An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family.

abstract：:An infant exposed to high levels of lead in utero was found to have increased numbers of cells with chromosome breaks in blood samples obtained at 6 weeks and 3 months of life. Later samples did not show significant abnormality. Physical and neurological examinations of the patient up to 18 months of age gave results ...

journal_title：Human genetics

authors： Qazi QH,Madahar C,Yuceoglu AM

更新日期：1980-02-01 00:00:00

abstract：:The last Crypto-Jews (Marranos) are the survivors of Spanish Jews who were persecuted in the late fifteenth century, escaped to Portugal and were forced to convert to save their lives. Isolated groups still exist in mountainous areas such as Belmonte in the Beira-Baixa province of Portugal. We report here the genetic ...

journal_title：Human genetics

authors： Gerber S,Rozet JM,Takezawa SI,dos Santos LC,Lopes L,Gribouval O,Penet C,Perrault I,Ducroq D,Souied E,Jeanpierre M,Romana S,Frézal J,Ferraz F,Yu-Umesono R,Munnich A,Kaplan J

更新日期：2000-09-01 00:00:00

abstract：:Therapeutic interventions that lower LDL-cholesterol effectively reduce the risk of coronary artery disease (CAD). However, statins, the most widely prescribed LDL-cholesterol lowering drugs, increase diabetes risk. We used genome-wide association study (GWAS) data in the public domain to investigate the relationship ...

journal_title：Human genetics

authors： Tragante V,Asselbergs FW,Swerdlow DI,Palmer TM,Moore JH,de Bakker PIW,Keating BJ,Holmes MV

更新日期：2016-05-01 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：:Autosomal dominant Emery-Dreifuss muscular dystrophy is caused by mutations in LMNA gene encoding lamins A and C. The disease is characterized by early onset joint contractures during childhood associated with humero-peroneal muscular wasting and weakness, and by the development of a cardiac disease in adulthood. Impo...

journal_title：Human genetics

authors： Granger B,Gueneau L,Drouin-Garraud V,Pedergnana V,Gagnon F,Ben Yaou R,Tezenas du Montcel S,Bonne G

更新日期：2011-02-01 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：:The epidemiological, teratological and genetic data on 134 index patients with omphalocele (79 isolated and 55 multiple ones) and on 134 matched controls born in Hungary 1970-1976 were studied medical records and by retrospective interview. The stillbirth rate and infant mortality are significantly higher, and there i...

journal_title：Human genetics

authors： Czeizel A,Vitéz M

更新日期：1981-01-01 00:00:00

abstract：:A clone with 47 chromosomes was observed in the bone marrow of a patient with aplastic anemia and found to be trisomic for chromosome 6. The abnormal clone was not observed in the peripheral blood. ...

journal_title：Human genetics

authors： Geraedts JP,Haak HL

更新日期：1976-12-29 00:00:00

abstract：:By analyzing c-myc specific fragments from white blood cell DNAs of 98 gastric cancer patients and 46 control subjects, we observed 6 unexpected patterns due to presence of a variant c-myc gene in addition to the normal gene. Restriction enzyme mapping indicated that the variant c-myc gene was the result of a 5' delet...

journal_title：Human genetics

authors： Pellegata NS,Bergamaschi G,Amadori D,Aloia A,Ballarini P,Del Senno L,Amaducci L,Ranzani GN

更新日期：1991-09-01 00:00:00

abstract：:The author engages in further debate between numerous signatories of a letter who disputes that the author has put forward that the anticipated benefits of a personalised program for cancer prevention and screening are unwarranted. In the event that a cancer screening program is an effective means of mortality reducti...

journal_title：Human genetics

authors： Narod SA

更新日期：2019-03-01 00:00:00

abstract：:Vascular twin nevi, i.e., telangiectatic nevus and nevus anemicus occurring together and adjacent to each other, can be explained as twin spots resulting from a somatic recombination. It is so far unclear, however, whether the postulated underlying autosomal recessive mutations are allelic. This problem can be approac...

journal_title：Human genetics

authors： Happle R

更新日期：1991-01-01 00:00:00

abstract：:The Wiskott-Aldrich syndrome protein (WASP) gene was found to be mutated in patients presenting with WAS and in patients showing X-linked thrombocytopenia. Mutation analysis in 19 families of German, Swiss and Turkish descent by single-strand conformation polymorphism and sequencing resulted in the detection of seven ...

journal_title：Human genetics

authors： Schindelhauer D,Weiss M,Hellebrand H,Golla A,Hergersberg M,Seger R,Belohradsky BH,Meindl A

更新日期：1996-07-01 00:00:00

abstract：:The delta F508 mutation and cystic fibrosis (CF) haplotypes with the markers KM19, pMP6d-9 and J3.11 are described in 54 adult British CF patients. delta F508 was found on 70% of all CF chromosomes, on none of the normal chromosomes and on only 37.5% of pancreatic sufficient CF chromosomes. All patients with meconium ...

journal_title：Human genetics

authors： Santis G,Osborne L,Knight R,Ramsay M,Williamson R,Hodson M

更新日期：1990-09-01 00:00:00

abstract：:We have isolated cDNA clones from a human NK cell cDNA library that encode the serine protease granzyme B. Although the sequence of the entire coding region for the mature protein and the 3' untranslated region of the clone are identical to other cDNA isolates of this gene obtained from human T cell cDNA libraries, th...

journal_title：Human genetics

authors： Dahl CA,Bach FH,Chan W,Huebner K,Russo G,Croce CM,Herfurth T,Cairns JS

更新日期：1990-04-01 00:00:00

abstract：:The expression of imprinted genes is mediated by allele-specific epigenetic modification of genomic DNA and chromatin, including parent of origin-specific DNA methylation. Dysregulation of these genes causes a range of disorders affecting pre- and post-natal growth and neurological function. We investigated a cohort o...

journal_title：Human genetics

authors： Mackay DJ,Boonen SE,Clayton-Smith J,Goodship J,Hahnemann JM,Kant SG,Njølstad PR,Robin NH,Robinson DO,Siebert R,Shield JP,White HE,Temple IK

更新日期：2006-09-01 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：:A case of ring chromosome 15 passed on to the index patient's two children is reported, and possible reasons for the infrequent records of inheritance of ring chromosome are suggested. ...

journal_title：Human genetics

authors： Fujimaki W,Baba K,Tatara K,Umezu R,Kusakawa S,Mashima Y

更新日期：1987-07-01 00:00:00

abstract：:We have examined the c-Ha-ras locus in 145 cancer patients of a mixed group and 164 normal individuals in Japan for restriction fragment length polymorphisms and compared the allele distributions in normal and cancer populations. The c-Ha-ras gene is highly polymorphic in Japanese as previously reported in Caucasians....

journal_title：Human genetics

authors： Honda K,Ishizaki K,Ikenaga M,Toguchida J,Inamoto T,Tanaka K,Ozawa K

更新日期：1988-08-01 00:00:00

abstract：:Peer behaviour plays an important role in the development of social adjustment, though little is known about its genetic architecture. We conducted a twin study combined with a genome-wide complex trait analysis (GCTA) and a genome-wide screen to characterise genetic influences on problematic peer behaviour during chi...

journal_title：Human genetics

authors： St Pourcain B,Haworth CM,Davis OS,Wang K,Timpson NJ,Evans DM,Kemp JP,Ronald A,Price T,Meaburn E,Ring SM,Golding J,Hakonarson H,Plomin R,Davey Smith G

更新日期：2015-06-01 00:00:00

abstract：:The Tai-Kadai (TK) language family is thought to have originated in southern China and spread to Thailand and Laos, but it is not clear if TK languages spread by demic diffusion (i.e., a migration of people from southern China) or by cultural diffusion, with native Austroasiatic (AA) speakers switching to TK languages...

journal_title：Human genetics

authors： Kutanan W,Kampuansai J,Srikummool M,Kangwanpong D,Ghirotto S,Brunelli A,Stoneking M

更新日期：2017-01-01 00:00:00

abstract：:We previously identified a low-frequency (1.1 %) coding variant (G45R; rs200573126) in the adiponectin gene (ADIPOQ) which was the basis for a multipoint microsatellite linkage signal (LOD = 8.2) for plasma adiponectin levels in Hispanic families. We have empirically evaluated the ability of data from targeted common ...

journal_title：Human genetics

authors： Hellwege JN,Palmer ND,Mark Brown W,Ziegler JT,Sandy An S,Guo X,Ida Chen YD,Taylor K,Hawkins GA,Ng MC,Speliotes EK,Lorenzo C,Norris JM,Rotter JI,Wagenknecht LE,Langefeld CD,Bowden DW

更新日期：2015-02-01 00:00:00

abstract：:Five sequence polymorphisms at the phenylalanine hydroxylase (PAH) gene locus were observed to be in tight association with specific alleles of this locus. Since these polymorphisms can be detected using polymerase chain reaction (PCR) methodology, application of a combination of these polymorphisms reduces the effort...

journal_title：Human genetics

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

更新日期：1994-09-01 00:00:00

abstract：:Fluorescence in situ hybridization (FISH) of chromosome 21 specific yeast artificial chromosome (YAC) clones after Alu-PCR (polymerase chain reaction) amplification has been used to find new region-specific DNA probes for the heterochromatic region of chromosome 21. Six overlapping YAC clones from a pericentromeric co...

journal_title：Human genetics

authors： Yurov YB,Laurent AM,Marcais B,Vorsanova SG,Roizes G

更新日期：1995-03-01 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：:Schizophrenia (SCZ) is a severe psychiatric illness with a lifetime prevalence of 0.4 %. A disturbance of energy metabolism has been suggested as part of the etiopathogenesis of the disorder. Several lines of evidence have proposed a connection between etiopathogenesis of SCZ and human brain evolution, which was chara...

journal_title：Human genetics

authors： Gonçalves VF,Andreazza AC,Kennedy JL

更新日期：2015-01-01 00:00:00

abstract：:Trichorhinophalangeal syndrome type I (TRPS I) is a rare autosomal dominant syndrome caused by haploinsufficiency of TRPS1 due to point mutations or deletions. Here, we report the first familial TRPS I due to a t(8;13)(q23.3;q21.31) translocation breakpoint <100 kb from the 5' end of TRPS1. Based on the additional abn...

journal_title：Human genetics

authors： David D,Marques B,Ferreira C,Araújo C,Vieira L,Soares G,Dias C,Pinto M

更新日期：2013-11-01 00:00:00

abstract：:Cytochrome c oxidase (COX) deficiency causes a variety of neuromuscular and non-neuromuscular disorders in childhood and adulthood and can theoretically undergo either a nuclear or a mitochondrial (mt) mode of inheritance, making genetic counseling in COX deficiency particularly hazardous. In an attempt to determine t...

journal_title：Human genetics

authors： Parfait B,Percheron A,Chretien D,Rustin P,Munnich A,Rötig A

更新日期：1997-12-01 00:00:00

abstract：:We have observed a T-->C mutation at position +96 of the untranslated region 3' to the terminating codon of the beta-globin gene in members of two Czech families and one black family. Data from initial studies suggested that this change was the cause of a beta-thalassemia, but continued analyses have provided convinci...

journal_title：Human genetics

authors： Divoky V,Baysal E,Oner R,Cürük MA,Walker EL 3rd,Indrak K,Huisman TH

更新日期：1994-01-01 00:00:00

abstract：:Assigning a pathogenic role to mitochondrial DNA (mtDNA) variants and unveiling the potential involvement of the mitochondrial genome in diseases are challenging tasks in human medicine. Assuming that rare variants are more likely to be damaging, we designed a phylogeny-based prioritization workflow to obtain a reliab...

journal_title：Human genetics

authors： Santorsola M,Calabrese C,Girolimetti G,Diroma MA,Gasparre G,Attimonelli M

更新日期：2016-01-01 00:00:00

abstract：:Aniridia is a severe eye disease characterized by iris hypoplasia; both sporadic cases and familial cases with an autosomal dominant inheritance exist. Mutations in the PAX6 gene have been shown to be the genetic cause of the disease. Some of the sporadic cases are caused by large chromosomal deletions, some of which ...

journal_title：Human genetics

authors： Grønskov K,Olsen JH,Sand A,Pedersen W,Carlsen N,Bak Jylling AM,Lyngbye T,Brøndum-Nielsen K,Rosenberg T

更新日期：2001-07-01 00:00:00