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Journal de genetique humaine最新文献

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[The bases of genetic therapy]. [基因治疗的基础]。
Journal de genetique humaine Pub Date : 1989-12-01
B R Jordan
{"title":"[The bases of genetic therapy].","authors":"B R Jordan","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 4-5","pages":"283-8"},"PeriodicalIF":0.0,"publicationDate":"1989-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13839559","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Animal models of gene therapy]. [基因治疗的动物模型]。
Journal de genetique humaine Pub Date : 1989-12-01
P Briand
{"title":"[Animal models of gene therapy].","authors":"P Briand","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Somatic gene therapies are based on the introduction of genes in somatic cells in an attempt to correct a gene defect, to induce a resistance or to add a particular activity. In their principle, they are not very different from organ grafts and do not set specific ethic problems. Their application to human therapy has to be subjected to a critical evaluation of their harmlessness and efficiency. For this purpose, animal models of somatic gene therapy are essential. Such therapy have been tried in bone marrow and endothelial cells, in fibroblasts, keratinocytes hepatocytes, but also by direct transfer of genes in the organism. These different approaches are briefly reviewed and compared in this article.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 4-5","pages":"289-97"},"PeriodicalIF":0.0,"publicationDate":"1989-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13839560","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Linkage disequilibrium and DNA markers associated with the gene for cystic fibrosis]. [连锁不平衡和与囊性纤维化基因相关的DNA标记]。
Journal de genetique humaine Pub Date : 1989-12-01
C Ferec, C Verlingue, P Parent
{"title":"[Linkage disequilibrium and DNA markers associated with the gene for cystic fibrosis].","authors":"C Ferec,&nbsp;C Verlingue,&nbsp;P Parent","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>R.F.L.P. (Restriction Fragment Length Polymorphism) observed with tightly linked probes to the CF gene allows us to calculate the standardised linkage disequilibrium between CF and these markers. This approach in combination with others strategies permits to situate the gene between D9 and G2. The conditional probabilities observed with these haplotypes modify the classical genetic of CF.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 4-5","pages":"407-23"},"PeriodicalIF":0.0,"publicationDate":"1989-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13778386","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Microencephalic nanism, severe retardation, hypertonia, obesity, and hypogonadism in two brothers: a new syndrome?]. [两兄弟的小脑症、严重发育迟缓、高张力、肥胖和性腺功能减退:一种新综合征?]
Journal de genetique humaine Pub Date : 1989-12-01
C D Delozier-Blanchet, C A Haenggeli, E Engel
{"title":"[Microencephalic nanism, severe retardation, hypertonia, obesity, and hypogonadism in two brothers: a new syndrome?].","authors":"C D Delozier-Blanchet,&nbsp;C A Haenggeli,&nbsp;E Engel","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Two brothers are described with a severe syndrome of postnatal growth and mental retardation which includes extreme microcephaly, obesity developing during infancy, microgonadismsm, and a characteristic amphora-shaped facies. The neurological exam is highly abnormal, with hypertonia and hyperreflexia, nystagmus, and an extremely irritable and agitated behavior. The first child, who died at 4/1/2 years, also presented neonatal hypoglycemia and chronic constipation. Although the etiology of this syndrome is unknown, it is tempting to consider an X-linked recessive gene, given the importance of the X chromosome in mental retardation. Among the over 70 syndromes of X-linked mental retardation already described, our patients resemble individuals with the Börjeson-Forssman-Lehmann (BFL) syndrome the most. However, the severity of their dwarfism and mental retardation is much greater than described in any BFL patient to date, and the neurological and dysmorphic features vary significantly from those described in the BFL. Although a particularly severe variant, perhaps allelic, is a possibility, an as yet undescribed disorder is also plausible, the etiology of which would probably be recessive, either autosomal or X-linked.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 4-5","pages":"353-65"},"PeriodicalIF":0.0,"publicationDate":"1989-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13778380","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Ultrasonic prenatal diagnosis of the Jarcho-Levin syndrome]. [超声产前诊断Jarcho-Levin综合征]。
Journal de genetique humaine Pub Date : 1989-12-01
S Lenoir, M Rolland, M F Sarramon, S Degoy, Y Dinguirard, C Regnier
{"title":"[Ultrasonic prenatal diagnosis of the Jarcho-Levin syndrome].","authors":"S Lenoir,&nbsp;M Rolland,&nbsp;M F Sarramon,&nbsp;S Degoy,&nbsp;Y Dinguirard,&nbsp;C Regnier","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The Jarcho-Levin syndrome is an autosomal recessive disease characterized by spinal and rib malformations (spondylocostal dysplasia). The case reported concerns a fetus with a dorsal spine angulation noted at the 15th week of gestation. A more accurate ultrasound study performed at 20 weeks revealed shortness of the neck and thorax, irregular ribs and vertebrae and absence of other visceral abnormalities. The karyotype was normal. Therapeutic abortion proposed was finally accepted by both parents at 27 weeks. The diagnosis was confirmed by post mortem radiography. No parental consanguinity was noted.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 4-5","pages":"425-30"},"PeriodicalIF":0.0,"publicationDate":"1989-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13839562","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Nanism with short limbs, dysmorphism, renal dysplasia, growth hormone deficiency with pituitary hypoplasia and psychomotor delay: a new syndrome?]. 【四肢矮小、畸形、肾发育不良、生长激素缺乏伴垂体发育不全、精神运动迟缓:一种新综合征?】
Journal de genetique humaine Pub Date : 1989-12-01
C Elmer, G Van Vliet, C Heinrichs, M Toppet, C Christophe, N Perlmutter-Cremer, E Vamos
{"title":"[Nanism with short limbs, dysmorphism, renal dysplasia, growth hormone deficiency with pituitary hypoplasia and psychomotor delay: a new syndrome?].","authors":"C Elmer,&nbsp;G Van Vliet,&nbsp;C Heinrichs,&nbsp;M Toppet,&nbsp;C Christophe,&nbsp;N Perlmutter-Cremer,&nbsp;E Vamos","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The authors present the case of a male infant affected with short limbed dwarfism already detected in utero by ultrasound. In addition, facial dysmorphism, bilateral hypoplasia and dysplasia of the kidneys with altered renal function, hypotonia and non-evolutive developmental delay are noted. Endocrine tests show a severe and isolated growth hormone deficiency. Metabolic investigations are negative, including peroxisomal functions. Prometaphase chromosomes are normal. Bone x-rays reveal generalized osteoporosis with absence of post-natal osseous maturation and the presence of wormian bones. Major pituitary hypoplasia is demonstrated by nuclear magnetic resonance. The present observation is compared to the case reported by Stratton & Parker (Am. J. Med. Genet., 1989, 32, 169-173). Available data do not allow either to affirm or to exclude the identity of the syndromes presented by these 2 isolated cases.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 4-5","pages":"367-72"},"PeriodicalIF":0.0,"publicationDate":"1989-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13778381","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Frontonasal dysplasia or the median cleft face syndrome: a case report]. 额鼻发育不良或正中裂脸综合征1例。
Journal de genetique humaine Pub Date : 1989-12-01
H Apere, F Serville, B Collet, C Billeaud, B Sandler
{"title":"[Frontonasal dysplasia or the median cleft face syndrome: a case report].","authors":"H Apere,&nbsp;F Serville,&nbsp;B Collet,&nbsp;C Billeaud,&nbsp;B Sandler","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Frontonasal dysplasia (FND) is a condition with a more or less severe ocular hypertelorism and, sometimes, a narrowing of the palpebral fissures. The nose is broad and flattened with clefting; it may be bifid or completely divided in two halves. In extreme cases, the central nervous system is concerned and there is a mental deficiency. There is no coronal craniosynostosis in pure FND. Other malformations can be observed. Among the cases reported in the literature, most of them are sporadic but they may be familial. We report here a sporadic case of F.N.D. in which scan examination of the brain shows a possible cephalocele. The literature is briefly reviewed.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 4-5","pages":"431-6"},"PeriodicalIF":0.0,"publicationDate":"1989-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13778387","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Genetic mapping of chromosome X: known localizations]. [染色体X的遗传作图:已知定位]。
Journal de genetique humaine Pub Date : 1989-12-01
C Verellen-Dumoulin
{"title":"[Genetic mapping of chromosome X: known localizations].","authors":"C Verellen-Dumoulin","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>To be a linkage between the clinician and the molecular biologist is the aim of this paper. All the known genes on the X chromosome are usually reported in most of the human gene mapping catalogs. Here, X-linked diseases precisely mapped on the X chromosome are classified by systems. Gene mapping of the phenotypes is given for each system.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 4-5","pages":"321-51"},"PeriodicalIF":0.0,"publicationDate":"1989-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13839561","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
["Genetic emergencies" in a pediatric intensive care service]. [儿科重症监护服务的“基因紧急情况”]。
Journal de genetique humaine Pub Date : 1989-12-01
S Odent, P Betremieux, G Defawe, C Lefrançois, B Le Marec
{"title":"[\"Genetic emergencies\" in a pediatric intensive care service].","authors":"S Odent,&nbsp;P Betremieux,&nbsp;G Defawe,&nbsp;C Lefrançois,&nbsp;B Le Marec","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Case histories from the pediatric reanimation department (intubated children of 0 to 15) and neonatology of Renne's hospital are reviewed for the years 1987 and 1988. Among 1.555 admissions (486 in reanimation, 1069 in neonatology), 63, that is 4%, concerned the clinical geneticist. The distribution may be done in 32 malformations and genetic syndromes, 8 chromosomal defects, 6 neuro-muscular diseases, 6 metabolic diseases, 3 cystic fibrosis, 3 spina bifida, 5 varied diseases. The advice of the genetic counsellor was requested 8 times for an urgent case, and to arrive at a decision about a reanimation, 7 times before the death of a patient for the management of diagnostic techniques: biopsy, blood or urines sent to a specialized center.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 4-5","pages":"311-4"},"PeriodicalIF":0.0,"publicationDate":"1989-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13778379","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Paroxysmal intracranial hypertension and oculoauriculovertebral dysplasia. 阵发性颅内高压和眼耳椎发育不良。
Journal de genetique humaine Pub Date : 1989-12-01
R C Hennekam, O Van Nieuwenhuizen, R H Gooskens
{"title":"Paroxysmal intracranial hypertension and oculoauriculovertebral dysplasia.","authors":"R C Hennekam,&nbsp;O Van Nieuwenhuizen,&nbsp;R H Gooskens","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 4-5","pages":"437-8"},"PeriodicalIF":0.0,"publicationDate":"1989-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13778341","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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