Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35.
Human molecular genetics | 1996-05-01 | PMID 8733123
van Deutekom J C, Lemmers R J, Grewal P K and 8 more
Genes: FRG1
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.
Semantic proximity supports literature exploration. It does not establish scientific or clinical evidence.
Publications
Page 726 of 10600
Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2).
Human molecular genetics | 1996-05-01 | PMID 8733134
Burwinkel B, Shin Y S, Bakker H D and 4 more
Genetic mapping of the human homologue (T) of mouse T(Brachyury) and a search for allele association between human T and spina bifida.
Human molecular genetics | 1996-05-01 | PMID 8733136
Morrison K, Papapetrou C, Attwood J and 9 more
Genes: TCP1
Confirmation of three susceptibility genes to insulin-dependent diabetes mellitus: IDDM4, IDDM5 and IDDM8.
Human molecular genetics | 1996-05-01 | PMID 8733139
Luo D F, Buzzetti R, Rotter J I and 7 more
Linkage of polymorphic congenital cataract to the gamma-crystallin gene locus on human chromosome 2q33-35.
Human molecular genetics | 1996-05-01 | PMID 8733140
Rogaev E I, Rogaeva E A, Korovaitseva G I and 7 more
Genes: TNP1
Organization of the origins of replication of the chromosomes of Mycobacterium smegmatis, Mycobacterium leprae and Mycobacterium tuberculosis and isolation of a functional origin from M. smegmatis.
Molecular microbiology | 1996-04-01 | PMID 8733228
Salazar L, Fsihi H, de Rossi E and 4 more
A cluster of fourteen genes from enteropathogenic Escherichia coli is sufficient for the biogenesis of a type IV pilus.
Molecular microbiology | 1996-04-01 | PMID 8733231
Stone K D, Zhang H Z, Carlson L K and 1 more
Bacillus subtilis operon under the dual control of the general stress transcription factor sigma B and the sporulation transcription factor sigma H.
Molecular microbiology | 1996-04-01 | PMID 8733232
Varón D, Brody M S, Price C W
Tandem genes encode cell-surface polypeptides SspA and SspB which mediate adhesion of the oral bacterium Streptococcus gordonii to human and bacterial receptors.
Molecular microbiology | 1996-04-01 | PMID 8733238
Demuth D R, Duan Y, Brooks W and 3 more
Genes: SAG
Three different mutations of presenilin 1 gene in early-onset Alzheimer's disease families.
Neuroscience letters | 1996-04-26 | PMID 8733303
Kamino K, Sato S, Sakaki Y and 9 more
The effect of tetraethylammonium on intracellular calcium concentration in Alzheimer's disease fibroblasts with APP, S182 and E5-1 missense mutations.
Neuroscience letters | 1996-04-26 | PMID 8733308
Failli P, Tesco G, Ruocco C and 4 more
Genes: APP
[Genetic predisposition to develop insulin-dependent diabetes mellitus. A population study in Santiago and Temuco, Chile].
Revista medica de Chile | 1995-10-01 | PMID 8733311
Pérez F, Carrasco E, Calvillán M and 5 more
First trimester DNA-based exclusion of recessive dystrophic epidermolysis bullosa from chorionic villus sampling.
The British journal of dermatology | 1996-04-01 | PMID 8733382
McGrath J A, Dunnill M G, Christiano A M and 6 more
A maximum-likelihood estimator of the genetic identity between polyploid species.
Journal of theoretical biology | 1996-03-07 | PMID 8733430
Tomiuk J, Loeschcke V
HLA class I associations of ankylosing spondylitis in the white population in the United Kingdom.
Annals of the rheumatic diseases | 1996-04-01 | PMID 8733445
Brown M A, Pile K D, Kennedy L G and 5 more
Tumour progression: random mutations or an integrated survival response to cellular stress conserved from unicellular organisms?
Journal of theoretical biology | 1996-02-21 | PMID 8733476
Israel L
Expansion of mutant stem cell populations in the human colon.
Journal of theoretical biology | 1996-02-21 | PMID 8733477
Bjerknes M
Genes: APC
Effects of physical activity and age on mitochondrial function.
QJM : monthly journal of the Association of Physicians | 1996-04-01 | PMID 8733511
Brierley E J, Johnson M A, James O F and 1 more
Hepatitis C virus infection in the elderly.
QJM : monthly journal of the Association of Physicians | 1996-04-01 | PMID 8733516
Brind A M, Watson J P, James O F and 1 more
Treatment of patients with myelodysplastic syndromes with allogeneic bone marrow transplantation from genotypically HLA-identical sibling and alternative donors.
Bone marrow transplantation | 1996-05-01 | PMID 8733692
Demuynck H, Verhoef G E, Zachee P and 6 more
External quality assurance for CD34 cell enumeration--results of a preliminary national trial. Royal Microscopical Society Clinical Flow Cytometry Group QA Schemes.
Bone marrow transplantation | 1996-05-01 | PMID 8733708
Lowdell M W, Bainbridge D R
Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease.
Neuroreport | 1996-02-29 | PMID 8733749
Hutton M, Busfield F, Wragg M and 22 more
Increased startle responses in mice carrying mutations of glycine receptor subunit genes.
Neuroreport | 1996-02-29 | PMID 8733750
Koch M, Kling C, Becker C M
Genes: GLRA1
Resistance to activated protein C: a common inherited cause of venous thrombosis.
Annals of vascular surgery | 1996-03-01 | PMID 8733870
Gillespie D L, Carrington L R, Griffin J H and 1 more
Effects of short-chain acyl-CoA dehydrogenase deficiency on development expression of metabolic enzyme genes in the mouse.
Biochemical and molecular medicine | 1996-04-01 | PMID 8733888
Hinsdale M E, Hamm D A, Wood P A
Genes: OTC
Genotype D399N/R463C in a patient with type 3 Gaucher disease previously assigned genotype N370S/R463C.
Biochemical and molecular medicine | 1996-04-01 | PMID 8733893
Tayebi N, Herman J, Ginns E I and 1 more
[Chronic progressive external ophthalmoplegia with mitochondrial anomalies. Clinical, histological, biochemical and genetic analysis (9 cases)].
La Revue de medecine interne | 1996-01-01 | PMID 8734141
Drouet A
Mechanisms and management of congenital and acquired long QT syndromes.
Archives des maladies du coeur et des vaisseaux | 1996-02-01 | PMID 8734164
Lazzara R
[Rapid demonstration of mutations previously identified in parents at risk of patients with autosomic dominant retinitis pigmentosa].
Journal francais d'ophtalmologie | 1996-01-01 | PMID 8734219
Souied E, Rozet J M, Gerber S and 2 more
Activating mutations of the TSH receptor gene cause thyroid diseases.
Annales d'endocrinologie | 1996-01-01 | PMID 8734289
Vassart G, Van Sande J, Parma J and 4 more
Pathogenic mechanisms in familial amyotrophic lateral sclerosis due to mutation of Cu, Zn superoxide dismutase.
Pathologie-biologie | 1996-01-01 | PMID 8734301
Gurney M E, Cutting F B, Zhai P and 2 more
Genes: SOD1
[Aspergillus fumigatus: from saprophytism to virulence. Phenotypic and genotypic biodiversity].
Annales pharmaceutiques francaises | 1996-01-01 | PMID 8734331
Grillot R, Mondon P, Brenier M P and 1 more
Biochemical evidence of haplodiploidy in the whitefly Bemisia tabaci.
Biochemical genetics | 1996-04-01 | PMID 8734410
Byrne F J, Devonshire A L
Arylsulfatase A: relationship of genotype to variant electrophoretic properties.
Biochemical genetics | 1996-04-01 | PMID 8734414
Park D S, Poretz R D, Ricketts M H and 1 more
Classification and differential diagnosis of clear and basal cell tumors of the salivary glands.
Seminars in diagnostic pathology | 1996-05-01 | PMID 8734415
Seifert G
Proteolipid/DM-20 proteins bearing the paralytic tremor mutation in peripheral nerves and transfected Cos-7 cells.
Neurochemical research | 1996-04-01 | PMID 8734435
Tosic M, Gow A, Dolivo M and 3 more
Gonadotrophin receptors.
Bailliere's clinical endocrinology and metabolism | 1996-01-01 | PMID 8734448
Clayton R N
The TSH receptor and thyroid diseases.
Bailliere's clinical endocrinology and metabolism | 1996-01-01 | PMID 8734449
Paschke R, Van Sande J, Parma J and 1 more
The ACTH receptor.
Bailliere's clinical endocrinology and metabolism | 1996-01-01 | PMID 8734450
Clark A J, Cammas F M
Mutant insulin receptors in syndromes of insulin resistance.
Bailliere's clinical endocrinology and metabolism | 1996-01-01 | PMID 8734453
Krook A, O'Rahilly S
Serpentine receptors for parathyroid hormone, calcitonin and extracellular calcium ions.
Bailliere's clinical endocrinology and metabolism | 1996-01-01 | PMID 8734454
Brown E M, Segre G V, Goldring S R
Genes: PTH
Endocrine disorders associated with mutations in guanine nucleotide binding proteins.
Bailliere's clinical endocrinology and metabolism | 1996-01-01 | PMID 8734456
Milligan G
Compound mutants for retinoic acid receptor (RAR) beta and RAR alpha 1 reveal developmental functions for multiple RAR beta isoforms.
Mechanisms of development | 1996-03-01 | PMID 8734497
Luo J, Sucov H M, Bader J A and 2 more
In vitro and in vivo phenotypes resulting from deletion of the high temperature requirement A (htrA) gene from the bovine vaccine strain Brucella abortus S19.
Veterinary microbiology | 1996-04-01 | PMID 8734637
Robertson G T, Elzer P H, Roop R M
Sequence variation of the gC gene among pseudorabies virus strains.
Veterinary microbiology | 1996-04-01 | PMID 8734644
Ishikawa K, Tsutsui M, Taguchi K and 2 more
Familial hemiplegic migraine: a clinical comparison of families linked and unlinked to chromosome 19.DMG RG.
Cephalalgia : an international journal of headache | 1996-05-01 | PMID 8734765
Terwindt G M, Ophoff R A, Haan J and 2 more
Molecular prenatal diagnosis of glycogen storage disease type Ia.
Prenatal diagnosis | 1996-04-01 | PMID 8734807
Qu Y, Abdenur J E, Eng C M and 1 more
Cystic fibrosis: frequency of delta f508 and g542x mutations in Cordoba, Argentina.
Medicina | 1996-01-01 | PMID 8734924
Saleh M C, Botelli A, Melano de Botelli M and 2 more
Structural determinants of channel conductance in fetal and adult rat muscle acetylcholine receptors.
The Journal of physiology | 1996-05-01 | PMID 8734989
Herlitze S, Villarroel A, Witzemann V and 2 more
An immunohistochemical investigation of the expression of parathyroid hormone receptors in rat cementoblasts.
Archives of oral biology | 1996-03-01 | PMID 8735016
Tenorio D, Hughes F J
Genes: PTH
Genetics of age-related hearing loss in mice. III. Susceptibility of inbred and F1 hybrid strains to noise-induced hearing loss.
Hearing research | 1996-04-01 | PMID 8735078
Erway L C, Shiau Y W, Davis R R and 1 more
Genes: ABR
Molecular typing of Salmonella typhi strains from Dhaka (Bangladesh) and development of DNA probes identifying plasmid-encoded multidrug-resistant isolates.
Journal of clinical microbiology | 1996-06-01 | PMID 8735083
Hermans P W, Saha S K, van Leeuwen W J and 3 more
Molecular epidemiology of impetiginous group A streptococcal infections in aboriginal communities of northern Australia.
Journal of clinical microbiology | 1996-06-01 | PMID 8735096
Gardiner D L, Sriprakash K S
Genes: MNT
DNA fingerprinting of Vibrio cholerae strains with a novel insertion sequence element: a tool to identify epidemic strains.
Journal of clinical microbiology | 1996-06-01 | PMID 8735097
Bik E M, Gouw R D, Mooi F R
Longitudinal study of molecular epidemiology of small round-structured viruses in a pediatric population.
Journal of clinical microbiology | 1996-06-01 | PMID 8735105
Levett P N, Gu M, Luan B and 4 more
Comparison of outbreak and nonoutbreak Acinetobacter baumannii strains by genotypic and phenotypic methods.
Journal of clinical microbiology | 1996-06-01 | PMID 8735109
Dijkshoorn L, Aucken H, Gerner-Smidt P and 5 more
Genetic variation in Australian spotted fever group rickettsiae.
Journal of clinical microbiology | 1996-06-01 | PMID 8735110
Baird R W, Stenos J, Stewart R and 4 more
The porA alleles are identical in subgroup III serogroup A Neisseria meningitidis strains isolated in China in the 1960s and 1980s.
Journal of clinical microbiology | 1996-06-01 | PMID 8735116
Malorny B, Maiden M C, Achtman M
Classification of rotavirus into G and P types with specimens from children with acute diarrhea in New Delhi, India.
Journal of clinical microbiology | 1996-06-01 | PMID 8735130
Husain M, Seth P, Dar L and 1 more
Activated protein C resistance phenotype and genotype in patients with primary antiphospholipid syndrome.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis | 1996-04-01 | PMID 8735142
Ruiz-Argüelles G J, Garcés-Eisele J, Alarcón-Segovia D and 1 more
Genes: APC
Parsing the genetic and nongenetic variance in children's depressive behavior.
Journal of affective disorders | 1996-04-26 | PMID 8735156
Murray K T, Sines J O
Neurotrophin-4/5 selectively protects nigral calbindin-containing neurons in rats with medial forebrain bundle transections.
Neuroscience | 1996-06-01 | PMID 8735219
Alexi T, Hefti F
Loss of heterozygosity in the VNTR region of intron 1 of P53 in two retinoblastoma cases.
Pediatric hematology and oncology | 2000-01-01 | PMID 8735341
Emre S, Sungur A, Bilgiç S and 3 more
Smoothing representation of fitness landscapes--the genotype-phenotype map of evolution.
Bio Systems | 1996-01-01 | PMID 8735388
Asselmeyer T, Ebeling W, Rosé H
Annotation: behavioural phenotypes: a window onto the biology of behaviour.
Journal of child psychology and psychiatry, and allied disciplines | 1996-05-01 | PMID 8735436
Flint J
Nonword repetition as a behavioural marker for inherited language impairment: evidence from a twin study.
Journal of child psychology and psychiatry, and allied disciplines | 1996-05-01 | PMID 8735439
Bishop D V, North T, Donlan C
The genetics of children's oral reading performance.
Journal of child psychology and psychiatry, and allied disciplines | 1996-05-01 | PMID 8735442
Reynolds C A, Hewitt J K, Erickson M T and 5 more
Muscle growth and muscle function: a molecular biological perspective.
Research in veterinary science | 1996-05-01 | PMID 8735506
Goldspink G
Debrisoquine 4-hydroxylation and sulphamethazine N-acetylation in patients with schizophrenia and major depression.
British journal of clinical pharmacology | 1996-05-01 | PMID 8735687
Hadasová E, Franke G, Zschiesche M and 3 more
Plasma factor VII levels are influenced by a polymorphism in the promoter region of the FVII gene.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis | 1996-03-01 | PMID 8735799
Sacchi E, Tagliabue L, Scoglio R and 4 more
The UK epidemic of BSE: slow virus or chronic pesticide-initiated modification of the prion protein? Part 1: Mechanisms for a chemically induced pathogenesis/transmissibility.
Medical hypotheses | 1996-05-01 | PMID 8735881
Purdey M
Regulation and function of the terminal gap gene huckebein in the Drosophila blastoderm.
The International journal of developmental biology | 1996-02-01 | PMID 8735925
Brönner G, Jäckle H
Large scale genetics in a small vertebrate, the zebrafish.
The International journal of developmental biology | 1996-02-01 | PMID 8735932
Haffter P, Nüsslein-Volhard C
Signals and signal-transduction systems in the control of development in Hydra and Hydractinia.
The International journal of developmental biology | 1996-02-01 | PMID 8735944
Hassel M, Leitz T, Müller W A
Targeted inactivation of myogenic factor genes reveals their role during mouse myogenesis: a review.
The International journal of developmental biology | 1996-02-01 | PMID 8735947
Arnold H H, Braun T
Pax and vertebrate development.
The International journal of developmental biology | 1996-02-01 | PMID 8735950
Wehr R, Gruss P
Longitudinal genotype analysis and quantification of hepatitis C virus in haemophilic patients receiving interferon-alpha therapy.
Journal of viral hepatitis | 1996-01-01 | PMID 8736240
Devereux H, Telfer P, Brown D and 4 more
Multiple basal cell carcinomas: no association with HLA-DRB, HLA-DQA1 or HLA-DQB1 in Swedish patients.
The British journal of dermatology | 1996-05-01 | PMID 8736330
Emtestam L, Wallberg P, Aldener A and 1 more
The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Pediatric neurology | 1996-04-01 | PMID 8736409
Pons R, Roig M, Riudor E and 8 more
Pharmacological implications of inward rectifier K+ channels regulation by cytoplasmic polyamines.
Pharmacological research | 1995-12-01 | PMID 8736484
Taglialatela M, Ficker E, Wible B and 1 more
Locating the unpaired cysteine of tissue-type plasminogen activator.
Protein engineering | 1996-03-01 | PMID 8736495
Sehl L C, Nguyen H V, Berleau L T and 3 more
Very short patch repair: reducing the cost of cytosine methylation.
Molecular microbiology | 1996-05-01 | PMID 8736526
Lieb M, Bhagwat A S
Essential roles of core starvation-stress response loci in carbon-starvation-inducible cross-resistance and hydrogen peroxide-inducible adaptive resistance to oxidative challenge in Salmonella typhimurium.
Molecular microbiology | 1996-05-01 | PMID 8736529
Seymour R L, Mishra P V, Khan M A and 1 more
Limited variation and maintenance of tight genetic linkage characterize heteroallelic pilE recombination following DNA transformation of Neisseria gonorrhoeae.
Molecular microbiology | 1996-05-01 | PMID 8736530
Hill S A
The Yersinia YpkA Ser/Thr kinase is translocated and subsequently targeted to the inner surface of the HeLa cell plasma membrane.
Molecular microbiology | 1996-05-01 | PMID 8736538
Håkansson S, Galyov E E, Rosqvist R and 1 more
Identification and characterization of FrzZ, a novel response regulator necessary for swarming and fruiting-body formation in Myxococcus xanthus.
Molecular microbiology | 1996-05-01 | PMID 8736543
Trudeau K G, Ward M J, Zusman D R
Aromatic interactions define the binding of the alphavirus spike to its nucleocapsid.
Structure (London, England : 1993) | 1996-05-15 | PMID 8736551
Skoging U, Vihinen M, Nilsson L and 1 more
In vitro and in vivo growth inhibition of murine melanoma K-1735 cell by a dominant negative mutant alpha subunit of the Gi2 protein.
Cellular signalling | 1996-03-01 | PMID 8736698
Hermouet S, Aznavoorian S, Spiegel A M
Evaluation of the importance of maternal history of diabetes and of mitochondrial variation in the development of NIDDM.
Diabetic medicine : a journal of the British Diabetic Association | 1996-05-01 | PMID 8737023
McCarthy M, Cassell P, Tran T and 7 more
Coeliac disease: frequent occurrence after clinical onset of insulin-dependent diabetes mellitus. Childhood Diabetes in Finland Study Group.
Diabetic medicine : a journal of the British Diabetic Association | 1996-05-01 | PMID 8737029
Saukkonen T, Savilahti E, Reijonen H and 3 more
Clinical and genetic variability in XX sex-reversed patients.
International journal of andrology | 1996-04-01 | PMID 8737037
Manieri C, Tagliabue M, Novi R F and 5 more
The deletion polymorphism of the angiotensin-converting enzyme gene is related to phenotypic differences in human arteries.
European heart journal | 1996-05-01 | PMID 8737111
Buikema H, Pinto Y M, Rooks G and 3 more
Genes: ACE
The Garrod Lecture. Evasion of antibiotic action by bacteria.
The Journal of antimicrobial chemotherapy | 1996-05-01 | PMID 8737136
Courvalin P
Mutations responsible for reduced susceptibility to 4-quinolones in clinical isolates of multi-resistant Salmonella typhi in India.
The Journal of antimicrobial chemotherapy | 1996-05-01 | PMID 8737139
Brown J C, Shanahan P M, Jesudason M V and 2 more
Characterization of gangliosides from Ehrlich ascites tumour cells and their variants.
Glycoconjugate journal | 1996-04-01 | PMID 8737236
Kishida E, Goldstein I J
Blood group glycosphingolipid expression in kidney of an individual with the rare blood group A1 Le(a-b+) p phenotype: absence of blood group structures based on the globoseries.
Glycoconjugate journal | 1996-04-01 | PMID 8737255
Lindström K, Jovall P A, Ghardashkani S and 2 more
Calcium homeostasis in photoreceptor cells of Drosophila mutants inaC and trp studied with the pupil mechanism.
Visual neuroscience | 2000-01-01 | PMID 8737276
Hofstee C A, Stavenga D G
CAG-repeat expansion in androgen receptor in Kennedy's disease is not a loss of function mutation.
Molecular and cellular endocrinology | 1996-03-25 | PMID 8737374
Neuschmid-Kaspar F, Gast A, Peterziel H and 6 more
Fingerprinting sequence variation in ribosomal DNA of parasites by DGGE.
Molecular and cellular probes | 1996-04-01 | PMID 8737393
Gasser R, Nansen P, Guldberg P
'Fingerprinting' of HLA-DQA by polymerase chain reaction and heteroduplex analysis.
Molecular and cellular probes | 1996-04-01 | PMID 8737396
Martinelli G, Trabetti E, Farabegoli P and 8 more