Abstract:
:With philatelic illustrations, we review sickle cell anemia, some of the common hemoglobinopathies, and their relevance to malaria. We discuss the mechanism by which hemoglobinopathies arise, the progress made with pre-natal screening, as well as innovative therapies. We review recent developments in the pathophysiology of malaria and discuss innovations in the effort against this parasite.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Richer J,Chudley AEdoi
10.1111/j.1399-0004.2005.00503.xsubject
Has Abstractpub_date
2005-10-01 00:00:00pages
332-6issue
4eissn
0009-9163issn
1399-0004pii
CGE503journal_volume
68pub_type
杂志文章,评审abstract::An abnormality of chromosome 16 in which there is extra genetic material present on the short arm (46,XY, 16p+) has been identified. This chromosomal aberration was associated with multiple congenital anomalies, including mid-facial hypoplasia, arthrogryposis, and mental retardation. On the basis of the cytogenetic ap...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1981.tb00665.x
更新日期:1981-01-01 00:00:00
abstract::Arrhythmogenic cardiomyopathy (ACM) is a familial cardiomyopathy featured by fibrofatty replacement of cardiomyocytes. Responsible genetic factors are not discernible in approximately one-third of ACM probands. To investigate this further, we performed whole genome sequencing in 14 mutation-negative ACM probands who u...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13642
更新日期:2019-12-01 00:00:00
abstract::We report the analysis of altogether 1050 suspected hereditary breast/ovarian cancer (HBOC) families, 524 fully screened for BRCA1/BRCA2 mutations and 526 tested only for the most common mutations. Of the 119 families with pathogenic mutations, 40 (33.6%) had the BRCA2 c.156_157insAlu rearrangement and 15 (12.6%) the ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12441
更新日期:2015-07-01 00:00:00
abstract::To evaluate whether the CF carrier status has any lasting effect on anxiety and on self-concept at least 1 year after the disclosure of the test result, an in-depth interview and additional psychological tests were administered in a group of adults who participated in a previous study which suggested a slight stigmati...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1996.tb03779.x
更新日期:1996-05-01 00:00:00
abstract::Depression during pregnancy can have serious consequences for families. Indications of fetal aneuploidy can induce maternal stress, a risk factor for depression. Few studies have assessed symptoms of depression in pregnant women soon after they receive results indicating increased risk for fetal aneuploidy. We compare...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2008.01056.x
更新日期:2009-01-01 00:00:00
abstract::Two unrelated children with partial deletion of the long arm of a chromosome no. 5 are reported. The boy presented with severe hypotonia, developmental delay, and a few minor defects of the face including frontal bossing, antimongoloid slant of the palpebral fissures, depressed nasal bridge and bilateral epicanthal fo...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1981.tb00692.x
更新日期:1981-03-01 00:00:00
abstract::A family ascertained in the United States displays significant evidence of linkage to 17q25.3 (maximum two-point LOD score 6.32). The non-syndromic autosomal-dominant hearing-loss loci DFNA20 and DFNA26 map to this region. The 3-unit support interval and haplotype for this USA kindred falls within the interval for DFN...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.2003.630106.x
更新日期:2003-01-01 00:00:00
abstract::An emerging challenge facing those who are concerned about the efficacy of public health programs is to understand how information from the DNA revolution might be used to improve our ability to predict the initiation, progression and severity of a common disease having a complex multifactorial etiology. In the course...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/j.1399-0004.1994.tb04196.x
更新日期:1994-07-01 00:00:00
abstract::The ability or inability to taste the compound phenylthiocarbamide (PTC) is a classic inherited trait in humans and has been the subject of genetic and anthropological studies for over 70 years. This trait has also been shown to correlate with a number of dietary preferences and thus may have important implications fo...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/j.1399-0004.2004.00361.x
更新日期:2005-04-01 00:00:00
abstract::Debate continues as to why executive function (EF) continues to show impairments in children with early and continuously treated phenylketonuria (ECT-PKU). Using a mixed model, we measured EF in 10 adolescent children with ECT-PKU and 6 sibling controls, and examined associations between EF and (1) phenylalanine (phe)...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2008.01101.x
更新日期:2009-02-01 00:00:00
abstract::Adverse drug reactions, due at least in part to interindividual variability in drug response, rank between the 4th and 6th leading causes of death in the USA. The field of 'pharmacogenetics', which is 'the study of variability in drug response due to heredity', should help in reducing drug-caused morbidity and mortali...
journal_title:Clinical genetics
pub_type: 历史文章,杂志文章,评审
doi:10.1034/j.1399-0004.1999.560401.x
更新日期:1999-10-01 00:00:00
abstract::Endothelin is a peptide reported to be one of the most potent vasoconstrictors known. Presumably, endothelin could play a role in the physiological regulation of blood pressure in healthy or hypertensive people. We have studied a normal restriction fragment length polymorphism (RFLP) at the endothelin-I (EDN1) locus d...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1992.tb03640.x
更新日期:1992-02-01 00:00:00
abstract::Three siblings with a combination of sensorineural deafness and the Charcot-Marie-Tooth syndrome have been investigated in a consanguineous Indian kindred. This syndrome, which to the best of our knowledge has not previously been reported, is probably inherited as an autosomal recessive trait. ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1984.tb00479.x
更新日期:1984-02-01 00:00:00
abstract::Complex microphthalmia is characterized by small eyes with additional abnormalities that may include anterior segment dysgenesis. While many genes are known, a genetic cause is identified in only 4-30% of microphthalmia, with the lowest rate in unilateral cases. We identified four novel pathogenic loss-of-function all...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13897
更新日期:2020-12-13 00:00:00
abstract::In a clinical setting diagnosis, heritability, risk and outcome of human disease rely heavily on the use of markers present in specific tissues. In the past decade, the development of genome-wide, non-hypothesis driven methods to identify molecular markers associated with disease have led to the discovery of numerous ...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/j.1399-0004.2011.01840.x
更新日期:2012-04-01 00:00:00
abstract:BACKGROUND:Mutations in the DNAJB6 gene have been identified as a rare cause of dominantly inherited limb-girdle muscular dystrophy or distal-onset myopathy. MATERIALS AND METHODS:Exome sequencing was performed to investigate a Taiwanese family with a dominantly inherited distal-onset myopathy. Functional effects of t...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13001
更新日期:2017-08-01 00:00:00
abstract::Neurodevelopmental and psychological aspects in a child with 49XYYYY karotype are described. The developmental examination revealed mild mental retardation (I.Q.=50), disturbances in gross and fine motor development and speech disorders. The child was treated by developmental therapy which improved his abilities for a...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1986.tb01913.x
更新日期:1986-12-01 00:00:00
abstract::We describe the results of the multidisciplinary evaluation in patients with Fabry disease and the same genetic mutation and their outcomes using different approved enzyme replacement therapy (ERT). We measured baseline data and serial results of neuropathic pain assessment and renal, cardiac and cerebrovascular funct...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12590
更新日期:2016-01-01 00:00:00
abstract::During an investigation of cousin marriages in Iceland, five brothers and sisters were found to be homozygous for the "silent" allele of plasma cholinesterase. Clinical information on two family members is presented and discussed, and the possibility of the presence of a "nearly silent" plasma esterase allele, in one ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1975.tb00349.x
更新日期:1975-05-01 00:00:00
abstract::Long QT syndrome (LQTS) is the prototype of the cardiac ion channelopathies which cause syncope and sudden death. LQT1, due to mutations of KCNQ1 (KVLQT1), is the most common form. This study describes the genotype-phenotype characteristics in 10 families with mutations of KCNQ1, including 5 novel mutations. One hundr...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.2003.00048.x
更新日期:2003-04-01 00:00:00
abstract::Approximately one in 500 individuals in Western population has autosomal dominant familial hypercholesterolemia due to mutations in the low-density lipoprotein receptor (LDLR) gene. Screening for these mutations is hampered by their large number, except in founder populations. We identified the breakpoint of the >15 k...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.0009-9163.2004.00223.x
更新日期:2004-03-01 00:00:00
abstract::In order to evaluate the involvement of the peripheral autonomic nervous system in the pathogenesis of type 1 familial amyloid polyneuropathy, the urinary excretion rates of catecholamines and serum dopamine-beta-hydroxylase (DB/) activity were examined in 22 patients at various clinical stages. Changes in both indice...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1979.tb00860.x
更新日期:1979-08-01 00:00:00
abstract::This paper reports on an investigation into the differences in image quality of different components used in a digital image processing system for chromosome analysis. As chromosome aberrations are important tools in the cloning of genes, it is important to know if the introduction of computerized analysis systems inc...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1995.tb04096.x
更新日期:1995-11-01 00:00:00
abstract::Karyotype and DNA analyses using DNA probes were carried out in a family with the Cohen syndrome. Two affected brothers had normal chromosomal constitutions. A major deletion or duplication of genomic DNA fragments hybridized with the DNA probes, pML34 at D15S9 locus and pTD3-21 at D15S10 locus, assigned on 15q11-q12 ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1990.tb03607.x
更新日期:1990-12-01 00:00:00
abstract::We have performed cytogenetic and molecular analyses of 45,X mosaics involving structurally abnormal Y chromosomes. Karyotypes were performed by standard cytogenetic methods and, in some cases, by fluorescence in situ hybridization, to distinguish monocentric and dicentric chromosomes. In addition, the deletions of Yq...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.2000.570408.x
更新日期:2000-04-01 00:00:00
abstract::The cytogenetic analysis of an infant with multiple congenital anomalies revealed a small deletion of the long arm of one No. 11 chromosome: 46,XX,del(11)(q23). The main clinical manifestations included: ocular colobomata, absent philtrum, severe congenital heart disease, contractures of the large joints and skin pigm...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1977.tb00950.x
更新日期:1977-12-01 00:00:00
abstract:BACKGROUND:Alterations in GFER gene have been associated with progressive mitochondrial myopathy, congenital cataracts, hearing loss, developmental delay, lactic acidosis and respiratory chain deficiency in 3 siblings born to consanguineous Moroccan parents by homozygosity mapping and candidate gene approach (OMIM#6130...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12985
更新日期:2017-08-01 00:00:00
abstract::The Marden-Walker syndrome is characterized by psychomotor retardation, a mask-like face with blepharophimosis, micrognathia and a high-arched or cleft palate, low-set ears, kyphoscoliosis and joint contractures. We report on a male patient with the clinical features of the syndrome. In addition, he had a Dandy-Walker...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/j.1399-0004.1993.tb03823.x
更新日期:1993-06-01 00:00:00
abstract::This paper presents a female patient with a clinical picture of gonadal dysgenesis and the chromosome constitution with a monocentric isochromosome of one X and a marker chromosome 21 with deleted short arm. The proband's father and other members of the family suffered from Huntington's chorea and each of them possess...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1984.tb00467.x
更新日期:1984-01-01 00:00:00
abstract::Kidney and urinary tract malformations are among the most frequent developmental defects identified in newborns. Ranging from asymptomatic to neonatal lethal, these malformations represent an important clinical challenge. Recent progress in understanding the developmental origin of urinary tract defects in the mouse a...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/j.1399-0004.2009.01175.x
更新日期:2009-04-01 00:00:00