Abstract：
:An African American male of West Indies descent was diagnosed to have elevated transferrin saturation, hyperferritinemia, severe iron deposition in hepatocytes, and hepatic cirrhosis at age 4. He was treated with serial phlebotomy to maintain a normal serum ferritin concentration thereafter. We evaluated him at age 23 and confirmed that he had normal serum ferritin levels, severe iron deposition in hepatocytes, hepatic cirrhosis, and portal hypertension. He did not have endocrinopathy, cardiomyopathy, or arthropathy. He was homozygous for the novel hemojuvelin (HJV) premature stop-codon mutation R54X (exon 3; c.160A-->T). He did not have either HFE C282Y, H63D, or S65C, or deleterious coding region mutations of SLC40A1, TFR2, or HAMP. His erythrocyte measures and hemoglobin electrophoresis were consistent with alpha-thalassemia trait. We conclude that homozygosity for HJV R54X accounts for his severe, early age-of-onset hemochromatosis; his phenotype was probably modified by serial phlebotomy therapy.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Murugan RC,Lee PL,Kalavar MR,Barton JCdoi
10.1111/j.1399-0004.2008.01017.xsubject
Has Abstractpub_date
2008-07-01 00:00:00pages
88-92issue
1eissn
0009-9163issn
1399-0004pii
CGE1017journal_volume
74pub_type
杂志文章abstract：:Marinesco-Sjøgren syndrome and hypergonadotropic hypogonadism were observed in two kindreds, and they were found to occur togetherin 9 out of 10 affected individuals. The last patient had Marinesco-Sjøgren syndrome without manifestations of hypogonadism, and similar findings were observed in two affected sisters from ...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1977.tb01279.x
更新日期：1977-01-01 00:00:00
abstract：:A set of 15 surface measurements taken directly from the craniofacial region were determined in 51 patients with Waardenburg syndrome type I (WSI). A roentgencephamometric analysis including 20 linear dimensions was also performed by the use of cephalograms of 28 patients. Pairs between patients and controls of the sa...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1993.tb03836.x
更新日期：1993-07-01 00:00:00
abstract：:A de novo supernumerary small marker chromosome 15 was observed in a female infant with mental and statomotoric retardation as well as minor facial dysmorphia. The marker chromosome was analyzed by ten different staining techniques and 5-azacytidine treatment of lymphocyte cultures. It is shown that the supernumerary ...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1986.tb00570.x
更新日期：1986-07-01 00:00:00
abstract：:A boy with Prader-Willi syndrome was found to have an inversion of chromosome 15,[46,XY,inv(15)(p13q13)]. His unaffected father has an apparently identical inversion of chromosome 15 but in addition has a number 14 chromosome with double satellites. This report supports previous indications of a relationship between a...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1983.tb00104.x
更新日期：1983-12-01 00:00:00
abstract：:Growth retardation is a relatively consistent feature of Noonan syndrome but a standardized growth curve for height has never been calculated. Analysis of retrospective growth data on 112 patients with Noonan syndrome has permitted the establishment of preliminary reference growth standards for height for males and fe...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1986.tb00587.x
更新日期：1986-09-01 00:00:00
abstract：:Sanfilippo syndrome (mucopolysaccharidosis type III) is the commonest mucoploysaccharidosis. It causes neurodegeneration with often profound sleep and behavioral disturbance. Management of the sleep disturbance is difficult and inconsistent. In this study, we surveyed clinicians with particular expertise in the manage...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1034/j.1399-0004.2002.620512.x
更新日期：2002-11-01 00:00:00
abstract：:In 100 children with Down syndrome (DS), the parental origin of the supernumery chromosome 21 was investigated. In 76 out of the 100 cases the polymorphic regions were informative, i.e. the nondisjunction could be traced. Assessment of the alpha 1-antitrypsin/alpha 1-protease inhibitor (PI) types in these DS children ...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1981.tb01037.x
更新日期：1981-10-01 00:00:00
abstract：:The basic science and development of therapies targeting the blood vascular system has enjoyed much focus due to the knowledge of the molecular mechanisms behind its development and roles in disease. However, the closely associated lymphatic system, while also being responsible for a number of serious and debilitating...
journal_title：Clinical genetics
pub_type： 杂志文章,评审
doi：10.1034/j.1399-0004.2003.00152.x
更新日期：2003-10-01 00:00:00
abstract：:RUNX2 (Runt-related transcription factor 2) is a master regulator of osteoblast differentiation, cartilage and bone development. Pathogenic variants in RUNX2 have been linked to the Cleidocranial dysplasia (CCD), which is characterized by hypoplasia or aplasia of clavicles, delayed fontanelle closure, and dental anoma...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/cge.13610
更新日期：2019-11-01 00:00:00
abstract：:HLA-A and -B alleles in 74 Danish patients and 21 homozygous relatives with idiopathic haemochromatosis (IH) were compared with those in a sample of 1719 chromosomes from healthy Danish control subjects. The following alleles occurred with higher frequencies in IH compared to controls: A3: 53.6% vs. 15.1% (Pc less tha...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1992.tb03619.x
更新日期：1992-01-01 00:00:00
abstract：:Three children with deletions of the terminal portion of the long arm of chromosome 2 [del (2) (q37)] are described and their clinical findings compared to published cases of 2q terminal deletions. Common clinical findings include development delay, macrocephaly, frontal bossing, depressed nasal bridge and cardiac ano...
journal_title：Clinical genetics
pub_type： 杂志文章,评审
doi：10.1111/j.1399-0004.1995.tb04073.x
更新日期：1995-09-01 00:00:00
abstract：:A total of 509 specimens of spontaneous abortion were studied. Of 364 complete specimens, 15 (4.1%) had central nervous system (CNS) abnormalities. The defects which were seen were anencephaly, spina bifida, iniencephaly, encephalocele and anencephaly combined with complete rachischisis. A high proportion (five out of...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1978.tb04136.x
更新日期：1978-05-01 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：:In 107 Finnish patients with progressive myoclonus epilepsy (PME), belonging to 74 families, autosomal recessive inheritance was evident. The sex ratio was 48:51, the corrected proportion of affected sibs being 0.260. Of 68 marriages 15, or 22%, were consanguineous; several of the parents were related and the geograph...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1979.tb01770.x
更新日期：1979-05-01 00:00:00
abstract：:One hundred amniotic fluids were tested for the presence of ABH blood group substances. Gestation at amniocentesis ranged from 12 to 28 weeks, with a mean of 16.6 weeks. The secretor status of the fluid was correlated with the secretor status of the baby after birth as determined from a sample of saliva. Fluid and sal...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1980.tb01018.x
更新日期：1980-08-01 00:00:00
abstract：:Most publications on the ethical aspects of genetic research into Alzheimer's Disease (AD) concentrate on the differences between the opinions of professionals and non-professionals. Differences in rating of morally relevant issues between groups of professionals have not yet been described. A modified Delphi study in...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.2009.01323.x
更新日期：2010-04-01 00:00:00
abstract：:Developmental control of gene expression has a major impact on the design of beta-globin retrovirus vectors for hematopoietic stem cell gene therapy of beta-thalassemia. It is obvious that the endogenous locus control region (LCR) elements that drive beta-globin gene expression in transgenic mice must be included in t...
journal_title：Clinical genetics
pub_type： 杂志文章,评审
doi：10.1034/j.1399-0004.2001.590103.x
更新日期：2001-01-01 00:00:00
abstract：:In an epidemiological study, infants identified at birth as having sex chromosome anomalies are enrolled in a voluntary, long term evaluations program. Case histories are presented of the first four boys in the series to have a 47,XXY karyotype. They have been followed from birth for 6 to 9 years, with physical and ps...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1975.tb00357.x
更新日期：1975-01-01 00:00:00
abstract：:The concurrence of a short arm isochromosome and a translocation of the entire long arm of the same chromosome to a telomere of another chromosome, implying trisomy for 4p, 5p, 7p, 9p, 10p or 12p, has been described in 13 patients. We have now used fluorescence in situ hybrization (FISH) to better characterize one of ...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1034/j.1399-0004.1999.550209.x
更新日期：1999-02-01 00:00:00
abstract：:Congenital heart disease (CHD) is one of most prevalent birth defects in the world. However, the underlying molecular mechanism(s) have not been fully understood. Here we report that increased CHD susceptibility is associated with genetic polymorphisms for de novo nucleotide biosynthesis in northern Chinese population...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/cge.12874
更新日期：2017-05-01 00:00:00
abstract：:The associations between characteristics of family relationships and family trends in cancer worry and the psychological adjustment of recipients of genetic testing for cancer susceptibility were investigated. Data provided by 178 individuals from 24 families with Lynch syndrome who participated in a cohort study inve...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.2008.01104.x
更新日期：2009-01-01 00:00:00
abstract：:Use of an intragenic BamHI restriction fragment length polymorphism within the 5' end of the retinoblastoma gene (RB1) provided improved genetic counselling for five familial and ten non-familial retinoblastoma patients and their relatives. All other polymorphic probes within RB1 were uninformative in three families, ...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1990.tb03488.x
更新日期：1990-02-01 00:00:00
abstract：:A sequencing protocol for the acid beta-glucosidase (GCase) gene (GBA) was developed using a long-range PCR template. This protocol has an advantage of greater DNA yields over similar strategies. Seven Gaucher's disease patients had four novel and five other rare alleles. A non-pseudogene in-frame deletion (g.2600-260...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1034/j.1399-0004.2003.00100.x
更新日期：2003-07-01 00:00:00
abstract：:Apolipoprotein E from human serum shows a genetic polymorphism determined by two autosomal codominant alleles, Apo En and Apo Ed. Homozygosity for the gene Apo Ed (phenotype Apo E-D) results in primary dysbetalipoproteinemia, but only some individuals with this phenotype develop gross hyperlipidemia (hyperlipoproteine...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：
更新日期：1979-01-01 00:00:00
abstract：:Primary cilia are microtubule-rich hair-like extensions protruding from the surface of most post-mitotic cells. They act as sensory organelles that help interpret various environmental cues. Mutations in genes encoding proteins involved in ciliogenesis or protein transport to the primary cilia lead to a wide variety o...
journal_title：Clinical genetics
pub_type： 杂志文章,评审
doi：10.1111/j.1399-0004.2009.01240.x
更新日期：2009-08-01 00:00:00
abstract：:The genetic underpinnings of recessively inherited moderate to severe sensorineural hearing loss are not well understood, despite its higher prevalence in comparison to profound deafness. We recruited 92 consanguineous families segregating stable or progressive, recessively inherited moderate or severe hearing loss. W...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/cge.12856
更新日期：2017-04-01 00:00:00
abstract：:A variety of studies has linked vasoactive intestinal peptide (VIP) to idiopathic pulmonary arterial hypertension (IPAH). In this study, we investigated the correlation between VIP gene variants and IPAH in Chinese population. A total of 81 consecutive unrelated patients diagnosed as IPAH from 2006 to 2008 and 250 con...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.2009.01196.x
更新日期：2009-06-01 00:00:00
abstract：:To create a diagnostic document describing the utilization of pre-implantation genetic testing (PGT) in the absence of monitoring and regulation. Retrospective cohort study of couples undergoing PGT between 2004 and 2007 in Lebanon. The clinical indications for 192 PGT cycles performed during the study period were gen...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/cge.12250
更新日期：2014-08-01 00:00:00
abstract：:We have studied the role of three polymorphic genes of the renin-angiotensin system (RAS) as independent risk factors for myocardial infarction (MI) and their correlation with three of the major coronary risk factors: serum cholesterol (CH), hypertension (HT) and smoking (SM). A population of 392 men was genotyped for...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1034/j.1399-0004.2001.600108.x
更新日期：2001-07-01 00:00:00
abstract：:Severe deficiency of arylsulphatase A (ARSA) activity was detected in a boy with delayed psychomotor development, coarse face and liver enlargement when he was aged 2. The case does not fit into the description of the Metachromatic leukodystrophy (MLD) proposed by Hagberg (1963) mainly because he did not deteriorate. ...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1984.tb01090.x
更新日期：1984-11-01 00:00:00
