Glucose-6-phosphate dehydrogenase deficiency in Papua New Guinea. The description of 13 new variants.

abstract：:Holoprosencephaly (HPE) is a common forebrain malformation associated with mental retardation and craniofacial anomalies. Multiple lines of evidence indicate that loss of ventral neurons is associated with HPE. The condition is etiologically heterogeneous, and abnormalities in any of several genes can cause human HPE....

journal_title：Human genetics

authors： Schell-Apacik C,Rivero M,Knepper JL,Roessler E,Muenke M,Ming JE

更新日期：2003-07-01 00:00:00

abstract：:Pairs of cultured amniotic cells and maternal fibroblasts ("feto-maternal pairs") were studied for hexosaminidase A (HXA) and arylsulfatase A (ASA) activity. These lysosomal enzyme activities are genetically deficient in Tay-Sachs disease and metachromatic leukodystrophy, respectively. After HXA was standardized by re...

journal_title：Human genetics

authors： Harzer K,Hayashi K

更新日期：1981-01-01 00:00:00

abstract：:The ERM proteins, ezrin, radixin, and moesin, act as linkers between the plasma membrane and actin cytoskeleton. They are involved in a variety of cellular functions, such as cell adhesion, migration, and the organization of cell surface structures, and are highly homologous, both in protein sequence and in functional...

journal_title：Human genetics

authors： Majander-Nordenswan P,Sainio M,Turunen O,Jääskeläinen J,Carpén O,Kere J,Vaheri A

更新日期：1998-12-01 00:00:00

abstract：:Various genetic loci harboring oncogenes, tumor suppressor genes, and genes for calcium receptors have been implicated in the development of parathyroid tumors. We have carried out loss of heterozygosity (LOH) studies in chromosomes 1p, 1q, 3q, 6q, 11q, 13q, 15q, and X in a total of 89 benign parathyroid tumors. Of th...

journal_title：Human genetics

authors： Farnebo F,Teh BT,Dotzenrath C,Wassif WS,Svensson A,White I,Betz R,Goretzki P,Sandelin K,Farnebo LO,Larsson C

更新日期：1997-03-01 00:00:00

abstract：:We have examined unfertilised oocytes and their first polar bodies (PBs) to determine the way in which the frequency of whole chromosome imbalance compares with that involving single chromatids and whether the precocious separation of chromatids prior to anaphase I affects all pairs of chromosomes. We have applied the...

journal_title：Human genetics

authors： Mahmood R,Brierley CH,Faed MJ,Mills JA,Delhanty JD

更新日期：2000-06-01 00:00:00

abstract：:Smallpox is a deadly and debilitating disease that killed hundreds of millions of people in the past century alone. The use of Vaccinia virus-based smallpox vaccines led to the eradication of smallpox. These vaccines are remarkably effective, inducing the characteristic pustule or "take" at the vaccine site in >97 % o...

journal_title：Human genetics

authors： Kennedy RB,Ovsyannikova IG,Pankratz VS,Haralambieva IH,Vierkant RA,Jacobson RM,Poland GA

更新日期：2012-09-01 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：:A patient with Beckwith-Wiedemann syndrome (BWS) presented with Wilms' tumour. Examination of the nephrectomy specimen showed, in addition to the tumour, the presence of nephrogenic rests. Nephrogenic rests are thought to be precursor lesions from which a Wilms' tumour may develop. A molecular analysis examining the l...

journal_title：Human genetics

authors： Hoban PR,Heighway J,White GR,Baker B,Gardner J,Birch JM,Morris-Jones P,Kelsey AM

更新日期：1995-06-01 00:00:00

abstract：:Eleven families segregating for the X-linked recessive immune deficiency disorder, Wiskott-Aldrich syndrome (WAS), were studied by linkage analysis with an alpha satellite DNA probe, pBamX-7, which detects polymorphisms at the X chromosome centromere, locus DXZ1, as well as three other polymorphic markers defining loc...

journal_title：Human genetics

authors： Greer WL,Mahtani MM,Kwong PC,Rubin LA,Peacocke M,Willard HF,Siminovitch KA

更新日期：1989-10-01 00:00:00

abstract：:High hyperopia is a common and severe form of refractive error. Genetic factors play important roles in the development of high hyperopia but the exact gene responsible for this condition is mostly unknown. We identified a large Chinese family with autosomal dominant high hyperopia. A genome-wide linkage scan mapped t...

journal_title：Human genetics

authors： Xiao X,Sun W,Ouyang J,Li S,Jia X,Tan Z,Hejtmancik JF,Zhang Q

更新日期：2019-10-01 00:00:00

abstract：:Congenital tufting enteropathy (CTE) is a rare and severe enteropathy recently ascribed to mutations in the epcam gene. Here we establish SPINT2, previously ascribed to congenital sodium diarrhea, as a second gene associated with CTE and report molecular and immunohistochemistry data in 57 CTE patients. Inclusion crit...

journal_title：Human genetics

authors： Salomon J,Goulet O,Canioni D,Brousse N,Lemale J,Tounian P,Coulomb A,Marinier E,Hugot JP,Ruemmele F,Dufier JL,Roche O,Bodemer C,Colomb V,Talbotec C,Lacaille F,Campeotto F,Cerf-Bensussan N,Janecke AR,Mueller T,Kolet

更新日期：2014-03-01 00:00:00

abstract：:Sample of 981 and 998 South African Negroes belonging to seven different ethnic groups were screened for G-6-PD and 6-PGD phenotypes, respectively. The results are discussed in terms of the interethnic variability and the possible adaptive values of these genetic polymorphisms. Particular attention is paid to the geog...

journal_title：Human genetics

authors： Hitzeroth HW,Bender K

更新日期：1980-01-01 00:00:00

abstract：:A method is introduced for simultaneously using multiple loci to estimate admixture and test goodness of fit of the model of admixture. Deviation of observed frequencies from expectation caused by sources of error such as sampling and/or drift is allowed for all loci in all populations. This allows investigation of th...

journal_title：Human genetics

authors： Wijsman EM

更新日期：1984-01-01 00:00:00

abstract：:With the recent advances in genomic research, it has become apparent that a substantial part of human malformation and mental retardation is caused by imbalances in genomic content. Thus, there is an increasing need for versatile methods allowing a detailed mapping and cloning of the actual rearrangements. We have com...

journal_title：Human genetics

authors： Dunø M,Hove H,Kirchhoff M,Devriendt K,Schwartz M

更新日期：2004-11-01 00:00:00

abstract：:We have studied the matrilineal genetic composition of the Madeira and Açores north Atlantic archipelagos, which were settled by the Portuguese in the 15th century. Both archipelagos, and particularly Madeira, were involved in a complex commercial network established by the Portuguese, which included the trading of sl...

journal_title：Human genetics

authors： Brehm A,Pereira L,Kivisild T,Amorim A

更新日期：2003-12-01 00:00:00

abstract：:Ataxia-telangiectasia (A-T) is an autosomal recessive disorder caused by mutations in the ATM gene. The ATM gene spans more than 150 kb at chromosomal region 11q23.1 and encodes a product of 3,056 amino acids. The ATM protein is a serine/threonine protein kinase and is involved in oxidative stress, cell cycle control,...

journal_title：Human genetics

authors： Babaei M,Mitui M,Olson ER,Gatti RA

更新日期：2005-07-01 00:00:00

abstract：:Von Hippel-Lindau (VHL) disease is a hereditary tumor syndrome characterized by predisposition for bilateral and multi-centric hemangioblastoma in the retina and central nervous system, pheochromocytoma, renal cell carcinoma, and cysts in the kidney, pancreas, and epididymis. We describe five families for which direct...

journal_title：Human genetics

authors： Hes F,Zewald R,Peeters T,Sijmons R,Links T,Verheij J,Matthijs G,Leguis E,Mortier G,van der Torren K,Rosman M,Lips C,Pearson P,van der Luijt R

更新日期：2000-04-01 00:00:00

abstract：:Fluorescence in situ hybridization analysis was performed to characterize a complex pericentric inversion involving chromosome 5 in a mother and son. The mother had hypertelorism, epicanthal folds, and mild mental deficiency while the son had additional anomalies that have been observed in patients with cri-du-chat sy...

journal_title：Human genetics

authors： Goodart SA,Butler MG,Overhauser J

更新日期：1996-06-01 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：:Congenital heart disease (CHD) affects over 40% of Down syndrome (DS) patients. The region proposed to contain the gene(s) for DS CHD has been restricted to 21q22.2-22.3, from D21S55 to MX1. The identification and functional characterization of the genes mapping to this region is a necessary step to understand the pat...

journal_title：Human genetics

authors： Egeo A,Mazzocco M,Sotgia F,Arrigo P,Oliva R,Bergonòn S,Nizetic D,Rasore-Quartino A,Scartezzini P

更新日期：1998-03-01 00:00:00

abstract：:The authors report the results of a genetic analysis performed in 34 neurofibromatosis type 1 (NF1) Italian families using five loci tightly linked to NF1: D17S33, D17S82, D17S83, D17S37, and D17S36. A two-point linkage analysis was performed with the LINKAGE and the CRI-MAP programs. The map of the region was constru...

journal_title：Human genetics

authors： Clementi M,Murgia A,Anglani F,Tenconi R,Turolla L,Picci L,Zacchello F

更新日期：1991-05-01 00:00:00

abstract：:Thiamine-responsive megaloblastic anemia (TRMA, also known as Rogers syndrome, OMIM 249270) is a rare autosomal recessive disorder characterized by a triad of megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Patients respond, to varying degrees, to treatment with megadoses of thiamine. We have rece...

journal_title：Human genetics

authors： Raz T,Barrett T,Szargel R,Mandel H,Neufeld EJ,Nosaka K,Viana MB,Cohen N

更新日期：1998-10-01 00:00:00

abstract：:Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents during the first year of life. The main features of the disease are normochromic and macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. The patients also present with growth retarda...

journal_title：Human genetics

authors： Landowski M,O'Donohue MF,Buros C,Ghazvinian R,Montel-Lehry N,Vlachos A,Sieff CA,Newburger PE,Niewiadomska E,Matysiak M,Glader B,Atsidaftos E,Lipton JM,Beggs AH,Gleizes PE,Gazda HT

更新日期：2013-11-01 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：:Angelman syndrome is a neuro-developmental disorder caused by genetic abnormalities affecting the maternal gene expression in the chromosome region 15q11-q13. In a study group of 45 Finnish Angelman patients, a recurrence of a del(15)(q11q13) was detected in one family. The mother's chromosomes 15 were structurally no...

journal_title：Human genetics

authors： Kokkonen H,Leisti J

更新日期：2000-07-01 00:00:00

abstract：:Trisomy 21 (Down syndrome, DS) is the most common human genetic anomaly associated with heart defects. Based on evolutionary conservation, DS-associated heart defects have been modeled in mice. By generating and analyzing mouse mutants carrying different genomic rearrangements in human chromosome 21 (Hsa21) syntenic r...

journal_title：Human genetics

authors： Liu C,Morishima M,Jiang X,Yu T,Meng K,Ray D,Pao A,Ye P,Parmacek MS,Yu YE

更新日期：2014-06-01 00:00:00

abstract：:Different populations suffer from different rates of obesity and type-2 diabetes (T2D). Little is known about the genetic or adaptive component, if any, that underlies these differences. Given the cultural, geographic, and dietary variation that accumulated among humans over the last 60,000 years, we examined whether ...

journal_title：Human genetics

authors： Klimentidis YC,Abrams M,Wang J,Fernandez JR,Allison DB

更新日期：2011-04-01 00:00:00

abstract：:GM1 Gangliosidosis is an autosomal recessive genetic disorder due to deficiency of the lysosome enzyme beta-galactosidase, with consequent tissue accumulation of glycolipids, oligosaccharides, and especially GM1 ganglioside. In the present paper we report the clinical and laboratory findings obtained for eight familie...

journal_title：Human genetics

authors： Giugliani R,Dutra JC,Pereira ML,Rotta N,Drachler Mde L,Ohlweiller L,Pina Neto JM,Pinheiro CE,Breda DJ

更新日期：1985-01-01 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：:Multiple sclerosis (MS) is a demyelinating disorder of the central nervous system with putative autoimmune aetiology and complex genetic background. Here, we report the results of a genome screen for linkage disequilibrium (LD) by using 6000 microsatellite markers in 198 HLA-DRB1*15-positive MS patients and 198 unrela...

journal_title：Human genetics

authors： Goedde R,Sawcer S,Boehringer S,Miterski B,Sindern E,Haupts M,Schimrigk S,Compston A,Epplen JT

更新日期：2002-09-01 00:00:00