Mitochondrial dysfunction and neuromuscular disease
2001-01-01 | PMID 11180201
Publication catalog
Biomedical publications with connected research
Browse 1,060,000 source-attributed publications. Article pages show available bibliographic context, indexed concepts and SPECTER2 related publications where supported by the source and graph. Missing metadata is not invented, and source retraction notices remain visible.
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Publications
Page 10045 of 10600
Chromosome 22q11 deletion syndrome: Update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications
2000-01-01 | PMID 11180220
Embryo implantation after biopsy of one or two cells from cleavage-stage embryos with a view to preimplantation genetic diagnosis
2000-12-01 | PMID 11180226
Highly abnormal cleavage divisions in preimplantation embryos from translocation carriers
2000-12-01 | PMID 11180227
Attitudes towards reproductive issues and carrier testing among adult patients and parents of children with cystic fibrosis (CF)
2001-01-01 | PMID 11180232
Estimates for the sensitivity and false-positive rates for second trimester serum screening for Down syndrome and trisomy 18 with adjustment for cross-identification and double-positive results
2001-01-01 | PMID 11180240
Targeting of PCNA to sites of DNA replication in the mammalian cell nucleus*
2001-01-31 | PMID 11180397
Cancer risks to spouses and offspring in the family-cancer database
2001-01-01 | PMID 11180450
Segregation analysis of cancer in families of glioma patients
2001-01-01 | PMID 11180451
A new mutation in the BRCA1 gene (g.5196-5201del6, 5195-5202ins12), a 6 bp deletion replaced by the duplication of a 12 bp adjacent upstream intronic sequence.
Human mutation | 2001-02-01 | PMID 11180603
Hardouin A, Baumann J, Roussel G and 3 more
Genes: BRCA1
Identification of two novel polymorphisms (g.903C>T and g.1544C>T) in the PAX2 gene.
Human mutation | 2001-02-01 | PMID 11180607
Gelb A, Manligas G, Gharaybeh S and 1 more
Genes: PAX2
A novel polymorphism (471C-->T) in alpha-1-antitrypsin in a patient with asthma.
Human mutation | 2001-02-01 | PMID 11180608
Pillay V, Halsall D J, Gaillard C and 2 more
Three novel mutations (P760L, L1305P, Q1351Stop) causing Wilson disease.
Human mutation | 2001-02-01 | PMID 11180609
Genschel J, Czlonkowska A, Sommer G and 4 more
Characterization of a new variant of alpha(1)-antitrypsin E(Johannesburg) (H15N) in association with asthma.
Human mutation | 2001-02-01 | PMID 11180610
Mahadeva R, Gaillard M, Pillay V and 2 more
A novel intronic polymorphism (intron 2 +130 (CT)n) in the human homeobox gene HOXB3.
Human mutation | 2001-02-01 | PMID 11180611
Copeland-Yates S, Michaelis R
Genes: HOXB3
Polymorphism (-173G>A) in promoter of human epithelial sodium channel gamma subunit gene (SCNN1G) and association analysis in essential hypertension.
Human mutation | 2001-02-01 | PMID 11180614
Morris B, Benjafield A, Ishikawa K and 1 more
A 651-665delinsTT mutation in EXT1 causes hereditary multiple exostoses.
Human mutation | 2001-02-01 | PMID 11180615
Shi Y R, Wu J Y, Tsai F J and 2 more
Genes: EXT1
ASW: a gene with conserved avian W-linkage and female specific expression in chick embryonic gonad
2000-04-01 | PMID 11180828
Understanding the Bacterial Flora of the Female Genital Tract
2001-02-15 | PMID 11181139
Molecular Epidemiology of Human Astrovirus Diarrhea among Children from a Periurban Community of Mexico City
2001-03-01 | PMID 11181143
<i>Pneumocystis carinii</i>Cytochrome b Mutations Are Associated with Atovaquone Exposure in Patients with AIDS
2001-03-01 | PMID 11181161
Activities of Linezolid against Rapidly Growing Mycobacteria
2001-03-01 | PMID 11181357
Amino Acid Repetitions in the Dihydropteroate Synthase of Streptococcus pneumoniae Lead to Sulfonamide Resistance with Limited Effects on Substrate K m
2001-03-01 | PMID 11181365
Receptor Activator of Nuclear Factor-κB Ligand Activates Nuclear Factor-κB in Osteoclast Precursors*
2001-03-01 | PMID 11181547
Human homologs of the Xenopus oocyte cortical granule lectin XL35
2001-01-01 | PMID 11181563
A novel missense mutation in lysosomal sulfamidase is the basis of MPS III A in a spontaneous mouse mutant
2001-01-01 | PMID 11181566
A Ser365->Cys mutation of fibroblast growth factor receptor 3 in mouse downregulates Ihh/PTHrP signals and causes severe achondroplasia
2001-03-01 | PMID 11181569
Fgd1, the Cdc42 guanine nucleotide exchange factor responsible for faciogenital dysplasia, is localized to the subcortical actin cytoskeleton and Golgi membrane
2001-03-01 | PMID 11181572
Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy
2001-03-01 | PMID 11181573
Extra-chromosomal telomeric DNA in cells from Atm-/- mice and patients with ataxia-telangiectasia
2001-03-01 | PMID 11181576
Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)
2001-03-01 | PMID 11181578
Group A Streptococcus: allelic variation, population genetics, and host-pathogen interactions.
The Journal of clinical investigation | 2001-02-01 | PMID 11181637
Reid S D, Hoe N P, Smoot L M and 1 more
Preferential suppression of CXCR4-specific strains of HIV-1 by antiviral therapy
2001-02-15 | PMID 11181642
Microsatellite Instability Is an Independent Indicator of Recurrence in Sporadic Stage I-II Endometrial Adenocarcinoma
2001-02-15 | PMID 11181663
Role of Promyelocytic Leukemia (Pml) Protein in Tumor Suppression
2001-02-19 | PMID 11181703
Human Papillomavirus Type 16 Variants and Risk of Cervical Cancer
2001-02-21 | PMID 11181779
Synuclein‐1 is selectively up‐regulated in response to nerve growth factor treatment in PC12 cells
2001-02-01 | PMID 11181836
In Vitro Substrate Identification Studies for P-glycoprotein-Mediated Transport: Species Difference and Predictability of in Vivo Results
2001-03-01 | PMID 11181899
Genetic Assembly of the Heart: Implications for Congenital Heart Disease
2001-03-01 | PMID 11181963
Cellular defenses against unfolded proteins: a cell biologist thinks about neurodegenerative diseases.
Neuron | 2001-01-01 | PMID 11182078
Sherman M Y, Goldberg A L
Expression of type III sodium-dependent phosphate transporters/retroviral receptors mRNAs during osteoblast differentiation
2001-02-01 | PMID 11182373
Second to fourth digit ratio and male ability in sport: implications for sexual selection in humans
2001-01-01 | PMID 11182575
Clonal expansion of bacterial pathogens across the world.
Journal of travel medicine | 2000-01-01 | PMID 11182607
Koornhof H J, Keddy K, McGee L
[Methods for the preclinical screening of new anticancer agents].
Bulletin du cancer | 2001-01-01 | PMID 11182655
Debussche L
[New pharmacology techniques and methods in oncology].
Bulletin du cancer | 2001-01-01 | PMID 11182657
Guichard S, Canal P
The triphasic nature of Leydig cell development in humans, and comments on nomenclature
2001-02-01 | PMID 11182757
Prevalence of Gs alpha mutations in Korean patients with pituitary adenomas
2001-02-01 | PMID 11182759
Induction of Radioresistance by a Nitric Oxide-Mediated Bystander Effect
2001-03-01 | PMID 11182788
Recent Advances in Genetics, Diagnosis, Localization, and Treatment of Pheochromocytoma
2001-02-20 | PMID 11182843
Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations
2000-09-01 | PMID 11182930
Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts
2000-09-01 | PMID 11182931
Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene.
Journal of medical genetics | 2000-09-01 | PMID 11182932
Iolascon A, Meloni A, Coppola B and 1 more
Breast hypoplasia and disproportionate short stature in the ear, patella, short stature syndrome: expansion of the phenotype?
Journal of medical genetics | 2000-09-01 | PMID 11182936
Terhal P A, Ausems M G, Van Bever Y and 3 more
Signal transduction. Are there close encounters between signaling pathways?
Science (New York, N.Y.) | 2000-10-06 | PMID 11183153
Noselli S, Perrimon N
The mutation spectrum in Holt-Oram syndrome
2000-10-01 | PMID 11183182
Analysis of the human tumour necrosis factor-alpha (TNFα) gene promoter polymorphisms in children with bone cancer
2000-10-01 | PMID 11183184
Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS)
2000-10-01 | PMID 11183188
Mosaicism for a dup(12)(q22q13) in a patient with hypomelanosis of Ito and asymmetry.
Journal of medical genetics | 2000-10-01 | PMID 11183189
Schmidt H, Uhrig S, Lederer G and 3 more
Heteroclite Subgenomic RNAs Are Produced in Porcine Reproductive and Respiratory Syndrome Virus Infection
2000-09-01 | PMID 11183205
Congenital myasthenic syndromes: gene mutations.
Neuromuscular disorders : NMD | 2000-10-01 | PMID 11183555
Ohno K, Engel A G
Mitochondrial encephalomyopathies: gene mutation.
Neuromuscular disorders : NMD | 2000-10-01 | PMID 11183557
Servidei S
[Case No. 36: E-cadherin (uvomorulin or CDH1].
Bulletin du cancer | 2000-09-01 | PMID 11184446
Soussi T
Genes: CDH1
[Case No. 37: hdm2 (mdm2 in mice)].
Bulletin du cancer | 2000-09-01 | PMID 11184447
Soussi T
Cancer, genes, and the environment.
The New England journal of medicine | 2000-11-16 | PMID 11184463
Shapiro B L
Cancer, genes, and the environment.
The New England journal of medicine | 2000-11-16 | PMID 11184464
Spector N
Cancer, genes, and the environment.
The New England journal of medicine | 2000-11-16 | PMID 11184466
Begg C B
Will genetics revolutionize medicine?
The New England journal of medicine | 2000-11-16 | PMID 11184469
Ference B A, Chauhan M S, Izumo S
Will genetics revolutionize medicine?
The New England journal of medicine | 2000-11-16 | PMID 11184470
Khoury M J
Novel compound heterozygous mutations in the cytochrome P4501B1 gene (CYP1B1) in a Japanese patient with primary congenital glaucoma.
Ophthalmic genetics | 2000-09-01 | PMID 11184479
Ohtake Y, Kubota R, Tanino T and 2 more
[Record no. 39: p53 (TP53)].
Bulletin du cancer | 2000-10-01 | PMID 11185522
Soussi T
Mitochondrial encephalomyopathies: gene mutation.
Neuromuscular disorders : NMD | 2000-12-01 | PMID 11185548
The challenges of genetic advances.
Healthplan | 2000-01-01 | PMID 11185806
Weiland A J
[Human dispersal across the earth disclosed by ancient DNA analysis].
Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme | 2000-12-01 | PMID 11185910
Ueda S
[The origin and dispersal of modern humans inferred from mitochondrial DNA].
Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme | 2000-12-01 | PMID 11185911
Hourai S
Polymorphisms within glutathione S-transferase genes and initial response to glucocorticoids in childhood acute lymphoblastic leukaemia
2000-11-01 | PMID 11186134
CYP3A4 promoter variant in Saudi, Ghanaian and Scottish Caucasian populations.
Pharmacogenetics | 2000-11-01 | PMID 11186137
Tayeb M T, Clark C, Ameyaw M M and 6 more
The possession of the CYP2C9*3 allele is associated with low dose requirement of acenocoumarol.
Pharmacogenetics | 2000-11-01 | PMID 11186138
Thijssen H H, Verkooijen I W, Frank H L
A simple approach to the characterization of three common Indian beta-thalassemia mutations by artificially created restriction sites.
Hemoglobin | 2000-11-01 | PMID 11186261
Pawar A R, Lu C Y, Besmond C and 4 more
Identification of a novel beta0-thalassemia mutation, codons 80/81 (-C), in an Iranian family.
Hemoglobin | 2000-11-01 | PMID 11186262
Feleki X, Najmabadi H, Karimi-Nejad R and 2 more
Two novel beta-thalassemia alleles in the Chinese: the IVS-II-2 (-T) and nucleotide +8 (C-->T) beta-globin gene mutations.
Hemoglobin | 2000-11-01 | PMID 11186264
Ma S K, Ha S Y, Chan A Y and 3 more
Hb Watford [beta1(NA1)Val-->Gly]: a new, clinically silent hemoglobin variant in linkage with a new neutral mutation.
Hemoglobin | 2000-11-01 | PMID 11186267
Fisher C, Hanslip J, Green B N and 3 more
Homozygous Hb Sallanches [alpha104(G11)Cys-->Tyr] in a Pakistani child with Hb H disease.
Hemoglobin | 2000-11-01 | PMID 11186268
Waye J S, Walker L, Chui D H and 2 more
[Genetics of microbial pathogenicity].
Vestnik Rossiiskoi akademii meditsinskikh nauk | 2000-01-01 | PMID 11186286
Totolian A A
Sanger Will Sequence Zebrafish Genome
2000-12-01 | PMID 11186384
Misoprostol embryotoxicity: Clinical evaluation of fifteen patients with arthrogryposis
2000-01-01 | PMID 11186880
Head circumference is an independent clinical finding associated with autism
2000-01-01 | PMID 11186888
Germline and somatic mosaicism in achondroplasia.
Journal of medical genetics | 2000-12-01 | PMID 11186939
Henderson S, Sillence D, Loughlin J and 2 more
Cardiovascular phenotype characterization in mice by high resolution magnetic resonance imaging.
Magma (New York, N.Y.) | 2000-11-01 | PMID 11186973
Wiesmann F, Ruff J, Dienesch C and 4 more
Uncertainty of response to ionizing radiation due to genotype: potential role for variation in DNA repair genes.
Radiation research | 2000-12-01 | PMID 11187011
Mohrenweiser H W, Jones I M
Cancer predisposition, radiosensitivity and the risk of radiation-induced cancers: biological aspects and computational modeling.
Radiation research | 2000-12-01 | PMID 11187012
Sankaranarayanan K
Predisposition, susceptibility and DNA repair in radiation-induced skin cancer.
Radiation research | 2000-12-01 | PMID 11187013
Kraemer K H
Hemochromatosis heterozygotes may constitute a radiation-sensitive subpopulation.
Radiation research | 2000-12-01 | PMID 11187014
Stevens R G
Using a biologically motivated cancer model to understand dose and temporal radiation effects.
Radiation research | 2000-12-01 | PMID 11187017
Leenhouts H P, Brugmans M J
Dose-rate effects and radiation protection.
Radiation research | 2000-12-01 | PMID 11187022
Fry R J
Protraction effects in radiation studies: epidemiology.
Radiation research | 2000-12-01 | PMID 11187024
Ron E
Major cancer susceptibility genes and radiation: what do we know?
Radiation research | 2000-12-01 | PMID 11187026
Tucker M
Drug researchers take on 'superbugs'.
Provider (Washington, D.C.) | 2000-09-01 | PMID 11187272
Gilbert N H
[Maintenance mechanism of mitochondrial genomes and diseases].
Fukuoka igaku zasshi = Hukuoka acta medica | 2000-11-01 | PMID 11187719
Kang D
[Future aspects and possibility in study of small fishes(discussion)].
Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme | 2000-12-01 | PMID 11187767
Okamoto H, Naruse K, Hori H and 1 more
[Maternal mRNA localization in zebrafish].
Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme | 2000-12-01 | PMID 11187769
Inoue K