Familial transmission of 16p trisomy in an infant.

abstract：:Among the different subtypes of Ehlers-Danlos syndrome (EDS), the dominant types I-III have, so far, been uninformative biochemically and molecular genetically, and diagnostic problems with subgroup boundaries often arise. We have investigated the ultrastructural pattern of connective tissue macromolecules in skin bio...

journal_title：Human genetics

authors： Hausser I,Anton-Lamprecht I

更新日期：1994-04-01 00:00:00

abstract：:Eight polymorphic restriction enzyme sites at the phenylalanine hydroxylase (PAH) locus were analyzed from the parental chromosomes in 33 Danish nuclear families with at least one phenylketonuric (PKU) child. Determination of haplotypes of 66 normal chromosomes and 66 chromosomes bearing mutant allele(s) demonstrated ...

journal_title：Human genetics

authors： Chakraborty R,Lidsky AS,Daiger SP,Güttler F,Sullivan S,Dilella AG,Woo SL

更新日期：1987-05-01 00:00:00

abstract：:The case of a newborn girl with Zellweger syndrome and a pericentric inversion of chromosome 7, 46,XX, inv(7)(p12q11.23), is reported. The diagnosis was confirmed by marked deficiency of peroxisomal beta-oxidation enzymes in hepatic cells from autopsy samples. This is the second case of Zellweger syndrome associated w...

journal_title：Human genetics

authors： Naritomi K,Izumikawa Y,Ohshiro S,Yoshida K,Shimozawa N,Suzuki Y,Orii T,Hirayama K

更新日期：1989-12-01 00:00:00

abstract：:The extent of linkage equilibrium was estimated among four recently characterized human fibrinogen restriction fragment length polymorphisms (RFLPs) using a randomly selected group of 110 individuals from California. Two coding region RFLPs, RsaI and MnlI (FGA codon 312 and FGB codon 448, respectively), and two RFLPs ...

journal_title：Human genetics

authors： Baumann RE,Henschen AH

更新日期：1994-08-01 00:00:00

abstract：:The premeiotic and meiotic stages are described in the pollen mother cells of the liliaceous plant Eremurus. In human oocytes from embryonic ovaries, the premeiotic and early meiotic stages up to dictyotene have been identified on morphological grounds. In Eremurus, in which each stage can be independently verified by...

journal_title：Human genetics

authors： Therman E,Sarto GE

更新日期：1977-02-11 00:00:00

abstract：:We have isolated an X chromosome probe, St35.691 (DXS305), which detects two RFLPs with TaqI and PstI, whose combined heterozygosity is about 60%. This probe has been assigned to Xq28 by physical and genetic mapping and is very closely linked to DXS52, DXS15, and the coagulation factor VIII gene (F8C). The best estima...

journal_title：Human genetics

authors： Vincent A,Kretz C,Oberlé I,Mandel JL

更新日期：1989-04-01 00:00:00

abstract：:Wegener's granulomatosis (WG) is a systemic disease with complex genetic background. It is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis and the presence of antineutrophil cytoplasmatic autoantibodies (C-ANCAs) in sera of patients. Here...

journal_title：Human genetics

authors： Jagiello P,Gencik M,Arning L,Wieczorek S,Kunstmann E,Csernok E,Gross WL,Epplen JT

更新日期：2004-04-01 00:00:00

abstract：:The arbitrarily primed-PCR (AP-PCR) genomic fingerprinting method was applied to evaluate its effectiveness in detecting and characterizing amplified DNA fragments in two small-cell lung carcinoma (SCLC) cell lines, NCI-H69 and NCI-H82. Of the 2428 DNA fragments detected by AP-PCR using 62 arbitrary primers, 2 (0.08%)...

journal_title：Human genetics

authors： Okazaki T,Takita J,Kohno T,Handa H,Yokota J

更新日期：1996-09-01 00:00:00

abstract：:Adenine phosphoribosyltransferase (APRT) deficiency leading to 2,8-dihydroxyadenine (DHA) urolithiasis has been considered a rare cause of urolithiasis and renal insufficiency. We have examined samples from 19 Japanese families with DHA lithiasis. In 79% of the families, patients only partially lacked hemolysate APRT ...

journal_title：Human genetics

authors： Kamatani N,Terai C,Kuroshima S,Nishioka K,Mikanagi K

更新日期：1987-02-01 00:00:00

abstract：:Yolk sac tumors are the most frequent kind of malignant pediatric germ cell tumor and may have a fundamentally different pathogenesis than adult germ cell tumors. Since few cytogenetic studies have been performed so far, in situ hybridization was applied to interphase cell nuclei of seven gonadal yolk sac tumors of ch...

journal_title：Human genetics

authors： Jenderny J,Köster E,Meyer A,Borchers O,Grote W,Harms D,Jänig U

更新日期：1995-12-01 00:00:00

abstract：:Scapuloperoneal spinal muscular atrophy (SPSMA) is a neuromuscular disorder characterized by weakness in the distribution of shoulder girdle and peroneal muscles. We have previously described a large New England kindred with autosomal dominant SPSMA and have subsequently linked this family trait to 12q24.1-q24.31. In ...

journal_title：Human genetics

authors： Isozumi K,DeLong R,Kaplan J,Hung WY,Siddique T

更新日期：1997-06-01 00:00:00

abstract：:Mutations in the human patched gene have recently been detected in patients with naevoid basal cell carcinoma syndrome. We have characterised a further 5 novel germ line mutations in patients presenting with multiple odontogenic keratocysts. Four mutations cause premature stop codons and one mutation results in an ami...

journal_title：Human genetics

authors： Lench NJ,Telford EA,High AS,Markham AF,Wicking C,Wainwright BJ

更新日期：1997-10-01 00:00:00

abstract：:We conducted an association study to identify risk variants for familial prostate cancer within the HPCX locus at Xq27 among Americans of Northern European descent. We investigated a total of 507 familial prostate cancer probands and 507 age-matched controls without a personal or family history of prostate cancer. The...

journal_title：Human genetics

authors： Yaspan BL,McReynolds KM,Elmore JB,Breyer JP,Bradley KM,Smith JR

更新日期：2008-05-01 00:00:00

abstract：:In man a common fragile site is known to occur at 3p14. We studied the expression of this fragility in a group of 70 normal healthy subjects. Chromosome breaks, chromatid breaks and gaps at 3p14 could be observed in every examined individual, and in a total of 7000 metaphases they were seen in a mean of 4% of cells. F...

journal_title：Human genetics

authors： Smeets DF,Scheres JM,Hustinx TW

更新日期：1986-03-01 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：:A girl, who died at 14 years of age from a rapidly progressive mitochondrial myopathy, was found to be heteroplasmic for a mutation in the mitochondrial tRNALeu(UUR) gene at position 3251. A large proportion of muscle fibres contained accumulations of abnormal mitochondria but no cytochrome c oxidase deficient fibres ...

journal_title：Human genetics

authors： Houshmand M,Larsson NG,Oldfors A,Tulinius M,Holme E

更新日期：1996-03-01 00:00:00

abstract：:The Xq27.3 fragile site was found to be expressed in an XXX woman, who was mentally and physically normal, and in her son who was mentally retarded and showed behavioural and physical features characteristic of the fragile X syndrome. ...

journal_title：Human genetics

authors： Fuster C,Templado C,Miró R,Barrios L,Egozcue J

更新日期：1988-03-01 00:00:00

abstract：:A familial t(X;2) (p223;q323) is responsible for partial trisomy 2q in the proposita, a 3-year-old girl with severe mental retardation and hypotrophia. It is present in the balanced state in the mother, two daughters, and one son. X-replication was studied after BUDR incroporation and acridine orange staining. The rep...

journal_title：Human genetics

authors： Turleau C,Chavin-Colin F,de Grouchy J,Repessé G,Beauvais P

更新日期：1977-06-10 00:00:00

abstract：:In a systematic screening for mutations in the gene encoding the cystic fibrosis transmembrane regulator among Danish cystic fibrosis (CF) patients, we identified a mutation in exon 3 (394delTT); this mutation was found to be relatively common in Denmark. We therefore screened for 394delTT in Sweden and Norway, where ...

journal_title：Human genetics

authors： Schwartz M,Anvret M,Claustres M,Eiken HG,Eiklid K,Schaedel C,Stolpe L,Tranebjaerg L

更新日期：1994-02-01 00:00:00

abstract：:The fatty acid-binding proteins (FABPs) are cytoplasmic proteins involved in intracellular fatty acid transport and metabolism. FABP2, the intestinal-type FABP, is expressed exclusively in enterocytes in the small intestine. In previous studies of an Ala54Thr substitution in FABP2, the Thr-allele showed association wi...

journal_title：Human genetics

authors： Damcott CM,Feingold E,Moffett SP,Barmada MM,Marshall JA,Hamman RF,Ferrell RE

更新日期：2003-05-01 00:00:00

abstract：:The Gm types of 515 inhabitants of Belém and 395 inhabitants of Porto Alegre, Brazil were studied in an attempt to quantitatively estimate ethnic parental contributions. The people from Belém can be characterized as 24% black, 22% Indian, and 54% Caucasian. The Porto Alegre blacks seem to have inherited as much as 53%...

journal_title：Human genetics

authors： Schneider H,Salzano FM

更新日期：1979-01-01 00:00:00

abstract：:Every author has erroneously been assigned to the affiliation "62". The affiliation 62 belongs to the author Graham Casey. ...

journal_title：Human genetics

authors： Bien SA,Su YR,Conti DV,Harrison TA,Qu C,Guo X,Lu Y,Albanes D,Auer PL,Banbury BL,Berndt SI,Bézieau S,Brenner H,Buchanan DD,Caan BJ,Campbell PT,Carlson CS,Chan AT,Chang-Claude J,Chen S,Connolly CM,Easton DF,Fesk

更新日期：2019-07-01 00:00:00

abstract：:Hereditary ovalocytosis in Papua New Guinea is restricted to areas of endemic malaria and may confer increased resistance to the disease. The incidence of malaria was investigated in 1616 Melanesiams of known red cell morphology and severity of infection determined in a smaller subsample. Ovalocytics tended to be more...

journal_title：Human genetics

authors： Serjeantson S,Bryson K,Amato D,Babona D

更新日期：1977-06-30 00:00:00

abstract：:To dissect the genetic architecture of sexual dimorphism in obesity-related traits, we evaluated the sex-genotype interaction, sex-specific heritability and genome-wide linkages for seven measurements related to obesity. A total of 1,365 non-diabetic Chinese subjects from the family study of the Stanford Asia-Pacific ...

journal_title：Human genetics

authors： Chiu YF,Chuang LM,Kao HY,Shih KC,Lin MW,Lee WJ,Quertermous T,Curb JD,Chen I,Rodriguez BL,Hsiung CA

更新日期：2010-11-01 00:00:00

abstract：:The selective staining of a single butyrylesterase, following isoelectric focusing of red cell lysates from 14 mammalian species, including man, was achieved using the chromogenic substrate N-acetyl-L-alanine-alpha-naphthyl ester. This procedure optimized the identification of this enzyme, and a close correspondence o...

journal_title：Human genetics

authors： von Deimling O,de Looze S

更新日期：1983-01-01 00:00:00

abstract：:A family is reported in which the mother and two sons are carriers of a Y-to-X translocation, der (X)t(X;Y) (p22;q11). All the the three carriers have short stature and disproportion of extremities, but otherwise normal phenotype. One of the sons, the propositus, has been affected with schizophrenia. Evidence was obta...

journal_title：Human genetics

authors： Yamada K,Nanko S,Hattori S,Isurugi K

更新日期：1982-01-01 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：: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：:A method based on a combination of cell culture and pharmacokinetic data is explored as a way of estimating the possible genetic risk to man from a mutagenic chemical. 8-methoxypsoralen, which is given to psoriasis patients as part of a photochemotherapy regime, is used, since it represents a 'real-life' situation and...

journal_title：Human genetics

authors： Bridges BA

更新日期：1979-05-23 00:00:00

abstract：:De novo chromosome structural abnormalities cannot always be diagnosed by the use of standard cytogenetic techniques. We applied a previously developed chromosome-band-specific painting method to the diagnosis of such rearrangements. The diagnostic procedures consisted of microdissection of an aberrant chromosomal reg...

journal_title：Human genetics

authors： Ohta T,Tohma T,Soejima H,Fukushima Y,Nagai T,Yoshiura K,Jinno Y,Niikawa N

更新日期：1993-08-01 00:00:00