MM Hagleitner, A Lankester, P Maraschio, M … - British Medical Journal, 2008 - jmg.bmj.com Background: Immunodeficiency, centromeric instability and facial dysmorphism
(ICF syndrome) is a rare autosomal recessive disease characterised by facial
dysmorphism, immunoglobulin deficiency and branching of chromosomes 1, 9 ... Cited by 7 - Related articles - BL Direct - All 6 versions
- ►shouxi.net AR Gennery, MA Slatter, RG Bredius, MM … - Pediatrics, 2007 - Am Acad Pediatrics Immunodeficiency–centromeric instability–facial dysmorphism syndrome,
characterized by variable immunodeficiency, centromeric instability, and facial
anomalies caused by epigenetic dysregulation resulting in hypomethylation, ... Cited by 6 - Related articles - BL Direct - All 8 versions
B Kloeckener-Gruissem, DR Betts, A Zankl, W … - American Journal of Medical Genetics Part A, 2005 - interscience.wiley.com The ICF syndrome (immunodeficiency, centromeric instability, facial anomalies)
(OMIM#242860) is a rare autosomal, recessively inherited disorder. Another rare
condition, ischiadic hypoplasia, renal dysgenesis, immunodeficiency, and ... Cited by 10 - Related articles - BL Direct - All 3 versions
JE Ming, ER Stiehm - Immunology and Allergy Clinics of North America, 2008 - Elsevier This article reviews the major syndromic immunodeficiencies with significant
antibody defects, many of which may require intravenous immunogammaglobulin
therapy. The authors define syndromic immunodeficiency as an illness ... Cited by 2 - Related articles - All 15 versions
C Schuetz, G Barbi, TF Barth, M Hoenig, A … - American journal of medical genetics. Part A, 2007 - interscience.wiley.com It is also possible that your web browser is not configured or not able to
display style sheets. In this case, although the visual presentation will be
degraded, the site should continue to be functional. We recommend using the ... Cited by 3 - Related articles - BL Direct - All 4 versions
A Pezzolo, I Prigione, P Facchetti, E … - Journal of Allergy and Clinical Immunology, 2001 - eblue.org Journal of the American Academy of Dermatology, Volume 108, Issue 2, Pages 310-312,
August 2001, Authors:Annalisa Pezzolo; Ignazia Prigione; Paola Facchetti; Emanuela ... Cited by 3 - Related articles - Cached - BL Direct - All 5 versions
A Masri, FG Bakri, M Al-Hussaini, A Al-Hadidy … - Journal of Child Neurology, 2008 - jcn.sagepub.com At the cellular level, this disease reflects dysfunction of at least 2 types of
specialized lysosome-related organelles: melanosomes in melanocytes and lytic
granules in cytotoxic T lymphocytes. Griscelli syndrome melanocytes show an ... Cited by 4 - Related articles - All 3 versions
JM Clewing, H Fryssira, D Goodman, SF … - Human mutation, 2007 - interscience.wiley.com Schimke immunoosseous dysplasia (SIOD), which is characterized by prominent
spondyloepiphyseal dysplasia, T-cell deficiency, and focal segmental
glomerulosclerosis, is a panethnic autosomal recessive multisystem disorder ... Cited by 10 - Related articles - BL Direct - All 6 versions
LD Notarangelo, CM Roifman, S Giliani - Current Opinion in Allergy and Clinical Immunology, 2008 - journals.lww.com Introduction Cartilage-hair hypoplasia [CHH; Mendelian Inheritance in Man (MIM)
250250] is an autosomal recessive form of metaphyseal chondrodysplasia, variably
associated with extraskeletal features, including immunodeficiency [1,2]. ... Cited by 5 - Related articles - All 2 versions
FD Kavadas, S Giliani, Y Gu, E Mazzolari, A … - The Journal of Allergy and Clinical Immunology, 2008 - Elsevier Cartilage hair hypoplasia is an autosomal recessive type of metaphyseal
chondrodysplasia, caused by mutations in the ribonuclease mitochondrial RNA
processing (RMRP) gene. Typical features of cartilage hair hypoplasia ... Cited by 5 - Related articles - All 35 versions
