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排序方式: 共有439条查询结果,搜索用时 15 毫秒
1.
A. Richieri-Costa M. L. Guion-Almeida 《American journal of medical genetics. Part A》1993,47(5):702-706
We report on 2 unrelated Brazilian girls, born to nonconsanguineous parents, and presenting structural central nervous system defects, hydrocephaly, macrocephaly, craniosynostosis, prominent forehead, anophthalmia, and abnormal nares. These patients may have a previously undescribed recurrent-pattern cerebro-oculo-nasal syndrome. © 1993 Wiley-Liss, Inc. 相似文献
2.
Monoclonal antibodies against human granulocytes and myeloid differentiation antigens 总被引:4,自引:0,他引:4
Patrice Mannoni Anna Janowska-Wieczorek A. Robert Turner Locksley McGann Jean-Michael Turc 《Human immunology》1982,5(4):309-323
Monoclonal antibodies (MCA) were obtained by immunizing BALB/c mice with 99% pure granulocytes from normal donors or with a whole leukocyte suspension obtained from a chronic myelogenous leukemia (CML) patient, and then fusing the mouse spleen cells with a 315–43 myeloma cell clone. Four MCA were selected and studied using ELISA, immunofluorescence, cytotoxicity assays, and FACS analysis. Antibodies 80H.1. 80H.3. and 80H.5 (from normals) and 81H.1 (from CML) detected antigens expressed on neutrophils. Antibodies 80H.1 and 80H.3 (lgG) also reacted with monocytes but not with other blood cell subsets. Antibodies 80H.5 and 81H.1 (lgM) were cytotoxic and reacted strongly with most of the cells of the neutrophil maturation sequence. i.e., myeloblasts, promyelocytes, myelocytes, and mature granulocytes. Antibodies 80H.5 and 81H.1 also inhibited BFU-GM and CFU-E. Antigens recognized by 80H.3. 80H.5, and 81H.1 were expressed both on a proportion of cells from HL.60, KG.1, ML.1, and K562 myeloid cell lines, and on a proportion of blast cells isolated from patients with acute myelogenous leukemia. They were not found on lymphoid cell lines or lymphoid leukemia cells. These MCA recognize either late differentiation antigens expressed on mature neutrophils and monocytes (80H.1 and 80H.3) or early differentiation antigens (80H.5 and 81H.1) specific to the granulocytic lineage. They may be useful for a better definition of those antigens specific to hematopoietic stem cells and their relationship with normal or neoplastic hematopoiesis. 相似文献
3.
Anita S. Kulharya Mark Maberry Mary K. Kukolich Donald W. Day Nancy R. Schneider Golder N. Wilson Vijay Tonk 《American journal of medical genetics. Part A》1995,55(2):165-170
We describe clinical and chromosomal findings in two patients with del(4q). Patient 1, with interstitial deletion (4)(q21.1q25), had craniofacial and skeletal anomalies and died at 8 months of hydrocephalus. Patient 2, with interstitial deletion (4)(q25q27), had craniofacial and skeletal anomalies with congenital hypotonia and developmental delay. These patients shared certain manifestations with other del(4q) patients but did not have Rieger anomaly. Clinical variability among patients with interstitial deletions of 4q may be related to variable expression, variable deletion, or imprinting of genes within the 4q region. © 1995 Wiley-Liss, Inc. 相似文献
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6.
Sonia Ehrlich Tania Bustos Inder J. Paika Aubrey Milunsky John M. Opitz 《American journal of medical genetics. Part A》1983,15(2):261-263
Some variation in the phenotype of patients with dup(18q) is recognized. Our patient has the phenotype described for dup(18qter). 相似文献
7.
Summary We report on a sporadic case satisfied with a proposed diagnostic criteria for Cohen syndrome. This 10 year-old Japanese boy
had truncal obesity, short stature, mild mental retardation, hypotonia, maxillary hypoplasia, micrognathia, narrow hands and
feet, high-arched palate, prominent upper central incisors, high nasal bridge, but no pigmentary retinopathy. Autosomal recessive
manner of inheritance was suggested by the pedigree. 相似文献
8.
Dvorak Abeliovich Esther Maor Nava Bashan Rivka Carmi 《American journal of medical genetics. Part A》1989,32(3):346-349
We report on three patients with duplication of distal 22q. One patient is a de novo carrier of the translocation t(21;22) (p13;q11), the other two are offspring of a translocation carrier t(10;22) (q26;q12). The clinical manifestations of these patients demonstrate the variability of the dup(22q) syndrome. 相似文献
9.
Roger A. Williamson Michael A. Donlan Cynthia R. Dolan Horace C. Thuline Mary T. Harrison Judith G. Hall John M. Opitz 《American journal of medical genetics. Part A》1981,9(2):105-111
The use of elongated prophase and prometaphase chromosome preparations has allowed detection of an insertion of a small segment of 3q into 11q in a kindred with 4 balanced carriers and 8 unbalanced offspring. Those with partial 3q deletion have a true multiple congenital anomalies/mental retardation (MCA/MR) syndrome with an appearance suggestive of the Schwartz-Jampel syndrome. 相似文献
10.
Receptor tyrosine kinase tie 1 mRNA is upregulated on cerebral microvessels after embolic middle cerebral artery occlusion in rat 总被引:2,自引:0,他引:2
Tie 1 is an endothelial specific transmembrane receptor tyrosine kinase and may be required during angiogenesis. Using in situ hybridization, we measured tie 1 mRNA in ischemic brain (n=15). Rats were subjected to middle cerebral artery (MCA) occlusion by a single fibrin rich clot. Expression of tie 1 was not detected in non ischemic brain. Cerebral microvessels expressed tie 1 in the ischemic lesion as early as 2 h after MCA occlusion. The number of microvessels containing tie 1 mRNA decreased in the ischemic lesion at 8 h after MCA occlusion. However, expression of tie 1 increased on microvessels at 24 h and 14 days after ischemia and tie 1 was primarily localized to the microvessels bordering pan necrotic tissue. Ninety-seven percent of cerebral vessels which expressed tie 1 mRNA had diameters of 3.7+/-0.17 microm. Our findings suggest a role for tie 1 in cerebral microvascular remodeling after embolic stroke. 相似文献