Screening with the FMR1 protein test among mentally retarded males.

abstract：:Idiopathic pulmonary fibrosis (IPF) is a chronic and progressive fibrotic lung disorder of unknown etiology and unclear pathogenesis. Matrix metalloproteinase-1 (MMP-1) is strongly upregulated and may contribute to the abnormal remodeling that characterizes the disease. We conducted a case-control study of 130 IPF pat...

journal_title：Human genetics

authors： Checa M,Ruiz V,Montaño M,Velázquez-Cruz R,Selman M,Pardo A

更新日期：2008-12-01 00:00:00

abstract：:Spi1 is an oncogene specifically activated in acute murine erythroleukemias induced by the Friend spleen focus forming virus (SFFV). Three probes were used for the chromosomal assignment of the human SPI1 oncogene: cDb1 and RaB2 correspond respectively to murine Spi1 and human SPI1 cDNA probes; C45a6B probe is a murin...

journal_title：Human genetics

authors： Nguyen VC,Ray D,Gross MS,de Tand MF,Frézal J,Moreau-Gachelin F

更新日期：1990-05-01 00:00:00

abstract：:Heritability, the fraction of phenotypic variation explained by genetic variation, has been estimated for many phenotypes in a range of populations, organisms, and time points. The recent development of efficient genotyping and sequencing technology has led researchers to attempt to identify the genetic variants respo...

journal_title：Human genetics

authors： Zaitlen N,Kraft P

更新日期：2012-10-01 00:00:00

abstract：:Sequencing technology is increasingly demonstrating the impact of genomic copy number variation (CNV) on phenotypes. Opposing variation in growth, head size, cognition and behaviour is known to result from deletions and reciprocal duplications of some genomic regions. We propose normative inversion of face shape, oppo...

journal_title：Human genetics

authors： Hammond P,McKee S,Suttie M,Allanson J,Cobben JM,Maas SM,Quarrell O,Smith AC,Lewis S,Tassabehji M,Sisodiya S,Mattina T,Hennekam R

更新日期：2014-09-01 00:00:00

abstract：:An analysis of 11 I Alu insertion polymorphisms (ACE, TPA25, PV92, APO, FXIIIB, D1, A25, B65, HS2.43, HS3.23, and HS4.65) has been performed in several NW African (Northern, Western, and Southeastern Moroccans, Saharawi; Algerians; Tunisians) and Iberian (Basques, Catalans, and Andalusians) populations. Genetic distan...

journal_title：Human genetics

authors： Comas D,Calafell F,Benchemsi N,Helal A,Lefranc G,Stoneking M,Batzer MA,Bertranpetit J,Sajantila A

更新日期：2000-10-01 00:00:00

abstract：:Birth weight has been shown to be associated with obesity and metabolic diseases in adulthood, however, the genetic contribution is still controversial. The objective of this analysis is to explore the genetic contribution to the relationship between birth weight and later risk for obesity and metabolic diseases in Hi...

journal_title：Human genetics

authors： Cai G,Cole SA,Haack K,Butte NF,Comuzzie AG

更新日期：2007-07-01 00:00:00

abstract：:The Na+/H+ antiporter is a ubiquitous membrane-associated protein that plays an important role in the regulation of intracellular pH. APNH, a gene encoding the antiporter, has been cloned and mapped to the short arm of chromosome 1 by in situ hybridization. Using the polymerase chain reaction, we have amplified a 376 ...

journal_title：Human genetics

authors： Dudley CR,Giuffra LA,Tippett P,Kidd KK,Reeders ST

更新日期：1990-11-01 00:00:00

abstract：:The Beckwith-Wiedemann syndrome (BWS) is characterised by multiple congenital abnormalities, including exomphalos, macroglossia, and gigantism. It is also associated with an elevated risk of embryonal neoplasia and occasionally with constitutional anomalies of chromosome band 11p15. A common pathogenetic mechanism for...

journal_title：Human genetics

authors： Little MH,Thomson DB,Hayward NK,Smith PJ

更新日期：1988-06-01 00:00:00

abstract：:The aim of this study was to identify regions of the genome that harbor genes influencing inheritance of bicuspid aortic valve (BAV) and/or associated cardiovascular malformation (CVM). Aortic valve disease is an important clinical problem, which often results in valve replacement, the second most common cardiac surge...

journal_title：Human genetics

authors： Martin LJ,Ramachandran V,Cripe LH,Hinton RB,Andelfinger G,Tabangin M,Shooner K,Keddache M,Benson DW

更新日期：2007-04-01 00:00:00

abstract：:Five live-born infants with Patau syndrome were studied for the nondisjunctional origin of the extra chromosome. Transmission modes of chromosomes 13 from parents to a child were determined using both QFQ- and RFA-heteromorphisms as markers, and the origin was ascertained in all of the patients. The extra chromosome h...

journal_title：Human genetics

authors： Ishikiriyama S,Niikawa N

更新日期：1984-01-01 00:00:00

abstract：:One of the many potential uses of the HapMap project is its application to the investigation of complex disease aetiology among a wide range of populations. This study aims to assess the transferability of HapMap SNP data to the Spanish population in the context of cancer research. We have carried out a genotyping stu...

journal_title：Human genetics

authors： Ribas G,González-Neira A,Salas A,Milne RL,Vega A,Carracedo B,González E,Barroso E,Fernández LP,Yankilevich P,Robledo M,Carracedo A,Benítez J

更新日期：2006-02-01 00:00:00

abstract：:Gene-gene and gene-environment interactions govern a substantial portion of the variation in complex traits and diseases. In convention, a set of either unrelated or family samples are used in detection of such interactions; even when both kinds of data are available, the unrelated and the family samples are analyzed ...

journal_title：Human genetics

authors： Chen GB,Liu N,Klimentidis YC,Zhu X,Zhi D,Wang X,Lou XY

更新日期：2014-02-01 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：:Segregation analysis was performed in three families affected in X-linked agammaglobulinemia (XLA) with five polymorphic DNA probes linked to the disease locus. In agreement with previous studies, no recombination was observed with either pXG12 (DXS94) or S21 (DXS17). Segregation analysis was also performed with a mar...

journal_title：Human genetics

authors： Guioli S,Arveiler B,Bardoni B,Notarangelo LD,Panina P,Duse M,Ugazio A,Oberlé I,de Saint Basile G,Mandel JL

更新日期：1989-12-01 00:00:00

abstract：:Pre-eclampsia is the most common serious medical disorder of human pregnancy. The human endothelial cell nitric oxide synthase (eNOS) gene is a candidate for pre-eclampsia/eclampsia (PE/E) susceptibility. A linkage study was performed on Australian PE/E families using 25 microsatellite markers from chromosome 7, one o...

journal_title：Human genetics

authors： Guo G,Lade JA,Wilton AN,Moses EK,Grehan M,Fu Y,Qiu H,Cooper DW,Brennecke SP

更新日期：1999-12-01 00:00:00

abstract：:Human height is a complex trait regulated by multiple genetic and environmental factors. CYP19 (cytochrome P450 19) encodes aromatase, which catalyses the rate-limiting step in the conversion of androgens to estrogens. Deleterious mutations in CYP19 can result in estrogen deficiency that will influence adult height to...

journal_title：Human genetics

authors： Yang TL,Xiong DH,Guo Y,Recker RR,Deng HW

更新日期：2006-08-01 00:00:00

abstract：:One hundred normal American Blacks (B) were studied by sequential QFQ and RFA banding techniques in order to estimate the type and frequency of heteromorphisms. Color heteromorphisms were classified into one of six colors by RFA and intensity variation into one of five levels by QFQ. The data are compared with a previ...

journal_title：Human genetics

authors： Verma RS,Dosik H

更新日期：1981-01-01 00:00:00

abstract：:As evidenced by a large pedigree with 21 affected members, acrokeratoelastoidosis (AKE) is an autosomal dominant skin disease (10185; McKusick 1978). Linkage with genetic markers already assigned to human chromosomes could help to map the gene for this disease. Therefore 22 markers were investigated in 61 members of t...

journal_title：Human genetics

authors： Greiner J,Krüger J,Palden L,Jung EG,Vogel F

更新日期：1983-01-01 00:00:00

abstract：:Cytogenetic preparations from oocytes remaining unfertilised after in vitro fertilisation revealed single chromatids (as opposed to whole chromosomes) in 4 out of 38 meiosis II metaphases. In one oocyte, a single chromatid was present in addition to the normal 23,X complement, and in three oocytes, two identical but s...

journal_title：Human genetics

authors： Angell RR

更新日期：1991-02-01 00:00:00

abstract：:X chromosome inactivation results in dosage equivalency for X-linked gene expression between males and females. However, some X-linked genes show variable X inactivation, being expressed from the inactive X in some females but subject to inactivation in other women. The human tissue inhibitor of metalloproteinases-1 (...

journal_title：Human genetics

authors： Anderson CL,Brown CJ

更新日期：2002-03-01 00:00:00

abstract：:Twelve diseases, most with neuropsychiatric features, arise from trinucleotide repeat expansion mutations. Expansion mutations may also cause a number of other disorders, including several additional forms of spinocerebellar ataxia, bipolar affective disorder, schizophrenia, and autism. To obtain candiate genes for th...

journal_title：Human genetics

authors： Margolis RL,Abraham MR,Gatchell SB,Li SH,Kidwai AS,Breschel TS,Stine OC,Callahan C,McInnis MG,Ross CA

更新日期：1997-07-01 00:00:00

abstract：:Restriction endonucleases have been recently proved to be active on fixed chromosomes, thus they are useful in chromatin structure studies. Within this class of enzymes, Alu I is able to detect the presence and localization of highly repetitive DNA sequences in human and in other mammalian and dipteran species. In thi...

journal_title：Human genetics

authors： De Stefano GF,Romano E,Ferrucci L

更新日期：1986-03-01 00:00:00

abstract：:Galactosemia is an inborn error of galactose metabolism secondary to deficiency of galactose-1-phosphate uridyl transferase (GALT). GALT is a polymorphic enzyme and Duarte (D) is the most common enzyme variant. This variant is characterized by faster electrophoretic mobility and reduced activity. Duarte/galactosemia c...

journal_title：Human genetics

authors： Lin HC,Kirby LT,Ng WG,Reichardt JK

更新日期：1994-02-01 00:00:00

abstract：:Five families with at least three generations of members affected with autosomal dominant spinocerebellar ataxia (SCA) were studied. HLA typing was carried out and the coded HLA haplotypes were used to calculate the likelihood of linkage using the LIPED computer program. The combined lod scores from these five familie...

journal_title：Human genetics

authors： Kumar D,Blank CE,Gelsthorpe K

更新日期：1986-04-01 00:00:00

abstract：:In this paper genetic, clinical, and epidemiological studies on a muscular dystrophy which originated and is concentrated in the village of Cullar, Nevşehir of inland Turkey, are reported. A pedigree chart has been constructed by careful and repeated inquiries, and both clinical and laboratory examinations have genera...

journal_title：Human genetics

authors： Sayli BS,Yaltkaya K,Cin S

更新日期：1984-01-01 00:00:00

abstract：:Multiple sclerosis (MS) is characterized as an autoimmune demyelinating disease. Numerous family studies have confirmed a strong genetic component underlying its etiology. After several decades of frustrating research, the advent and application of affordable genotyping of dense SNP maps in large data sets has ushered...

journal_title：Human genetics

authors： Zuvich RL,McCauley JL,Oksenberg JR,Sawcer SJ,De Jager PL,International Multiple Sclerosis Genetics Consortium.,Aubin C,Cross AH,Piccio L,Aggarwal NT,Evans D,Hafler DA,Compston A,Hauser SL,Pericak-Vance MA,Haines JL

更新日期：2010-03-01 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：:In this study, we performed an in-depth analysis of the neurologic and ophthalmologic phenotype in a patient with Pitt-Hopkins syndrome (PTHS), a disorder characterized by severe mental and motor retardation, carrying a uniallelic TCF4 deletion, and studied a zebrafish model. The PTHS-patient was characterized by high...

journal_title：Human genetics

authors： Brockschmidt A,Filippi A,Charbel Issa P,Nelles M,Urbach H,Eter N,Driever W,Weber RG

更新日期：2011-11-01 00:00:00

abstract：:Human coagulation factor XII (fXII), a serine protease synthesized in liver and active in plasma, is involved in a wide variety of functions, including blood coagulation, fibrinolysis, bradykinin and complement activation. A complementary DNA (597 bp) encoding amino acid -16 to amino acid 183 of fXII protein was used ...

journal_title：Human genetics

authors： Citarella F,Tripodi M,Fantoni A,Bernardi F,Romeo G,Rocchi M

更新日期：1988-12-01 00:00:00

abstract：:Cytogenetic and molecular genetic findings in 91 patients with Turner syndrome are reported. In 87 patients, chromosome studies were carried out both in lymphocyte and fibroblast cultures. Mosaicism was demonstrated in 58 of these patients (66.7%), whereas only 18 (20.7%) were apparent non-mosaic 45,X, and 11 patients...

journal_title：Human genetics

authors： Held KR,Kerber S,Kaminsky E,Singh S,Goetz P,Seemanova E,Goedde HW

更新日期：1992-01-01 00:00:00