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10篇 您的检索式：作者名="PISSARD"

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		题名	作者	年代	出处	被引量
	1	Hydroxyuea can eliminate transfusion requirements in children with severe beta-thalassemia显示文摘	Bradai M Abad MT Pissards	2003	Blood2003，102，4：	1
	2	Hydroxyurea can eliminate transfusion requirements in children with severe β-thalassemia 显示文摘	Bradai M Abad MT Pissard S	2003	Blood2003，12，4：	1
	3	Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutations 显示文摘	Pissard S Max-Audit I Skopinski L	2006	Br J Haematol2006，133，6：	1
	4	Hy- droxyurea can eliminate transfusion requi- rements in children with severeβ-thalasse- mia显示文摘	Bradai M Abad MT Pissard S		Blood0，102，4：	1
	5	Hydroxyurea can eliminate transfusion requirements in children with severe β-thalassemia 显示文摘	Bradai M Abad MT Pissard S	2003	Blood2003，12，4：	1
	6	Hydroxyurea can eliminate transfusion requirements in children with severe b -thalassemia显示文摘	Bradai M Abad MT Pissard S	2003	Blood2003，102，4：	1
	7	A preliminary study of genetics Diversity of Bolivian oca(Oxalis tuberosa Mol)varieties maintained in situ and ex situ through the utilization of ISSR molecular markers显示文摘	MARIE MAILCE NICOLAS MARTIN AUDREY PISSARD		0，，：	1
	8	Hydroxyurea can eliminate transfusion requirements in children with severe beta thalassemia显示文摘	Bradai M Abad MT Pissard S	1997	Blood1997，89，3：	1
	9	One-step real-time PCR assay for rapid prenatal diagnosis of sickle cell disease and detection of maternal contamination显示文摘	Costa C Pissard S Girodon E	2003	Mol Diagn2003，7，1：	1
	10	弹力纤维性假黄瘤中血红素A2水平增加(法语)显示文摘Background. Pseudoxanthoma elasticum (PXE) is normally associated with mutations in the ABCC6 gene. A PXE phenotype without mutations in ABCC6 has been described in Greek and Italian patients presenting with beta thalassemia. We attempted to determine the incidence of beta thalassemia in a cohort of French patients with PXE. Patients and methods. Fifty patients with PXE were included in the study. Laboratory examinations comprised hemoglobin electrophoresis, ABCC6 gene study and in some studies: mutation analysis, beta-globin gene. Results. No cases of beta thalassemia were diagnosed in this cohort of French patients with PXE. However, 20%of the latter exhibited a significant but isolated (i.e. without microcytic anemia) increase of hemoglobin A2 (HbA2). Statistical comparisons showed no difference in terms of geographical origin or severity of PXE between patients with high levels of HbA2 and those with normal levels of HbA2 other than the extent of cutaneous involvement. Study of the beta-globin gene displayed mutations only in the two patients with the highest recorded levels of HbA2. ABCC6 +beta-globin digenism was ruled out of the pathogenesis of PXE. Discussion. The PXE phenotype seen in some patients with beta thalassemia appears to be associated with epigenetic modification of ABCC6 transcription and depends specifically on the beta globin locus. Isolated increase in HbA2 is probably a laboratory marker for PXE. Here again, a functional epigenetic reaction between ABCC6 and the beta-globin locus was suspected. However, these reciprocal interactions are clearly unequal since the change in ABCC6 transcription occurring during the course of beta thalassaemia is responsible for a phenotype while increased HbA2 during the course of PXE has no clinical consequences.	Martin L. Pissard S. Blanc P. 任建文	2006	世界核心医学期刊文摘(皮肤病学分册)2006，，12：	0

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