NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder.

abstract：:Monoamine oxidase activity was assayed in platelets from 32 apparently healthy subjects using phenethylamine as substrate and two concentrations of oxygen (0.06 and 0.12 mM). Apparent Km (microM) and Vmax (nmol/mg protein/5 min) values were estimated from double reciprocal plots. The means of the Km and Vmax values we...

journal_title：Clinical genetics

authors： Koide Y,Sääf J,Roos SB,Wahlund LO,Wetterberg L

更新日期：1981-05-01 00:00:00

abstract：:Most microdeletion syndromes identified before the implementation of array-comparative genomic hybridization (array-CGH) were presumed to be well-defined clinical entities. However, the introduction of whole-genome screening led not only to the description of new syndromes but also to the recognition of a broader spec...

journal_title：Clinical genetics

authors： Mosca-Boidron AL,Bouquillon S,Faivre L,Callier P,Andrieux J,Marle N,Bonnet C,Vincent-Delorme C,Berri M,Plessis G,Manouvrier-Hanu S,Dieux-Coeslier A,Thauvin-Robinet C,Pipiras E,Delahaye A,Payet M,Ragon C,Masurel-Paulet A

更新日期：2012-07-01 00:00:00

abstract：:Four unrelated French cases of familial amyloid polyneuropathy are reported. Clinical onset ranged from the sixth to the ninth decade. Sensory signs were predominant initially in the lower limbs; motor changes, and in one case autonomic involvement, appeared later. Amyloid disease was clinically limited to the periphe...

journal_title：Clinical genetics

authors： Grateau G,Adams D,Malapert D,Viemont M,Delpech M,Said G

更新日期：1993-03-01 00:00:00

abstract：:Despite attention to psychological issues during genetic counselling and testing for hereditary breast and ovarian cancer risk, limited information is available on cancer-specific distress among African American women being targeted for participation in counselling and testing. Therefore, the purpose of this study is ...

journal_title：Clinical genetics

authors： Halbert Ch,Kessler L,Collier A,Paul Wileyto E,Brewster K,Weathers B

更新日期：2005-09-01 00:00:00

abstract：:Allogeneic bone marrow transplantation was carried out in an 81-day-old Portuguese water dog with GM1 gangliosidosis using a DLA identical sibling as donor. Engraftment was complete and beta-galactosidase activity in leukocytes of the transplanted dog were similar to those in the donor. Over the next 2.5 months neurol...

journal_title：Clinical genetics

authors： O'Brien JS,Storb R,Raff RF,Harding J,Appelbaum F,Morimoto S,Kishimoto Y,Graham T,Ahern-Rindell A,O'Brien SL

更新日期：1990-10-01 00:00:00

abstract：:FLNC-related myofibrillar myopathy could manifest as autosomal dominant late-onset slowly progressive proximal muscle weakness; involvements of cardiac and/or respiratory functions are common. We describe 34 patients in nine families of FLNC-related myofibrillar myopathy in Hong Kong ethnic Chinese diagnosed over the ...

journal_title：Clinical genetics

authors： Lee HH,Wong S,Sheng B,Pan NK,Leung YF,Lau KD,Cheng YS,Ho LC,Li R,Lee CN,Tsoi TH,Cheung YN,Fu YM,Kan NA,Chu YP,Au WL,Yeung HJ,Li SH,Cheung CM,Tong HF,Hung LE,Chan TY,Li CT,Tong TT,Tong TC,Leung HC,Lee K

更新日期：2020-05-01 00:00:00

abstract：:Exome sequencing is being offered for children with undiagnosed conditions to identify a primary (causative) variant. Parental preferences for learning secondary (incidental) variants are largely unexplored. Our objective was to characterize values and beliefs that shape parents' preferences for learning their childre...

journal_title：Clinical genetics

authors： Sapp JC,Dong D,Stark C,Ivey LE,Hooker G,Biesecker LG,Biesecker BB

更新日期：2014-02-01 00:00:00

abstract：:For many years, a considerable number of patients with autoimmune diseases (ADs) have suffered from a lack of drug response and drug-related toxicity. Despite the emergence of new therapeutic options such as biological agents, patients continue to struggle with these problems. Unfortunately, new challenges, including ...

journal_title：Clinical genetics

authors： Tavakolpour S,Darvishi M,Ghasemiadl M

更新日期：2018-03-01 00:00:00

abstract：:Atypical or variant forms of well-known chondrodysplasias may pose diagnostic problems. We report on a girl with clinical features suggesting diastrophic dysplasia but with unusual radiographic features including severe platyspondyly, wide metaphyses, and fibular overgrowth, which are partially reminiscent of metatrop...

journal_title：Clinical genetics

authors： Mégarbané A,Haddad FA,Haddad-Zebouni S,Achram M,Eich G,Le Merrer M,Superti-Furga A

更新日期：1999-07-01 00:00:00

abstract：:Few studies have investigated the frequency of hereditary non-polyposis colorectal cancer (HNPCC) in patients with colorectal cancer (CRC), and these have shown marked geographic variations. The aim of this study was to estimate the frequency of HNPCC in a cohort of Uruguayan CRC patients. We included all patients ope...

journal_title：Clinical genetics

authors： Sarroca C,Valle AD,Fresco R,Renkonen E,Peltömaki P,Lynch H

更新日期：2005-07-01 00:00:00

abstract：:We describe 2 patients with Angelman syndrome (AS) due to paternal uniparental disomy (UPD). One patient is a female aged 30 years and the other a male aged 4 1/2 years. Both have the characteristic wide mouth and big chin, moderate mental retardation, virtually no speech but some 30 words of sign language and a happy...

journal_title：Clinical genetics

authors： Smith A,Robson L,Buchholz B

更新日期：1998-03-01 00:00:00

abstract：:Leigh syndrome (LS), the most common childhood mitochondrial disorder, has characteristic clinical and neuroradiologic features. Mutations in more than 75 genes have been identified in both the mitochondrial and nuclear genome, implicating a high degree of genetic heterogeneity in LS. To profile these genetic signatur...

journal_title：Clinical genetics

authors： Lee JS,Yoo T,Lee M,Lee Y,Jeon E,Kim SY,Lim BC,Kim KJ,Choi M,Chae JH

更新日期：2020-04-01 00:00:00

abstract：:Renal angiomyolipomas were present in 23 out of a series of 38 patients with proven tuberous sclerosis (60.5%). Multiplicity and bilateral localization of combined renal angiomyolipomas were important differences between this category and the isolated, usually solitary, angiomyolipomas. One of the parents of a patient...

journal_title：Clinical genetics

authors： van Baal JG,Fleury P,Brummelkamp WH

更新日期：1989-03-01 00:00:00

abstract：:The determination of acetylcholinesterase (AChE) has been shown to be as specific as alphafetoprotein (AFP) for the prenatal detection of open neural tube defects although AFP remains the method of choice. This paper describes a semi-automated technique for the analysis of acetylcholinesterase in amniotic fluid that: ...

journal_title：Clinical genetics

authors： Elejalde BR,Peck G,de Elejalde MM

更新日期：1986-03-01 00:00:00

abstract：:An extra G-positive band within the 9qh regions is reported as a new chromosome 9 variant. This variant may have been more prevalent than has hitherto been perceived. Due to its small size, this extra band might not be readily recognizable in routine G-staining. ...

journal_title：Clinical genetics

authors： Hoo JJ

更新日期：1992-03-01 00:00:00

abstract：:Mitochondrial disorders (MDs) are caused by defects in 1 or multiple complexes of the oxidative phosphorylation (OXPHOS) machinery. MDs are associated with a broad range of clinical signs and symptoms, and have considerable clinical overlap with other neuromuscular syndromes. This overlap might be due to involvement o...

journal_title：Clinical genetics

authors： Panneman DM,Smeitink JA,Rodenburg RJ

更新日期：2018-05-01 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

authors： Reis LM,Costakos D,Wheeler PG,Bardakjian T,Schneider A,Fung SSM,University of Washington Center for Mendelian Genomics.,Semina EV

更新日期：2020-12-13 00:00:00

abstract：:Poland anomaly and facio-auriculo-vertebral dysplasia are considered to be separate entities. We describe a 3-year-old boy with features of both Poland anomaly and facio-auriculo-vertebral dysplasia. This is the first report, to our knowledge, of this combination of birth defects. Possible pathogenetic implications ar...

journal_title：Clinical genetics

authors： Cobben JM,van Essen AJ,McParland PC,Polman HA,ten Kate LP

更新日期：1992-02-01 00:00:00

abstract：:Among a series of 98 triploid abortions, there were four specimens with two cells lines. The detection of two clones was by Q-banding of chromosomes. Two of these four specimens were dizygotic twins, the third was either a mosaic or monozygotic twins with loss of a sex chromosome from one twin and the fourth was best ...

journal_title：Clinical genetics

authors： Uchida IA,Freeman VC,Chen PL

更新日期：1985-12-01 00:00:00

abstract：:Evaluation of the performance of 17-18-year-old high school students on standard intelligence tests confirms previous reports that nearsighted persons consistently achieve scores approximately eight I.O. points higher than non-myopes. Comparison of tests administered to the same students 10 years earlier suggests that...

journal_title：Clinical genetics

authors： Karlsson JL

更新日期：1975-11-01 00:00:00

abstract：:Mitotic chromosome analyses performed on 820 infertile men revealed 60 (7.3%) men with some kind of chromosomal abnormality. Sex chromosomal abnormalities were detected in 28 (3.4%) and autosomal translocations in 9 (1.0%). Pericentric inversions of chromosome 9, with possible adverse effect on reproduction, was found...

journal_title：Clinical genetics

authors： Mićić M,Mićić S,Diklić V

更新日期：1984-01-01 00:00:00

abstract：:The effect of the C677T polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene, traditionally associated with ischaemic heart disease (IHD), was assessed in a Spanish population. The transmission disequilibrium test (TDT) was used to determine a possible association in a sample of 101 trios of IHD patien...

journal_title：Clinical genetics

authors： González-Pérez E,Via M,López-Alomar A,Esteban E,Valveny N,Bao M,Domingo E,Moral P

更新日期：2002-09-01 00:00:00

abstract：:Cutis laxa is characterised by redundant, inelastic skin with deep wrinkling and additional variable systemic involvement. Mutations in fibulin-4 (EFEMP2) and fibulin-5 (FBLN5) were described to be causative for autosomal recessive cutis laxa type 1 in a few families each. The female patient was born to healthy consan...

journal_title：Clinical genetics

authors： Hoyer J,Kraus C,Hammersen G,Geppert JP,Rauch A

更新日期：2009-09-01 00:00:00

abstract：:The deletions of 4.4 and 3.2 kb identified in exons 24 and 20, respectively, are two of the four most common mutations in the BRCA1 gene in Greek breast cancer patients. They have been reported previously six and three times, respectively, in unrelated Greek families. A total of 11 more families have been identified i...

journal_title：Clinical genetics

authors： Pertesi M,Konstantopoulou I,Yannoukakos D

更新日期：2011-10-01 00:00:00

abstract：:Red hair color (RHC) was studied in a Danish material of normal families that was tested earlier for 65 marker systems. We found 4.85% of the parents to be red-haired or to have been so early in life. Scoring RHC for linkage as an autosomal dominant against blond and as hypostatic to dark hair gave a lod score of z = ...

journal_title：Clinical genetics

authors： Eiberg H,Mohr J

更新日期：1987-08-01 00:00:00

abstract：:Morquio syndrome, also known as Mucopolysaccharidosis Type IV, is well known to pediatricians and geneticists, although it is rare. Many do not know much about the physician who first described this lysosomal disorder. In this brief review, the person and the disease are described, along with philatelic illustrations ...

journal_title：Clinical genetics

authors： Chudley AE,Chakravorty C

更新日期：2002-12-01 00:00:00

abstract：:Two semen samples from a 47,XXY male were examined using chromosome-specific DNA probes and fluorescent in situ hybridization (FISH) to determine the distribution of sex chromosomes and an autosome (chromosome 17) in the sperm. A motile population of sperm was also prepared from one sample using the swim-up technique ...

journal_title：Clinical genetics

authors： Han TH,Ford JH,Flaherty SP,Webb GC,Matthews CD

更新日期：1994-02-01 00:00:00

abstract：:An allele association study of 19 polymorphisms in surfactant proteins SP-A1, SP-A2, SP-B, and SP-D genes in acute respiratory distress syndrome (ARDS) was carried out. Trend-test analysis revealed differences (p < 0.05) in the frequency of alleles for some of the microsatellite markers flanking SP-B, and for one poly...

journal_title：Clinical genetics

authors： Lin Z,Pearson C,Chinchilli V,Pietschmann SM,Luo J,Pison U,Floros J

更新日期：2000-09-01 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

authors： Politei J,Schenone AB,Cabrera G,Heguilen R,Szlago M

更新日期：2016-01-01 00:00:00

abstract：:Bardet-Biedl syndrome (BBS) is a rare pediatric ciliopathy characterized by marked clinical variability and extensive genetic heterogeneity. Typical diagnosis of BBS is secured at a median of 9 years of age, and sometimes well into adolescence. Here, we report a patient in whom prenatal detection of increased nuchal f...

journal_title：Clinical genetics

authors： Ashkinadze E,Rosen T,Brooks SS,Katsanis N,Davis EE

更新日期：2013-06-01 00:00:00