Genetic analysis of diabetic nephropathy on chromosome 18 in African Americans: linkage analysis and dense SNP mapping.

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：:We report the first use of amnion epithelium for prenatal diagnosis. Prenatal diagnosis of recessive epidermolysis bullosa atrophicans generalisata gravis Herlitz type can at present be achieved with safety by detailed ultrastructural analysis of fetal skin. Because of the close developmental origin of amnion and skin...

journal_title：Human genetics

authors： Hausser I,Anton-Lamprecht I

更新日期：1990-08-01 00:00:00

abstract：:The Prader-Willi syndrome (PWS) and the Angelman syndrome (AS) are distinct genetic disorders that are caused by a deletion of chromosome region 15q11-13 or by uniparental disomy for chromosome 15. Whereas PWS results from the absence of a paternal copy of 15q11-13, the absence of a maternal copy of 15q11-13 leads to ...

journal_title：Human genetics

authors： Dittrich B,Robinson WP,Knoblauch H,Buiting K,Schmidt K,Gillessen-Kaesbach G,Horsthemke B

更新日期：1992-11-01 00:00:00

abstract：:The karyotypes of more than 60 species of Primates are studied and compared, with the use of almost all existing banding techniques. There is a very close analogy of chromosome banding between the Simians studied and man. The quantitative or qualitative variations detected all involve the heterochromatin. It is very l...

journal_title：Human genetics

authors： Dutrillaux B

更新日期：1979-05-10 00:00:00

abstract：:ISLR2 (immunoglobulin superfamily containing leucine-rich repeat 2), encodes a protein involved in axon guidance in brain development (hence the other name leucine-rich repeat domain- and immunoglobulin domain-containing axon extension proteins; LINX). A recently described mouse knockout displays hydrocephalus. Howeve...

journal_title：Human genetics

authors： Alazami AM,Maddirevula S,Seidahmed MZ,Albhlal LA,Alkuraya FS

更新日期：2019-01-01 00:00:00

abstract：:Two siblings with the "happy puppet" syndrome are presented. Their clinical features are quite similar and closely resemble those of previously reported cases. These features include severe mental retardation, epileptic seizures, easily provoked and prolonged paroxysms of laughter, atactic jerky movements, hypotonia, ...

journal_title：Human genetics

authors： Kuroki Y,Matsui I,Yamamoto Y,Ieshima A

更新日期：1980-01-01 00:00:00

abstract：:Phenotypes and gene frequencies are presented for 20 serum and erythrocyte proteins in two Amerindian populations of inner French Guiana. No genetic variability was detected in 12 of these systems. Heterozygosity was calculated for the others and the reasons for its variation are discussed. ...

journal_title：Human genetics

authors： Tchen P,Bois E,Séger J,Grenand P,Feingold N,Feingold J

更新日期：1978-12-29 00:00:00

abstract：:Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases, affecting approximately 1 in 10,000 live births, and with a carrier frequency of approximately 1 in 50. Because of gene deletion or conversion, SMN1 exon 7 is homozygously absent in approximately 94% of patients with clinically typic...

journal_title：Human genetics

authors： Ogino S,Wilson RB

更新日期：2002-12-01 00:00:00

abstract：:The significance of short and long arm anomalies of chromosome 1 was investigated in 55 colorectal tumors comprising 41 carcinomas and 14 adenomas. The tumors were at various stages of transformation from adenoma to carcinoma. Our investigation was prompted by the observation of a p32-pter deletion on the short arm of...

journal_title：Human genetics

authors： Couturier-Turpin MH,Esnous C,Louvel A,Poirier Y,Couturier D

更新日期：1992-02-01 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：:Steroid sulfatase (STS) activities in female fibroblast strains are significantly higher than in male strains, as determined by cleavage of dehydroepiandrosterone sulfate. The difference is probably not due to hormonal control of gene expression, but suggests that for this X-linked locus there is no gene dosage compen...

journal_title：Human genetics

authors： Müller CR,Migl B,Traupe H,Ropers HH

更新日期：1980-01-01 00:00:00

abstract：:Recently, the human orthologue to the cell cycle checkpoint genes rad17 (Schizosaccharomyces pombe) and RAD24 (Saccharomyces cerevisiae), called HRAD17, has been isolated and localized to chromosome 4. Independently, we have isolated the HRAD17 transcript and mapped it to chromosome 5q13 between the CCNB1 and BTF2p44c...

journal_title：Human genetics

authors： von Deimling F,Scharf JM,Liehr T,Rothe M,Kelter AR,Albers P,Dietrich WF,Kunkel LM,Wernert N,Wirth B

更新日期：1999-07-01 00:00:00

abstract：:N-acetylation polymorphism is one of the representative pharmacogenetic traits that underlie interindividual and interethnic differences in response to xenobiotics. To develop a practical genotyping method to predict acetylator phenotype, we studied the conditions for accurate phenotyping, and identified the phenotype...

journal_title：Human genetics

authors： Mashimo M,Suzuki T,Abe M,Deguchi T

更新日期：1992-09-01 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：:Migraine is a common disabling neurovascular brain disorder typically characterised by attacks of severe headache and associated with autonomic and neurological symptoms. Migraine is caused by an interplay of genetic and environmental factors. Genome-wide association studies (GWAS) have identified over a dozen genetic...

journal_title：Human genetics

authors： Eising E,Huisman SMH,Mahfouz A,Vijfhuizen LS,Anttila V,Winsvold BS,Kurth T,Ikram MA,Freilinger T,Kaprio J,Boomsma DI,van Duijn CM,Järvelin MR,Zwart JA,Quaye L,Strachan DP,Kubisch C,Dichgans M,Davey Smith G,Stefansso

更新日期：2016-04-01 00:00:00

abstract：:A cytogenetic follow-up has been made of nine mixoploid children found among 11 148 consecutive newborn children. The frequency of the cell line with normal chromosomes increased in all but two, and the increase was statistically significant, being from 20% to 39% in four cases, and from 1% to 17% in three, while in o...

journal_title：Human genetics

authors： Nielsen J,Krag-Olsen B

更新日期：1980-01-01 00:00:00

abstract：:Premature ovarian failure (POF) is an unexplained amenorrhoea (>6 months) with raised levels of gonadotropins (FSH>40 U/L) occurring before the age of 40 years. Recent studies have elucidated the role of oocyte derived growth factors (BMP15 and GDF9) in maintenance of folliculogenesis, granulosa cell (GC) proliferatio...

journal_title：Human genetics

authors： Dixit H,Rao LK,Padmalatha VV,Kanakavalli M,Deenadayal M,Gupta N,Chakrabarty B,Singh L

更新日期：2006-05-01 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：:A severe form of autosomal recessive retinitis pigmentosa (arRP) was identified in a large Pakistani family ascertained in the Punjab province of Pakistan. All affected individuals in the family had night blindness in early childhood, early complete loss of useful vision, and typical RP fundus changes plus macular deg...

journal_title：Human genetics

authors： Zhang Q,Zulfiqar F,Xiao X,Riazuddin SA,Ayyagari R,Sabar F,Caruso R,Sieving PA,Riazuddin S,Hejtmancik JF

更新日期：2005-12-01 00:00:00

abstract：:To better understand the evolutionary history of the gene region containing the multifunctional adipose tissue hormone leptin, we genotyped 1,957 individuals from 12 world populations for a highly variable tetranucleotide repeat polymorphism located 476 bp 3' of exon 3 of the leptin gene. Common alleles shared among p...

journal_title：Human genetics

authors： Moffett S,Martinson J,Shriver MD,Deka R,McGarvey ST,Barrantes R,Ferrell RE

更新日期：2002-05-01 00:00:00

abstract：:There have been a number of genome-wide linkage studies for adult height in recent years. These studies have yielded few well-replicated loci, and none have been further confirmed by the identification of associated gene variants. The inconsistent results may be attributable to the fact that few studies have combined ...

journal_title：Human genetics

authors： Ellis JA,Scurrah KJ,Duncan AE,Lamantia A,Byrnes GB,Harrap SB

更新日期：2007-04-01 00:00:00

abstract：:The gene frequency of beta-thalassemia among Filipinos is estimated to be 0.02, although little is known about the mutations involved. Recently, an extensive beta-thalassemia deletion was reported in several unrelated individuals of Filipino descent. The deletion begins approximately 4 kb upstream of the beta-globin g...

journal_title：Human genetics

authors： Waye JS,Eng B,Hunt JA,Chui DH

更新日期：1994-11-01 00:00:00

abstract：:Six polymorphic restriction enzyme sites in the beta-globin gene cluster were investigated in Yanomama Indians from the Amazon region of Brazil, using the polymerase chain reaction (PCR) technique. Four haplotypes were identified; the haplotype frequency distribution is similar to those reported for Polynesians, Micro...

journal_title：Human genetics

authors： Guerreiro JF,Figueiredo MS,Santos SE,Zago MA

更新日期：1992-08-01 00:00:00

abstract：:The neurofibromatosis type 1 (NF1) gene located at 17q 11.2 contains 60 exons and spans 350 kb of genomic DNA. Mutation analysis has been hampered by the large size of the gene, the high rate of new mutations, a lack of mutational clustering and the presence of numerous homologous loci. Mutation detection methods base...

journal_title：Human genetics

authors： Osborn MJ,Upadhyaya M

更新日期：1999-10-01 00:00:00

abstract：:Dysregulation of the one-carbon metabolic pathway, which controls nucleotide synthesis and DNA methylation, may promote lymphomagenesis. We evaluated the association between polymorphisms in one-carbon metabolism genes and risk of non-Hodgkin lymphoma (NHL) in a population-based case-control study in Australia. Cases ...

journal_title：Human genetics

authors： Lee KM,Lan Q,Kricker A,Purdue MP,Grulich AE,Vajdic CM,Turner J,Whitby D,Kang D,Chanock S,Rothman N,Armstrong BK

更新日期：2007-12-01 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：:This study was undertaken to evaluate the efficiency of flow cytometry in the detection of the serological H-Y antigen, and to survey expression of H-Y in the normal human population. Peripheral blood leukocytes (granulocytes) were reacted with monoclonal H-Y antibody, gw-16, and with FITC-conjugated goat anti-mouse I...

journal_title：Human genetics

authors： Kent M,Wachtel S,Thaler HT

更新日期：1990-06-01 00:00:00

abstract：:We have analyzed the allele frequency distribution at the highly polymorphic variable number of tandem repeat (VNTR) locus D1S80 (pMCT118) in seven ethnic populations (namely, New Guinea Highlanders of Papua New Guinea, Dogrib Indians of Canada, Pehuenche Indians of Chile, American and Western Samoans, Kacharis of Nor...

journal_title：Human genetics

authors： Deka R,DeCroo S,Jin L,McGarvey ST,Rothhammer F,Ferrell RE,Chakraborty R

更新日期：1994-09-01 00:00:00

abstract：:This study reports the characterization of 60% of low density lipoprotein receptor (LDLR) gene mutations in 150 unrelated Greek familial hypercholesterolaemia (FH) heterozygous children by the analysis of six LDLR gene mutations. The linkage disequilibrium of two polymorphic microsatellites (D19S394 and D19S221) flank...

journal_title：Human genetics

authors： Traeger-Synodinos J,Mavroidis N,Kanavakis E,Drogari E,Humphries SE,Day IN,Kattamis C,Matsaniotis N

更新日期：1998-03-01 00:00:00

abstract：:The gene for superoxide dismutase-1 (SOD-1) is clearly on chromosome 21, although there is disagreement on the precise band location of SOD-1 on the long (q) arm of number 21. We report a patient with normal superoxide dismutase-1 (SOD-1) activity and an interstitial deletion of chromosome 21 resulting in monosomy for...

journal_title：Human genetics

authors： Wulfsberg EA,Carrel RE,Klisak IJ,O'Brien TJ,Sykes JA,Sparkes RS

更新日期：1983-01-01 00:00:00