Replication status of the fragile X chromosome, fra(X)(q27), in three heterozygous females.

abstract：:Loss-of-function mutations in several different neuronal pathways have been related to intellectual disability (ID). Such mutations often are found on the X chromosome in males since they result in functional null alleles. So far, microdeletions at Xq24 reported in males always have been associated with a syndromic fo...

journal_title：Human genetics

authors： Vandewalle J,Bauters M,Van Esch H,Belet S,Verbeeck J,Fieremans N,Holvoet M,Vento J,Spreiz A,Kotzot D,Haberlandt E,Rosenfeld J,Andrieux J,Delobel B,Dehouck MB,Devriendt K,Fryns JP,Marynen P,Goldstein A,Froyen G

更新日期：2013-10-01 00:00:00

abstract：:We describe a common dystrophin gene polymorphism in the black population that alters both HindIII and BglII restriction sites. ...

journal_title：Human genetics

authors： Prior TW,Papp AC,Snyder PJ,Burghes AH,Wallace BH

更新日期：1992-08-01 00:00:00

abstract：:Human tumor cells, after x-irradiation during the G2 phase of the cell cycle, show an abnormally high frequency of persistent chromatid breaks and gaps resulting from deficient DNA repair. Addition of a single human chromosome 11 from normal fibroblasts by micro-cell fusion to cell lines from six different tumors resu...

journal_title：Human genetics

authors： Parshad R,Price FM,Oshimura M,Barrett JC,Satoh H,Weissman BE,Stanbridge EJ,Sanford KK

更新日期：1992-03-01 00:00:00

abstract：:Seven patients are described who have some or all of the symptoms of Prader-Willi syndrome. They were ascertained by varying criteria starting either from the clinical picture or from the identification of a chromosome abnormality involving the proximal portion of the long arm of chromosome 15. The chromosome abnormal...

journal_title：Human genetics

authors： Fraccaro M,Zuffardi O,Bühler E,Schinzel A,Simoni G,Witkowski R,Bonifaci E,Caufin D,Cignacco G,Delendi N

更新日期：1983-01-01 00:00:00

abstract：:We describe two polymorphic microsatellites in intron 27 of the neurofibromatosis type 1 (NF1) gene. The microsatellites consist of TG/AC and AC/TG dinucleotide repeats detecting five and seven alleles and with heterozygosities of 0.46 and 0.72, respectively. These microsatellites are useful tools both for direct and ...

journal_title：Human genetics

authors： Lázaro C,Gaona A,Estivill X

更新日期：1994-03-01 00:00:00

abstract：:In a large kindred with X-linked Menkes disease, linkage studies were performed with a restriction fragment length polymorphism (RFLP) that had been found with a cloned hybridisation probe from the proximal short arm of the X chromosome. This RFLP was considered as a potential genetic marker since the Menkes gene seem...

journal_title：Human genetics

authors： Wieacker P,Horn N,Pearson P,Wienker TF,McKay E,Ropers HH

更新日期：1983-01-01 00:00:00

abstract：:Myotonic dystrophy (DM) is a dominantly inherited neuromuscular disorder characterised by muscle weakness and wasting. There are two forms of DM; both of which are caused by the expansion of repeated DNA sequences. DM1 is associated with a CTG repeat located in the 3' untranslated region of a gene, DMPK and DM2 with a...

journal_title：Human genetics

authors： Machuca-Tzili L,Thorpe H,Robinson TE,Sewry C,Brook JD

更新日期：2006-11-01 00:00:00

abstract：:A previous analysis of mtDNA variation in the Caucasus found that Indo-European-speaking Armenians and Turkic-speaking Azerbaijanians were more closely related genetically to other Caucasus populations (who speak Caucasian languages) than to other Indo-European or Turkic groups, respectively. Armenian and Azerbaijania...

journal_title：Human genetics

authors： Nasidze I,Sarkisian T,Kerimov A,Stoneking M

更新日期：2003-03-01 00:00:00

abstract：:Two reciprocal balanced translocations involving chromosomes 2, 9, 12, and 18 were found in the karyotype of a woman with a child showing several congenital malformations at birth. Prenatal cytogenetic diagnosis, performed when a second pregnancy occurred, showed a normal chromosome constitution in the foetus. ...

journal_title：Human genetics

authors： Simoni G,Montali E,Rossella F,Dalprà L,Lo Curto F

更新日期：1979-01-25 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：: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：: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：:Chromosome studies were carried out in four members of a sibship with a 15p+ chromosome. Two carriers had normal offspring, one was unmarried, and the index case had three abortions and no live children. By means of different banding techniques, up to four satellites and four stalks could be observed on the abnormal c...

journal_title：Human genetics

authors： Pérez-Castillo A,Martín-Lucas MA,Abrisqueta JA

更新日期：1986-01-01 00:00:00

abstract：:We have used the human-sperm/hamster-egg system to compare the frequencies of structural and numerical chromosomal aberrations in 909 sperm karyotypes from four normal healthy men. The frequency of structural aberrations was 1.3, 4.8, 9.0, and 10.4% respectively in the four donors. Certain specific breakpoints were se...

journal_title：Human genetics

authors： Brandriff B,Gordon L,Ashworth L,Watchmaker G,Carrano A,Wyrobek A

更新日期：1984-01-01 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

abstract：:Hypohaptoglobinaemia and ahaptoglobinaemia occurred in three generations, mainly to male members of a family. Also small amounts of haptoglobin were detected in most of the female relatives. Haemolytic anaemia seemed likely and the glucose 6 phosphate dehydrogenase (G.6.P.D.) activity was normal. The probable genotype...

journal_title：Human genetics

authors： Lefranc G,Lefranc MP,Seger J,Salier JP,Chakhachiro L,Loiselet J

更新日期：1981-01-01 00:00:00

abstract：:A girl with 46, XX, del (11) (q23), inv (9) (p13, q13) is described. The patient shows many dysplastic signs mainly of the face and skull. The pericentric inversion of chromosome 9 has been inherited from the mother (46, XX, inv (9) (p13, q13)). ...

journal_title：Human genetics

authors： Zabel B,Hansen S,Hilig U,Gröting-Imhof H

更新日期：1977-04-07 00:00:00

abstract：:Alzheimer disease (AD) is a devastating neurodegenerative disease leading to global dementia. The familial form (FAD) has been linked to markers on chromosome 21 in some families, most tightly to the loci D21S16 and D21S13 located close to the centromere of the long arm. In other families the FAD mutation has been exc...

journal_title：Human genetics

authors： Pulst SM,Fain P,Cohn V,Nee LE,Polinsky RJ,Korenberg JR

更新日期：1991-06-01 00:00:00

abstract：:Three families with anhidrotic ectodermal dysplasia (AED) have been studied by linkage analysis with seven polymorphic DNA markers from the Xp11-q21 region. Previously reported linkage to DXYS1 (Xq13-q21) has been confirmed (z (theta) = 4.08 at theta = 0.05) and we have also established linkage to another polymorphic ...

journal_title：Human genetics

authors： Hanauer A,Alembik Y,Arveiler B,Formiga L,Gilgenkrantz S,Mandel JL

更新日期：1988-10-01 00:00:00

abstract：:Interspersed simple repetitive DNA is a convenient genetic marker for analysis of restriction fragment length polymorphisms (RFLPs) because of the numbers and the frequencies of its alleles. Oligonucleotide probes specific for variations of the GATCA simple repeats have been designed and hybridized to a panel of human...

journal_title：Human genetics

authors： Ali S,Müller CR,Epplen JT

更新日期：1986-11-01 00:00:00

abstract：:The structural abnormality of mRNA for argininosuccinate synthetase (ASS) and the structure of immune cross-reactive material for ASS (ASS-CRM) in the liver of a patient with type III citrullinemia were analyzed using dot and Northern blot hybridization, S1 nuclease analysis, and a sensitive enzyme-linked immunosorben...

journal_title：Human genetics

authors： Kobayashi K,Ichiki H,Saheki T,Tatsuno M,Uchiyama C,Nukada O,Yoda T

更新日期：1987-05-01 00:00:00

abstract：:Red blood cell esterase D (ESD) polymorphism was studied in a French-Canadian population from Quebec city, Canada, by means of high voltage electrophoresis on agarose gel followed, in heterozygotes for ESD 1, by IEF to reveal the possible allele ESD*5. Frequencies of the ESD alleles in 904 unrelated individuals were E...

journal_title：Human genetics

authors： Couture L,Chagnon M,Allard C,Bouchard C

更新日期：1986-07-01 00:00:00

abstract：:Meckel-Gruber syndrome (MKS) is a recessively inherited, lethal disorder characterized by renal cystic dysplasia, occipital encephalocele, polydactyly and biliary dysgenesis. MKS is genetically heterogeneous with three loci mapped and two identified; MKS1 (17q23) and MKS3 (8q22.1). MKS1 is part of the Finnish disease ...

journal_title：Human genetics

authors： Consugar MB,Kubly VJ,Lager DJ,Hommerding CJ,Wong WC,Bakker E,Gattone VH 2nd,Torres VE,Breuning MH,Harris PC

更新日期：2007-06-01 00:00:00

abstract：:Genetic variants in MTHFD1 (5,10-methylenetetrahydrofolate dehydrogenase/5,10-methenyltetrahydrofolate cyclohydrolase/ 10-formyltetrahydrofolate synthetase), an important folate metabolic enzyme, are associated with a number of common diseases, including neural tube defects (NTDs). This study investigates the promoter...

journal_title：Human genetics

authors： Carroll N,Pangilinan F,Molloy AM,Troendle J,Mills JL,Kirke PN,Brody LC,Scott JM,Parle-McDermott A

更新日期：2009-04-01 00:00:00

abstract：:We have identified a rare polymorphism (G to C at nucleotide 1102) in CYBB, which codes for gp91-phox, a component of NADPH oxidase. Polymorphonuclear leukocytes with this enzyme produced normal amounts of superoxide anion. ...

journal_title：Human genetics

authors： Kuribayashi F,de Boer M,Leusen JH,Verhoeven AJ,Roos D

更新日期：1996-05-01 00:00:00

abstract：:DNA sequence analysis and electrophoresis in denaturing gel revealed that a 60 base pair insertion which had been previously postulated on the basis of native polyacrylamide gel electrophoresis of mitochondrial DNA from Japanese (Horai and Matsunaga 1986) did not exist at all. Unusual behavior of certain restriction f...

journal_title：Human genetics

authors： Horai S,Inoue T,Matsunaga E

更新日期：1987-01-01 00:00:00

abstract：:Two cases of primary ring chromosome 2 and one case of a ring secondary to a paternal 2/6 translocation are described and compared with a fourth case of ring 2 from the literature. The breakpoints in two cases are identical and the same as the breakpoint on chromosome 2 in the composite 2/6 ring. The three primary rin...

journal_title：Human genetics

authors： Maraschio P,Danesino C,Garau A,Saputo V,Vigi V,Volpato S

更新日期：1979-04-27 00:00:00

abstract：:An new type of translocation, t(10;13)(q25;q11), is observed in a phenotypically normal male who was examined for subfertility. The meiotic behavior of the rearranged chromosomes indicates that crossing-over is very frequent in a rather small segment such as the short arm of chromosome 13 and constant in the distal ba...

journal_title：Human genetics

authors： Laurent C,Biemont MC,Cognat M,Dutrillaux B

更新日期：1977-11-02 00:00:00

abstract：:Malaysians of Malay, Chinese, and Indian ancestries were electrophoretically phenotyped for Amy1 and saliva esterase region 1 (Set-1) from saliva, Amy2 from plasma, soluble and mitochondrial GOT and PGM3 from leukocyte and placenta. Kadazans and Bajaus, the indigenous people of Sabah, East Malaysia were surveyed for A...

journal_title：Human genetics

authors： Teng YS,Tan SG,Lopez CG,Ng T,Lie-Injo LE

更新日期：1978-04-24 00:00:00

abstract：:High throughput sequencing methods have completely transformed the study of human Y chromosome variation by offering a genome-scale view on genetic variation retrieved from ancient human remains in context of a growing number of high coverage whole Y chromosome sequence data from living populations from across the wor...

journal_title：Human genetics

authors： Kivisild T

更新日期：2017-05-01 00:00:00