Two novel frameshift mutations in the low density lipoprotein receptor gene generated by endogenous sequence-directed mechanisms.

abstract：:Postnatal growth records of 13 patients with Wolf-Hirschhorn syndrome indicate that the syndrome is associated with continuing severe growth retardation and marked microcephaly. In spite of severe retardation, these patients (with one exception) survived beyond infancy. ...

journal_title：Human genetics

authors： Fujimoto A,Wilson MG

更新日期：1990-02-01 00:00:00

abstract：:Field inversion gel electrophoresis (FIGE) of SfiI-digested chromosomal DNA was used to demonstrate a 50-kb deletion in one allele of the gene encoding the beta subunit of human hexosaminidase (HEXB at 5q13) of two apparently unrelated patients with Sandhoff disease. In conventional electrophoretic restriction analysi...

journal_title：Human genetics

authors： Bikker H,van den Berg FM,Wolterman RA,de Vijlder JJ,Bolhuis PA

更新日期：1989-02-01 00:00:00

abstract：:Polyclonal antibodies were obtained from rabbits by injection of iduronate sulfatase purified 35,000-fold from human placenta, after elution of the enzyme from sodium dodecyl sulfate (SDS) polyacrylamide gels. The specificity of these antibodies towards iduronate sulfatase was demonstrated by immunoprecipitation of en...

journal_title：Human genetics

authors： Daniele A,Di Natale P

更新日期：1987-03-01 00:00:00

abstract：:Schwannomas may develop sporadically or in association with NF2 and schwannomatosis. The fundamental aberration in schwannomas is the bi-allelic inactivation of the NF2 gene. However, clinical and molecular data suggest that these tumors share a common pathogenetic mechanism related to as yet undefined 22q-loci. Linka...

journal_title：Human genetics

authors： Díaz de Ståhl T,Hansson CM,de Bustos C,Mantripragada KK,Piotrowski A,Benetkiewicz M,Jarbo C,Wiklund L,Mathiesen T,Nyberg G,Collins VP,Evans DG,Ichimura K,Dumanski JP

更新日期：2005-10-01 00:00:00

abstract：:Otosclerosis is a common form of hearing loss characterized by abnormal bone remodeling in the otic capsule. It is considered a complex disease caused by both genetic and environmental factors. In a previous study, we identified a region on chr7q22.1 located in the RELN gene that is associated with otosclerosis in Bel...

journal_title：Human genetics

authors： Schrauwen I,Ealy M,Fransen E,Vanderstraeten K,Thys M,Meyer NC,Cosgarea M,Huber A,Mazzoli M,Pfister M,Smith RJ,Van Camp G

更新日期：2010-02-01 00:00:00

abstract：:The alpha 207 Leu-->Pro mutation in spectrin has recently been identified as a cause of alpha I/50-46a hereditary elliptocytosis (HE) or pyropoikilocytosis among Black people. We have found this mutation in a Moroccan family in both the heterozygous and homozygous states. The mutated alpha-spectrin allele carried, in ...

journal_title：Human genetics

authors： Dalla Venezia N,Wilmotte R,Morlé L,Forissier A,Parquet N,Garbarz M,Rousset T,Dhermy D,Alloisio N,Delaunay J

更新日期：1993-02-01 00:00:00

abstract：:A cloned cDNA probe encoding human factor IX was used for detecting homologous sequences in rodent human X chromosome hybrids and in human metaphase chromosome preparations. The results of these studies indicate that human factor IX is localized to the Xq27 leads to Xqter region. ...

journal_title：Human genetics

authors： Chance PF,Dyer KA,Kurachi K,Yoshitake S,Ropers HH,Wieacker P,Gartler SM

更新日期：1983-01-01 00:00:00

abstract：:Hereditary nonpolyposis colorectal cancer (HN-PCC) is one of man's commonest hereditary diseases. Several studies have identified four responsible genes that are involved in a process known as DNA mismatch repair; hMSH2 is the most important of these four genes. In addition to mutational analysis of these genes, inves...

journal_title：Human genetics

authors： Scherer SJ,Seib T,Seitz G,Dooley S,Welter C

更新日期：1996-01-01 00:00:00

abstract：:An 8-month-old female child with the 9p- karyotype: 46,XX,del(9) (p22) is presented, being the first case from among Oriental people. She has many clinical features similar to those described in Caucasian cases. ...

journal_title：Human genetics

authors： Kuroki Y,Yokota S,Nakai H,Yamamoto Y,Matsui I

更新日期：1977-08-31 00:00:00

abstract：:Single nucleotide polymorphisms (SNPs) can significantly contribute to the characterization of the genes predisposing to iron overloads or deficiencies. We report an SNP survey of coding and non-coding regions of eight genes involved in iron metabolism, by two successive methods. First, we made use of the public domai...

journal_title：Human genetics

authors： Douabin-Gicquel V,Soriano N,Ferran H,Wojcik F,Palierne E,Tamim S,Jovelin T,McKie AT,Le Gall JY,David V,Mosser J

更新日期：2001-10-01 00:00:00

abstract：:We present a linkage study in a four-generation autosomal dominant cerebellar ataxia (ADCA) family of Dutch ancestry. The family shows a clinically and genetically distinct form of ADCA. This neurodegenerative disorder manifests in the family as a relatively mild ataxia syndrome with some additional characteristic sym...

journal_title：Human genetics

authors： Verbeek DS,Schelhaas JH,Ippel EF,Beemer FA,Pearson PL,Sinke RJ

更新日期：2002-10-01 00:00:00

abstract：:A reciprocal translocation involving chromosomes Nos. 3 and 22 has been found in a patient with seemingly Ph-negative chronic myelogenous leukemia (CML). G-band analysis revealed, that deletion in No. 22 occurred at the same point, as in the typical cases of the disease. It was concluded, that breakage in No. 22 at a ...

journal_title：Human genetics

authors： Pravtcheva D,Andreeva P,Tsaneva R

更新日期：1976-05-19 00:00:00

abstract：:Biallelic mutations of UBE3B have recently been shown to cause Kaufman oculocerebrofacial syndrome (also reported as blepharophimosis-ptosis-intellectual disability syndrome), an autosomal recessive condition characterized by hypotonia, developmental delay, intellectual disability, congenital anomalies, characteristic...

journal_title：Human genetics

authors： Basel-Vanagaite L,Yilmaz R,Tang S,Reuter MS,Rahner N,Grange DK,Mortenson M,Koty P,Feenstra H,Farwell Gonzalez KD,Sticht H,Boddaert N,Désir J,Anyane-Yeboa K,Zweier C,Reis A,Kubisch C,Jewett T,Zeng W,Borck G

更新日期：2014-07-01 00:00:00

abstract：:Genetic syndromes involving both brain and eye abnormalities are numerous and include syndromes such as Warburg micro syndrome, Kaufman oculocerebrofacial syndrome, Cerebro-oculo-facio-skeletal syndrome, Kahrizi syndrome and others. Using exome sequencing, we have been able to identify homozygous mutation p.(Tyr39Cys)...

journal_title：Human genetics

authors： Basel-Vanagaite L,Smirin-Yosef P,Essakow JL,Tzur S,Lagovsky I,Maya I,Pasmanik-Chor M,Yeheskel A,Konen O,Orenstein N,Weisz Hubshman M,Drasinover V,Magal N,Peretz Amit G,Zalzstein Y,Zeharia A,Shohat M,Straussberg R,Mont

更新日期：2015-06-01 00:00:00

abstract：:The activity of complex I of the mitochondrial respiratory chain has been found to be decreased in patients with Parkinson's disease (PD), but no mutations have been identified in genes encoding complex I subunits. Recent studies have suggested that polymorphisms in mitochondrial DNA (mtDNA)-encoded complex I genes (M...

journal_title：Human genetics

authors： Autere J,Moilanen JS,Finnilä S,Soininen H,Mannermaa A,Hartikainen P,Hallikainen M,Majamaa K

更新日期：2004-06-01 00:00:00

abstract：:Two new variants of erythrocyte glucose 6-phosphate dehydrogenase are discovered in 3 unrelated Ashkenazi Jew patients with severe deficiency of enzyme. Both variants have a resemblance to 2 other variants in Ashkenazi: G6PD Boston and G6PD Kilgore, but have a significantly higher affinity for substrates and their ana...

journal_title：Human genetics

authors： Shatskaya TL,Krasnopolskaya KD,Idelson LJ

更新日期：1976-07-27 00:00:00

abstract：:Adenine phosphoribosyltransferase (APRT) deficiency leading to 2,8-dihydroxyadenine (DHA) urolithiasis has been considered a rare cause of urolithiasis and renal insufficiency. We have examined samples from 19 Japanese families with DHA lithiasis. In 79% of the families, patients only partially lacked hemolysate APRT ...

journal_title：Human genetics

authors： Kamatani N,Terai C,Kuroshima S,Nishioka K,Mikanagi K

更新日期：1987-02-01 00:00:00

abstract：:While recent studies have revealed a substantial portion of the genes underlying human hearing loss, the extensive genetic landscape has not been completely explored. Here, we report a loss-of-function variant (c.72delA) in MPZL2 in three unrelated multiplex families from Turkey and Iran with autosomal recessive nonsy...

journal_title：Human genetics

authors： Bademci G,Abad C,Incesulu A,Rad A,Alper O,Kolb SM,Cengiz FB,Diaz-Horta O,Silan F,Mihci E,Ocak E,Najafi M,Maroofian R,Yilmaz E,Nur BG,Duman D,Guo S,Sant DW,Wang G,Monje PV,Haaf T,Blanton SH,Vona B,Walz K,Te

更新日期：2018-07-01 00:00:00

abstract：:Peripheral blood sister chromatid exchange (SCE) rates in chronic cigarette smokers and in subjects with cancer do not differ from those in healthy nonsmokers. SCE patterns were normal in 69 chronic cigarette smokers, including 62 patients with untreated lung cancer. In three chronic smokers with lung cancer, high SCE...

journal_title：Human genetics

authors： Hollander DH,Tockman MS,Liang YW,Borgaonkar DS,Frost JK

更新日期：1978-10-31 00:00:00

abstract：:Three common alleles, epsilon2, epsilon3, and epsilon4, of the gene coding for apolipoprotein E (apoE) have been identified as predictors of interindividual variation in measures of lipid and lipoprotein metabolism, and ultimately risk of coronary heart disease (CHD), within many populations. Here we evaluated the uti...

journal_title：Human genetics

authors： Stengård JH,Weiss KM,Sing CF

更新日期：1998-08-01 00:00:00

abstract：:Split hand/foot malformation (SHFM) with long bone deficiency (SHFLD) is a distinct entity in the spectrum of ectrodactylous limb malformations characterised by associated tibial a/hypoplasia. Pedigrees with multiple individuals affected by SHFLD often include non-penetrant intermediate relatives, making genetic mappi...

journal_title：Human genetics

authors： Babbs C,Heller R,Everman DB,Crocker M,Twigg SR,Schwartz CE,Giele H,Wilkie AO

更新日期：2007-09-01 00:00:00

abstract：:Disorders of the anterior segment of the eye encompass a variety of clinical presentations including aniridia, Axenfeld and Rieger anomalies, primary congenital glaucoma, Peters anomaly, as well as syndromal associations. These conditions have a significant impact on vision due to disruption of the visual axis, and al...

journal_title：Human genetics

authors： Ma AS,Grigg JR,Jamieson RV

更新日期：2019-09-01 00:00:00

abstract：:A large partially inbred kindred segregating Tangier disease is analyzed for linkage to seventeen informative markers. Three criteria were developed to classify heterozygotes and each criterion's validity was subsequently evaluated by assessing the pedigree distribution of diagnoses for internal consistency. The resul...

journal_title：Human genetics

authors： Suarez BK,Schonfeld G,Sparkes RS

更新日期：1982-01-01 00:00:00

abstract：:A pachytene chromomere map of bivalent 10 is presented. Recent results from high-resolution metaphase banding document a similar pattern of intrachromosomal differentiation. ...

journal_title：Human genetics

authors： Hungerford DA,Hungerford AM

更新日期：1979-11-01 00:00:00

abstract：:Ten restriction fragment length polymorphisms of the LDL receptor gene were used for haplotype analysis in 12 unrelated patients with homozygous familial hypercholesterolemia. These patients were drawn from the Black, Coloured, and White population groups and collectively represent 24 mutant alleles underlying the FH ...

journal_title：Human genetics

authors： Henderson HE,Kotze MJ,Berger GM

更新日期：1989-08-01 00:00:00

abstract：:Infertility affects 10% of reproductive-age women and is extremely heterogeneous in etiology. The genetic contribution to female infertility is incompletely understood, and involves chromosomal and single-gene defects. Our aim in this study is to decipher single-gene causes in infertile women in whom endocrinological,...

journal_title：Human genetics

authors： Maddirevula S,Awartani K,Coskun S,AlNaim LF,Ibrahim N,Abdulwahab F,Hashem M,Alhassan S,Alkuraya FS

更新日期：2020-05-01 00:00:00

abstract：:Polymorphism of the human c-Ha-ras-1 gene has been analysed in DNA from 168 individuals using the enzymes MspI and HpaII. In all, 35 bladder cancer patients, 28 melanoma patients, 22 Wilms' tumour patients, 24 first-degree relatives of Wilms' tumour or melanoma patients and 59 unaffected controls were studied. A total...

journal_title：Human genetics

authors： Hayward NK,Keegan R,Nancarrow DJ,Little MH,Smith PJ,Gardiner RA,Seymour GJ,Kidson C,Lavin MF

更新日期：1988-02-01 00:00:00

abstract：:The recent observations that Peroxisome proliferator activated receptor gamma coactivator 1 alpha (PGC1A) is responsible for the induction of reactive oxygen species (ROS) detoxifying agents and that ROS triggers insulin resistance, support the role that this gene could play in the onset of Type 2 diabetes mellitus (T...

journal_title：Human genetics

authors： Bhat A,Koul A,Rai E,Sharma S,Dhar MK,Bamezai RN

更新日期：2007-06-01 00:00:00

abstract：:Patients with Peutz-Jeghers syndrome (PJS), an autosomal dominant disease characterized by hamartomatous polyposis of the gastrointestinal tract, are thought to be predisposed to malignancies of the digestive tract, genital tract, and other organs. Using microsatellite markers on chromosome 19p, we have closely define...

journal_title：Human genetics

authors： Nakagawa H,Koyama K,Tanaka T,Miyoshi Y,Ando H,Baba S,Watatani M,Yasutomi M,Monden M,Nakamura Y

更新日期：1998-02-01 00:00:00

abstract：:A polymorphic BamHI site was located in the coding region of the human T cell receptor delta gene TCRDV2. Two alleles defined by the absence or the presence of the BamHI site were detected by the polymerase chain reaction. ...

journal_title：Human genetics

authors： Zhang XM,Lefranc MP

更新日期：1993-08-01 00:00:00