Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome?
Journal of medical genetics | 1998-01-01 | PMID 9475094
Kikuchi H, Takata A, Akasaka Y and 6 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 949 of 10600
Partial trisomy 1(q42-->qter): a new case with a mild phenotype.
Journal of medical genetics | 1998-01-01 | PMID 9475102
Concolino D, Cinti R, Ferraro L and 2 more
Intrachromosomal triplication of distal 7p.
Journal of medical genetics | 1998-01-01 | PMID 9475103
Rivera H, Bobadilla L, Rolon A and 2 more
Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene.
FEBS letters | 1998-01-23 | PMID 9475163
McNally E M, Ly C T, Kunkel L M
Micropapillary serous carcinoma of the ovary: an immunohistochemical and mutational analysis of p53.
International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists | 1998-01-01 | PMID 9475193
Katabuchi H, Tashiro H, Cho K R and 2 more
Association of pulmonary surfactant protein A (SP-A) gene and respiratory distress syndrome: interaction with SP-B.
Pediatric research | 1998-02-01 | PMID 9475280
Kala P, Ten Have T, Nielsen H and 2 more
A roadmap for HLA-DR peptide binding specificities.
Human immunology | 1997-12-01 | PMID 9475335
Chelvanayagam G
Genetic variability and linkage disequilibrium within the DP region in the CEPH families.
Human immunology | 1997-12-01 | PMID 9475340
Moonsamy P V, Klitz W, Tilanus M G and 1 more
The phenotype of SLE associated with complete deficiency of complement isotype C4A.
Journal of clinical immunology | 1998-01-01 | PMID 9475353
Welch T R, Brickman C, Bishof N and 4 more
HLA-DRB1 alleles contribute to determining the prognosis of Japanese diabetes mellitus positive for antibodies to glutamate decarboxylase.
Journal of clinical immunology | 1998-01-01 | PMID 9475358
Fukui M, Nakano K, Nakamura N and 14 more
Hormone-specific inhibitory influence of alpha-subunit Asn56 oligosaccharide on in vitro subunit association and follicle-stimulating hormone receptor binding of equine gonadotropins.
Biology of reproduction | 1998-02-01 | PMID 9475402
Butney V Y, Gotschall R R, Butnev V Y and 3 more
Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case.
American journal of medical genetics | 1998-01-23 | PMID 9475591
Schaefer F, Anderson C, Can B and 1 more
Genes: FGFR2
Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome.
American journal of medical genetics | 1998-01-23 | PMID 9475595
Bahuau M, Houdayer C, Assouline B and 8 more
Distribution of (CGG)n and FMR-1 associated microsatellite alleles in a normal Chilean population.
American journal of medical genetics | 1998-01-23 | PMID 9475597
Jara L, Aspillaga M, Avendaño I and 3 more
RSH (Smith-Lemli-Opitz) syndrome: "severe" phenotype with ectrodactyly.
American journal of medical genetics | 1998-01-23 | PMID 9475598
de Jong G, Kirby P A, Muller L M
Deletion of 22q11 in two brothers with different phenotype.
American journal of medical genetics | 1998-01-23 | PMID 9475599
Kasprzak L, Der Kaloustian V M, Elliott A M and 3 more
Molecular characterization of FRAXE-positive subjects with mental impairement in two unrelated Italian families.
American journal of medical genetics | 1998-01-23 | PMID 9475603
Russo S, Selicorni A, Bedeschi M F and 6 more
Fibrochondrogenesis in a 17-week fetus: a case expanding the phenotype.
American journal of medical genetics | 1998-01-23 | PMID 9475607
Hunt N C, Vujanić G M
The effect of mismatch repair and heteroduplex formation on sexual isolation in Bacillus.
Genetics | 1998-01-01 | PMID 9475717
Majewski J, Cohan F M
Multiple genetic controls on Rhizobium meliloti syrA, a regulator of exopolysaccharide abundance.
Genetics | 1998-01-01 | PMID 9475718
Barnett M J, Swanson J A, Long S R
An essential function of a phosphoinositide-specific phospholipase C is relieved by inhibition of a cyclin-dependent protein kinase in the yeast Saccharomyces cerevisiae.
Genetics | 1998-01-01 | PMID 9475719
Flick J S, Thorner J
Isolation of a Schizosaccharomyces pombe rad21ts mutant that is aberrant in chromosome segregation, microtubule function, DNA repair and sensitive to hydroxyurea: possible involvement of Rad21 in ubiquitin-mediated proteolysis.
Genetics | 1998-01-01 | PMID 9475720
Tatebayashi K, Kato J, Ikeda H
Evidence for independent mismatch repair processing on opposite sides of a double-strand break in Saccharomyces cerevisiae.
Genetics | 1998-01-01 | PMID 9475721
Weng Y S, Nickoloff J A
Genetic interaction with vps8-200 allows partial suppression of the vestigial vacuole phenotype caused by a pep5 mutation in Saccharomyces cerevisiae.
Genetics | 1998-01-01 | PMID 9475722
Woolford C A, Bounoutas G S, Frew S E and 1 more
Pth1/Vam3p is the syntaxin homolog at the vacuolar membrane of Saccharomyces cerevisiae required for the delivery of vacuolar hydrolases.
Genetics | 1998-01-01 | PMID 9475723
Srivastava A, Jones E W
TOR2 is part of two related signaling pathways coordinating cell growth in Saccharomyces cerevisiae.
Genetics | 1998-01-01 | PMID 9475724
Helliwell S B, Howald I, Barbet N and 1 more
Long, interrupted conversion tracts initiated by cog in Neurospora crassa.
Genetics | 1998-01-01 | PMID 9475725
Yeadon P J, Catcheside D E
The Neurospora aab-1 gene encodes a CCAAT binding protein homologous to yeast HAP5.
Genetics | 1998-01-01 | PMID 9475726
Chen H, Crabb J W, Kinsey J A
The Chlamydomonas zygospore: mutant strains of Chlamydomonas monoica blocked in zygospore morphogenesis comprise 46 complementation groups.
Genetics | 1998-01-01 | PMID 9475727
VanWinkle-Swift K, Baron K, McNamara A and 3 more
A mutation in Paramecium tetraurelia reveals functional and structural features of developmentally excised DNA elements.
Genetics | 1998-01-01 | PMID 9475728
Mayer K M, Mikami K, Forney J D
Identification of Caenorhabditis elegans genes required for neuronal differentiation and migration.
Genetics | 1998-01-01 | PMID 9475729
Forrester W C, Perens E, Zallen J A and 1 more
The phenotype of mes-2, mes-3, mes-4 and mes-6, maternal-effect genes required for survival of the germline in Caenorhabditis elegans, is sensitive to chromosome dosage.
Genetics | 1998-01-01 | PMID 9475730
Garvin C, Holdeman R, Strome S
Analysis of osm-6, a gene that affects sensory cilium structure and sensory neuron function in Caenorhabditis elegans.
Genetics | 1998-01-01 | PMID 9475731
Collet J, Spike C A, Lundquist E A and 2 more
Genes: OSM
Quantitative genetics of ovariole number in Drosophila melanogaster. II. Mutational variation and genotype-environment interaction.
Genetics | 1998-01-01 | PMID 9475732
Wayne M L, Mackay T F
Enhancer of Polycomb is a suppressor of position-effect variegation in Drosophila melanogaster.
Genetics | 1998-01-01 | PMID 9475733
Sinclair D A, Clegg N J, Antonchuk J and 6 more
Genetic analysis of brahma: the Drosophila homolog of the yeast chromatin remodeling factor SWI2/SNF2.
Genetics | 1998-01-01 | PMID 9475737
Elfring L K, Daniel C, Papoulas O and 9 more
A genetic screen to identify components of the sina signaling pathway in Drosophila eye development.
Genetics | 1998-01-01 | PMID 9475739
Neufeld T P, Tang A H, Rubin G M
Age-specific properties of spontaneous mutations affecting mortality in Drosophila melanogaster.
Genetics | 1998-01-01 | PMID 9475740
Pletcher S D, Houle D, Curtsinger J W
The role of gene conversion in determining sequence variation and divergence in the Est-5 gene family in Drosophila pseudoobscura.
Genetics | 1998-01-01 | PMID 9475741
King L M
Genetic mapping of quantitative trait loci affecting susceptibility to Marek's disease virus induced tumors in F2 intercross chickens.
Genetics | 1998-01-01 | PMID 9475745
Vallejo R L, Bacon L D, Liu H C and 4 more
An altered intron inhibits synthesis of the acetylcholine receptor alpha-subunit in the paralyzed zebrafish mutant nic1.
Genetics | 1998-01-01 | PMID 9475746
Sepich D S, Wegner J, O'Shea S and 1 more
Genetic analysis of chromosomal rearrangements in the cyclops region of the zebrafish genome.
Genetics | 1998-01-01 | PMID 9475747
Talbot W S, Egan E S, Gates M A and 5 more
The murine misty mutation: phenotypic effects on melanocytes, platelets and brown fat.
Genetics | 1998-01-01 | PMID 9475748
Sviderskaya E V, Novak E K, Swank R T and 1 more
An extensive 3' regulatory region controls expression of Bmp5 in specific anatomical structures of the mouse embryo.
Genetics | 1998-01-01 | PMID 9475750
DiLeone R J, Russell L B, Kingsley D M
Departure from neutrality at the mitochondrial NADH dehydrogenase subunit 2 gene in humans, but not in chimpanzees.
Genetics | 1998-01-01 | PMID 9475751
Wise C A, Sraml M, Easteal S
Restriction fragment length polymorphism and divergence in the genomic regions of high and low recombination in self-fertilizing and cross-fertilizing aegilops species.
Genetics | 1998-01-01 | PMID 9475752
Dvorák J, Luo M C, Yang Z L
Epigenetic instability and trans-silencing interactions associated with an SPT::Ac T-DNA locus in tobacco.
Genetics | 1998-01-01 | PMID 9475755
English J J, Jones J D
Genetic polymorphism of cat (Felis catus) plasma orosomucoid.
Biochemical genetics | 1997-10-01 | PMID 9475955
Yoshida H, Arthur H, Bell K
Debrisoquine and S-mephenytoin hydroxylation polymorphisms in a Russian population living in Estonia.
European journal of clinical pharmacology | 1997-01-01 | PMID 9476041
Marandi T, Dahl M L, Rägo L and 2 more
Catabolism of the human erythrocyte C3b/C4b receptor (CR1, CD35): vesiculation and/or proteolysis?
Immunopharmacology | 1997-12-01 | PMID 9476124
Dervillez X, Oudin S, Libyh M T and 6 more
Molecular, genetic, and functional analysis of homozygous C8 beta-chain deficiency in two siblings.
Immunopharmacology | 1997-12-01 | PMID 9476133
Kotnik V, Luznik-Bufon T, Schneider P M and 1 more
Genes: SDS
Interferon therapy in HCV-positive mixed cryoglobulinaemia: viral and host factors contributing to efficacy of the therapy.
Italian journal of gastroenterology and hepatology | 1997-08-01 | PMID 9476189
Mazzaro C, Carniello G S, Colle R and 10 more
Ciliary neurotrophic factor (CNTF) genotypes: influence on choline acetyltransferase (ChAT) and acetylcholine esterase (AChE) activities and neurotrophin 3 (NT3) concentration in human post mortem brain tissue.
Journal fur Hirnforschung | 1997-01-01 | PMID 9476208
Thome J, Nara K, Foley P and 5 more
Genes: CNTF
Ontogeny of GABA-immunoreactive cells in the prefrontal and occipital cortices of the primate.
Journal fur Hirnforschung | 1997-01-01 | PMID 9476211
Yamashita A, Hayashi M
Neural tube defects in chromosomally normal and abnormal human embryos.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology | 1997-12-01 | PMID 9476327
Coerdt W, Miller K, Holzgreve W and 3 more
Multilocus enzyme electrophoresis analysis of Candida albicans isolates from three intensive care units. An epidemiological study.
Mycoses | 1997-10-01 | PMID 9476482
Arnavielhe S, Blancard A, Mallié M and 2 more
Switch of phenotype as an escape mechanism of the intruder.
Mycoses | 1997-01-01 | PMID 9476497
Odds E C
Programmed cell death in nodular palmar fibromatosis (Morbus Dupuytren).
Histology and histopathology | 1998-01-01 | PMID 9476635
Wilutzky B, Berndt A, Katenkamp D and 1 more
Skeletal muscle fibre types: detection methods and embryonic determinants.
Histology and histopathology | 1998-01-01 | PMID 9476649
Zhang M, Koishi K, McLennan I S
Ovarian development in mice bearing homozygous or heterozygous null mutations in zona pellucida glycoprotein gene mZP3.
Histology and histopathology | 1998-01-01 | PMID 9476659
Wassarman P M, Liu C, Chen J and 2 more
Immunosenescence and germinal center reaction.
Immunological reviews | 1997-12-01 | PMID 9476666
Zheng B, Han S, Takahashi Y and 1 more
Delineating a putative phobic-anxious temperament in 126 panic-agoraphobic patients: toward a rapprochement of European and US views.
Journal of affective disorders | 1998-01-01 | PMID 9476739
Perugi G, Toni C, Benedetti A and 5 more
The nicotinic acetylcholine alpha-subunit gene tar-1 is located on the X chromosome but its coding sequence is not involved in levamisole resistance in an isolate of Trichostrongylus colubriformis.
Molecular and biochemical parasitology | 1997-12-15 | PMID 9476789
Wiley L J, Ferrara D R, Sangster N C and 1 more
Genetic variation in the dimorphic regions of RAP-1 genes and rap-1 loci of Babesia bigemina.
Molecular and biochemical parasitology | 1997-12-15 | PMID 9476795
Hötzel I, Suarez C E, McElwain T F and 1 more
A pilot clinical trial of oral sodium 4-phenylbutyrate (Buphenyl) in deltaF508-homozygous cystic fibrosis patients: partial restoration of nasal epithelial CFTR function.
American journal of respiratory and critical care medicine | 1998-02-01 | PMID 9476862
Rubenstein R C, Zeitlin P L
Genes: CFTR
Tryptophan hydroxylase and catechol-O-methyltransferase gene polymorphisms: relationships to monoamine metabolite concentrations in CSF of healthy volunteers.
European archives of psychiatry and clinical neuroscience | 1997-01-01 | PMID 9477008
Jönsson E G, Goldman D, Spurlock G and 5 more
Genes: COMT
Effects of a fibrin-fibronectin sealing system on proliferation and type I collagen synthesis of human PDL fibroblasts in vitro.
Journal of clinical periodontology | 1998-01-01 | PMID 9477014
Fabris G, Trombelli L, Schincaglia G P and 3 more
Identification of a genetic region in mice that specifies sensitivity to propofol.
Anesthesiology | 1998-02-01 | PMID 9477059
Simpson V J, Rikke B A, Costello J M and 2 more
Determination of pancreatic ductal carcinoma histogenesis by analysis of mucous quality and K-ras mutation.
Cancer | 1998-02-15 | PMID 9477096
Matsubayashi H, Watanabe H, Nishikura K and 3 more
The gene encoding the alpha1A-voltage-dependent calcium channel (CACN1A4) is not a candidate for causing common subtypes of idiopathic generalized epilepsy.
Epilepsy research | 1998-01-01 | PMID 9477143
Sander T, Peters C, Janz D and 6 more
Genes: NPL
Augmentation of sinecomitant immunity in mice by gamma-(9H-purine-6-yl)thiomethyl L-glutamate (6-MPG), a water-soluble derivative of 6-mercaptopurine.
Biological & pharmaceutical bulletin | 1998-01-01 | PMID 9477163
Kashida T, Narasaki N, Tsujihara K and 2 more
Genes: MPG
Multifactorial involvement of multidrug resistance-associated [correction of resistance] protein, DNA topoisomerase II and glutathione/glutathione-S-transferase in nonP-glycoprotein-mediated multidrug resistance in human bladder cancer cells.
International journal of urology : official journal of the Japanese Urological Association | 1997-11-01 | PMID 9477189
Kim W J, Kakehi Y, Yoshida O
Expression of the PEBP2alphaA/AML3/CBFA1 gene is regulated by BMP4/7 heterodimer and its overexpression suppresses type I collagen and osteocalcin gene expression in osteoblastic and nonosteoblastic mesenchymal cells.
Bone | 1998-02-01 | PMID 9477230
Tsuji K, Ito Y, Noda M
Genes: BMP4, BMP2
daf-12 regulates developmental age and the dauer alternative in Caenorhabditis elegans.
Development (Cambridge, England) | 1998-04-01 | PMID 9477318
Antebi A, Culotti J G, Hedgecock E M
The Additional sex combs gene of Drosophila encodes a chromatin protein that binds to shared and unique Polycomb group sites on polytene chromosomes.
Development (Cambridge, England) | 1998-04-01 | PMID 9477319
Sinclair D A, Milne T A, Hodgson J W and 5 more
MGOUN1 and MGOUN2: two genes required for primordium initiation at the shoot apical and floral meristems in Arabidopsis thaliana.
Development (Cambridge, England) | 1998-04-01 | PMID 9477323
Laufs P, Dockx J, Kronenberger J and 1 more
The lines gene of Drosophila is required for specific functions of the Abdominal-B HOX protein.
Development (Cambridge, England) | 1998-04-01 | PMID 9477325
Castelli-Gair J
Rescue of the parathyroid hormone-related protein knockout mouse demonstrates that parathyroid hormone-related protein is essential for mammary gland development.
Development (Cambridge, England) | 1998-04-01 | PMID 9477327
Wysolmerski J J, Philbrick W M, Dunbar M E and 3 more
Genes: PTH
Nuclear-fallout, a Drosophila protein that cycles from the cytoplasm to the centrosomes, regulates cortical microfilament organization.
Development (Cambridge, England) | 1998-04-01 | PMID 9477328
Rothwell W F, Fogarty P, Field C M and 1 more
Uncoupling of basal body duplication and cell division in crochu, a mutant of Paramecium hypersensitive to nocodazole.
Development (Cambridge, England) | 1998-04-01 | PMID 9477329
Jerka-Dziadosz M, Ruiz F, Beisson J
The let-99 gene is required for proper spindle orientation during cleavage of the C. elegans embryo.
Development (Cambridge, England) | 1998-04-01 | PMID 9477332
Rose L S, Kemphues K
Allele frequency distributions in pooled DNA samples: applications to mapping complex disease genes.
Genome research | 1998-02-01 | PMID 9477339
Shaw S H, Carrasquillo M M, Kashuk C and 2 more
The distribution of variation in regulatory gene segments, as present in MHC class II promoters.
Genome research | 1998-02-01 | PMID 9477340
Cowell L G, Kepler T B, Janitz M and 2 more
Effects of the Booroola gene FecBB on somatic and germ cells of the fetal testis.
Reproduction, nutrition, development | 2000-01-01 | PMID 9477432
Hochereau-de Reviers M T, Perreau C, Cognié Y
Lack of mutation in the WAF1/CIP1 gene during bovine leukemia virus-induced leukemogenesis.
Veterinary immunology and immunopathology | 1997-11-01 | PMID 9477480
Dequiedt F, Willems L, Kerkhofs P and 2 more
Genetic analysis of female gametophyte development and function.
The Plant cell | 1998-01-01 | PMID 9477569
Drews G N, Lee D, Christensen C A
SPA1: a new genetic locus involved in phytochrome A-specific signal transduction.
The Plant cell | 1998-01-01 | PMID 9477570
Hoecker U, Xu Y, Quail P H
AtKUP1: an Arabidopsis gene encoding high-affinity potassium transport activity.
The Plant cell | 1998-01-01 | PMID 9477571
Kim E J, Kwak J M, Uozumi N and 1 more
Observation of Saccharomyces cerevisiae in blood of patient undergoing root canal treatment.
International endodontic journal | 1997-09-01 | PMID 9477820
Debelian G J, Olsen I, Tronstad L
Genes: SDS
Apoptotic cell death during normal embryogenesis of the coronal suture: early detection of apoptosis in mice using annexin V.
The Journal of craniofacial surgery | 1997-11-01 | PMID 9477828
Bourez R L, Mathijssen I M, Vaandrager J M and 1 more
Allotypes and gynecological cancer.
Clinical and experimental obstetrics & gynecology | 1997-01-01 | PMID 9478298
Hitoglou-Hadji S, Makedos G, Papanicolaou A and 1 more
Linkage of adhesion, filamentous growth, and virulence in Candida albicans to a single gene, INT1.
Science (New York, N.Y.) | 1998-02-27 | PMID 9478896
Gale C A, Bendel C M, McClellan M and 4 more
Regulation of flowering time by Arabidopsis photoreceptors.
Science (New York, N.Y.) | 1998-02-27 | PMID 9478898
Guo H, Yang H, Mockler T C and 1 more
Genes: CRY2
Changes in auxin response from mutations in an AUX/IAA gene.
Science (New York, N.Y.) | 1998-02-27 | PMID 9478901
Rouse D, Mackay P, Stirnberg P and 2 more
PRK1 is targeted to endosomes by the small GTPase, RhoB.
The Journal of biological chemistry | 1998-02-27 | PMID 9478917
Mellor H, Flynn P, Nobes C D and 2 more
The annealing of tRNA3Lys to human immunodeficiency virus type 1 primer binding site is critically dependent on the NCp7 zinc fingers structure.
The Journal of biological chemistry | 1998-02-27 | PMID 9478919
Remy E, de Rocquigny H, Petitjean P and 4 more
The alpha-subunit of the heterotrimeric G protein G13 activates a phospholipase D isozyme by a pathway requiring Rho family GTPases.
The Journal of biological chemistry | 1998-02-27 | PMID 9478920
Plonk S G, Park S K, Exton J H
Forcing thermodynamically unfolded proteins to fold.
The Journal of biological chemistry | 1998-02-27 | PMID 9478922
Baskakov I, Bolen D W
Signal transduction pathways activated by RET oncoproteins in PC12 pheochromocytoma cells.
The Journal of biological chemistry | 1998-02-27 | PMID 9478934
Xing S, Furminger T L, Tong Q and 1 more
Genes: RET, JUN
The role of single-stranded DNA in Flp-mediated strand exchange.
The Journal of biological chemistry | 1998-02-27 | PMID 9478936
Zhu X D, Sadowski P D