The role of long non-coding RNAs in drug resistance of cancer.

abstract：:Primary cilia are microtubule-rich hair-like extensions protruding from the surface of most post-mitotic cells. They act as sensory organelles that help interpret various environmental cues. Mutations in genes encoding proteins involved in ciliogenesis or protein transport to the primary cilia lead to a wide variety o...

journal_title：Clinical genetics

authors： Ramamurthy V,Cayouette M

更新日期：2009-08-01 00:00:00

abstract：:We report molecular and clinical analyses in 71 unrelated patients with cystic fibrosis (CF) from Andalusia (South of Spain). Direct mutation analysis of six mutations of the CFTR gene (delta F508, G542X, R1162X, N1303K, W1182X and 1949de184) was performed. The proportion of CF chromosomes with the above-mentioned mut...

journal_title：Clinical genetics

authors： Borrego S,Casals T,Dapena J,Fernández E,Giménez J,Cabeza JC,Sánchez J,Antiñolo G

更新日期：1994-10-01 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：:Reciprocal translocations were studied in two groups of balanced carrier couples: 202 had 210 translocation aneuploid between (LB) infants, and 95 couples had repetitive abortions (AB) without liveborn aneuploids. The observed translocation aneuploidies in the LB group were compared to predicted potential aneuploidies...

journal_title：Clinical genetics

authors： Davis JR,Rogers BB,Hagaman RM,Thies CA,Veomett IC

更新日期：1985-01-01 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 4-year-old Saudi female child with extreme failure to thrive, striking dysmorphic features, developmental delay, congenital hypoparathyroidism, UTI, seizures, chronic otitis media, chronic non-specific gastroenteritis and repeated life-threatening infections was followed from birth. She was the product of first-cous...

journal_title：Clinical genetics

authors： Kalam MA,Hafeez W

更新日期：1992-09-01 00:00:00

abstract：:The advent of whole-exome next-generation sequencing (WES) has been pivotal for the molecular characterization of Mendelian disease; however, the clinical applicability of WES has remained relatively unexplored. We describe our exploration of WES as a diagnostic tool in a 3½-year old female patient with a 2-year histo...

journal_title：Clinical genetics

authors： Hanchard NA,Murdock DR,Magoulas PL,Bainbridge M,Muzny D,Wu Y,Wang M,Lupski JR,Gibbs RA,Brown CW

更新日期：2013-05-01 00:00:00

abstract：:A family is reported with an autosomal dominant inherited syndrome presenting some of the typical features of the tricho-rhino-phalangeal syndrome type II (TRP II) or Langer-Giedion syndrome. The critical region for the expression of the syndrome seems to be at band 8q24.1. In the affected members of the family report...

journal_title：Clinical genetics

authors： Shabtai F,Sandowski U,Nissimov R,Klar D,Halbrecht I

更新日期：1985-06-01 00:00:00

abstract：:A total of 206 patients with Marfan syndrome were ascertained throughout genetic clinics in Wales and Scotland during the period 1970-1990. There were 45 deaths representing 22% of the cohort. Mean age at death was 45.3+/-16.5 years. 50% median cumulative survival in the total cohort (n=206) was 53 years for males and...

journal_title：Clinical genetics

authors： Gray JR,Bridges AB,West RR,McLeish L,Stuart AG,Dean JC,Porteous ME,Boxer M,Davies SJ

更新日期：1998-08-01 00:00:00

abstract：:Approximately one in three individuals will be affected by cancer in their lifetime in the United States, and some are at elevated risk because of family history. Although assessment of family history of cancer and cancer risk is the standard of care, the current health-care system appears unable to meet this need. Be...

journal_title：Clinical genetics

authors： Kelly KM,Sweet K

更新日期：2007-01-01 00:00:00

abstract：:Transient neonatal diabetes mellitus (TNDM) usually develops within the first few weeks of life and resolves at a median age of 3 months. In most of the cases, TNDM is caused by the over-expression of a paternally expressed imprinted PLAGL1 locus on chromosome 6q24. The most frequent manifestation other than TNDM is i...

journal_title：Clinical genetics

authors： Suzuki S,Fujisawa D,Hashimoto K,Asano T,Maimaiti M,Matsuo K,Tanahashi Y,Mukai T,Fujieda K

更新日期：2010-12-01 00:00:00

abstract：:Halperin et al. (Halperin JM. Newcorn JH, Koda VH, Pick L, McKay KE, Knott P. Noradrenergic mechanisms in ADHD children with and without reading disabilities: a replication and extension. J Am Acad Child Adolesc Psychiatry 1997: 36: 1688 1696) reported a significant increase in plasma norepinephrine (NE) in attention-...

journal_title：Clinical genetics

authors： Comings DE,Gade-Andavolu R,Gonzalez N,Blake H,Wu S,MacMurray JP

更新日期：1999-03-01 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：:Phenotypic expression of the 47,XYY chromosome complement in man has been investigated mostly in terms of the central nervous system. Evidence is presented here to suggest that urinary tract malformation may be a component of the XYY syndrome; this should be taken into account when counselling parents of children wit...

journal_title：Clinical genetics

authors： Machin GA

更新日期：1978-12-01 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：:Single nucleotide polymorphisms (SNPs) are genetic variations that contribute to human phenotypes associated with various diseases. SNPs are involved in the regulation of a broad range of physiological and pathological processes, such as cellular senescence, apoptosis, inflammation, and immune response, by upregulatin...

journal_title：Clinical genetics

authors： Liu X,Han Z,Yang C

更新日期：2017-09-01 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：:Hereditary non-polyposis colorectal cancer (HNPCC) may be the result of Lynch syndrome (LS) caused by mutations in mismatch repair (MMR) genes, a syndrome of unknown etiology called familial colorectal cancer type-X (FCCTX), or familial serrated neoplasia associated with the colorectal cancer (CRC) somatic BRAF mutati...

journal_title：Clinical genetics

authors： Warden G,Harnett D,Green J,Wish T,Woods MO,Green R,Dicks E,Rahman P,Zhai G,Parfrey P

更新日期：2013-12-01 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：:We investigated whether an association exists between genetic variants of the human obesity (OB or leptin) gene and body mass index (BMI) or weight in subjects with Prader Willi syndrome (PWS) and in age- and gender-matched lean and obese subjects without PWS. The study included 51 subjects with PWS (mean age = 17.7 +...

journal_title：Clinical genetics

authors： Butler MG,Hedges L,Hovis CL,Feurer ID

更新日期：1998-11-01 00:00:00

abstract：:On the fifth day after subcultivation,, fibroblasts of two unrelated patients with adrenoleukodystrophy (Siemerling-Creutzfeldt disease (SCD)) developed typical morphologic anomalies which could be seen by light microscopy. From skin biopsy material of an obligatorily heterozygous womam, both normal and morphologicall...

journal_title：Clinical genetics

authors： Ropers HH,Zimmermann J,Wienker T

更新日期：1977-02-01 00:00:00

abstract：:The locus for a type of an autosomal recessive non-syndromic deafness (ARND), DFNB13, was previously mapped to a 17-cm interval of chromosome 7q34-36. We identified two consanguineous Tunisian families with severe to profound ARND. Linkage analyses with microsatellites surrounding the previously identified loci detect...

journal_title：Clinical genetics

authors： Masmoudi S,Charfedine I,Rebeh IB,Rebai A,Tlili A,Ghorbel AM,Belguith H,Petit C,Drira M,Ayadi H

更新日期：2004-10-01 00:00:00

abstract：:RNA exosome is a highly conserved ribonuclease complex essential for RNA processing and degradation. Bi-allelic variants in exosome subunits EXOSC3, EXOSC8 and EXOSC9 have been reported to cause pontocerebellar hypoplasia type 1B, type 1C and type 1D, respectively, while those in EXOSC2 cause short stature, hearing lo...

journal_title：Clinical genetics

authors： Somashekar PH,Kaur P,Stephen J,Guleria VS,Kadavigere R,Girisha KM,Bielas S,Upadhyai P,Shukla A

更新日期：2021-01-19 00:00:00

abstract：:In the Arab population of Kuwait of approximately 1.3 million, 26 cases in 15 families were ascertained to have Bardet-Biedl syndrome (20 cases in 13 families) or Laurence-Moon syndrome (6 cases in 2 families). The apparently increased frequency of these interrelated autosomal recessive syndromes in Arabs is discussed...

journal_title：Clinical genetics

authors： Farag TI,Teebi AS

更新日期：1988-02-01 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：:A female with clinical features of familial articular hypermobility syndrome (FAHS) and her family were studied. The subject showed generalized hypermobility, except for a painful shoulder which presented functional limitation with a diagnosis of painful shoulder syndrome. Biochemical studies demonstrated that collage...

journal_title：Clinical genetics

authors： García-Cruz D,Cano-Colín S,Sánchez-Corona J,Gallegos MP,Chimal-Monroy J,Díaz-de-León L

更新日期：1998-02-01 00:00:00

abstract：:We present a dysmorphic syndrome in eight males of the same family (four brothers, three cousins and one uncle) that is characterised by: mental retardation, facial dysmorphia, abnormal growth of teeth, skin dimple at the lower back, clinodactyly, patella luxation, malformation of lower limbs, abnormalities of the fun...

journal_title：Clinical genetics

authors： Prieto F,Badía L,Mulas F,Monfort A,Mora F

更新日期：1987-11-01 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：: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：:Germline mutations (eg, BRCA1/2) have prognostic and treatment implications for ovarian cancer (OVCA) patients. Thus, national guidelines recommend genetic testing for OVCA patients. The present study examines patterns and predictors of genetics referral in OVCA patients. Electronic medical record data were abstracted...

journal_title：Clinical genetics

authors： Mallen AR,Conley CC,Townsend MK,Wells A,Boac BM,Todd S,Gandhi A,Kuznicki M,Augusto BM,McIntyre M,Fridley BL,Tworoger SS,Wenham RM,Vadaparampil ST

更新日期：2020-02-01 00:00:00