Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity.

abstract：:A cloned cDNA probe encoding human factor IX was used for detecting homologous sequences in rodent human X chromosome hybrids and in human metaphase chromosome preparations. The results of these studies indicate that human factor IX is localized to the Xq27 leads to Xqter region. ...

journal_title：Human genetics

authors： Chance PF,Dyer KA,Kurachi K,Yoshitake S,Ropers HH,Wieacker P,Gartler SM

更新日期：1983-01-01 00:00:00

abstract：:Hereditary spastic paraplegia (HSP) is a genetically heterogenous group of inherited neurodegenerative disorders. Recently, an autosomal recessive form of HSP was mapped to 16q24.3, and subsequently the defective gene associated to HSP was identified and designated SPG7. The SPG7 gene product was predicted to encode a...

journal_title：Human genetics

authors： Pearce DA

更新日期：1999-06-01 00:00:00

abstract：:Autosomal dominant polycystic kidney disease (ADPKD) is one of the most commonly inherited renal diseases. ADPKD is a genetically heterogeneous disorder involving at least three different genes. PKD1, the major locus mapped to chromosome 16p13.3 accounts for approximately 85% of ADPKD cases. The search for mutations i...

journal_title：Human genetics

authors： Perrichot RA,Mercier B,Simon PM,Whebe B,Cledes J,Ferec C

更新日期：1999-09-01 00:00:00

abstract：:Thiamine-responsive megaloblastic anemia (TRMA, also known as Rogers syndrome, OMIM 249270) is a rare autosomal recessive disorder characterized by a triad of megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Patients respond, to varying degrees, to treatment with megadoses of thiamine. We have rece...

journal_title：Human genetics

authors： Raz T,Barrett T,Szargel R,Mandel H,Neufeld EJ,Nosaka K,Viana MB,Cohen N

更新日期：1998-10-01 00:00:00

abstract：:Three 46,XY phenotypically male, azoospermic brothers out of thirteen sibs from a consanguineous marriage were studied and found to have a unique pattern of testicular histology with arrest of spermatogenesis at the pachytene stage of primary spermatocytes. Endocrinological evaluation showed elevated plasma luteinizin...

journal_title：Human genetics

authors： Cantú JM,Rivas F,Hernández-Jáuregui P,Díaz M,Cortés-Gallegos V,Vaca G,Velázquez A,Ibarra B

更新日期：1981-01-01 00:00:00

abstract：:A survey of a number of unselected sera indicated the presence of a variant allele of mitochondrial glutamate-oxaloacetate transaminase (Got2m) in Japanese with appreciable frequency, which was confirmed in white blood cells. The mode of an autosomal codominant inheritance was confirmed by two independent family studi...

journal_title：Human genetics

authors： Toyomasu T,Sakakibara S,Kagamiyama H,Matsumoto H

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：:The precise control of gene expression programs is crucial for the establishment of the diverse gene activity patterns required for the correct development, patterning and differentiation of the myriad of cell types within an organism. The crucial importance of non-coding regions of the genome in the control of gene r...

journal_title：Human genetics

authors： Bhatia S,Kleinjan DA

更新日期：2014-07-01 00:00:00

abstract：:Association studies for complex diseases based on pedigree haplotype or genotype data have received increasing attention in the last few years. The similarity tests are appealing for these studies because they take into account of the DNA structure, but they have blind areas on which significant association can not be...

journal_title：Human genetics

authors： Yuan A,Yue Q,Apprey V,Bonney G

更新日期：2007-08-01 00:00:00

abstract：:A significantly higher frequency of baseline sister chromatid exchange (SCE) was found in the cultured lymphocytes of 13 Blackfoot disease patients (BFP) in comparison with that of healthy persons (HP). Twelve of these BFP consumed well water containing a high concentration of arsenic for 15 years or longer and had sw...

journal_title：Human genetics

authors： Wen WN,Lieu TL,Chang HJ,Wuu SW,Yau ML,Jan KY

更新日期：1981-01-01 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：:A cosmid library was constructed from genomic DNA of a human-mouse somatic cell hybrid containing an 11q-16q translocation chromosome as the only human DNA. Cosmids with human inserts were prehybridized with total human DNA and were screened to find probes that revealed highly polymorphic loci. From one such cosmid, C...

journal_title：Human genetics

authors： Bufton L,Mohandas TK,Magenis RE,Sheehy R,Bestwick RK,Litt M

更新日期：1986-12-01 00:00:00

abstract：:The difference in DNA content of peripheral lymphocytes from normal males, normal females, and an individual with a 48 (xxxy) chromosome constitution was determined by rapid flow microfluorometric techniques. A similar comparison was performed using tissue culture fibroblasts derived from an individual with a 49 (xxxx...

journal_title：Human genetics

authors： Cram LS,Lehman JM

更新日期：1977-06-30 00:00:00

abstract：:Many recent studies have established that haplotype diversity in a small region may not be greatly diminished when the number of markers is reduced to a smaller set of "haplotype-tagging" single-nucleotide polymorphisms (SNPs) that identify the most common haplotypes. These studies are motivated by the assumption that...

journal_title：Human genetics

authors： Zhang W,Collins A,Morton NE

更新日期：2004-07-01 00:00:00

abstract：:Steroid sulfatase activities are significantly higher in placentas obtained after the birth of girls than after the birth of boys, and also in female fibroblasts compared to male strains. This constitutes biochemical evidence for the non-inactivation of the X-linked sulfatase locus. No hydrolytic activity is found in ...

journal_title：Human genetics

authors： Bedin M,Weil D,Fournier T,Cedard L,Frezal J

更新日期：1981-01-01 00:00:00

abstract：:Magnesium-dependent hypocalcaemia (HSH), a rare inherited disease, is caused by selective disorders of magnesium absorption. Both X-linked and autosomal recessive modes of inheritance have been reported for HSH; this suggests a genetically heterogeneous condition. A balanced de novo t(X;9)(p22;q12) translocation has b...

journal_title：Human genetics

authors： Chery M,Biancalana V,Philippe C,Malpuech G,Carla H,Gilgenkrantz S,Mandel JL,Hanauer A

更新日期：1994-05-01 00:00:00

abstract：:Common variable immunodeficiency (CVID, OMIM 240500) and selective immunoglobulin A deficiency (IgAD) are the most frequent primary immunodeficiencies in humans. Of the cases with CVID/IgAD, 20%-25% are familial, but the only previous claims of linkage or association are to the HLA region on chromosome 6p. We report t...

journal_title：Human genetics

authors： Braig DU,Schäffer AA,Glocker E,Salzer U,Warnatz K,Peter HH,Grimbacher B

更新日期：2003-04-01 00:00:00

abstract：:In the present study, the possible role of genetic polymorphism of three drug-metabolizing enzymes, debrisoquine/sparteine hydroxylase (CYP2D6), glutathione S-transferase mu (GSTM1), and N-acetyltransferase (NAT2), as a putative genetic component of human longevity, was explored. A total of 817 DNA samples from a cent...

journal_title：Human genetics

authors： Muiras ML,Verasdonck P,Cottet F,Schächter F

更新日期：1998-05-01 00:00:00

abstract：:Congenital heart disease (CHD) affects over 40% of Down syndrome (DS) patients. The region proposed to contain the gene(s) for DS CHD has been restricted to 21q22.2-22.3, from D21S55 to MX1. The identification and functional characterization of the genes mapping to this region is a necessary step to understand the pat...

journal_title：Human genetics

authors： Egeo A,Mazzocco M,Sotgia F,Arrigo P,Oliva R,Bergonòn S,Nizetic D,Rasore-Quartino A,Scartezzini P

更新日期：1998-03-01 00:00:00

abstract：:We describe a genetic polymorphism of cytosol polypeptide with mol. wt. of 38,000 detected in phytohemagglutinin (PHA)-stimulated peripheral blood lymphocytes by two-dimensional gel electrophoresis. Three different electrophoretic phenotypes (type 1-1, 2-1, 2-2) of the polypeptide have been identified in a Japanese po...

journal_title：Human genetics

authors： Kondo I,Yamamoto T,Yamakawa K,Shibasaki M,Hamaguchi H

更新日期：1985-01-01 00:00:00

abstract：:Leprosy is caused by infection with Mycobacterium leprae and is classified clinically into paucibacillary (PB) or multibacillary (MB) subtypes based on the number of skin lesions and the bacillary index detected in skin smears. We previously identified a major PB susceptibility locus on chromosome region 10p13 in Viet...

journal_title：Human genetics

authors： Grant AV,Cobat A,Van Thuc N,Orlova M,Huong NT,Gaschignard J,Alter A,Ba NN,Thai VH,Abel L,Alcaïs A,Schurr E

更新日期：2014-07-01 00:00:00

abstract：:Human and chimpanzee karyotypes differ by virtue of nine pericentric inversions that serve to distinguish human chromosomes 1, 4, 5, 9, 12, 15, 16, 17, and 18 from their chimpanzee orthologues. In this study, we have analysed the breakpoints of the pericentric inversion characteristic of chimpanzee chromosome 4, the h...

journal_title：Human genetics

authors： Szamalek JM,Goidts V,Chuzhanova N,Hameister H,Cooper DN,Kehrer-Sawatzki H

更新日期：2005-07-01 00:00:00

abstract：:Migraine is a common disabling neurovascular brain disorder typically characterised by attacks of severe headache and associated with autonomic and neurological symptoms. Migraine is caused by an interplay of genetic and environmental factors. Genome-wide association studies (GWAS) have identified over a dozen genetic...

journal_title：Human genetics

authors： Eising E,Huisman SMH,Mahfouz A,Vijfhuizen LS,Anttila V,Winsvold BS,Kurth T,Ikram MA,Freilinger T,Kaprio J,Boomsma DI,van Duijn CM,Järvelin MR,Zwart JA,Quaye L,Strachan DP,Kubisch C,Dichgans M,Davey Smith G,Stefansso

更新日期：2016-04-01 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：:A modified technique has been developed for the visualization of the chromosomes in human sperm. The cytogenetic analysis of 129 G-banded human sperm metaphases of 6 normal donors showed an incidence of structural and numerical chromosome abnormalities of 7.8%. Two out of 129 spermatozoa were aneuploid (1.6%). The fre...

journal_title：Human genetics

authors： Jenderny J,Röhrborn G

更新日期：1987-08-01 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：:The identification of a novel CYP2D6 allele from a healthy Caucasian poor metabolizer was achieved by using a previously described polymerase chain reaction/single-strand conformation polymorphism strategy. Among the four point mutations that this allele carries, a missense mutation in exon 1 (212 G-->A or D6-H) seems...

journal_title：Human genetics

authors： Marez D,Legrand M,Sabbagh N,Lo-Guidice JM,Boone P,Broly F

更新日期：1996-05-01 00:00:00

abstract：:The identification of genomic rearrangements involving more than 0.5 kb of the BRCA1 gene has confirmed a more complex mutation spectrum than was initially appreciated. Genomic rearrangements in BRCA1 represent 15% of all mutations in a group of French and American breast and ovarian cancer families and 36% of all mut...

journal_title：Human genetics

authors： Rohlfs EM,Chung CH,Yang Q,Skrzynia C,Grody WW,Graham ML,Silverman LM

更新日期：2000-10-01 00:00:00

abstract：:Genome-wide association studies (GWAS) have identified at least 133 ulcerative colitis (UC) associated loci. The role of genetic factors in clinical practice is not clearly defined. The relevance of genetic variants to disease pathogenesis is still uncertain because of not characterized gene-gene and gene-environment ...

journal_title：Human genetics

authors： Wang MH,Fiocchi C,Zhu X,Ripke S,Kamboh MI,Rebert N,Duerr RH,Achkar JP

更新日期：2014-05-01 00:00:00

abstract：:The vasopressin V2 receptor (V2R) and the aquaporin-2 genes of two unrelated male patients with congenital nephrogenic diabetes insipidus were analyzed. The V2R gene of the patient of family 1 had the wild-type sequence. Consequently, the coding region of the aquaporin-2 gene including the exon-intron junctions was se...

journal_title：Human genetics

authors： Oksche A,Möller A,Dickson J,Rosendahl W,Rascher W,Bichet DG,Rosenthal W

更新日期：1996-11-01 00:00:00