A girl with partial long-arm deletion of chromosome 11 and familial pericentric inversion of chromosome 9.

abstract：:During the last few years, much progress has been made in the treatment of lysosomal storage disorders. In the past, no specific therapy was available for the affected patients, and management consisted solely of supportive care and treatment of complications. Since enzyme replacement therapy has been successfully int...

journal_title：Human genetics

authors： Beck M

更新日期：2007-03-01 00:00:00

abstract：:Members of three generations of a single family were examined and found to have a balanced translocation t(11;16)(q13;p11). Cytogenetic investigation and investigation of a number of gene markers is consistent with the current view that the Hp-alpha locus is situated in the proximity of band 16q22. ...

journal_title：Human genetics

authors： Gerner-Smidt P,Friedrich U,Petersen GB,Tischfield JA

更新日期：1978-05-16 00:00:00

abstract：:Spermatozoa contain highly specialized structural features reflecting unique functions required for fertilization. Among them, the flagellum is a sperm-specific organelle required to generate the motility, which is essential to reach the egg. The flagellum integrity is, therefore, critical for normal sperm function an...

journal_title：Human genetics

authors： Touré A,Martinez G,Kherraf ZE,Cazin C,Beurois J,Arnoult C,Ray PF,Coutton C

更新日期：2020-01-16 00:00:00

abstract：:The objective of this study is to shed light on the phenotype and inheritance pattern of rare 13q33-q34 microdeletions. Appropriate cases were retrieved using local databases of two largest Israeli centers performing CMA analysis. In addition, literature search in PubMed, DECIPHER and ClinVar databases was performed. ...

journal_title：Human genetics

authors： Sagi-Dain L,Goldberg Y,Peleg A,Sukenik-Halevy R,Sofrin-Drucker E,Appelman Z,Josefsberg BYS,Ben-Shachar S,Vinkler C,Basel-Salmon L,Maya I

更新日期：2019-10-01 00:00:00

abstract：:beta-Thalassemia, a heterogeneous group of human anemias affecting the expression of beta-globin, is caused by a number of molecular defects. Restriction endonuclease mapping of ethnic populations has revealed many polymorphisms within and around the beta-like globin genes, combinations of which are assigned as haplot...

journal_title：Human genetics

authors： Beldjord C,Lapouméroulie C,Baird ML,Girot R,Adjrad L,Lenoir G,Benabadji M,Labie D

更新日期：1983-01-01 00:00:00

abstract：:We report clinical and molecular findings in 15 Japanese mosaic females with r(X) chromosomes, 45,X/46,X,r(X), confirmed by fluorescence in situ hybridization (FISH) analysis for DXZ1 and whole X chromosome painting. Cases 1-3, 5-7, and 11-13 had mental retardation (MR), the remaining cases being free from MR. FISH an...

journal_title：Human genetics

authors： Matsuo M,Muroya K,Adachi M,Tachibana K,Asakura Y,Nakagomi Y,Hanaki K,Yokoya S,Yoshizawa A,Igarashi Y,Hanew K,Matsuo N,Ogata T

更新日期：2000-11-01 00:00:00

abstract：: ...

journal_title：Human genetics

authors： Antoniou A,Anton-Culver H,Borowsky A,Broeders M,Brooks J,Chiarelli A,Chiquette J,Cuzick J,Delaloge S,Devilee P,Dorval M,Easton D,Eisen A,Eklund M,Eloy L,Esserman L,Garcia-Closas M,Goldgar D,Hall P,Knoppers BM,Kraf

更新日期：2019-03-01 00:00:00

abstract：:Lung inflammation is the major pathogenetic feature for both chronic obstructive pulmonary disease (COPD) and lung cancer. The nuclear factor-kappa B (NFκB) and its inhibitor (IκB) play crucial roles in inflammatory. Here, we tested the hypothesis that single nucleotide polymorphisms (SNPs) in NFκB/IκB confer consiste...

journal_title：Human genetics

authors： Huang D,Yang L,Liu Y,Zhou Y,Guo Y,Pan M,Wang Y,Tan Y,Zhong H,Hu M,Lu W,Ji W,Wang J,Ran P,Zhong N,Zhou Y,Lu J

更新日期：2013-04-01 00:00:00

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 have analysed the spread of X inactivation in an individual with an unbalanced 46,X,der(X)t(X;10)(q26.3;q23.3) karyotype. Despite being trisomic for the region 10q23.3-qter, both the proband and her aunt with the same karyotype presented only with secondary amenorrhoea and lacked any features normally associated wi...

journal_title：Human genetics

authors： Sharp A,Robinson DO,Jacobs P

更新日期：2001-09-01 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：:Quantitative red cell adenylate kinase (AK-1) assay has been used in 8 patients with partial duplication or deletion of chromosome 9 in an attempt to find the precise intrachromosomal location of the structural gene locus. All regions of chromosome 9 are represented in abnormal dosage in at least one patient. A 43% in...

journal_title：Human genetics

authors： Ferguson-Smith MA,Aitken DA,Turleau C,de Grouchy J

更新日期：1976-09-10 00:00:00

abstract：:In certain segments of human DNA, the methylation of deoxycytidine residues has been found to be highly specific and interindividually conserved. Imprinted DNA sequences in diploid primary cells show allele-specific differences in DNA methylation, usually with the active chromosomal regions being unmethylated and the ...

journal_title：Human genetics

authors： Kochanek S,Renz D,Doerfler W

更新日期：1994-08-01 00:00:00

abstract：:Reciprocal probing has been used to identify a cDNA clone (xh8H11) representing a gene preferentially expressed in striated muscle. The gene maps close to DXS7101 31.9 cM from the short arm telomere of the X-chromosome at Xp22.1. On searching expressed and genomic databases, 21 expressed sequence tags were found that ...

journal_title：Human genetics

authors： Patzak D,Zhuchenko O,Lee CC,Wehnert M

更新日期：1999-11-01 00:00:00

abstract：:We have screened fourteen kindreds with X-linked hypophosphataemic rickets with four microsatellite markers, viz AFM163yh2, DXS999 (AFM234yf12), DXS443 and DXS365, in order to refine the genetic map flanking the gene, and to define a close flanking interval for the construction of a yeast artificial chromosome (YAC) a...

journal_title：Human genetics

authors： Rowe PS,Goulding J,Read A,Lehrach H,Francis F,Hanauer A,Oudet C,Biancalana V,Kooh SW,Davies KE

更新日期：1994-03-01 00:00:00

abstract：:The red (RCP) and green (GCP) color pigment genes are located in Xq28, a chromosomal region implicated in many genetic disorders. The restriction fragment length polymorphism (RFLP) we describe here will be useful for linkage analysis in these disorders. ...

journal_title：Human genetics

authors： Vits L,Willems PJ

更新日期：1992-11-01 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：:Mouse mutants are a long-lasting, valuable tool to identify genes underlying eye diseases, because the absence of eyes, very small eyes and severely affected, cataractous eyes are easily to detect without major technical equipment. In mice, actually 145 genes or loci are known for anophthalmia, 269 for microphthalmia,...

journal_title：Human genetics

authors： Graw J

更新日期：2019-09-01 00:00:00

abstract：:A clone with 47 chromosomes was observed in the bone marrow of a patient with aplastic anemia and found to be trisomic for chromosome 6. The abnormal clone was not observed in the peripheral blood. ...

journal_title：Human genetics

authors： Geraedts JP,Haak HL

更新日期：1976-12-29 00:00:00

abstract：:Genome-wide association studies (GWAS) have had a tremendous success in the identification of common DNA sequence variants associated with complex human diseases and traits. However, because of their design, GWAS are largely inappropriate to characterize the role of rare and low-frequency DNA variants on human phenoty...

journal_title：Human genetics

authors： Low-Kam C,Rhainds D,Lo KS,Provost S,Mongrain I,Dubois A,Perreault S,Robinson JF,Hegele RA,Dubé MP,Tardif JC,Lettre G

更新日期：2016-11-01 00:00:00

abstract：:Linkage analysis of 15 families affected by X-linked agammaglobulinaemia (XLA) showed close linkage with three probes located towards the centre of the long arm of the X chromosome. No cross-overs were found using pXG12 (DXS94) lod 6.6 or S21 (DXS17) lod 4.4. One cross-over was found with 19.2 (DXS3). This confirms an...

journal_title：Human genetics

authors： Malcolm S,de Saint Basile G,Arveiler B,Lau YL,Szabo P,Fischer A,Griscelli C,Debre M,Mandel JL,Callard RE

更新日期：1987-10-01 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：:Genetic syndromes involving both brain and eye abnormalities are numerous and include syndromes such as Warburg micro syndrome, Kaufman oculocerebrofacial syndrome, Cerebro-oculo-facio-skeletal syndrome, Kahrizi syndrome and others. Using exome sequencing, we have been able to identify homozygous mutation p.(Tyr39Cys)...

journal_title：Human genetics

authors： Basel-Vanagaite L,Smirin-Yosef P,Essakow JL,Tzur S,Lagovsky I,Maya I,Pasmanik-Chor M,Yeheskel A,Konen O,Orenstein N,Weisz Hubshman M,Drasinover V,Magal N,Peretz Amit G,Zalzstein Y,Zeharia A,Shohat M,Straussberg R,Mont

更新日期：2015-06-01 00:00:00

abstract：:We have previously identified a mutation in the gene for methylmalonyl CoA mutase in a patient with the mut- phenotype of methylmalonic aciduria. This mutation (G717V) interferes with the binding of the deoxyadenosylcobalamin cofactor to the apoenzyme producing a mutant holoenzyme that is defective, but not completely...

journal_title：Human genetics

authors： Crane AM,Martin LS,Valle D,Ledley FD

更新日期：1992-05-01 00:00:00

abstract：:Molecular characterization of the alpha-thalassemia mutations present in nine HbH subjects from Cuba was achieved by digestion with Bam HI, Bgl II, and Apa I and hybridization with alpha- and zeta-specific probes. The results show that the molecular basis of the genetic defect is quite homogeneous, all the subjects ca...

journal_title：Human genetics

authors： Martinez G,Ferreira R,Hernandez A,Di Rienzo A,Felicetti L,Colombo B

更新日期：1986-04-01 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：:Usher syndrome is an autosomal recessive condition characterized by sensorineural hearing loss, variable vestibular dysfunction, and visual impairment due to retinitis pigmentosa (RP). The seven proteins that have been identified for Usher syndrome type 1 (USH1) and type 2 (USH2) may interact in a large protein comple...

journal_title：Human genetics

authors： Ebermann I,Scholl HP,Charbel Issa P,Becirovic E,Lamprecht J,Jurklies B,Millán JM,Aller E,Mitter D,Bolz H

更新日期：2007-04-01 00:00:00

abstract：:Unraveling the causes and pathomechanisms of progressive disorders is essential for the development of therapeutic strategies. Here, we identified heterozygous pathogenic missense variants of LMX1A in two families of Dutch origin with progressive nonsyndromic hearing impairment (HI), using whole exome sequencing. One ...

journal_title：Human genetics

authors： Wesdorp M,de Koning Gans PAM,Schraders M,Oostrik J,Huynen MA,Venselaar H,Beynon AJ,van Gaalen J,Piai V,Voermans N,van Rossum MM,Hartel BP,Lelieveld SH,Wiel L,Verbist B,Rotteveel LJ,van Dooren MF,Lichtner P,Kunst HPM,

更新日期：2018-05-01 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：: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