The delta F508 mutation in mild adult forms of cystic fibrosis (CF).

abstract：:Mutations in PCDH19, which encodes protocadherin 19, have been identified in epilepsy, mainly in affected females. We summarized the clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population. We screened for PCDH19 mutations in 75 girls diagnosed with Dravet syndrome (DS) without a SC...

journal_title：Clinical genetics

authors： Liu A,Xu X,Yang X,Jiang Y,Yang Z,Liu X,Wu Y,Wu X,Wei L,Zhang Y

更新日期：2017-01-01 00:00:00

abstract：:A study of 73 patients with the Sanfilippo syndrome (36 patients with Sanfilippo A disease, 23 with Sanfilippo B disease and 14 with Sanfilippo C disease) revealed both intertype and intratype variability. The course of the disease was relatively mild in Sanfilippo B disease and dementia was less severe. Type A showed...

journal_title：Clinical genetics

authors： van de Kamp JJ,Niermeijer MF,von Figura K,Giesberts MA

更新日期：1981-08-01 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：:The canonical wingless (Wnt) and fibroblast growth factor (FGF) signaling pathways involving CTNNB1 and TBX4, respectively, are crucial for the regulation of human development. Perturbations of these pathways and disruptions from biological homeostasis have been associated with abnormal morphogenesis of multiple organ...

journal_title：Clinical genetics

authors： Karolak JA,Szafranski P,Kilner D,Patel C,Scurry B,Kinning E,Chandler K,Jhangiani SN,Coban Akdemir ZH,Lupski JR,Popek E,Stankiewicz P

更新日期：2019-10-01 00:00:00

abstract：:In this review, we consider the motivation behind contemporary single nucleotide polymorphism (SNP) initiatives. Many of these initiatives are projected to involve large, population-based surveys. We therefore emphasize the utility of SNPs for genetic epidemiology studies. We start by offering an overview of genetic p...

journal_title：Clinical genetics

authors： Schork NJ,Fallin D,Lanchbury JS

更新日期：2000-10-01 00:00:00

abstract：:A genealogical survey of familial amyloid polyneuropathy in the Arao district of Japan was undertaken, and the data were analysed statistically. The survey revealed 92 patients (46 males and 46 females) in 9 families. Thirty-one of the patients (16 males and 15 females) are alive. For 44 patients, the mean age of onse...

journal_title：Clinical genetics

authors： Sakoda S,Suzuki T,Higa S,Ueji M,Kishimoto S,Hayashi A,Yasuda N,Takaba Y,Nakajima A

更新日期：1983-11-01 00:00:00

abstract：:Three siblings of Indian stock had profound bilateral conductive deafness with variable malformations of the external ears, stapedial abnormalities and facial paralysis. Their mother was similarly affected and inheritance of this private syndrome is evidently autosomal dominant. Some improvement of auditory function w...

journal_title：Clinical genetics

authors： Sellars S,Beighton P

更新日期：1983-05-01 00:00:00

abstract：:The life-span of Menkes syndrome patients is discussed in connection with a boy suffering from this disease who lived to the age of 13.5 years. The copper metabolism defect is described. Therapeutic trials, mainly copper substitution, and prospects are summed up. ...

journal_title：Clinical genetics

authors： Sander C,Niederhoff H,Horn N

更新日期：1988-03-01 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：:This paper reports on an investigation into the differences in image quality of different components used in a digital image processing system for chromosome analysis. As chromosome aberrations are important tools in the cloning of genes, it is important to know if the introduction of computerized analysis systems inc...

journal_title：Clinical genetics

authors： Nivall S,Holmquist D,Gustavsson T,Wahlström J

更新日期：1995-11-01 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：:The codominant expression of three HLA haplotypes was found in a healthy 21-year-old Black male, whose prometaphase karyotype was normal by light microscopy. He was the sibling of an antenatally diagnosed female fetus with a partial duplication of 6p. The duplication arose from a complex presumably balanced maternal c...

journal_title：Clinical genetics

authors： Morton CC,Brown JA,Kirsch IR,Evans GA,Mohanakumar T,Nance WE

更新日期：1986-01-01 00:00:00

abstract：:In a study of xanthomatosis in the county of Ostfold, Norway (approximately 220,000 inhabitants), it was found that 20% (37 out of 185) of the probands belonges to seven large kindreds where xanthomatosis and hyper-beta-lipoproteinaemia segregated. Almost complete ascertainment (99%) of living subjects in the sibships...

journal_title：Clinical genetics

authors： Heiberg A

更新日期：1976-01-01 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

authors： Gibson SL,Ferguson-Smith MA

更新日期：1980-08-01 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：:The disorders caused by mutations in genes encoding subunits and accessory proteins of cohesin complex are collectively termed as cohesinopathies. The best known cohesinopathy is Cornelia de Lange Syndrome (CdLS), which is a multisystem developmental disorder characterized by facial dysmorphism, limb malformations, gr...

journal_title：Clinical genetics

authors： Baquero-Montoya C,Gil-Rodríguez MC,Teresa-Rodrigo ME,Hernández-Marcos M,Bueno-Lozano G,Bueno-Martínez I,Remeseiro S,Fernández-Hernández R,Bassecourt-Serra M,Rodríguez de Alba M,Queralt E,Losada A,Puisac B,Ramos FJ,Pié J

更新日期：2014-05-01 00:00:00

abstract：:Two hundred and thirty-five survivors of myocardial infarction (MI) were compared to 384 controls with respect to distribution of genotypes and gene frequencies in the A1166C polymorphism at the angiotensin II type 1 receptor (AT1R) locus. No differences in allele frequencies or genotype distribution were observed whe...

journal_title：Clinical genetics

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

更新日期：1997-08-01 00:00:00

abstract：:Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinitis pigmentosa, obesity, polydactyly, cognitive impairment and renal failure. Pathogenic variants in 24 genes account for the molecular basis of >80% of cases. Toward saturated discovery of the mutational basis of the disorder, we carefully explored ou...

journal_title：Clinical genetics

authors： Delvallée C,Nicaise S,Antin M,Leuvrey AS,Nourisson E,Leitch CC,Kellaris G,Stoetzel C,Geoffroy V,Scheidecker S,Keren B,Depienne C,Klar J,Dahl N,Deleuze JF,Génin E,Redon R,Demurger F,Devriendt K,Mathieu-Dramard M,Po

更新日期：2021-02-01 00:00:00

abstract：:Glycogenosis type II (Pompe's disease) has been diagnosed using cultured amniotic cells for several years. In this paper, we present three prenatal diagnoses based on chorionic villi biopsy in three families at risk for Pompe's disease juvenile form: a normal fetus that was diagnosed and confirmed by enzymatic assay o...

journal_title：Clinical genetics

authors： Besançon AM,Castelnau L,Nicolesco H,Dumez Y,Poenaru L

更新日期：1985-05-01 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

authors： Ashida S,Hadley DW,Vaughn BK,Kuhn NR,Jenkins JF,Koehly LM

更新日期：2009-01-01 00:00:00

abstract：:Long non-coding RNAs (lncRNAs), a class of long RNAs, are longer than 200 nucleotides in length but lack protein-coding capacity. LncRNAs, as critical genomic regulators, are involved in genomic imprinting regulation, histone modification and gene expression regulation as well as tumor initiation and progression. Howe...

journal_title：Clinical genetics

authors： Zhang HD,Jiang LH,Zhong SL,Li J,Sun DW,Hou JC,Wang DD,Zhou SY,Tang JH

更新日期：2021-01-01 00:00:00

abstract：:A 14-year-old boy is reported with bilateral hypoplastic patellae and multiple congenital skeletal anomalies. Since this constellation of bony malformations has not been described previously, we believe this represents a new syndrome most probably of genetic etiology. ...

journal_title：Clinical genetics

authors： Sandhaus YS,Ben-Ami T,Chechick A,Goodman RM

更新日期：1987-03-01 00:00:00

abstract：:Neurofibromatosis 2 (NF2) is caused by mutations in the NF2 gene predisposing carriers to develop nervous system tumours. Different NF2 mutations result in either loss/reduced protein function or gain of protein function (abnormally behaving mutant allele i.e. truncated protein potentially causing dominant negative ef...

journal_title：Clinical genetics

authors： Selvanathan SK,Shenton A,Ferner R,Wallace AJ,Huson SM,Ramsden RT,Evans DG

更新日期：2010-02-01 00:00:00

abstract：:There are at least nine major cancer susceptibility syndromes that infer an increased risk for colorectal cancer and/or colorectal polyposis; hereditary nonpolyposis colorectal cancer syndrome, Muir-Torre syndrome, Turcot syndrome, the I1307K polymorphism of the APC gene, familial adenomatous polyposis, attenuated fam...

journal_title：Clinical genetics

authors： Hampel H,Peltomaki P

更新日期：2000-08-01 00:00:00

abstract：:Myotonic dystrophy (MD) is an autosomal dominant disorder that has a high prevalence in Saguenay-Lac-St-Jean. A case-control study, based on a population register, of 373 MD patients who married in this region between 1855 and 1971 was conducted to determine whether their fertility was affected by the disorder. Six de...

journal_title：Clinical genetics

authors： Dao TN,Mathieu J,Bouchard JP,De Braekeleer M

更新日期：1992-11-01 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：:An emerging challenge facing those who are concerned about the efficacy of public health programs is to understand how information from the DNA revolution might be used to improve our ability to predict the initiation, progression and severity of a common disease having a complex multifactorial etiology. In the course...

journal_title：Clinical genetics

authors： Sing CF,Zerba KE,Reilly SL

更新日期：1994-07-01 00:00:00

abstract：:A 32-year-old mentally retarded woman was found to have a complex rearrangement of one chromosome 4. Her karyotype is interpreted as 46,XX,inv(4) (pter----p14::q12----p14::q12----qter) del (4) (pter----15.33::p15.2----qter). Clinically she does not show the features of the Wolf-Hirschhorn syndrome. Her phenotype and c...

journal_title：Clinical genetics

authors： Romain DR,Columbano-Green LM,Parfitt RG,Chapman CJ,Smythe RH,Gebbie OB

更新日期：1985-08-01 00:00:00

abstract：:Specific chromosome rearrangements associated with disease entities are invaluable resources for physical mapping. A deletion on the X chromosome of a male leads to the nullisomy for X-linked genes, resulting in the onset of genetic diseases and/or the absence of the DNA probe detectable sequences. This permits the lo...

journal_title：Clinical genetics

authors： Yang HM,Lund T,Niebuhr E,Nørby S,Schwartz M,Shen L

更新日期：1990-08-01 00:00:00

abstract：:Four independently ascertained children who presented with unusual facies and delayed mental and physical development were found to have a similar deletion of part of the long arm of chromosome 7 (46,XX or XY, del(7)(q32); 46,XX or XY,del(7)(pter leads to q32:)). Comparison of the findings of these four cases with one...

journal_title：Clinical genetics

authors： Harris EL,Wappner RS,Palmer CG,Hall B,Dinno N,Seashore MR,Breg WR

更新日期：1977-10-01 00:00:00