Telomeric association of chromosomes in B-cell lymphoid leukemia.

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：:Complementation studies of steroid sulphatase were carried out in the heterokaryon population of fibroblasts derived from patients with X-linked ichthyosis and multiple sulphatase deficiency. The activity of steroid sulphatase of the fused cell population was constantly higher (approximately 2-5 fold) than that of the...

journal_title：Human genetics

authors： Ballabio A,Parenti G,Napolitano E,Di Natale P,Andria G

更新日期：1985-01-01 00:00:00

abstract：:Primary open-angle glaucoma (POAG) is a leading cause of blindness in the world. A number of mutations in the myocilin gene have been identified that predispose to glaucoma. The most frequent of these is the Glutamine368STOP (Q368STOP) mutation. It has been postulated that individuals with the Q368STOP mutation are de...

journal_title：Human genetics

authors： Baird PN,Craig JE,Richardson AJ,Ring MA,Sim P,Stanwix S,Foote SJ,Mackey DA

更新日期：2003-02-01 00:00:00

abstract：:We have described a novel human globin gene mutation that produced in a Japanese family the beta-thalassemia phenotype through a post-translational mechanism. Substitution of proline for leucine at position 110 in the G-helix of the beta-globin chain greatly reduced the molecular stability of the beta-globin subunit, ...

journal_title：Human genetics

authors： Naritomi Y,Naito Y,Nakashima H,Yokota E,Imamura T

更新日期：1988-09-01 00:00:00

abstract：:Hybrids were performed between cell lines derived from four patients with Fanconi's anemia in which different biochemical lesions have been postulated. Complementation studies in these hybrids based on the rate of mitomycin C-induced chromosomal damage supported the concept of allelic mutations. It was therefore concl...

journal_title：Human genetics

authors： Zakrzewski S,Koch M,Sperling K

更新日期：1983-01-01 00:00:00

abstract：:X chromosome inactivation results in dosage equivalency for X-linked gene expression between males and females. However, some X-linked genes show variable X inactivation, being expressed from the inactive X in some females but subject to inactivation in other women. The human tissue inhibitor of metalloproteinases-1 (...

journal_title：Human genetics

authors： Anderson CL,Brown CJ

更新日期：2002-03-01 00:00:00

abstract：:Quantitative red cell adenylate kinase (AK-1) assay has been used in 8 patients with partial duplication or deletion of chromosome 9 in an attempt to find the precise intrachromosomal location of the structural gene locus. All regions of chromosome 9 are represented in abnormal dosage in at least one patient. A 43% in...

journal_title：Human genetics

authors： Ferguson-Smith MA,Aitken DA,Turleau C,de Grouchy J

更新日期：1976-09-10 00:00:00

abstract：:After an association between genetic variants and a phenotype has been established, further study goals comprise the classification of patients according to disease risk or the estimation of disease probability. To accomplish this, different statistical methods are required, and specifically machine-learning approache...

journal_title：Human genetics

authors： Kruppa J,Ziegler A,König IR

更新日期：2012-10-01 00:00:00

abstract：:We ascertained three consanguineous Pakistani families (PKDF291, PKDF335 and PKDF793) segregating nonsyndromic recessive hearing loss. The hearing loss segregating in PKDF335 and PKDF793 is moderate to severe, whereas it is profound in PKDF291. The maximum two-point LOD scores are 3.01 (D19S1034), 3.85 (D19S894) and 3...

journal_title：Human genetics

authors： Ain Q,Nazli S,Riazuddin S,Jaleel AU,Riazuddin SA,Zafar AU,Khan SN,Husnain T,Griffith AJ,Ahmed ZM,Friedman TB,Riazuddin S

更新日期：2007-12-01 00:00:00

abstract：:Beta-2 microglobulin (B2M) is a component of the major histocompatibility complex (MHC) class I molecule and has been studied as a biomarker of kidney function, cardiovascular diseases and mortality. Little is known about the genes influencing its levels directly or through glomerular filtration rate (GFR). We conduct...

journal_title：Human genetics

authors： Tin A,Astor BC,Boerwinkle E,Hoogeveen RC,Coresh J,Kao WH

更新日期：2013-06-01 00:00:00

abstract：:The WT1 gene is normally expressed during gonadal development and specific mutations in heterozygous form cause Drash syndrome, characterized by male pseudohermaphroditism and gonadal dysgenesis, renal failure and a predisposition for Wilms' tumour. These observations prompted us to test whether WT1 mutations are invo...

journal_title：Human genetics

authors： Nordenskjöld A,Fricke G,Anvret M

更新日期：1995-07-01 00:00:00

abstract：:A cDNA probe of the human COL5A1 gene detects a frequent biallelic PstI polymorphism. Allele A has a frequency of 54% whereas that of allele B is 46%. This restriction fragment length polymorphism provides a useful marker for linkage analysis in 9q34.3. ...

journal_title：Human genetics

authors： Cappa F,Caridi G,Gimelli G,Ghiggeri GM

更新日期：1995-05-01 00:00:00

abstract：:Cytogenetic studies were carried out on 150 oocytes obtained in a human in vitro fertilization (IVF) program. Although all cells lacked signs of fertilization at light microscopy, 46 (30.7%) appeared to show cytological evidence of fertilization. At least one-third of these cells (with development arrested before firs...

journal_title：Human genetics

authors： Pieters MH,Geraedts JP,Dumoulin JC,Evers JL,Bras M,Kornips FH,Menheere PP

更新日期：1989-03-01 00:00:00

abstract：:A case of complete trisomy 5p due to a de novo translocation t(2;5)(q36;p11) with an isochromosome 5p is described. Complete trisomy 5p has been reported only once (Brimblecombe et al., 1977). The confusing literature relating to partial trisomy 5p is reviewed. Comparison of our case with the patients reported by Brim...

journal_title：Human genetics

authors： Leschot NJ,Lim KS

更新日期：1979-02-15 00:00:00

abstract：:A G- to A-DNA sequence change in exon 26 of the human apolipoprotein B (apo B) gene leads to a glutamine substitution for arginine at codon 3611 of the mature apolipo-protein B100 and causes a loss of an MspI site. In 106 Finnish individuals, a complete correspondence exists between this MspI polymorphic site and the ...

journal_title：Human genetics

authors： Xu CF,Nanjee N,Tikkanen MJ,Huttunen JK,Pietinen P,Bütler R,Angelico F,Del Ben M,Mazzarella B,Antonio R

更新日期：1989-07-01 00:00:00

abstract：:Cytogenetic analysis of 26 non-Burkitt lymphomas having abnormal clones, revealed non-random involvement of certain chromosomes in numerical and structural changes. In some cases, chromosome structural abnormalities could be correlated with histopathology of the tumours. A combined analysis of cases in the present ser...

journal_title：Human genetics

authors： Reeves BR,Pickup VL

更新日期：1980-01-01 00:00:00

abstract：:To elucidate further the genetic mechanisms for follicular thyroid tumor development and progression, we allelotyped follicular thyroid tumors and other thyroid lesions from 92 patients. In general, a low frequency of loss of heterozygosity (LOH) was found, the highest being for chromosomes 3q, 10q, 11p, 11q, 13q, and...

journal_title：Human genetics

authors： Zedenius J,Wallin G,Svensson A,Grimelius L,Höög A,Lundell G,Bäckdahl M,Larsson C

更新日期：1995-07-01 00:00:00

abstract：:Molecular characterization of a ring chromosome 14 was carried out in a patient with the 46,XX,r(14) karyotype. The breakpoints shown by chromosome banding were within bands p11 and q32. Using molecular probes for the immunoglobulin heavy chain (IGH), D14S1 and PI loci located at 14q32, we showed that the IGH and D14S...

journal_title：Human genetics

authors： Keyeux G,Gilgenkrantz S,Lefranc G,Lefranc MP

更新日期：1989-06-01 00:00:00

abstract：:A family with five induced and seven spontaneous abortions and no live births is described. Four of the seven spontaneous abortuses were available for cytogenetic examination and three were successfully karyotyped. Their karyotypes were 46,XX; 46,XX/46,XX,t(2;2)(2p2p;2q2q); and 46,XY. The karyotypes of the parents wer...

journal_title：Human genetics

authors： Ohama K,Kusumi I,Takahara H,Kajii T

更新日期：1978-01-19 00:00:00

abstract：:To dissect the genetic architecture of sexual dimorphism in obesity-related traits, we evaluated the sex-genotype interaction, sex-specific heritability and genome-wide linkages for seven measurements related to obesity. A total of 1,365 non-diabetic Chinese subjects from the family study of the Stanford Asia-Pacific ...

journal_title：Human genetics

authors： Chiu YF,Chuang LM,Kao HY,Shih KC,Lin MW,Lee WJ,Quertermous T,Curb JD,Chen I,Rodriguez BL,Hsiung CA

更新日期：2010-11-01 00:00:00

abstract：:A unique two allele polymorphism for both HpaII and SmaI is described in the second intron of the human atrial natriuretic peptide gene. It should be a useful marker of this candidate gene in familial susceptibility to hypertension. ...

journal_title：Human genetics

authors： Ramasawmy R,Kotea N,Lu C,Sayada C,Baligadoo S,Krishnamoorthy R

更新日期：1993-06-01 00:00:00

abstract：:Fanconi anemia (FA) cells show an increased sensitivity to 8-methoxypsoralen (8-MOP) plus UVa treatment; after an initial reduction of their semiconservative DNA synthesis rate, they do not recover like normal cells. We microinjected extracts from normal cells into FA fibroblasts from complementation group A and deter...

journal_title：Human genetics

authors： Gök MM,Wunder E

更新日期：1987-04-01 00:00:00

abstract：:Familial juvenile hyperuricaemic (gouty) nephropathy (FJHN), is an autosomal dominant disease associated with a reduced fractional excretion of urate, and progressive renal failure. FJHN is genetically heterogeneous and due to mutations of three genes: uromodulin (UMOD), renin (REN) and hepatocyte nuclear factor-1beta...

journal_title：Human genetics

authors： Piret SE,Danoy P,Dahan K,Reed AA,Pryce K,Wong W,Torres RJ,Puig JG,Müller T,Kotanko P,Lhotta K,Devuyst O,Brown MA,Thakker RV

更新日期：2011-01-01 00:00:00

abstract：:Neural tube defect disorders are developmental diseases that originate from an incomplete closure of the neural tube during embryogenesis. Despite high prevalence-1 out of 3000 live births-their etiology is not yet established and both environmental and genetic factors have been proposed, with a heritability rate of a...

journal_title：Human genetics

authors： Beaumont M,Akloul L,Carré W,Quélin C,Journel H,Pasquier L,Fradin M,Odent S,Hamdi-Rozé H,Watrin E,Dupé V,Dubourg C,David V

更新日期：2019-04-01 00:00:00

abstract：:A Drosophila-related expressed sequence tag (DRES) with sequence similarity to the peanut gene has previously been localized to human chromosome 22q11. We have isolated the cDNA corresponding to this DRES and show that it is a novel member of the family of septin genes, which encode proteins with GTPase activity thoug...

journal_title：Human genetics

authors： McKie JM,Sutherland HF,Harvey E,Kim UJ,Scambler PJ

更新日期：1997-11-01 00:00:00

abstract：:The gene causing adenomatous polyposis coli (APC) has recently been cloned. Three intragenic polymorphisms were reported to be detectable by single-strand conformation polymorphism analysis. Here, we describe an assay using polymerase-chain-reaction-based amplification and subsequent enzymatic digestion of genomic seq...

journal_title：Human genetics

authors： Kraus C,Ballhausen WG

更新日期：1992-03-01 00:00:00

abstract：:We identified two additional mutations in the ferrochelatase gene in two Swiss patients with erythropoietic protoporphyria (EPP). Ferrochelatase cDNA from patients was amplified by the polymerase chain reaction (PCR) and subjected to mutation analysis by sequencing PCR products either directly or after subcloning. The...

journal_title：Human genetics

authors： Schneider-Yin X,Schäfer BW,Möhr P,Burg G,Minder EI

更新日期：1994-06-01 00:00:00

abstract：:The human hap retinoic acid receptor RAR beta has been localized by in situ hybridization to the p24 band of chromosome 3. ...

journal_title：Human genetics

authors： Mattei MG,de Thé H,Mattei JF,Marchio A,Tiollais P,Dejean A

更新日期：1988-10-01 00:00:00

abstract：:Hereditary hemochromatosis (HFE) is an inherited disorder whose gene lies in the proximity of the histocompatibility antigen (HLA) class I region, on 6p21.3. Despite efforts in refining the HFE region, a number of informative DNA markers, linked to the disease locus and amenable to use in an assay based on the polymer...

journal_title：Human genetics

authors： Totaro A,Grifa A,Roetto A,Lunardi C,D'Agruma L,Sbaiz L,Zelante L,De Sandre G,Camaschella C,Gasparini P

更新日期：1995-04-01 00:00:00

abstract：:The difference in DNA content of peripheral lymphocytes from normal males, normal females, and an individual with a 48 (xxxy) chromosome constitution was determined by rapid flow microfluorometric techniques. A similar comparison was performed using tissue culture fibroblasts derived from an individual with a 49 (xxxx...

journal_title：Human genetics

authors： Cram LS,Lehman JM

更新日期：1977-06-30 00:00:00