Childhood manifestation of autosomal dominant polycystic kidney disease: no evidence for genetic heterogeneity.

abstract：:Single cells were sorted from cultured fibroblasts of five carriers of Fabry's disease using a cell sorter (FACS II). The alpha-galactosidase A activity in the single fibroblasts was assayed in nanoliter droplets with the help of quantitative microfluorimetric techniques. Two populations of fibroblasts were present in...

journal_title：Clinical genetics

authors： Jongkind JF,Verkerk A,Niermeijer MF

更新日期：1983-04-01 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

authors： Peixoto A,Santos C,Pinto P,Pinheiro M,Rocha P,Pinto C,Bizarro S,Veiga I,Principe AS,Maia S,Castro F,Couto R,Gouveia A,Teixeira MR

更新日期：2015-07-01 00:00:00

abstract：:In all known congenital imprinting disorders an association with aberrant methylation or mutations at specific loci was well established. However, several patients with transient neonatal diabetes mellitus (TNDM), Silver-Russell syndrome (SRS) and Beckwith-Wiedemann syndrome (BWS) exhibiting multilocus hypomethylation...

journal_title：Clinical genetics

authors： Begemann M,Spengler S,Kanber D,Haake A,Baudis M,Leisten I,Binder G,Markus S,Rupprecht T,Segerer H,Fricke-Otto S,Mühlenberg R,Siebert R,Buiting K,Eggermann T

更新日期：2011-07-01 00:00:00

abstract：:A clinical, pathological and genetic study was made of 50 patients with retinoblastoma in the Newcastle Hospital region over the period 1931-1970 inclusive. Twenty-seven patients were affected in one eye only; 23 had bilateral tumours. The incidence of the tumour was approximately 1:16,000 live births. Bilateral cases...

journal_title：Clinical genetics

authors： Aherne GE,Roberts DF

更新日期：1975-10-01 00:00:00

abstract：:Short stature skeletal dysplasia (SD) patients have orthopedic and neurologic complications causing significant pain and physical disability. We conducted a large cross-sectional online survey in 361 people with short stature SD (>10 years) to describe pain prevalence, characteristics, and the relationship between pai...

journal_title：Clinical genetics

authors： Alade Y,Tunkel D,Schulze K,McGready J,Jallo G,Ain M,Yost T,Hoover-Fong J

更新日期：2013-09-01 00:00:00

abstract：:Fabry disease (FD) is an X-linked lysosomal storage disorder (LSD) caused by the deficiency of the enzyme α-galactosidase. It exhibits a wide clinical spectrum that may lead to a delayed or even missed diagnosis and the real incidence can be underestimated. We report the cases of two unrelated Italian families in whom...

journal_title：Clinical genetics

authors： Zampetti A,Fania L,Antuzzi D,Giurdanella F,Gnarra M,Bertola F,Lualdi S,Filocamo M,Morrone A,Feliciani C

更新日期：2013-09-01 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

authors： Norio R,Koskiniemi M

更新日期：1979-05-01 00:00:00

abstract：:Autism spectrum disorder (ASD) represents a set of neurodevelopmental disorders with a strong genetic aetiology. Chromosomal rearrangements have been detected in 5-10% of the patients with ASD, and recent applications of array comparative genomic hybridisation (aCGH) are identifying further candidate regions and genes...

journal_title：Clinical genetics

authors： Ozgen HM,van Daalen E,Bolton PF,Maloney VK,Huang S,Cresswell L,van den Boogaard MJ,Eleveld MJ,van 't Slot R,Hochstenbach R,Beemer FA,Barrow M,Barber JC,Poot M

更新日期：2009-10-01 00:00:00

abstract：:We report a case of trisomy 13 with cystic hygroma and generalized hydrops fetalis diagnosed prenatally by routine ultrasound prior to genetic amniocentesis in a 34-year-old woman. Although fetal cystic hygroma is usually associated with a 45,X karyotype, this and other previous reports suggest that it may be seen in ...

journal_title：Clinical genetics

authors： Greenberg F,Carpenter RJ,Ledbetter DH

更新日期：1983-11-01 00:00:00

abstract：:This brief account of Woody Guthrie is instructive to clinical geneticists. It tells the story of one famous man's understanding of, and struggle with, Huntington's disease. The philatelic illustration depicts Woody Guthrie playing his guitar in the years before advancement of the disease. ...

journal_title：Clinical genetics

authors： Innes AM,Chudley AE

更新日期：2002-04-01 00:00:00

abstract：:The most relevant phenotypic features seen in both proximal and distal partial trisomy 13 have been identified from a review of 35 cases. Clinical delineation of either proximal or distal partial trisomy 13 has been demonstrated through the use of conspicuous phenotypic differences. The findings of persistent foetal H...

journal_title：Clinical genetics

authors： Rogers JF

更新日期：1984-03-01 00:00:00

abstract：:Germline mutations of the STK11 gene mapped to chromosome 19p13.3 are responsible for Peutz Jeghers syndrome (PJS), a dominant disorder associated with characteristic gastrointestinal hamartomatous polyps and a predisposition to various cancers. We conducted a detailed investigation of germline STK11 alterations by pr...

journal_title：Clinical genetics

authors： Jiang CY,Esufali S,Berk T,Gallinger S,Cohen Z,Tobi M,Redston M,Bapat B

更新日期：1999-08-01 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

authors： Kondo I,Hamabe J,Yamamoto K,Niikawa N

更新日期：1990-12-01 00:00:00

abstract：:In a Danish family highly susceptible to ischemic heart disease, hyperlipidemia did not simply cosegregate with a previously undescribed 10 bp deletion in the LDL receptor gene causing heterozygous familial hypercholesterolemia (FH). This mutation, designated as FH DK-4, deletes 10 nucleotides from exon 4 coding for t...

journal_title：Clinical genetics

authors： Jensen HK,Hansen PS,Jensen LG,Kristensen MJ,Klausen IC,Kjeldsen M,Lemming L,Bolund L,Gregersen N,Faergeman O

更新日期：1995-07-01 00:00:00

abstract：:Chromosome displays and listings are presented showing loci whose position is known in both man and mouse, in similar manner to our previous report (Dalton et al. 1981). There is now evidence for at least 27 conserved autosomal segments with two or more loci in the two species. The human and mouse chromosome maps show...

journal_title：Clinical genetics

authors： Buckle VJ,Edwards JH,Evans EP,Jonasson JA,Lyon MF,Peters J,Searle AG,Wedd NS

更新日期：1984-07-01 00:00:00

abstract：:This is a case report on an infant with de novo terminal deletions on the long arm of chromosome 14 and on the short arm of chromosome 20 [46, XX, del(14)(q32)del(20)(p11)]. Examination revealed that the infant had a peculiar face, a cleft and high palate, abnormal dentition, butterfly-like vertebral defects, finger a...

journal_title：Clinical genetics

authors： Uehara S,Akai Y,Takeyama Y,Okamura K,Takabayashi T,Yajima A,Natsui M,Nakai H

更新日期：1993-01-01 00:00:00

abstract：:Recently, bi-allelic mutations in cytosolic isoleucyl-tRNA synthetase (IARS) have been described in three individuals with growth delay, hepatic dysfunction, and neurodevelopmental disabilities. Here we report an additional subject with this condition identified by whole-exome sequencing. Our findings support the asso...

journal_title：Clinical genetics

authors： Orenstein N,Weiss K,Oprescu SN,Shapira R,Kidron D,Vanagaite-Basel L,Antonellis A,Muenke M

更新日期：2017-06-01 00:00:00

abstract：:Uncertainty is a challenging aspect of caring for children with Duchenne/Becker muscular dystrophies (DBMD). Although uncertainty is often perceived as a state to be avoided, hope may influence caregivers' perceptions of uncertainty as opportunity. The goal of this cross-sectional quantitative study was to pilot a nov...

journal_title：Clinical genetics

authors： Bell M,Biesecker BB,Bodurtha J,Peay HL

更新日期：2019-06-01 00:00:00

abstract：:SOX18 mutations in humans are associated with both recessive and dominant hypotrichosis-lymphedema-telangiectasia syndrome (HLTS). We report two families with affected children carrying a SOX18 mutation: a living patient and his stillborn brother from Canada and a Belgian patient. The two living patients were diagnose...

journal_title：Clinical genetics

authors： Moalem S,Brouillard P,Kuypers D,Legius E,Harvey E,Taylor G,Francois M,Vikkula M,Chitayat D

更新日期：2015-04-01 00:00:00

abstract：:Patients with restrictive cardiomyopathy (RC) have impaired diastolic function, but intact systolic function until later stages of the disease, ultimately leading to heart failure. Primary RC is often sporadic, but also may be inherited in an autosomal dominant fashion, particularly the idiopathic forms. Recently ther...

journal_title：Clinical genetics

authors： Zhang J,Kumar A,Stalker HJ,Virdi G,Ferrans VJ,Horiba K,Fricker FJ,Wallace MR

更新日期：2001-04-01 00:00:00

abstract：:Molecular testing of patients with autosomal dominant hypercholesterolemia (ADH) fails to detect a causal functional mutation in 15.25% of subjects. We studied an ADH pedigree in which known ADH-causing genes (LDLR, APOB and PCSK9) were excluded. Genome-wide analysis on 15 family members detected significant associati...

journal_title：Clinical genetics

authors： Cenarro A,García-Otín AL,Tejedor MT,Solanas M,Jarauta E,Junquera C,Ros E,Mozas P,Puzo J,Pocoví M,Civeira F

更新日期：2011-05-01 00:00:00

abstract：:We describe the neurological evaluation and MRI analysis of 30 patients, belonging to 16 families with Usher syndrome (US) type I and type II (US1 and US2). In addition to the classic visual and audiological abnormalities seen in these patients, we observed abnormal gait in 88.9% of US1 and in 66.7% of US2 patients an...

journal_title：Clinical genetics

authors： Tamayo ML,Maldonado C,Plaza SL,Alvira GM,Tamayo GE,Zambrano M,Frias JL,Bernal JE

更新日期：1996-09-01 00:00:00

abstract：:In the McCune-Albright syndrome, fibrous dysplasia of bones and various forms of endocrine dysfunction are associated with multiple pigmented skin lesions. Examination of a 4-year-old female patient and comparison with photographs published in the literature revealed that the cutaneous pigmentation is arranged in a sy...

journal_title：Clinical genetics

authors： Happle R

更新日期：1986-04-01 00:00:00

abstract：:Genetic heterogeneity has made the identification of genes related to hearing impairment a challenge. In the absence of a clear phenotypic aetiology, recurrence risk estimates are often based on family segregation and may be imprecise. We profiled by oligonucleotide array-CGH patients presenting non-syndromic hearing ...

journal_title：Clinical genetics

authors： Rosenberg C,Freitas ÉL,Uehara DT,Auricchio MTBM,Costa SS,Oiticica J,Silva AG,Krepischi AC,Mingroni-Netto RC

更新日期：2016-04-01 00:00:00

abstract：:An indirect method for estimating the birth prevalence of the Crouzon syndrome is presented. The fraction of Crouzon syndrome patients in large clinical surveys of all cases of craniosynostosis is calculated and the fractional component obtained is multiplied by the known birth prevalence of craniosynostosis in genera...

journal_title：Clinical genetics

authors： Cohen MM Jr,Kreiborg S

更新日期：1992-01-01 00:00:00

abstract：:Fibroblast low density lipoprotein (LDL) plasma membrane receptor activity, measured as 125I-LDL association (plasma membrane binding plus intracellular accumulation) and degradation was determined in cell strains from 14 monozygotic (MZ) and 21 like-sexed dizygotic (DZ) normolipidemic twin pairs. The twins were betwe...

journal_title：Clinical genetics

authors： Magnus P,Maartmann-Moe K,Golden W,Nance WE,Berg K

更新日期：1981-08-01 00:00:00

abstract：:In this report, a case with corpus callosum dysgenesis, infantile spasm, microcephaly, psychomotor retardation, exophthalmos, cleft lip-palate and abnormal EEG findings is presented. His parents are first-degree relatives. We could not fully match the findings of our patient with the criteria of any syndrome published...

journal_title：Clinical genetics

authors： Tütüncüoglu S,Ozkinay F,Genel F,Uran N,Ozgür T

更新日期：1996-04-01 00:00:00

abstract：:Genetic and environmental factors have been implicated in the etiology of atopy and of serum IgE levels. In order to eliminate post-natal environmental influences we measured IgE in cord blood (CB-IgE) from a cohort of unselected, like-sexed twins. IgE determination was performed with a sensitive radioimmunoassay with...

journal_title：Clinical genetics

authors： Husby S,Holm NV,Christensen K,Skov R,Morling N,Petersen PH

更新日期：1996-11-01 00:00:00

abstract：:The clinical impact of duplications affecting the 11p15.5 region is difficult to predict, and depends on the parent-of-origin of the affected allele as well as on the type (deletion, duplication), the extent and genomic content of the variant. Three unrelated families with inheritance of duplications affecting the IC1...

journal_title：Clinical genetics

authors： Eggermann T,Kraft F,Kloth K,Klopocki E,Hüning I,Hempel M,Kunstmann E

更新日期：2020-10-01 00:00:00

abstract：:The physician-patient relationship was governed for centuries by the ethical principle of beneficence and the physician's dedication to the principle of doing no harm. This structure shifted, however, to the principle of personal autonomy as medical and surgical knowledge expanded and patients, rather than physicians,...

journal_title：Clinical genetics

authors： Pelias MK

更新日期：2005-01-01 00:00:00