What is a biobank? Differing definitions among biobank stakeholders.

abstract：:Several sequence variations were examined for being endogenous "risk markers" in the development of CHD. The "markers" in this study included: the PstI-SstI RFLPs in the apo AI-CIII gene cluster, the EcoRI-MspI RFLPs in the apo B100 gene and the SstI RFLP in the 5' flanking region of the insulin gene. The study popula...

journal_title：Clinical genetics

authors： Wick U,Witt E,Engel W

更新日期：1995-04-01 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：:This review assessed parents' attitudes toward childhood genetic testing for health conditions, with a focus on perceived advantages and disadvantages. We also evaluated the factors that influence parents' attitudes toward childhood genetic testing. We searched Medline, Medline In-Process, EMBASE, PsycINFO, Social Wor...

journal_title：Clinical genetics

authors： Lim Q,McGill BC,Quinn VF,Tucker KM,Mizrahi D,Patenaude AF,Warby M,Cohn RJ,Wakefield CE

更新日期：2017-12-01 00:00:00

abstract：:Several genes involved in the familial appearance of thoracic aortic aneurysms and dissections (FTAAD) have been characterized recently, one of which is SMAD3. Mutations of SMAD3 cause a new syndromic form of aortic aneurysms and dissections associated with skeletal abnormalities. We discovered a small interstitial de...

journal_title：Clinical genetics

authors： Hilhorst-Hofstee Y,Scholte AJ,Rijlaarsdam ME,van Haeringen A,Kroft LJ,Reijnierse M,Ruivenkamp CA,Versteegh MI,Pals G,Breuning MH

更新日期：2013-04-01 00:00:00

abstract：:We have detected a novel mutation in the adrenoleukodystrophy (ALD) gene in skin fibroblasts in primary culture derived from a patient suffering from the adrenocortical insufficiency-only-phenotype of ALD. This nonsense mutation (C2400T/Q672X) is the only mutation reported to date affecting exon 10. It leads to a tran...

journal_title：Clinical genetics

authors： Holzinger A,Maier E,Stöckler-Ipsiroglu S,Braun A,Roscher AA

更新日期：1998-06-01 00:00:00

abstract：:Missense MECP2 variants can have various phenotypic effects ranging from a normal phenotype to typical Rett syndrome (RTT). In females, the phenotype can also be influenced by the X-inactivation pattern. In this study, we present detailed clinical descriptions of six patients with a rare base-pair substitution affecti...

journal_title：Clinical genetics

authors： Schönewolf-Greulich B,Tejada MI,Stephens K,Hadzsiev K,Gauthier J,Brøndum-Nielsen K,Pfundt R,Ravn K,Maortua H,Gener B,Martínez-Bouzas C,Piton A,Rouleau G,Clayton-Smith J,Kleefstra T,Bisgaard AM,Tümer Z

更新日期：2016-06-01 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：:Clinical evaluation of a 13 1/2-year-old male revealed a 4.4-cm leg length discrepancy and a small penis with a normal endocrine evaluation. Cytogenetic analysis of peripheral blood lymphocytes and skin fibroblasts derived from the back showed 45,X/46,XY mosaicism with similar percentages of 45,X cells, 36% and 30% re...

journal_title：Clinical genetics

authors： Papenhausen PR,Mueller OT,Bercu B,Salazar J,Tedesco TA

更新日期：1991-09-01 00:00:00

abstract：:In situ hybridization was used to characterize an undetected chromosome translocation in a child whose metaphase chromosome analysis in peripheral blood and in skin culture revealed apparent monosomy 21. The cytogenetic study revealed 45 chromosomes, and no other structural anomalies were detected with G banding. In s...

journal_title：Clinical genetics

authors： López-Pajares I,Martin-Ancel A,Cabello P,Delicado A,Garcia-Alix A,San Roman C

更新日期：1993-02-01 00:00:00

abstract：:Analysis of data from 56,664 marriages in Turkey studied from 1970 to 1988 showed an overall rate of consanguineous marriages, of 21.25%, and increases in the rates of abortions, stillbirths, prenatal losses and neonatal deaths. ...

journal_title：Clinical genetics

authors： Başaran N,Hassa H,Başaran A,Artan S,Stevenson JD,Sayli BS

更新日期：1989-09-01 00:00:00

abstract：BACKGROUND:Limited knowledge exists on phenotypes associated with the D1152H cystic fibrosis transmembrane conductance regulator (CFTR) mutation. METHODS:Subjects with a D1152H allele in trans with another CFTR mutation were identified using the French Cystic Fibrosis Registry. Phenotypic characteristics were compared...

journal_title：Clinical genetics

authors： Burgel PR,Fajac I,Hubert D,Grenet D,Stremler N,Roussey M,Siret D,Languepin J,Mely L,Fanton A,Labbé A,Domblides P,Vic P,Dagorne M,Reynaud-Gaubert M,Counil F,Varaigne F,Bienvenu T,Bellis G,Dusser D

更新日期：2010-04-01 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

authors： Simard LR,Viel J,Lambert M,Paradis G,Levy E,Delvin EE,Mitchell GA

更新日期：2004-03-01 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

authors： Denayer L,Welkenhuysen M,Evers-Kiebooms G,Cassiman JJ,Van den Berghe H

更新日期：1996-05-01 00:00:00

abstract：:We report two children, the products of a consanguineous union, who died in infancy. Both children had severe microcephaly intracranial calcification, lissencephaly and polymicrogyria. ...

journal_title：Clinical genetics

authors： Burn J,Wickramasinghe HT,Harding B,Baraitser M

更新日期：1986-08-01 00:00:00

abstract：:Rhizomelic chondrodysplasia punctata (RCDP), a peroxisomal disorder, is considered to be a lethal neonatal autosomal recessive chondrodysplasia. We report five patients, three of whom survived beyond 1 year, and we summarize the findings in 21 patients from a literature review who survived beyond 1 year. In those pati...

journal_title：Clinical genetics

authors： Wardinsky TD,Pagon RA,Powell BR,McGillivray B,Stephan M,Zonana J,Moser A

更新日期：1990-08-01 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：BACKGROUND:In addition to whole exomes, large gene panels of clinically associated genes are used as high-throughput sequencing tests in many clinical centers, but their clinical utility has been much less investigated. MATERIALS AND METHODS:Here we report the results of the 501 first unselected cases for whom TruSigh...

journal_title：Clinical genetics

authors： Pajusalu S,Kahre T,Roomere H,Murumets Ü,Roht L,Simenson K,Reimand T,Õunap K

更新日期：2018-01-01 00:00:00

abstract：:We have observed a 49 bp tandem duplication adjacent to the triplet repeat of the FMR1 gene and have shown it to occur as a variant in Finland. It affects the primers commonly used in molecular analysis of fragile X syndrome by polymerase chain reaction (PCR) methods. One concern is that females with the full mutation...

journal_title：Clinical genetics

authors： Mononen T,von Koskull H,Airaksinen RL,Juvonen V

更新日期：2007-12-01 00:00:00

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...

journal_title：Clinical genetics

authors： Murugan RC,Lee PL,Kalavar MR,Barton JC

更新日期：2008-07-01 00:00:00

abstract：:Hereditary motor and sensory neuropathy type Russe (HMSNR), also called CMT4G, is an autosomal recessive inherited peripheral neuropathy (IPN) caused by a founder mutation in the HK1 gene. HMSNR affects only patients with Roma origin, similar to the better known HMSN type Lom clarified earlier. By testing IPN patients...

journal_title：Clinical genetics

authors： Šafka Brožková D,Haberlová J,Mazanec R,Laštůvková J,Seeman P

更新日期：2016-08-01 00:00:00

abstract：:Ciliopathies, a growing pleotropic class of diseases due to mutations in genes that play an important role in primary cilia function. These highly conserved organelles are key to cell signaling. We now know, that mutations in one gene may lead to more than one ciliopathy phenotype and that one ciliopathy phenotype may...

journal_title：Clinical genetics

authors： Moran J,G Sanderson K,Maynes J,Vig A,Batmanabane V,Kannu P,Tavares E,Vincent A,Héon E

更新日期：2018-10-01 00:00:00

abstract：:We report studies on two patients (a mother and her daughter) presenting with a Charcot-Marie-Tooth type 1 (CMT1) phenotype: low nerve conduction velocities of 13-15 m/s and an early onset at the age of walking. DNA analysis of the gene coding for the major peripheral myelin protein PO showed a new point mutation in e...

journal_title：Clinical genetics

authors： Blanquet-Grossard F,Pham-Dinh D,Dautigny A,Latour P,Bonnebouche C,Corbillon E,Chazot G,Vandenberghe A

更新日期：1995-12-01 00:00:00

abstract：:A sample of psychotic and prepsychotic twins is presented, based on 9000 patients born during 1930--1946 and admitted to psychiatric departments in Scania, Sweden, during the 1960's. All twins of the same sex (76 pairs) were registered and their records examined. Twenty-three complete pairs, where one or both twins sh...

journal_title：Clinical genetics

authors： Eberhard G

更新日期：1981-05-01 00:00:00

abstract：:Chromosomal analyses of cultured lymphocytes from nine patients with familial multiple endocrine adenomatosis (MEA) syndrome type I from six families and two patients - father and daughter - with familial MEA syndrome type II showed an increased frequency of chromosomal breakage. The frequency of sister chromatid exch...

journal_title：Clinical genetics

authors： Gustavson KH,Jansson R,Oberg K

更新日期：1983-02-01 00:00:00

abstract：:The success of biomedical research in the past few decades has led to dramatic improvements in human health and, as a result, increased life expectancy. An unexpected consequence, however, has been an increase in the number of age-related diseases and, in particular, neurodegenerative diseases. Despite their prevalenc...

journal_title：Clinical genetics

authors： Michno K,van de Hoef D,Wu H,Boulianne GL

更新日期：2005-06-01 00:00:00

abstract：:One hundred and eighty-one male and 48 female myocardial infarction (MI) survivors and 172 male and 194 female controls were studied with respect to a possible association between premature parental MI (before age 61 years in mothers and/or before age 56 years in fathers) and an insertion/deletion (I/D) polymorphism i...

journal_title：Clinical genetics

authors： Bøhn M,Berge KE,Bakken A,Erikssen J,Berg K

更新日期：1993-12-01 00:00:00

abstract：:Van der Woude syndrome (VWS) is an autosomal dominant disorder manifested in cleft lip and/or palate and lip pits. Isolated clefts of the lip and/or palate (ICLP) have both genotype and phenotype overlap with VWS. Subjects with ICLP have abnormalities in brain structure and function. Given the similarities between VWS...

journal_title：Clinical genetics

authors： Nopoulos P,Richman L,Andreasen NC,Murray JC,Schutte B

更新日期：2007-06-01 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：:Cancer screening recommendations for patients with Lynch-like syndrome (LLS) are not well defined. We evaluated adherence to Lynch syndrome (LS) screening recommendations, cancer risk perceptions, and communication within the families among colorectal cancer (CRC) survivors with LLS. Thirty-four participants with LLS ...

journal_title：Clinical genetics

authors： Katz LH,Burton-Chase AM,Advani S,Fellman B,Polivka KM,Yuan Y,Lynch PM,Peterson SK

更新日期：2016-03-01 00:00:00

abstract：:Within 3 working days in September, 1974, we made three prenatal diagnoses of 47,XY,+21 from three women of advanced maternal age. Two were 37 and 38 years old, respectively, and nulliparous. One was 42 years old and had four normal children. The possibility of cell contamination arose when the second diagnosis of tri...

journal_title：Clinical genetics

authors： Hsu LY,Godmilow L,Serotkiq AV,Hirschhorn K

更新日期：1976-04-01 00:00:00