A study on duplications of the dystrophin gene: evidence of a geographical difference in the distribution of breakpoints by intron.

abstract：:A pilot project offering voluntary heterozygote screening for the delta F508 mutation causing cystic fibrosis (CF) to 638 pregnant women attending two antenatal clinics in the eastern part of Berlin was carried out from 1990-1993. Participation was invited using an information leaflet and inclusion in the study was co...

journal_title：Human genetics

authors： Jung U,Urner U,Grade K,Coutelle C

更新日期：1994-07-01 00:00:00

abstract：:Dermatoglyphics of 11 patients with Wilson's disease and 16 of their clinically asymptomatic relatives of first degree were investigated; 11 of the latter ones were heterozygous in agreement with the turn over rates of Cu-67, 12 under the assumption of autosomal recessive inheritance. On the finger tips the Mb. Wilson...

journal_title：Human genetics

authors： Vormittag W,Weninger M,Willvonseder R,Wewalka F

更新日期：1976-02-29 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：:Chromosome preparations from four subjects, one normal 46,XY male and three patients with different rearrangements of chromosome 11: 46,XX,del(11)(p11.2----p15.1), 46,XY,inv(11)(p13q24.2), and 46,XY,rec(11)inv(11)(p13q24.2) pat, were utilized for in situ hybridization studies with a tritium-labeled cDNA probe containi...

journal_title：Human genetics

authors： Magenis RE,Donlon TA,Tomar DR

更新日期：1985-01-01 00:00:00

abstract：:We have used four independently isolated cDNA probes for human apolipoprotein B (apo B), to isolate overlapping genomic recombinants for the 3' portion of the apo B gene. The cDNA clones and a unique fragment from the genomic recombinant have been used to identify the human apo B gene in DNA from a series of rodent X ...

journal_title：Human genetics

authors： Barni N,Talmud PJ,Carlsson P,Azoulay M,Darnfors C,Harding D,Weil D,Grzeschik KH,Bjursell G,Junien C

更新日期：1986-08-01 00:00:00

abstract：:With rapid developments in genomic and digital technologies, genomic data sharing has become a key issue for the achievement of precision medicine in South Korea. The legal and administrative framework for data sharing and protection in this country is currently under intense scrutiny from national and international s...

journal_title：Human genetics

authors： Kim H,Kim SY,Joly Y

更新日期：2018-08-01 00:00:00

abstract：:Phenotypes and gene frequencies are presented for 20 serum and erythrocyte proteins in two Amerindian populations of inner French Guiana. No genetic variability was detected in 12 of these systems. Heterozygosity was calculated for the others and the reasons for its variation are discussed. ...

journal_title：Human genetics

authors： Tchen P,Bois E,Séger J,Grenand P,Feingold N,Feingold J

更新日期：1978-12-29 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：:Deletions in 17q11.2 affecting the NF1 gene and surrounding regions occur in 5% of patients with NF1. The two major types of NF1 deletions encompass 1.4-Mb and 1.2-Mb, respectively, and have breakpoints in the NF1 low-copy repeats or in the JJAZ gene and its pseudogene. Deletions larger than 1.4-Mb are rare, and only ...

journal_title：Human genetics

authors： Kehrer-Sawatzki H,Kluwe L,Fünsterer C,Mautner VF

更新日期：2005-05-01 00:00:00

abstract：:Most individuals with osteogenesis imperfecta (OI) are heterozygous for dominant mutations in one of the genes that encode the chains of type I collagen. Each of the more than 30 mutations characterized to date has been unique to the affected member(s) of the family. We have determined that two individuals with a prog...

journal_title：Human genetics

authors： Pruchno CJ,Cohn DH,Wallis GA,Willing MC,Starman BJ,Zhang XM,Byers PH

更新日期：1991-05-01 00:00:00

abstract：:cDNA probe of the casein kinase 2 alpha subunit gene detects a biallelic PstI polymorphism. This restriction fragment length polymorphism is the first known genetic marker of this gene. ...

journal_title：Human genetics

authors： Singh S,Jantke I,Simon M,Meybohm I,Boldyreff B,Issinger O,Goedde HW

更新日期：1994-04-01 00:00:00

abstract：:High resolution cytogenetics, microsatellite marker analyses, and fluorescence in situ hybridization were used to define Xq deletions encompassing the fragile X gene, FMR1, detected in individuals from two unrelated families. In Family 1, a 19-year-old male had facial features consistent with fragile X syndrome; howev...

journal_title：Human genetics

authors： Wolff DJ,Gustashaw KM,Zurcher V,Ko L,White W,Weiss L,Van Dyke DL,Schwartz S,Willard HF

更新日期：1997-08-01 00:00:00

abstract：:Following the application of two-color fluorescence in-situ hybridization (FISH) to human interphase cells, we examined the replication timing of the fragile-X locus relative to the non-transcribed late replicating alpha-satellite region of chromosome-X, a built-in intracellular reference locus. In this assay, an unre...

journal_title：Human genetics

authors： Yeshaya J,Shalgi R,Shohat M,Avivi L

更新日期：1998-01-01 00:00:00

abstract：:A simple routine method for detecting individuals who are heterozygous for the silent gene Gt 0 is presented. This method consists of a combination of electrophoresis and densitometry. The results confirm the theoretical expectation that these individuals would exhibit about 50% of the enzyme activity found in the cor...

journal_title：Human genetics

authors： Siebert G,Kömpf J,Ritter H

更新日期：1980-01-01 00:00:00

abstract：:Retroelements (REs) occupy up to 40% of the human genome. Newly integrated REs can change the pattern of expression of pre-existing host genes and therefore might play a significant role in evolution. In particular, human- and primate-specific REs could affect the divergence of the Hominoidea superfamily. A comparativ...

journal_title：Human genetics

authors： Buzdin A,Ustyugova S,Gogvadze E,Lebedev Y,Hunsmann G,Sverdlov E

更新日期：2003-05-01 00:00:00

abstract：:We report a Mexican family in which two sibs were identified as "classic" XX males without genital ambiguities. Molecular studies revealed that both patients were negative for several Y sequences, including SRY. A review of familial cases disclosed that this is the first family where a complete male phenotype was obse...

journal_title：Human genetics

authors： Zenteno JC,López M,Vera C,Méndez JP,Kofman-Alfaro S

更新日期：1997-10-01 00:00:00

abstract：:Three families with infants affected with campomelic dysplasia, a genetically determined mesenchymal disease frequently associated with sex reversal were studied. Two XY females with ovarian gonadal differentiation and typical clinical features of campomelic dysplasia could be tested for H-Y antigen and were found to ...

journal_title：Human genetics

authors： Bricarelli FD,Fraccaro M,Lindsten J,Müller U,Baggio P,Carbone LD,Hjerpe A,Lindgren F,Mayerová A,Ringertz H,Ritzén EM,Rovetta DC,Sicchero C,Wolf U

更新日期：1981-01-01 00:00:00

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：:Alpha thalassemia retardation associated with chromosome16 (ATR-16 syndrome) is defined as a contiguous gene syndrome resulting from haploinsufficiency of the alpha-globin gene cluster and genes involved in mental retardation (MR). To date, only few cases have been described which result from pure monosomy for a delet...

journal_title：Human genetics

authors： Harteveld CL,Kriek M,Bijlsma EK,Erjavec Z,Balak D,Phylipsen M,Voskamp A,di Capua E,White SJ,Giordano PC

更新日期：2007-11-01 00:00:00

abstract：:Basal levels of C-reactive protein (CRP) have been associated with disease, particularly future cardiovascular events. Twin studies estimate 50% CRP heritability, so the identification of genetic variants influencing CRP expression is important. Existing studies in populations of European ancestry have identified nume...

journal_title：Human genetics

authors： Rhodes B,Morris DL,Subrahmanyan L,Aubin C,de Leon CF,Kelly JF,Evans DA,Whittaker JC,Oksenberg JR,De Jager PL,Vyse TJ

更新日期：2008-07-01 00:00:00

abstract：:To elucidate genetic abnormalities in type I CD36 deficiency, we analyzed 28 Japanese subjects whose platelets and monocytes/macrophages lacked CD36 on their surface. We identified two novel mutations in the CD36 gene. One was a complex deletion/insertion mutation, in which 3 bp, GAG, were deleted at nucleotide (nt) 8...

journal_title：Human genetics

authors： Kashiwagi H,Tomiyama Y,Nozaki S,Kiyoi T,Tadokoro S,Matsumoto K,Honda S,Kosugi S,Kurata Y,Matsuzawa Y

更新日期：2001-06-01 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：:A ring chromosome No. 13 was found in a 21-year-old female with multiple anomalies suggestive of 13q--syndrome. Chromosomes of the girl and her parents, studied by quinacrine staining, revealed the ring to be of paternal origin. Detailed study of the quinacrine banding pattern of the ring indicated loss of the most di...

journal_title：Human genetics

authors： Magenis RE,Wyandt HE,Overton KM,Macfarlane J

更新日期：1976-07-27 00:00:00

abstract：:The significance of short and long arm anomalies of chromosome 1 was investigated in 55 colorectal tumors comprising 41 carcinomas and 14 adenomas. The tumors were at various stages of transformation from adenoma to carcinoma. Our investigation was prompted by the observation of a p32-pter deletion on the short arm of...

journal_title：Human genetics

authors： Couturier-Turpin MH,Esnous C,Louvel A,Poirier Y,Couturier D

更新日期：1992-02-01 00:00:00

abstract：:While recent studies have revealed a substantial portion of the genes underlying human hearing loss, the extensive genetic landscape has not been completely explored. Here, we report a loss-of-function variant (c.72delA) in MPZL2 in three unrelated multiplex families from Turkey and Iran with autosomal recessive nonsy...

journal_title：Human genetics

authors： Bademci G,Abad C,Incesulu A,Rad A,Alper O,Kolb SM,Cengiz FB,Diaz-Horta O,Silan F,Mihci E,Ocak E,Najafi M,Maroofian R,Yilmaz E,Nur BG,Duman D,Guo S,Sant DW,Wang G,Monje PV,Haaf T,Blanton SH,Vona B,Walz K,Te

更新日期：2018-07-01 00:00:00

abstract：:A severe hemolytic crisis was observed in a 5-year-old boy of Italian origin. Analysis of his hemolysate revealed a hemizygous deficiency of glucose-6-phosphate dehydrogenase (G6PD) and a heterozygous deficiency of glucosephosphate isomerase (GPI). According to the literature this is the fourth family with a combined ...

journal_title：Human genetics

authors： Arnold H,Löhr GW,Hasslinger K,Ludwig R

更新日期：1981-01-01 00:00:00

abstract：:Laird et al. (1987) hypothesized that there are at least four cis-acting alleles or 'chromosome states' at Xq27 that increasingly delay replication at this chromosomal area resulting in its increasing fragility in vitro. When on the inactive X chromosome, the proposed third ('mutated') allele can permanently block rea...

journal_title：Human genetics

authors： Yu WD,Wenger SL,Steele MW

更新日期：1990-10-01 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：: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：: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