Refined mapping of the autosomal recessive non-syndromic deafness locus DFNB13 using eight novel microsatellite markers.

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：:Large-scale genomic characterization of non-small cell lung cancer (NSCLC) has revealed several putative oncogenic driver mutations that may constitute druggable therapeutic targets. However, there are little data to suggest that such gene alterations have clinical relevance. Over 12 consecutive months, tumor biopsy s...

journal_title：Clinical genetics

authors： Li F,Du X,Zhang H,Ju T,Chen C,Qu Q,Zhang X,Qi L,Lizée G

更新日期：2017-03-01 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：:The effects of apolipoprotein (apo) A-IV genotype on serum glucose, total cholesterol, low density lipoprotein (LDL) cholesterol, high density lipoprotein (HDL) cholesterol, triglyceride and glucose concentrations were ascertained in a population of 373 men and 361 women with a mean age of about 57 years. Subjects wer...

journal_title：Clinical genetics

authors： Larson IA,Ordovas JM,Sun Z,Barnard,Lohrmann J,Feussner G,Lamon-Fava S,Schaefer EJ

更新日期：2002-06-01 00:00:00

abstract：:Chromosome analysis of G-banded cells from 92 individuals consecutively referred to the Cytogenetics Laboratory show that the paracentromeric band in the short arm (6p11), which stains negatively with G-banding and darkly with C-banding, shows a marked increase in size in about 9% of chromosome no. 6. The results of t...

journal_title：Clinical genetics

authors： Madan K,Bruinsma AH

更新日期：1979-02-01 00:00:00

abstract：:Based on current consensus guidelines and standard practice, many genetic variants detected in clinical testing are classified as disease causing based on their predicted impact on the normal expression or function of the gene in the absence of additional data. However, our laboratory has identified a subset of such v...

journal_title：Clinical genetics

authors： Rosenthal ET,Bowles KR,Pruss D,van Kan A,Vail PJ,McElroy H,Wenstrup RJ

更新日期：2015-12-01 00:00:00

abstract：:An MYH2 mutation p.(Glu706Lys) was originally described in a family with autosomal dominant inheritance, where the affected family members presented with multiple congenital contractures and ophthalmoplegia, progressing to a proximal myopathy in adulthood. Another patient with a dominant mutation p.(Leu1870Pro) was de...

journal_title：Clinical genetics

authors： Cabrera-Serrano M,Fabian VA,Boutilier J,Wise C,Faiz F,Lamont PJ,Laing NG

更新日期：2015-12-01 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：:Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) (BRWS; MIM #243310, 614583) is a rare developmental disorder affecting multiple organ systems. It is characterised by intellectual disability (mild to severe) and distinctive facial appearance (metopic ridging/trigonocephaly, bilateral ptosis, hypertelorism). The a...

journal_title：Clinical genetics

authors： Yates TM,Turner CL,Firth HV,Berg J,Pilz DT

更新日期：2017-07-01 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：:It is well known that founder mutations associated with cancer risk have useful implications for molecular diagnostics. We report the presence of a founder mutation in EPCAM involved in the etiology of Lynch syndrome (LS). The mutation extends nearly 8.7 kb (c.858 + 2478_*4507del) and is shared by 8 Polish families. F...

journal_title：Clinical genetics

authors： Dymerska D,Gołębiewska K,Kuświk M,Rudnicka H,Scott RJ,Billings R,Pławski A,Boruń P,Siołek M,Kozak-Klonowska B,Szwiec M,Kilar E,Huzarski T,Byrski T,Lubiński J,Kurzawski G

更新日期：2017-12-01 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

authors： Tsai PC,Tsai YS,Soong BW,Huang YH,Wu HT,Chen YH,Lin KP,Liao YC,Lee YC

更新日期：2017-08-01 00:00:00

abstract：:Non-mosaic males with a 46,XY karyotype and a MECP2 null mutation display a phenotype of severe neonatal-onset encephalopathy that is distinctly different from Rett syndrome (RTT). To increase awareness of this rare disorder, we are reporting novel findings in a sporadic case, compare them to 16 previously reported ca...

journal_title：Clinical genetics

authors： Schüle B,Armstrong DD,Vogel H,Oviedo A,Francke U

更新日期：2008-08-01 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：:We recently described a complex multisystem syndrome in which mild-moderate myopia segregated as an independent trait. A plethora of genes has been related to sporadic and familial myopia. More recently, in Chinese patients severe myopia (MYP25, OMIM:617238) has been linked to mutations in P4HA2 gene. Seven family mem...

journal_title：Clinical genetics

authors： Napolitano F,Di Iorio V,Testa F,Tirozzi A,Reccia MG,Lombardi L,Farina O,Simonelli F,Gianfrancesco F,Di Iorio G,Melone MAB,Esposito T,Sampaolo S

更新日期：2018-05-01 00:00:00

abstract：:Two patients with the oro-facial-digital syndrome II or Mohr syndrome presented laryngeal anomalies and hallucal and postaxial polysyndactyly of the feet. Those rare malformations are typically observed in patients with the Majewski syndrome, a lethal, short rib-polydactyly skeletal dysplasia with orofacial findings a...

journal_title：Clinical genetics

authors： Silengo MC,Bell GL,Biagioli M,Franceschini P

更新日期：1987-05-01 00:00:00

abstract：:Ectodermal dysplasias are a group of genetic disorders defined by ectodermal derivative impairment (EDI). To test the impact of the Wnt/beta-catenin pathway in the genetic screening of EDI, we performed a molecular gene study of WNT10A in 60 subjects from a population of 133 young Italian patients referred for the imp...

journal_title：Clinical genetics

authors： Guazzarotti L,Tadini G,Mancini GE,Sani I,Pisanelli S,Galderisi F,D'Auria E,Secondi R,Bottero A,Zuccotti GV

更新日期：2018-03-01 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：:An autosomal dominant (AD) antecubital pterygium syndrome has been documented on the Indian Ocean Island of Rodrigues, and 11 affected family members in five generations have been studied over four decades. The consistent features include a fleshy web extending across the anterior aspect of the cubital fossa, absence ...

journal_title：Clinical genetics

authors： Wallis CE,Shun-Shin M,Beighton PH

更新日期：1988-07-01 00:00:00

abstract：:In a study of 95 presumably healthy, 40-42-year old males from Northen Sweden, the Lp(a) phenotype distribution differed between those who had, and those who did not have one or more close relatives (parent or sib) with coronary heart disease. In the former group, 60% of the males were Lp(a+), as opposed to 28% in the...

journal_title：Clinical genetics

authors： Berg K,Dahlén G,Børresen AL

更新日期：1979-11-01 00:00:00

abstract：:A study of the family of a patient who had an SLE-like syndrome and an extremely low serum C4 revealed an inheritance of C4 types and HLA region markers which indicated that the patient had 60--70% of "normal" C4 level prior to the onset of disease. Thus the extremely low C4 level during her disease may result from a ...

journal_title：Clinical genetics

authors： Cream JJ,Olaisen B,Teisberg P,Soler AV,Thompson RA

更新日期：1979-11-01 00:00:00

abstract：:Smoking behaviour is influenced by both genetic and environmental factors. Many years of twin and adoption studies have demonstrated that heritability is at least 50% responsible for both smoking initiation and smoking persistence. Furthermore, the extent, to which genetic and environmental factors contribute to smoki...

journal_title：Clinical genetics

authors： Li MD,Ma JZ,Beuten J

更新日期：2004-11-01 00:00:00

abstract：:A Danish pedigree with olivo-ponto-cerebellar ataxia, transmitted as an autosomal dominant trait through six generations, has been studied. Forty-nine individuals were affected, and the main signs were staggering, ataxic gait, dysmetria and dysarthria. Early symptoms were always imbalance and clumsiness. Clinical feat...

journal_title：Clinical genetics

authors： Pedersen L

更新日期：1980-06-01 00:00:00

abstract：:Cutis laxa (CL) syndromes comprise a rare group of multisystem disorders that share loose redundant skin folds as hallmark clinical feature. CL results from impaired elastic fiber assembly and homeostasis, and the known underlying gene defects affect different extracellular matrix proteins, intracellular trafficking, ...

journal_title：Clinical genetics

authors： Beyens A,Boel A,Symoens S,Callewaert B

更新日期：2021-01-01 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

authors： Ellis J,Pannell D

更新日期：2001-01-01 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：:In 1984, we interviewed 105 Belgian families with a Cystic Fibrosis (CF) child in order to assess the impact of the birth of their CF-child on subsequent family planning and to evaluate their attitudes towards prenatal diagnosis. Three years later, in 1987, they received a mailed questionnaire for an updating of the r...

journal_title：Clinical genetics

authors： Evers-Kiebooms G,Denayer L,Van den Berghe H

更新日期：1990-03-01 00:00:00

abstract：:We report here the clinical, genetic, and molecular characteristics of a large Chinese family exhibiting non-syndromic, late-onset autosomal dominant sensorineural hearing loss. Clinical evaluation revealed variable phenotypes of hearing loss in terms of severity and age-at-onset of disease in these subjects. Genome-w...

journal_title：Clinical genetics

authors： Cheng J,Han DY,Dai P,Sun HJ,Tao R,Sun Q,Yan D,Qin W,Wang HY,Ouyang XM,Yang SZ,Cao JY,Feng GY,Du LL,Zhang YZ,Zhai SQ,Yang WY,Liu XZ,He L,Yuan HJ

更新日期：2007-11-01 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

authors： Farra C,Nassar A,Arawi T,Ashkar H,Monsef C,Awwad J

更新日期：2014-08-01 00:00:00

abstract：:Pathogenic biallelic variants in the BLM/RECQL3 gene cause a rare autosomal recessive disorder called Bloom syndrome (BS). This syndrome is characterized by severe growth delay, immunodeficiency, dermatological manifestations and a predisposition to a wide variety of cancers, often multiple and very early in life. Lit...

journal_title：Clinical genetics

authors： Backers L,Parton B,De Bruyne M,Tavernier SJ,Van Den Bogaert K,Lambrecht BN,Haerynck F,Claes KBM

更新日期：2021-02-01 00:00:00