![]() Results from completed studies may take several years to publish. To find results from a specific research study, use the lead researcher’s name and key words from the study as search terms. To find published results, try searching PubMed using the name of the rare disease. PubMed is a database of published research articles. 69:54-9.The following resources can be used to stay informed about new treatments and research results related to a rare disease: ![]() Inter-observer variance and the need for standardization in the morphological classification of myelodysplastic syndrome. Detection of Pelger-Huet anomaly based on augmented fast marching method and speeded up robust features. A neonate with the Pelger-Huët anomaly, cleft lip and palate, and agenesis of the corpus callosum, with a chromosomal microdeletion involving 1q41 to 1q42.12. Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients. ![]() Pelger-Huët anomaly in a child with 1q42.3-44 deletion. Kalfa TA, Zimmerman SA, Goodman BK, et al. Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR. 40(12):937-41.īorovik L, Modaff P, Waterham HR, Krentz AD, Pauli RM. Congenital abnormalities reported in Pelger-Huët homozygosity as compared to Greenberg/HEM dysplasia: highly variable expression of allelic phenotypes. Oosterwijk JC, Mansour S, van Noort G, et al. The Lamin B receptor is essential for cholesterol synthesis and perturbed by disease-causing mutations. Pelger-Huet anomaly and Greenberg skeletal dysplasia: LBR-associated diseases of cholesterol metabolism. Cytogenetic and functional studies of leukocytes with Pelger-Huët anomaly. Matsumoto T, Harada Y, Yamaguchi K, et al. The lamin B receptor under transcriptional control of C/EBPepsilon is required for morphological but not functional maturation of neutrophils. 7 (2).Ĭohen TV, Klarmann KD, Sakchaisri K, Cooper JP, Kuhns D, Anver M, et al. Consequences of Lamin B1 and Lamin B Receptor Downregulation in Senescence. Domain-specific interactions of human HP1-type chromodomain proteins and inner nuclear membrane protein LBR. Ye Q, Callebaut I, Pezhman A, Courvalin JC, Worman HJ. Lamin B-receptor mutations in Pelger-Huët anomaly. The granulocyte nucleus and lamin B receptor: avoiding the ovoid. Hoffmann K, Sperling K, Olins AL, Olins DE. Lamin B Receptor: Interplay between Structure, Function and Localization. Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly). Homozygous form of the Pelger-Huët anomaly. ![]() Diagnostic significance of detecting pseudo-Pelger-Huët anomalies and micro-megakaryocytes in myelodysplastic syndrome. Kuriyama K, Tomonaga M, Matsuo T, Ginnai I, Ichimaru M. Historical perspective and clinical implications of the Pelger-Hüet cell. 17(19):2921-33.Ĭunningham JM, Patnaik MM, Hammerschmidt DE, Vercellotti GM. Cohen TV, Klarmann KD, Sakchaisri K, et al. ![]()
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