Inheritance of cleft palate in Italy. Evidence for a major autosomal recessive locus.

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：:We compared the fragile X (fraX) expression in T and B lymphocytes from four hemizygous males with fraX. Blood cultures were stimulated with a T cell mitogen (phytohemagglutinin:PHA) and with a B cell mitogen (pokeweed mitogen:PWM). A significant decrease in fraX expression was observed in cultures stimulated with PWM...

journal_title：Human genetics

authors： Marchese CA,Lin MS,Wilson MG

更新日期：1984-01-01 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：:Distal hereditary motor neuropathies predominantly affect the motor neurons of the peripheral nervous system leading to chronic disability. Using whole genome sequencing (WGS) we have identified a novel structural variation (SV) within the distal hereditary motor neuropathy locus on chromosome 7q34-q36.2 (DHMN1). The ...

journal_title：Human genetics

authors： Drew AP,Cutrupi AN,Brewer MH,Nicholson GA,Kennerson ML

更新日期：2016-11-01 00:00:00

abstract：:A segregation analysis on 135 Duchenne families from Venetia (Italy) suggests that the proportion of sporadic cases might be less than expected. Support for this view is also given by an analysis of a pooled sample including 284 additional sibships from comparable studies published previously. Several hypotheses were ...

journal_title：Human genetics

authors： Danieli GA,Barbujani G

更新日期：1984-01-01 00:00:00

abstract：:Disomy and diploidy frequencies for autosomes 1-22 and the gonosomes were assessed in 299,442 sperm nuclei from four normal fertile men by chromosome painting. This novel approach allowed us to perform a specific and sensitive detection of each chromosome. A minimum of 5000 sperm nuclei per subject were evaluated for ...

journal_title：Human genetics

authors： Rives N,Mazurier S,Bellet D,Joly G,Macé B

更新日期：1998-06-01 00:00:00

abstract：:The recent discovery that the extra chromosome in about 30% of cases of 47, trisomy 21 is of paternal origin has revived interest in the possibility of paternal age as a risk factor for a Down syndrome birth, independent of maternal age. Parental age distribution for 611 Down's syndrome 47, +21 cases was studied. The ...

journal_title：Human genetics

authors： Roth MP,Feingold J,Baumgarten A,Bigel P,Stoll C

更新日期：1983-01-01 00:00:00

abstract：:Hereditary paraganglioma type 1 (PGL1) is characterized by slow-growing and vascularized tumors that often develop in the carotid body (CB) and is caused by mutations in the gene for succinate dehydrogenase D ( SDHD) of mitochondrial complex II. The mechanisms of tumorigenesis and the factors affecting penetrance and ...

journal_title：Human genetics

authors： Astrom K,Cohen JE,Willett-Brozick JE,Aston CE,Baysal BE

更新日期：2003-08-01 00:00:00

abstract：:By screening 27 hypercalcaemic and 21 normocalcaemic subjects in a large Dutch pedigree with familial benign hypercalcaemia (FBH; McK. No. 14598) (McKusick 1983) for more than 35 genetic markers, it was found that linkage of FBH can be excluded at about 25 centimorgans (cM) from GM, 20 cM from ABO, 15 cM from MNS and ...

journal_title：Human genetics

authors： Menko FH,Bijvoet OL,Meera Khan P,Nijenhuis LE,von Loghem E,Schreuder I,Bernini LF,Pronk JC,Madan K,Went LN

更新日期：1984-01-01 00:00:00

abstract：:Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial arch anomalies, hearing loss and renal dysmorphology. Although haploinsufficiency of EYA1 and SIX1 are known to cause BOR, copy number variation analysis has only been performed on a limited number of BOR patients. In this s...

journal_title：Human genetics

authors： Brophy PD,Alasti F,Darbro BW,Clarke J,Nishimura C,Cobb B,Smith RJ,Manak JR

更新日期：2013-12-01 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：:New germline mutations in the human retinoblastoma gene are known to arise preferentially on paternally derived chromosomes, but the magnitude of that bias has not been measured. We evaluated 49 cases with a new germline mutation and found that in 40 cases (82%) the mutation arose on the paternally derived allele. We ...

journal_title：Human genetics

authors： Dryja TP,Morrow JF,Rapaport JM

更新日期：1997-09-01 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：: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：:Osteopetrosis is a heterogeneous group of inherited disorders that includes a malignant autosomal recessive form, an intermediate autosomal recessive form and autosomal dominant forms of the disease. Most malignant osteopetroses have been ascribed to mutations in the OC116 gene encoding the human a3 subunit of vacuola...

journal_title：Human genetics

authors： Campos-Xavier AB,Saraiva JM,Ribeiro LM,Munnich A,Cormier-Daire V

更新日期：2003-02-01 00:00:00

abstract：:DNA sequence analysis of the 13 exons and intron/exon boundaries of the phenylalanine hydroxylase (PAH) gene has detected two base transitions, resulting in mis-sense mutations, in the genomic DNA of a Turkish patient (E1) with phenylketonuria (PKU). The Leu48----Ser amino acid substitution was associated with the mut...

journal_title：Human genetics

authors： Konecki DS,Schlotter M,Trefz FK,Lichter-Konecki U

更新日期：1991-08-01 00:00:00

abstract：:Two new cases of ring chromosome 15 are reported. A review of the nine cases described in the literature shows that ring chromosomes 15 are associated with a rather uniform phenotype characterized by slight to moderate mental retardation, marked pre- and postnatal growth failure, triangular face, and short hands and f...

journal_title：Human genetics

authors： Fryns JP,Timmermans J,Hondt FD,François B,Emmery L,van den Berghe H

更新日期：1979-09-02 00:00:00

abstract：:A C4 variant found in about 5% of the population is described. The fast-moving part of this variant is governed by an allele (Fx) codominant to F. The Fx allele is in very strong linkage disequilibrium with HLA-B17 as the linkage disequilibrium parameter accounted for nearly 100% of the haplotype frequency of B17,Fx. ...

journal_title：Human genetics

authors： Petersen GB,Sørensen IJ,Buskjaer L,Lamm LU

更新日期：1979-01-01 00:00:00

abstract：:Proteins were extracted from liver, brain, and skin of 6-day-old mice with trisomy (Ts) 19 and fractionated into solubilized cell proteins and structure-bound cell proteins. The proteins were separated by two-dimensional electrophoresis, and protein patterns were compared in the combinations Ts/normal and normal/norma...

journal_title：Human genetics

authors： Zeindl-Eberhart E,Grohé G,Klose J

更新日期：1987-12-01 00:00:00

abstract：:Densitometric C-band measurements in chromosomes 1, 9, and 16 of 394 Indians and 40 Caucasoids living in Brazil are reported. No significant intratribal variability in the average length of these regions was observed, and the intertribal variation showed no consistent patterns. But the Caucasoids always presented lowe...

journal_title：Human genetics

authors： Erdtmann B,Salzano FM,Mattevi MS,Flores RZ

更新日期：1981-01-01 00:00:00

abstract：:Cystic fibrosis (CF) is one of the most common autosomal recessive disorders in white populations. Significant regional differences in CF mutations among affected individuals have been reported. We have studied the geographic distribution of the relative frequencies of the three most common Dutch CF mutations, deltaF5...

journal_title：Human genetics

authors： Collée JM,de Vries HG,Scheffer H,Halley DJ,ten Kate LP

更新日期：1998-05-01 00:00:00

abstract：:Lesch-Nyhan disease is a neurogenetic disorder caused by mutation of the HPRT1 gene on the X chromosome. There is significant variation in the clinical phenotype, with more than 300 different known mutations. There are few studies that have addressed whether similar mutations result in similar phenotypes across differ...

journal_title：Human genetics

authors： Sampat R,Fu R,Larovere LE,Torres RJ,Ceballos-Picot I,Fischbach M,de Kremer R,Schretlen DJ,Puig JG,Jinnah HA

更新日期：2011-01-01 00:00:00

abstract：:Autosomal dominant polycystic kidney disease is characterized by clinical and genetic heterogeneity. Two loci implicated in the disease have previously been mapped (PKD1 on chromosome 16 and PKD2 on chromosome 4). By two point and multipoint linkage analysis, negative lod scores have been found for both chromosome 16 ...

journal_title：Human genetics

authors： de Almeida S,de Almeida E,Peters D,Pinto JR,Távora I,Lavinha J,Breuning M,Prata MM

更新日期：1995-07-01 00:00:00

abstract：:A method is described for large scale routine phenotyping of haptoglobin (Hp) which allows complete subtyping without prior purification of the Hp molecule. The procedure includes polyacrylamide gel isoelectric focusing of reduced, neuraminidase treated serum or plasma samples, and nitrocellulose blots developed with ...

journal_title：Human genetics

authors： Teige B,Olaisen B,Pedersen L

更新日期：1985-01-01 00:00:00

abstract：:In a patient with Shwachman syndrome, a high incidence of chromosome breakage was found. Chromosome studies done on three occasions on the patient's PHA-stimulated peripheral blood lymphocytes showed elevated frequencies of spontaneous chromosome aberrations compared with those in normal individuals. The patient's lym...

journal_title：Human genetics

authors： Tada H,Ri T,Yoshida H,Ishimoto K,Kaneko M,Yamashiro Y,Shinohara T

更新日期：1987-11-01 00:00:00

abstract：:Enzymes encoded by two gene families, alcohol dehydrogenase ( ADH) and aldehyde dehydrogenase ( ALDH), mediate alcohol metabolism in humans. Allelic variants have been identified that alter metabolic rates and influence risk for alcoholism. Specifically, ADH1B*47His (previously ADH2-2) and ALDH2-2 have been shown to c...

journal_title：Human genetics

authors： Mulligan CJ,Robin RW,Osier MV,Sambuughin N,Goldfarb LG,Kittles RA,Hesselbrock D,Goldman D,Long JC

更新日期：2003-09-01 00:00:00

abstract：:Albumin is a developmentally regulated serum protein synthesized in the liver mainly during adulthood. Family studies using variant forms of albumin established autosomal linkage between albumin and group-specific component protein (GS). Since GC has been assigned to human chromosome 4, albumin can be indirectly assig...

journal_title：Human genetics

authors： Kao FT,Hawkins JW,Law ML,Dugaiczyk A

更新日期：1982-01-01 00:00:00

abstract：:Chromosome investigation of 35 individuals with a 5p- karyotype and their families revealed the presence of 27 apparently terminal deletions, four interstitial deletions, and four translocations, including two familial cases. Four of the probands with simple deletions and one of the mother were mosaics. Unusual chromo...

journal_title：Human genetics

authors： Niebuhr E

更新日期：1978-06-09 00:00:00

abstract：:Meiotic segregation of chromosomes 14 and 21 in sperm from a 14;21 Robertsonian translocation carrier was analyzed with dual-color FISH using two locus-specific DNA probes (Tel 14q and LSI 21). The frequency of normal or chromosomally balanced sperm, resulting from alternate segregation, was 88.42%. The frequency of u...

journal_title：Human genetics

authors： Honda H,Miharu N,Samura O,He H,Ohama K

更新日期：2000-02-01 00:00:00

abstract：:Genome-wide association studies (GWAS) have had a tremendous success in the identification of common DNA sequence variants associated with complex human diseases and traits. However, because of their design, GWAS are largely inappropriate to characterize the role of rare and low-frequency DNA variants on human phenoty...

journal_title：Human genetics

authors： Low-Kam C,Rhainds D,Lo KS,Provost S,Mongrain I,Dubois A,Perreault S,Robinson JF,Hegele RA,Dubé MP,Tardif JC,Lettre G

更新日期：2016-11-01 00:00:00