A common mutation site in the beta-galactosidase gene originates in Puerto Rico.
Pediatric neurology | 1996-01-01 | PMID 8652017
Chiu N C, Qian W H, Shanske A L and 2 more
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 704 of 10600
MERRF syndrome with overwhelming lactic acidosis.
Pediatric neurology | 1996-01-01 | PMID 8652018
Sanger T D, Jain K D
[Molecular analysis of the heterogeneity of hereditary monosymptomatic sensorineural hearing loss].
Laryngo- rhino- otologie | 1996-03-01 | PMID 8652029
Fiegert P, Lamprecht-Dinnesen A, Preisler-Adams S and 1 more
Impaired motor learning performance in cerebellar En-2 mutant mice.
Behavioral neuroscience | 1996-02-01 | PMID 8652061
Gerlai R, Millen K J, Herrup K and 3 more
Marden-Walker phenotype: a diagnostic dilemma.
Genetic counseling (Geneva, Switzerland) | 1996-01-01 | PMID 8652086
Soekarman D, Volcke P, Legius E and 2 more
Temperament in Williams syndrome.
Genetic counseling (Geneva, Switzerland) | 1996-01-01 | PMID 8652087
Plissart L, Borghgraef M, Fryns J P
Mental retardation, hypotrichosis and syndactyly: a new entity?
Genetic counseling (Geneva, Switzerland) | 1996-01-01 | PMID 8652088
Lopes V L, Marques-De-Faria A P
A distinct phenotype associated with partial trisomy 10q due to proximal direct duplication 10q11 --> q223?
Genetic counseling (Geneva, Switzerland) | 1996-01-01 | PMID 8652089
van Buggenhout G, Decock P, Fryns J P
Follow-up of a patient with partial trisomy 9p and partial monosomy 8p; description of physical and psychosocial development.
Genetic counseling (Geneva, Switzerland) | 1996-01-01 | PMID 8652090
Ausems M G, Van Spijker H G, Dijkhuis H J and 2 more
Inverted nipples in Robinow syndrome.
Genetic counseling (Geneva, Switzerland) | 1996-01-01 | PMID 8652091
Lorenzetti M H, Fryns J P
Expression and localization of tropoelastin mRNA in the developing bovine pulmonary artery is dependent on vascular cell phenotype.
American journal of respiratory cell and molecular biology | 1996-06-01 | PMID 8652185
Durmowicz A G, Frid M G, Wohrley J D and 1 more
Mutations, malformations and mortality.
Journal of paediatrics and child health | 1996-02-01 | PMID 8652204
Suthers G
Molecular genetic analysis of the von Hippel-Lindau disease (VHL) tumour suppressor gene in gonadal tumours.
European journal of cancer (Oxford, England : 1990) | 1995-12-01 | PMID 8652274
Foster K, Osborne R J, Huddart R A and 3 more
Genes: VHL
Multilocus enzyme electrophoresis typing of New Zealand Listeria monocytogenes isolates.
International journal of food microbiology | 1996-01-01 | PMID 8652343
Avery S M, Hudson J A, Buncic S
Differentiation of Saccharomyces cerevisiae strains isolated from fermenting musts according to their karyotype patterns.
International journal of food microbiology | 1996-01-01 | PMID 8652345
Briones A I, Ubeda J, Grando M S
Characterization of TGF-beta 1-binding proteins in human bone marrow stromal cells.
British journal of haematology | 1996-06-01 | PMID 8652367
Robledo M M, Hidalgo A, Lastres P and 4 more
Identification and characterization of an inherited mutation of PIG-A in a patient with paroxysmal nocturnal haemoglobinuria.
British journal of haematology | 1996-06-01 | PMID 8652378
Endo M, Ware R E, Vreeke T M and 2 more
p53 tumour suppressor gene and RAS oncogenes: molecular analysis in the chronic and leukaemic phases of essential thrombocythaemia.
British journal of haematology | 1996-06-01 | PMID 8652390
Neri A, Fracchiolla N S, Radaelli F and 5 more
Activated protein C resistance: a comparison between two clotting assays and their relationship to the presence of the factor V Leiden mutation.
British journal of haematology | 1996-06-01 | PMID 8652396
Legnani C, Palareti G, Biagi R and 6 more
Genes: APC
The genetic basis of a new partial D antigen: DDBT.
British journal of haematology | 1996-06-01 | PMID 8652401
Beckers E A, Faas B H, Simsek S and 5 more
Genes: RHD, RHCE, DBT
mex-1 and the general partitioning of cell fate in the early C. elegans embryo.
Mechanisms of development | 1996-02-01 | PMID 8652407
Schnabel R, Weigner C, Hutter H and 2 more
Female germ cells of Drosophila require zygotic ovo and otu product for survival in larvae and pupae respectively.
Mechanisms of development | 1996-02-01 | PMID 8652413
Staab S, Steinmann-Zwicky M
[Cell cycle analysis of temperature sensitive mutants for cell growth].
Human cell | 1995-09-01 | PMID 8652451
Nishimoto T
Changing the transition state for protein (Un) folding.
Biochemistry | 1996-06-11 | PMID 8652517
Doyle D F, Waldner J C, Parikh S and 2 more
Unusual effects of an engineered disulfide on global and local protein stability.
Biochemistry | 1996-06-11 | PMID 8652519
Betz S F, Marmorino J L, Saunders A J and 3 more
Substrate behavior of plasminogen activator inhibitor-1 is not associated with a lack of insertion of the reactive site loop.
Biochemistry | 1996-06-11 | PMID 8652525
Gils A, Knockaert I, Declerck P J
Intestinal fatty acid-binding protein: the structure and stability of a helix-less variant.
Biochemistry | 1996-06-11 | PMID 8652535
Kim K, Cistola D P, Frieden C
Fatty acid interactions with a helix-less variant of intestinal fatty acid-binding protein.
Biochemistry | 1996-06-11 | PMID 8652536
Cistola D P, Kim K, Rogl H and 1 more
Mutations in the B12-binding region of methionine synthase: how the protein controls methylcobalamin reactivity.
Biochemistry | 1996-02-20 | PMID 8652590
Jarrett J T, Amaratunga M, Drennan C L and 4 more
Construction and partial characterization of an L-amino acid oxidase-free Synechococcus PCC 7942 mutant and localization of the L-amino acid oxidase in the corresponding wild type.
Biochimica et biophysica acta | 1996-06-03 | PMID 8652660
Bockholt R, Scholten-Beck G, Pistorius E K
Long tandemly repeated repetitive (LTRR) sequences in the filamentous cyanobacterium Anabaena sp. PCC 7120.
Biochimica et biophysica acta | 1996-06-03 | PMID 8652664
Masepohl B, Görlitz K, Böhme H
A Thr359Met mutation in factor VII of a patient with a hereditary deficiency causes defective secretion of the molecule.
Blood | 1996-06-15 | PMID 8652821
Arbini A A, Mannucci M, Bauer K A
Mutations in DNA polymerase beta mRNA of stilbene estrogen-induced kidney tumors in Syrian hamster.
Biochemistry and molecular biology international | 1995-09-01 | PMID 8653081
Yan Z J, Roy D
Genes: DES
Absence of linkage between human obesity and the mouse agouti homologous region (20q11.2) or other markers spanning chromosome 20q.
Obesity research | 1995-11-01 | PMID 8653532
Xu W, Reed D R, Ding Y and 1 more
Low blood protein heterozygosity in zoo-bred hamadryas baboons.
Comparative biochemistry and physiology. Part B, Biochemistry & molecular biology | 1996-02-01 | PMID 8653592
Wang M, Schreiber A
Genes: MPI
Resistance of a variant ras-transformed cell line to phenotypic reversion by farnesyl transferase inhibitors.
Cancer research | 1996-06-01 | PMID 8653708
Prendergast G C, Davide J P, Lebowitz P F and 2 more
Biallelic alterations of both ETV6 and CDKN1B genes in a t(12;21) childhood acute lymphoblastic leukemia case.
Cancer research | 1996-06-01 | PMID 8653712
Wlodarska I, Baens M, Peeters P and 5 more
Genes: ETV6
MADR1, a MAD-related protein that functions in BMP2 signaling pathways.
Cell | 1996-05-17 | PMID 8653785
Hoodless P A, Haerry T, Abdollah S and 4 more
Genes: BMP2
The 70 kDa S6 kinase complexes with and is activated by the Rho family G proteins Cdc42 and Rac1.
Cell | 1996-05-17 | PMID 8653792
Chou M M, Blenis J
Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders.
Cell | 1996-05-17 | PMID 8653794
Downing A K, Knott V, Werner J M and 3 more
Genes: EGF
Investigation of natural genetic variation in the circadian system of Drosophila melanogaster. II. Biometrical analyses of locomotor activity rhythms recorded in constant darkness.
Chronobiology international | 1995-04-01 | PMID 8653802
Emery P T, Birley A J, Morgan E
Ischemic stroke and the gene for angiotensin-converting enzyme in Japanese hypertensives.
Circulation | 1996-05-01 | PMID 8653866
Kario K, Kanai N, Saito K and 3 more
Genes: ACE
Alpha but not beta interferon is useful in chronic active hepatitis due to hepatitis C virus. A prospective, double-blind, randomized study.
Digestive diseases and sciences | 1996-06-01 | PMID 8654159
Villa E, Trande P, Grottola A and 13 more
Preferential virological response to interferon-alpha 2a in patients with chronic hepatitis C infected by virus genotype 3a and exhibiting a low gamma-GT/ALT ratio.
Digestive diseases and sciences | 1996-06-01 | PMID 8654161
Mihm S, Hartmann H, Fayyazi A and 1 more
Utilizing the GCN4 leader region to investigate the role of the sequence determinants in nonsense-mediated mRNA decay.
The EMBO journal | 1996-06-03 | PMID 8654378
Ruiz-Echevarria M J, Peltz S W
Genes: PGK1
Overexpression of RII beta regulatory subunit of protein kinase A in human colon carcinoma cell induces growth arrest and phenotypic changes that are abolished by site-directed mutation of RII beta.
European journal of biochemistry | 1996-02-01 | PMID 8654392
Nesterova M, Yokozaki H, McDuffie E and 1 more
The association of focal adhesion kinase with a 200-kDa protein that is tyrosine phosphorylated in response to platelet-derived growth factor.
European journal of biochemistry | 1996-02-01 | PMID 8654393
Chen H C, Guan J L
Epidemiologic analysis of glycopeptide-resistant Enterococcus strains in neutropenic patients receiving prolonged vancomycin administration.
European journal of clinical microbiology & infectious diseases : official publication of the European Society of Clinical Microbiology | 1995-11-01 | PMID 8654446
Plessis P, Lamy T, Donnio P Y and 4 more
Mandibulofacial dysostosis: CT findings of the temporal bones.
European journal of radiology | 1995-11-01 | PMID 8654460
van Vierzen P B, Joosten F B, Marres H A and 2 more
Differential intrastromal invasion by normal ocular surface epithelia is mediated by different fibroblasts.
Experimental eye research | 1995-11-01 | PMID 8654495
Chen W Y, Tseng S C
Tailoring echistatin to possess higher affinity for integrin alpha(IIb)beta(3).
FEBS letters | 1996-05-27 | PMID 8654558
Yamada T, Kidera A
Analysis of basic fibroblast growth factor in rats with inherited retinal degeneration.
FEBS letters | 1996-05-27 | PMID 8654568
McLaren M J, An W, Brown M E and 1 more
Genes: RPE
Reoxidation of the NADPH produced by the pentose phosphate pathway is necessary for the utilization of glucose by Kluyveromyces lactis rag2 mutants.
FEBS letters | 1996-05-27 | PMID 8654569
González Siso M I, Freire Picos M A, Cerdán M E
Asp-285 of the metal-tetracycline/H+ antiporter of Escherichia coli is essential for substrate binding.
FEBS letters | 1996-06-10 | PMID 8654589
Kimura T, Yamaguchi A
Molecular determinants of external barium block in Shaker potassium channels.
FEBS letters | 1996-06-10 | PMID 8654591
Hurst R S, Toro L, Stefani E
New forms of HMW MAP2 are preferentially expressed in the spinal cord.
FEBS letters | 1996-06-10 | PMID 8654594
Couchie D, Chabas S, Mavilia C and 1 more
Genes: MAP2
PDGF-A is required for normal murine cardiovascular development.
Developmental biology | 1996-05-25 | PMID 8654889
Schattemann G C, Loushin C, Li T and 1 more
Wingless signaling induces nautilus expression in the ventral mesoderm of the Drosophila embryo.
Developmental biology | 1996-05-25 | PMID 8654890
Ranganayakulu G, Schulz R A, Olson E N
Immortalized Hensen's node cells secrete a factor that regulates avian neural crest cell fates in vitro.
Developmental biology | 1996-05-25 | PMID 8654895
Darland T, Leblanc G G
Genetic and cytological mapping of a "Y-2" translocation in the Mediterranean fruit fly Ceratitis capitata.
Genome | 1995-12-01 | PMID 8654910
Cladera J L, Delprat M A
Analysis of the genetic composition of anther-derived potato by randomly amplified polymorphic DNA and simple sequence repeats.
Genome | 1995-12-01 | PMID 8654912
Veilleux R E, Shen L Y, Paz M M
Genes: AGA
Variations of two repetitive DNA sequences in several Triticeae genomes revealed by polymerase chain reaction and sequencing.
Genome | 1995-12-01 | PMID 8654916
Wang R R, Wei J Z
Posterior patterning by the Caenorhabditis elegans even-skipped homolog vab-7.
Genes & development | 1996-05-01 | PMID 8654927
Ahringer J
The RNA-binding protein HF-I, known as a host factor for phage Qbeta RNA replication, is essential for rpoS translation in Escherichia coli.
Genes & development | 1996-05-01 | PMID 8654929
Muffler A, Fischer D, Hengge-Aronis R
Polymorphism of the mouse E2A gene due to an intronic deletion of 536 bp.
Gene | 1996-02-12 | PMID 8654934
Marlow S A, Kay P H, Papadimitriou J M
Comparison of the human genomic structure of the Runt domain-encoding PEBP2/CBFalpha gene family.
Gene | 1996-02-12 | PMID 8654962
Ahn M Y, Bae S C, Maruyama M and 1 more
Isolation of an HSP12-homologous gene of Schizosaccharomyces pombe suppressing a temperature-sensitive mutant allele of cdc4.
Gene | 1996-06-12 | PMID 8654972
Jang Y J, Park S K, Yoo H S
Missense mutations at the FKBP12-rapamycin-binding site of TOR1.
Gene | 1996-06-12 | PMID 8654975
Freeman K, Livi G P
VTR expression cassettes for engineering conditional phenotypes in Pseudomonas: activity of the Pu promoter of the TOL plasmid under limiting concentrations of the XylR activator protein.
Gene | 1996-06-12 | PMID 8654996
Pérez-Martín J, de Lorenzo V
A novel point mutation in congenital erythropoietic porphyria in two members of Japanese family.
Human genetics | 1996-05-01 | PMID 8655129
Tanigawa K, Bensidhoum M, Takamura N and 4 more
Coarctation of the aorta and renal hypoplasia in a boy with Turner/Noonan surface anomalies and a 46,XY karyotype: a clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner somatic stigmata.
Human genetics | 1996-05-01 | PMID 8655131
Hasegawa T, Ogata T, Hasegawa Y and 5 more
Tetrasomy 18p de novo: identification by FISH with conventional and microdissection probes and analysis of parental origin and formation by short sequence repeat typing.
Human genetics | 1996-05-01 | PMID 8655132
Eggermann T, Engels H, Moskalonek B and 5 more
Attenuated familial adenomatous polyposis due to a mutation in the 3' part of the APC gene. A clue for understanding the function of the APC protein.
Human genetics | 1996-05-01 | PMID 8655134
Friedl W, Meuschel S, Caspari R and 4 more
Genes: APC, FAP
Reevaluation of the exact CAG repeat length in hereditary cerebellar ataxias using highly denaturing conditions and long PCR.
Human genetics | 1996-05-01 | PMID 8655136
Maruyama H, Kawakami H, Nakamura S
SRY-negative true hermaphrodites and an XX male in two generations of the same family.
Human genetics | 1996-05-01 | PMID 8655137
Ramos E S, Moreira-Filho C A, Vicente Y A and 5 more
Genes: SRY
Systematic screening for mutations in the human serotonin-2A (5-HT2A) receptor gene: identification of two naturally occurring receptor variants and association analysis in schizophrenia.
Human genetics | 1996-05-01 | PMID 8655141
Erdmann J, Shimron-Abarbanell D, Rietschel M and 9 more
Characterization of the human p57KIP2 gene: alternative splicing, insertion/deletion polymorphisms in VNTR sequences in the coding region, and mutational analysis.
Human genetics | 1996-05-01 | PMID 8655143
Tokino T, Urano T, Furuhata T and 4 more
Screening for mutations in the neurofibromatosis type 2 (NF2) gene in sporadic meningiomas.
Human genetics | 1996-05-01 | PMID 8655144
De Vitis L R, Tedde A, Vitelli F and 5 more
Analysis of the neurofibromatosis type 2 gene in different human tumors of neuroectodermal origin.
Human genetics | 1996-05-01 | PMID 8655145
De Vitis L R, Tedde A, Vitelli F and 9 more
Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathy.
Human genetics | 1996-05-01 | PMID 8655146
Roa B B, Greenberg F, Gunaratne P and 7 more
Genes: PMP22
An additional allelic variant of the CYP2D6 gene causing impaired metabolism of sparteine.
Human genetics | 1996-05-01 | PMID 8655150
Marez D, Legrand M, Sabbagh N and 3 more
Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): genetic analysis of three unrelated SCA2 families.
Human genetics | 1996-05-01 | PMID 8655151
Lezin A, Cancel G, Stevanin G and 9 more
Genotypes with the apolipoprotein epsilon4 allele are predictors of coronary heart disease mortality in a longitudinal study of elderly Finnish men.
Human genetics | 1996-05-01 | PMID 8655152
Stengård J H, Pekkanen J, Ehnholm C and 2 more
A novel sequence polymorphism in the promoter region of the human B2-bradykinin receptor gene.
Human genetics | 1996-05-01 | PMID 8655154
Braun A, Maier E, Kammerer S and 2 more
Mapping of the variegate porphyria (VP) gene: contradictory evidence for linkage between VP and microsatellite markers at chromosome 14q32.
Human genetics | 1996-05-01 | PMID 8655155
Warnich L, Meissner P N, Hift R J and 3 more
New allele variants of the immunoglobulin switch (Salpha) regions.
Human genetics | 1996-05-01 | PMID 8655157
Keyeux G, Bernal J E
HLA-B*1303: a new example of poor correlation between serology and structure.
Human immunology | 1996-01-01 | PMID 8655357
Balas A, García-Sánchez F, Vicario J L
DRB1*1316: evolutionary and functional implications of a novel polymorphism at codon 86.
Human immunology | 1996-01-01 | PMID 8655358
Dinauer D M, Glumm R, Baxter-Lowe L A
Identification and DNA typing of two Cw7 alleles (Cw*0702 and Cw*0704) in Japanese, with the corrected sequence of Cw*0702.
Human immunology | 1996-01-01 | PMID 8655361
Wang H, Tokunaga K, Ishikawa Y and 7 more
The 8.5-kb PstI allele of the stress protein gene, Hsp70-2: an independent risk factor for systemic lupus erythematosus in African Americans?
Human immunology | 1996-01-01 | PMID 8655362
Jarjour W, Reed A M, Gauthier J and 2 more
A muscle hypertrophy condition in lamb (callipyge): characterization of effects on muscle growth and meat quality traits.
Journal of animal science | 1995-12-01 | PMID 8655433
Koohmaraie M, Shackelford S D, Wheeler T L and 2 more
Relationship of restriction fragment length polymorphisms (RFLP) at the bovine calpastatin locus to calpastatin activity and meat tenderness.
Journal of animal science | 1995-12-01 | PMID 8655434
Lonergan S M, Ernst C W, Bishop M D and 2 more
Absence of somatic changes in p21 gene in non-Hodgkin's lymphoma and chronic myelogenous leukemia.
Hematologic pathology | 1995-01-01 | PMID 8655461
Gong J Z, Zhou H, Hu Z and 4 more
Genes: PCNA
Redundant homosexual F transfer facilitates selection-induced reversion of plasmid mutations.
Journal of bacteriology | 1996-06-01 | PMID 8655477
Peters J E, Bartoszyk I M, Dheer S and 1 more
Genes: SDS
Growth suppression in early-stationary-phase nutrient broth cultures of Salmonella typhimurium and Escherichia coli is genus specific and not regulated by sigma S.
Journal of bacteriology | 1996-06-01 | PMID 8655482
Barrow P A, Lovell M A, Barber L Z
Role of FlgM in sigma D-dependent gene expression in Bacillus subtilis.
Journal of bacteriology | 1996-06-01 | PMID 8655488
Caramori T, Barilla D, Nessi C and 2 more
Evidence that SbcB and RecF pathway functions contribute to RecBCD-dependent transductional recombination.
Journal of bacteriology | 1996-06-01 | PMID 8655493
Miesel L, Roth J R
Global negative regulation of Streptomyces coelicolor antibiotic synthesis mediated by an absA-encoded putative signal transduction system.
Journal of bacteriology | 1996-06-01 | PMID 8655502
Brian P, Riggle P J, Santos R A and 1 more
A Ti plasmid-encoded enzyme required for degradation of mannopine is functionally homologous to the T-region-encoded enzyme required for synthesis of this opine in crown gall tumors.
Journal of bacteriology | 1996-06-01 | PMID 8655510
Kim K S, Chilton W S, Farrand S K
Analysis of suppressor mutations of spoIVCA mutations: occurrence of DNA rearrangement in the absence of site-specific DNA recombinase SpoIVCA in Bacillus subtilis.
Journal of bacteriology | 1996-06-01 | PMID 8655528
Sato T, Harada K, Kobayashi Y