished thymic-derived effector mechanisms in cartilage-hair hypoplasia."
12/01/2008 - "We report an invasive HBoV infection and hepatitis in a boy with cartilage-hair hypoplasia and severe T-cell immunodeficiency."
02/01/1995 - "We report a child with cartilage-hair hypoplasia and Hodgkin's disease who developed progressive renal failure and died following infection with a polyomavirus, BK virus. "
09/15/2005 - "Anemia is seen in over 80% of patients with cartilage-hair hypoplasia (CHH). "
09/15/2005 - "The natural history of severe anemia in cartilage-hair hypoplasia."
09/15/2005 - "Analysis of RPS19 in patients with cartilage-hair hypoplasia and severe anemia: preliminary results."
11/01/2012 - "Cartilage-hair hypoplasia (CHH) is a rare recessive metaphyseal chondrodysplasia characterized by severe short stature, ectodermal dysplasia, anemia in childhood, immune deficiency, susceptibility to malignancy, and normal intelligence. "
02/01/2000 - "Anemia in children with cartilage-hair hypoplasia is related to body growth and to the insulin-like growth factor system."
|5.||Hirschsprung Disease (Hirschsprung's Disease)
11/01/2002 - "Cartilage-hair hypoplasia (CHH) is a chondrodysplasia with growth failure, impaired immunity, and high incidence of Hirschsprung disease (HD). "
11/01/2002 - "Hirschsprung's disease in cartilage-hair hypoplasia has poor prognosis."
06/01/2001 - "Cartilage-hair hypoplasia is a chondrodysplasia with a high incidence of Hirschsprung disease. "
06/01/2001 - "Hirschsprung disease associated with severe cartilage-hair hypoplasia."
04/01/1995 - "Immunological abnormalities and Hirschsprung disease, so far described only in cartilage hair hypoplasia (CHH), were documented during the first months of life in our patient. "
|1.||Messenger RNA (mRNA)
|2.||Complementary DNA (cDNA)
|3.||Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)
|5.||Fructose-Bisphosphate Aldolase (Aldolase)
|7.||Bone Marrow failure syndromes
|1.||Chelation Therapy (Therapy, Chelation)