Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia.

abstract：:Gynecological cancers pose a significant threat to women's health worldwide, with cervical cancer, ovarian cancer, and endometrial cancer having high incidences. Current gynecological cancer treatment methods mainly include surgery, chemotherapy, radiotherapy, and chemoradiotherapy. The CRISPR-Cas9 gene editing techno...

journal_title：Clinical genetics

authors： Zhang W,Liu Y,Zhou X,Zhao R,Wang H

更新日期：2020-06-01 00:00:00

abstract：:Most publications on the ethical aspects of genetic research into Alzheimer's Disease (AD) concentrate on the differences between the opinions of professionals and non-professionals. Differences in rating of morally relevant issues between groups of professionals have not yet been described. A modified Delphi study in...

journal_title：Clinical genetics

authors： van der Vorm A,van der Laan AL,Borm G,Vernooij-Dassen M,Olde Rikkert M,van Leeuwen E,Dekkers W

更新日期：2010-04-01 00:00:00

abstract：:Galactokinase deficient fibroblasts are not distinguishable from galactosemic fibroblasts by a test suggested earlier by Hill & Puck (1973). They can be so distinguished by the test described here, since they are unable to incorporate radioactive galactose into TCA-insoluble material under normal conditions of incubat...

journal_title：Clinical genetics

authors： Hill HZ

更新日期：1975-09-01 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：:Methods are presented to estimate relative fitness of carriers as a function of fertility, survival, are generation time in pedigrees under incomplete ascertainment. A large sample of diverse chromosomal aberrations reveals significant effects on all three parameters, giving a relative fitness of .769 +/- .039. There ...

journal_title：Clinical genetics

authors： Morton NE,Jacobs PA,Frackiewicz A,Law P,Hilditch CJ

更新日期：1975-09-01 00:00:00

abstract：:The significance of variation within the genes coding for three glucose transporter proteins in the aetiology of non-insulin dependent diabetes mellitus was assessed by analysing restriction fragment length polymorphisms in an English Caucasian population. Two polymorphisms at the HepG2/erythrocyte glucose transporter...

journal_title：Clinical genetics

authors： Oelbaum RS

更新日期：1992-11-01 00:00:00

abstract：:In the rare developmental disorder Roberts' syndrome, prophase and metaphase chromosomes display premature sister-chromatid separation, most prominently at certain regions in which the chromatin is composed of highly reiterated base sequences. In addition, interphase nuclei present a striking distortion in their conto...

journal_title：Clinical genetics

authors： German J

更新日期：1979-12-01 00:00:00

abstract：:Dermatoglyphic findings were compared in 38 Prader-Willi syndrome (PWS) patients and 270 normal controls. Twenty-one of the PWS patients had an interstitial deletion of the proximal long arm of chromosome 15 and seventeen PWS cases had normal chromosomes. Findings in PWS are not diagnostic but do show some consistent ...

journal_title：Clinical genetics

authors： Reed T,Butler MG

更新日期：1984-04-01 00:00:00

abstract：:Evaluation of the performance of 17-18-year-old high school students on standard intelligence tests confirms previous reports that nearsighted persons consistently achieve scores approximately eight I.O. points higher than non-myopes. Comparison of tests administered to the same students 10 years earlier suggests that...

journal_title：Clinical genetics

authors： Karlsson JL

更新日期：1975-11-01 00:00:00

abstract：BACKGROUND:A genetic test for hemochromatosis has allowed for the first time, genotypic identification of heterozygotes. The purpose of this study is to determine whether genotyping of spouses of homozygotes results in fewer investigations of children and subsequent cost savings. METHODS:Two hundred and ninety one chi...

journal_title：Clinical genetics

authors： Adams PC

更新日期：1998-03-01 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：: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：: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：:Adverse drug reactions, due at least in part to interindividual variability in drug response, rank between the 4th and 6th leading causes of death in the USA. The field of 'pharmacogenetics', which is 'the study of variability in drug response due to heredity', should help in reducing drug-caused morbidity and mortali...

journal_title：Clinical genetics

authors： Nebert DW

更新日期：1999-10-01 00:00:00

abstract：:We identified the homozygous p.Arg12* variant in 5 patients with neurodevelopmental delay, but variation databases list many truncating heterozygous variants for this small 2-exon gene. As most of these affect the protein's C-terminus, loss-of-function mediated pathogenicity may be confined to bi-allelic truncating va...

journal_title：Clinical genetics

authors： Yavuz H,Bertoli-Avella AM,Alfadhel M,Al-Sannaa N,Kandaswamy KK,Al-Tuwaijri W,Rolfs A,Brandau O,Bauer P

更新日期：2018-10-01 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：:This qualitative study explored the impact of genetic risk information from BRCA1/2 testing on individuals' subjective understandings of self and self-identity. In-depth interviews were conducted with 39 participants (34 women and 5 men) who had received test results from BRCA1/2 testing. Themes emerging from qualitat...

journal_title：Clinical genetics

authors： d'Agincourt-Canning L

更新日期：2006-12-01 00:00:00

abstract：:A psoriatic osteoarthropathy localized in the left quadrant of a male patient is described. Diagnosis was made on the basis of bone scintigraphy (specific distribution pattern) and histological evaluation of a bone biopsy. There is no indication of psoriasis in the patient's family. Nor is there an association to psor...

journal_title：Clinical genetics

authors： Holzmann H,Schmitt M,Happle R,Kaltwasser P,Hör G

更新日期：1994-08-01 00:00:00

abstract：:A large 15p + chromosome with a whole heterochromatic short arm has been studied by means of different banding techniques in six of nine individuals of a family; a possible Y/15 translocation has been excluded. Furthermore a heteromorphic pair 9 has been observed in seven family members, representing a "possible" smal...

journal_title：Clinical genetics

authors： Werner W,Herrmann FH

更新日期：1984-09-01 00:00:00

abstract：:We report a family in which a woman with the mosaic karyotype 45,X/46,X,del(X)(p21.2) transmitted the deleted X chromosome to two daughters. The nature of the deletion was confirmed by fluorescent in situ hybridization (FISH). All three family members showed somatic Ullrich-Turner syndrome features, but only one daugh...

journal_title：Clinical genetics

authors： Zinn AR,Ouyang B,Ross JL,Varma S,Bourgeois M,Tonk V

更新日期：1997-10-01 00:00:00

abstract：:XLαs, the extra-large isoform of alpha-subunit of the stimulatory guanine nucleotide-binding protein (Gsα), is paternally expressed. The significance of XLαs in humans remains largely unknown. Here, we report a patient who presented with increased bone mass, hypophosphatemia, and elevated parathyroid hormone (PTH) lev...

journal_title：Clinical genetics

authors： Chen X,Meng Y,Tang M,Wang Y,Xie Y,Wan S,Tian H,Yu X

更新日期：2020-05-01 00:00:00

abstract：:Previous studies have investigated the close association that exists between CAG repeat number and the age at onset in SCA2 = spinocerebellar ataxia type 2. These studies have focused on affected individuals. To further characterize this association and estimate the risk of a carrier developing SCA2 at a particular ag...

journal_title：Clinical genetics

authors： Almaguer-Mederos LE,Falcón NS,Almira YR,Zaldivar YG,Almarales DC,Góngora EM,Herrera MP,Batallán KE,Armiñán RR,Manresa MV,Cruz GS,Laffita-Mesa J,Cyuz TM,Chang V,Auburger G,Gispert S,Pérez LV

更新日期：2010-08-01 00:00:00

abstract：:To obtain insight into the genetic variation of the low-density lipoprotein (LDL) receptor gene in Korean patients with familial hypercholesterolemia (FH), we used single-strand conformation polymorphism to screen all 18 exons and a promotor of the LDL receptor gene in 20 unrelated Korean FH patients. Four novel point...

journal_title：Clinical genetics

authors： Shin JA,Kim SH,Kim UK,Chae JJ,Choe SJ,Namkoong Y,Kim HS,Park YB,Lee CC

更新日期：2000-03-01 00:00:00

abstract：:For Incontinentia pigmenti Bloch-Sulzberger (IP) and Aicardi syndrome, an X-linked dominant transmission with lethality in hemizygous males has been proposed. The typical transition from inflammation to verrucous hypertrophy and hyperpigmented skin areas in IP suggests a gradual replacement of defective cells by norma...

journal_title：Clinical genetics

authors： Wieacker P,Zimmer J,Ropers HH

更新日期：1985-09-01 00:00:00

abstract：:We report on a patient with Marfan's syndrome, with coexistent obstructive sleep hypopnea (OSH) and restrictive lung disease, complicated by respiratory insufficiency, who was successfully treated with nasal intermittent positive airway pressure (NIPPV) and oxygen. NIPPV therapy turned out to be effective on arterial ...

journal_title：Clinical genetics

authors： Verbraecken J,Paelinck BP,Willemen M,Van de Heyning P,De Backer W

更新日期：2003-02-01 00:00:00

abstract：:Poland anomaly and facio-auriculo-vertebral dysplasia are considered to be separate entities. We describe a 3-year-old boy with features of both Poland anomaly and facio-auriculo-vertebral dysplasia. This is the first report, to our knowledge, of this combination of birth defects. Possible pathogenetic implications ar...

journal_title：Clinical genetics

authors： Cobben JM,van Essen AJ,McParland PC,Polman HA,ten Kate LP

更新日期：1992-02-01 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 this report, we describe a male infant with a 45,X karyotype; the entire short arm and the centromere of the Y chromosome were translocated onto the short arm of chromosome 18, resulting in an unbalanced dicentric chromosome. Breakpoints were identified by in situ fluorescence hybridization (FISH) on the proximal Y...

journal_title：Clinical genetics

authors： Gimelli G,Cinti R,Varone P,Naselli A,Di Battista E,Pezzolo A

更新日期：1996-01-01 00:00:00

abstract：:Triglyceride synthesis is catalyzed by acyl CoA:diacylglycerol acyltransferases (DGAT), microsomal enzymes that use diacylglycerol and fatty acyl CoAs as substrates. Because DGAT1 expression is up-regulated during adipocyte differentiation and DGAT1 deficiency is associated with leanness in mice, we hypothesized that ...

journal_title：Clinical genetics

authors： Ludwig EH,Mahley RW,Palaoglu E,Ozbayrakçi S,Balestra ME,Borecki IB,Innerarity TL,Farese RV Jr

更新日期：2002-07-01 00:00:00

abstract：:The ability of statins to strongly reduce low-density lipoprotein cholesterol (LDL-C) varies interindividually and is partially influenced by genetic variants. Based on a comprehensive analysis of 23 single nucleotide polymorphisms (SNPs) known to be associated with pharmacokinetics and dynamics of statins, we develop...

journal_title：Clinical genetics

authors： Ciuculete DM,Bandstein M,Benedict C,Waeber G,Vollenweider P,Lind L,Schiöth HB,Mwinyi J

更新日期：2017-03-01 00:00:00