Abstract:
:This is the first report in the literature of siblings affected with Down syndrome; one sibling had a nondisjunction of chromosome 21 and the other a (21q;21q) translocation.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Der Kaloustian VM,Masri R,Khudr A,Talj F,Libbus B,Nabulsi M,Khouri FPdoi
10.1007/BF00273853subject
Has Abstractpub_date
1987-01-01 00:00:00pages
97issue
1eissn
0340-6717issn
1432-1203journal_volume
75pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::A family with five induced and seven spontaneous abortions and no live births is described. Four of the seven spontaneous abortuses were available for cytogenetic examination and three were successfully karyotyped. Their karyotypes were 46,XX; 46,XX/46,XX,t(2;2)(2p2p;2q2q); and 46,XY. The karyotypes of the parents wer...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00272305
更新日期:1978-01-19 00:00:00
abstract::The recent observations that Peroxisome proliferator activated receptor gamma coactivator 1 alpha (PGC1A) is responsible for the induction of reactive oxygen species (ROS) detoxifying agents and that ROS triggers insulin resistance, support the role that this gene could play in the onset of Type 2 diabetes mellitus (T...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-007-0352-0
更新日期:2007-06-01 00:00:00
abstract::The largest class of de novo chromosomal rearrangements in Down syndrome are rea(21q21q). Classically, these rearrangements have been termed Robertsonian translocations, implying an attachment of two different chromosome 21 homologues. Additionally, a Robertsonian translocation between two chromosomes 21 cannot be dis...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00201838
更新日期:1991-02-01 00:00:00
abstract::Von Hippel-Lindau (VHL) disease is a hereditary tumor syndrome characterized by predisposition for bilateral and multi-centric hemangioblastoma in the retina and central nervous system, pheochromocytoma, renal cell carcinoma, and cysts in the kidney, pancreas, and epididymis. We describe five families for which direct...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390000265
更新日期:2000-04-01 00:00:00
abstract::The family of diacylglycerol kinases (DAGKs) is known to play an important role in signal transduction linked to phospholipid turnover. In the fruitfly Drosophila melanogaster, a human DAGK ortholog, DGK2, was shown to underlie the phenotype of the visual mutant retinal degeneration A (rdgA). Previously, the gene enco...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050917
更新日期:1999-01-01 00:00:00
abstract::Five autosomal dominant craniosynostosis syndromes (Apert, Crouzon, Pfeiffer, Jackson-Weiss and Crouzon syndrome with acanthosis nigricans) result from mutations in FGFR genes. Fourteen unrelated patients with FGFR2-related craniosynostosis syndromes were screened for mutations in exons IIIa and IIIc of FGFR2. Eight o...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050348
更新日期:1997-02-01 00:00:00
abstract::Osteopetrosis is the result of mutations affecting osteoclast function. Careful analyses of osteopetrosis have provided instrumental information on bone remodeling, including the coupling of bone formation to bone resorption. Based on a range of novel genetic mutations and the resulting osteoclast phenotypes, we discu...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-008-0583-8
更新日期:2009-01-01 00:00:00
abstract::Starting from a group of 265 Italian patients affected with Duchenne or Becker muscular dystrophy a screening for duplications in the dystrophin gene was performed on 112 cases in which no deletions had previously been detected. The 21 intragenic duplications detected account for 7.9% of the total. Among these, one du...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF02272848
更新日期:1994-07-01 00:00:00
abstract::It is shown by discontinuous sodium dodecylsulfate (SDS) polyacrylamide gel electrophoresis of human red cell membranes, followed by periodic acid Schiff (PAS) staining and densitometry, that the band PAS-3 (monomeric Ss glycoprotein) exhibits a polymorphism with respect to its staining intensity. In membranes of the ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291494
更新日期:1976-05-19 00:00:00
abstract::In situ hybridization using a probe specific for the human ZFX and ZFY loci assigns the ZFX gene to Xp21.3 and the ZFY gene to Yp11.32. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00288279
更新日期:1989-04-01 00:00:00
abstract::It has been demonstrated that the genetic polymorphism of human serum orosomucoid (ORM) is controlled by polymorphic ORM1 and monomorphic ORM2 loci. In this study a Japanese family was encountered in which several members had puzzling electrophoretic patterns consisting of four bands. The ORM patterns were due to the ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00284480
更新日期:1987-11-01 00:00:00
abstract::Seven nucleotide sequence polymorphisms were detected within exons of the low-density lipoprotein (LDL) receptor gene using single-strand conformation polymorphism (SSCP) analysis followed by direct sequence analysis on amplified DNA. Four nucleotide changes at nucleotide positions 1617, 1725, 2232, and 2635 were new ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00216148
更新日期:1993-08-01 00:00:00
abstract::Results obtained so far on the C3 polymorphism suggest that the system should be a valuable marker in population studies. The instability of the complement component C3 may, however, cause some practical problems in population genetic fieldwork, since a certain fraction of serum samples may be difficult to type with c...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/BF00286844
更新日期:1976-08-30 00:00:00
abstract::A new mutant alpha-1-antichymotrypsin (variant ACT) was found by polymerase chain reaction single strand conformation polymorphism and direct sequencing. In this variant ACT, two bases (AA) were deleted from codon 391. This resulted in a different amino acid sequence downstream of the deletion point, elongating the pe...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00220480
更新日期:1992-12-01 00:00:00
abstract::Congenital tufting enteropathy (CTE) is a rare and severe enteropathy recently ascribed to mutations in the epcam gene. Here we establish SPINT2, previously ascribed to congenital sodium diarrhea, as a second gene associated with CTE and report molecular and immunohistochemistry data in 57 CTE patients. Inclusion crit...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-013-1380-6
更新日期:2014-03-01 00:00:00
abstract::Optic atrophy type 1 (OPA1, MIM 165500) is a dominantly inherited optic neuropathy that features low visual acuity leading in many cases to legal blindness. We have recently shown, with others, that mutations in the OPA1 gene encoding a dynamin-related mitochondrial protein, underlie the dominant form of optic atrophy...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-001-0633-y
更新日期:2001-12-01 00:00:00
abstract::Citrullinemia is an autosomal recessive disorder caused by a genetic deficiency of argininosuccinate synthetase (ASS). So far 20 mutations in ASS mRNA have been identified in human classical citrullinemia, including 14 single base changes causing missense mutations in the coding sequence of the enzyme, 4 mutations ass...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00191806
更新日期:1995-10-01 00:00:00
abstract::Haptoglobin types were determined on 211 patients with leukemia of the four most common types: acute lymphatic (ALL), chronic lymphatic (CLL), acute myeloid (AML), and chronic myeloid leukemia (CML). Frequency distributions of the three common Hp types in patients differed significantly from the control population. A ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00401236
更新日期:1986-07-01 00:00:00
abstract::The phenotype AK 3.3 in the isoenzyme system of human adenylate kinase has been found in two members of the Wayampi population of French Guiana. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278843
更新日期:1978-09-19 00:00:00
abstract::Investigation of lymphocyte cultures from three females heterozygous for fra(X)(q27) shows widely differing proportions of early and late replicating X chromosomes having the fragile site, and suggests that the replication status of the fragile X may be related to the mental capacity of the patient. The study has util...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00333538
更新日期:1982-01-01 00:00:00
abstract::Swiss albino male mice were administered two doses (1 and 2 HA units) of influenza A2 Hong Kong/68 virus IP. The incidence of chromosomal anomalies in spermatocytes was analysed at various times post infection and was found to be significantly higher than in controls, indicating that the influenza virus had induced th...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00286960
更新日期:1978-12-18 00:00:00
abstract::A new G6PD variant has been detected in a Cuban male and there is no evidence of associated hematological abnormalities. The main characteristics of this variant, moderate deficiency, slow electrophoretic mobility, increased utilization of the substrate analogues, and a different chromatographic behavior, indicate tha...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00329141
更新日期:1980-01-01 00:00:00
abstract::Hereditary hemochromatosis (HFE) is an inherited disorder whose gene lies in the proximity of the histocompatibility antigen (HLA) class I region, on 6p21.3. Despite efforts in refining the HFE region, a number of informative DNA markers, linked to the disease locus and amenable to use in an assay based on the polymer...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00208969
更新日期:1995-04-01 00:00:00
abstract::A 21-year-old girl with classical Prader-Willi Syndrome was found to have a 14;15 Robertsonian translocation--45,XX,t(14;15)(p11;q11). This type of Robertsonian translocation was not found in any patient from 8 surveys covering 6144 patients with mental retardation. Chromosome 15 has been involved in translocations in...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291777
更新日期:1980-01-01 00:00:00
abstract::A total of 15,387 individuals living in Hiroshima and Nagasaki, of whom 10,864 are unrelated, were examined for erythrocyte triosephosphate isomerase (TPI) by starch gel electrophoresis using TEMM buffer, pH 7.4. Four kinds of new variants, one having a cathodal migration and three having anodal migrations, were encou...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00279312
更新日期:1984-01-01 00:00:00
abstract::Most individuals with osteogenesis imperfecta (OI) are heterozygous for dominant mutations in one of the genes that encode the chains of type I collagen. Each of the more than 30 mutations characterized to date has been unique to the affected member(s) of the family. We have determined that two individuals with a prog...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF01213088
更新日期:1991-05-01 00:00:00
abstract::Hereditary paraganglioma type 1 (PGL1) is characterized by slow-growing and vascularized tumors that often develop in the carotid body (CB) and is caused by mutations in the gene for succinate dehydrogenase D ( SDHD) of mitochondrial complex II. The mechanisms of tumorigenesis and the factors affecting penetrance and ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-003-0969-6
更新日期:2003-08-01 00:00:00
abstract::Coffin-Siris syndrome (CSS) and Nicolaides-Baraitser syndrome (NCBRS) are rare intellectual disability/congenital malformation syndromes that represent distinct entities but show considerable clinical overlap. They are caused by mutations in genes encoding members of the BRG1- and BRM-associated factor (BAF) complex. ...
journal_title:Human genetics
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1007/s00439-015-1535-8
更新日期:2015-06-01 00:00:00
abstract::A group of small peptides with a typical cysteine-rich domain (termed trefoil motif or P-domain) is abundantly expressed at mucosal surfaces of specific normal and neoplastic tissues. Their association with the maintenance of surface integrity was suggested. The first known human trefoil peptide (pS2) was isolated fro...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050198
更新日期:1996-08-01 00:00:00
abstract::Three children with hyperphenylalaninaemia and hyperphenylalaninaemic mothers are presented. At least one of the affected children was a compound heterozygote for hyperphenylalaninaemia and phenylketonuria. The families were examined by an L-phenylalanine loading test, by direct determination of phenylalanine hydroxyl...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291569
更新日期:1984-01-01 00:00:00