Interstitial deletion of 4p15.32p16.3 in a boy with minor anomalies, hearing loss, borderline intelligence, and oligodontia.
American journal of medical genetics | 1999-10-08 | PMID 10494085
Kozma C, Chong S S, Meck J M
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 1208 of 10600
Mutational analysis of the cardiac actin gene in familial and sporadic dilated cardiomyopathy.
American journal of medical genetics | 1999-10-08 | PMID 10494087
Takai E, Akita H, Shiga N and 8 more
Recurrent NF1 gene mutation in a patient with oligosymptomatic neurofibromatosis type 1 (NF1).
American journal of medical genetics | 1999-10-08 | PMID 10494088
Buske A, Gewies A, Lehmann R and 4 more
X-linked lissencephaly with absent corpus callosum and ambiguous genitalia.
American journal of medical genetics | 1999-10-08 | PMID 10494089
Dobyns W B, Berry-Kravis E, Havernick N J and 2 more
Genes: DCX
Phenotype of adults with the 22q11 deletion syndrome: A review.
American journal of medical genetics | 1999-10-08 | PMID 10494092
Cohen E, Chow E W, Weksberg R and 1 more
Methylenetetrahydrofolate reductase (MTHFR): the incidence of mutations C677T and A1298C in the Ashkenazi Jewish population.
American journal of medical genetics | 1999-10-08 | PMID 10494095
Rady P L, Tyring S K, Hudnall S D and 4 more
Genes: MTHFR
Segregation analysis of idiopathic scoliosis: demonstration of a major gene effect.
American journal of medical genetics | 1999-10-08 | PMID 10494097
Axenovich T I, Zaidman A M, Zorkoltseva I V and 2 more
Allele-specific polymerase chain reaction for genotyping human cytochrome P450 2E1.
Journal of clinical laboratory analysis | 1999-01-01 | PMID 10494127
Sohda T
Base substitution spectra of nalidixylate resistant mutations induced by monochromatic soft X and 60Co gamma-rays in Bacillus subtilis spores.
Journal of radiation research | 1999-06-01 | PMID 10494143
Takahashi N, Hieda K, Morohoshi F and 1 more
[Prions and their characteristics in light of recent tests].
Przeglad lekarski | 1999-01-01 | PMID 10494173
Szostek S, Zgórniak-Nowosielska I
Clinical and neurobiological correlates of D10S1423 genotype in Alzheimer's disease.
Biological psychiatry | 1999-09-15 | PMID 10494441
Zubenko G S, Hughes H B, Stiffler J S
Longitudinal stability of CSF tau levels in Alzheimer patients.
Biological psychiatry | 1999-09-15 | PMID 10494442
Sunderland T, Wolozin B, Galasko D and 7 more
A segregation study of panic disorder in families of panic patients responsive to the 35% CO2 challenge.
Biological psychiatry | 1999-09-15 | PMID 10494450
Cavallini M C, Perna G, Caldirola D and 1 more
HTR2C Cys23Ser polymorphism in relation to CSF monoamine metabolite concentrations and DSM-III-R psychiatric diagnoses.
Biological psychiatry | 1999-09-15 | PMID 10494451
Lappalainen J, Long J C, Virkkunen M and 3 more
The protective immune response of yellowtail Seriola quinqueradiata to the bacterial fish pathogen Lactococcus garvieae.
Diseases of aquatic organisms | 1999-07-30 | PMID 10494501
Ooyama T, Kera A, Okada T and 2 more
[Gastrointestinal complications of adult patients with cystic fibrosis].
Zeitschrift fur Gastroenterologie | 1999-08-01 | PMID 10494610
Bargon J, Stein J, Dietrich C F and 3 more
Genes: CFTR
Mosquito genomes: structure, organization, and evolution.
Advances in genetics | 1999-01-01 | PMID 10494615
Rai K S, Black W C
The petite mutation in yeasts: 50 years on.
International review of cytology | 2000-01-01 | PMID 10494627
Chen X J, Clark-Walker G D
Genes: PGS1
Aberrant nodulation response of Vigna umbellata to a Bradyrhizobium japonicum NodZ mutant and nodulation signals.
Molecular plant-microbe interactions : MPMI | 1999-09-01 | PMID 10494629
Cohn J, Stokkermans T, Kolli V K and 6 more
Genetic and physical mapping of the RPP13 locus, in Arabidopsis, responsible for specific recognition of several Peronospora parasitica (downy mildew) isolates.
Molecular plant-microbe interactions : MPMI | 1999-09-01 | PMID 10494631
Bittner-Eddy P, Can C, Gunn N and 5 more
Phaseolus vulgaris recognizes Azorhizobium caulinodans Nod factors with a variety of chemical substituents.
Molecular plant-microbe interactions : MPMI | 1999-09-01 | PMID 10494633
Laeremans T, Snoeck C, Mariën J and 4 more
Leptin: physiological actions.
Journal of physiology and biochemistry | 1999-03-01 | PMID 10494659
Martí A, Berraondo B, Martínez J A
Hereditary homozygous heparin cofactor II deficiency and the risk of developing venous thrombosis.
Thrombosis and haemostasis | 1999-09-01 | PMID 10494755
Villa P, Aznar J, Vaya A and 4 more
A common splice site mutation is shared by two families with different type 2N von Willebrand disease mutations.
Thrombosis and haemostasis | 1999-09-01 | PMID 10494764
Nesbitt I M, Hampton K K, Preston F E and 2 more
Genes: VWF
Inconsistency of association between type 1 von Willebrand disease phenotype and genotype in families identified in an epidemiological investigation.
Thrombosis and haemostasis | 1999-09-01 | PMID 10494765
Castaman G, Eikenboom J C, Bertina R M and 1 more
Genes: VWF
Genetic modulation of plasma protein S levels by two frequent dimorphisms in the PROS1 gene.
Thrombosis and haemostasis | 1999-09-01 | PMID 10494768
Leroy-Matheron C, Duchemin J, Levent M and 1 more
Genes: PROS1
Familial coagulation factor V deficiency caused by a novel 4 base pair insertion in the factor V gene: factor V Stanford.
Thrombosis and haemostasis | 1999-09-01 | PMID 10494770
Zehnder J L, Hiraki D D, Jones C D and 2 more
Longevity is independent of common variations in genes associated with cardiovascular risk.
Thrombosis and haemostasis | 1999-09-01 | PMID 10494771
Bladbjerg E M, Andersen-Ranberg K, de Maat M P and 4 more
Genes: ACE, MTHFR
Regular exercise, plasminogen activator inhibitor-1 (PAI-1) activity and the 4G/5G promoter polymorphism in the PAI-1 gene.
Thrombosis and haemostasis | 1999-09-01 | PMID 10494774
Väisänen S B, Humphries S E, Luong L A and 3 more
The 4G4G genotype of the plasminogen activator inhibitor 4G/5G gene polymorphism is associated with coronary atherosclerosis in patients at high risk for this disease.
Thrombosis and haemostasis | 1999-09-01 | PMID 10494775
Gardemann A, Lohre J, Katz N and 3 more
Genes: CAD
Tuning the human heart molecular motors by myosin light chains.
Journal of molecular medicine (Berlin, Germany) | 1999-07-01 | PMID 10494800
Morano I
Transgenic rats expressing the human ET-2 gene: a model for the study of endothelin actions in vivo.
Journal of molecular medicine (Berlin, Germany) | 1999-07-01 | PMID 10494802
Liefeldt L, Schönfelder G, Böcker W and 4 more
Mitochondria harbouring mutant mtDNA--a cuckoo in the nest?
Biological chemistry | 2000-01-01 | PMID 10494836
Hofhaus G, Gattermann N
Mutant p53: gain-of-function oncoproteins and wild-type p53 inactivators.
Biological chemistry | 2000-01-01 | PMID 10494837
Roemer K
Mutations of calcium channel beta subunit genes in mice.
Biological chemistry | 2000-01-01 | PMID 10494839
Freise D, Himmerkus N, Schroth G and 4 more
Universal and unique features of kinesin motors: insights from a comparison of fungal and animal conventional kinesins.
Biological chemistry | 2000-01-01 | PMID 10494842
Kirchner J, Woehlke G, Schliwa M
An overview of host cell selection.
Developments in biological standardization | 1999-01-01 | PMID 10494955
Robertson J S
Do the same genes predispose to Gilles de la Tourette syndrome and dystonia? Report of a new family and review of the literature.
Movement disorders : official journal of the Movement Disorder Society | 1999-09-01 | PMID 10495045
Németh A H, Mills K R, Elston J S and 3 more
Low-density lipoprotein receptor-related protein (LRP) gene 766T polymorphism and Parkinson's disease.
Movement disorders : official journal of the Movement Disorder Society | 1999-09-01 | PMID 10495048
Baum L, Dong Z Y, Ng H K and 3 more
Maternal and zygotic control of serotonin biosynthesis are both necessary for Drosophila germband extension.
Mechanisms of development | 1999-09-01 | PMID 10495272
Colas J F, Launay J M, Maroteaux L
Musashi and seven in absentia downregulate Tramtrack through distinct mechanisms in Drosophila eye development.
Mechanisms of development | 1999-09-01 | PMID 10495274
Hirota Y, Okabe M, Imai T and 6 more
Genes: TTK
The range of spalt-activating Dpp signalling is reduced in endocytosis-defective Drosophila wing discs.
Mechanisms of development | 1999-09-01 | PMID 10495278
González-Gaitán M, Jäckle H
Power frequency fields promote cell differentiation coincident with an increase in transforming growth factor-beta(1) expression.
Bioelectromagnetics | 1999-10-01 | PMID 10495311
Aaron R K, Ciombor D M, Keeping H and 3 more
The different approaches to the genetic analysis of autoimmune thyroid disease.
The Journal of endocrinology | 1999-10-01 | PMID 10495401
Allahabadia A, Gough S C
Nerve growth factor-hypersecreting Schwann cell grafts augment and guide spinal cord axonal growth and remyelinate central nervous system axons in a phenotypically appropriate manner that correlates with expression of L1.
The Journal of comparative neurology | 1999-11-01 | PMID 10495438
Weidner N, Blesch A, Grill R J and 1 more
Genes: NGF
ACE, PAI-1, decorin and Werner helicase genes are not associated with the development of renal disease in European patients with type 1 diabetes.
Diabetes/metabolism research and reviews | 2000-01-01 | PMID 10495473
De Cosmo S, Margaglione M, Tassi V and 14 more
Genes: ACE
[Selected anatomical features of the foot with hallux valgus].
Chirurgia narzadow ruchu i ortopedia polska | 1999-01-01 | PMID 10495555
Orzechowski W, Wall A
[Genetic predisposition to breast cancer: a review in April 1998].
Contraception, fertilite, sexualite (1992) | 2000-01-01 | PMID 10495568
Stoppa-Lyonnet D
Genes: BRCA1, BRCA2
Vascular expression of polycystin.
Journal of the American Society of Nephrology : JASN | 1997-04-01 | PMID 10495791
Griffin M D, Torres V E, Grande J P and 1 more
Genes: PKD1
[Development and establishment of a yeast-based stop codon assay for detection of NF2 gene premature-terminating mutations].
[Hokkaido igaku zasshi] The Hokkaido journal of medical science | 1999-09-01 | PMID 10495852
Kobayashi H
Ethanol tolerance and alcohol dehydrogenase (ADH; EC 1.1.1.1) activity in species of the cardini group of Drosophila.
Biochemical genetics | 1999-04-01 | PMID 10495885
Colón-Parrilla W V, Pérez-Chiesa I
[A test system based on the lux-regulon from Vibrio fischeri for studying the functional activity of mutant forms of Escherichia coli lon-proteinase].
Bioorganicheskaia khimiia | 1999-05-01 | PMID 10495894
Manukhov I V, Eroshnikov G E, Zavil'gel'skiĭ G B and 5 more
Development of a highly accurate, rapid PCR-RFLP genotyping assay for the methylenetetrahydrofolate reductase gene.
Genetic testing | 1999-01-01 | PMID 10495928
Sell S M, Lugemwa P R
Genes: MTHFR
Mutations in exon 3 of the PAH gene causing mild hyperphenylalaninemia.
Genetic testing | 1999-01-01 | PMID 10495930
Zekanowski C, Nowacka M, Gizewska M and 3 more
Genes: PAH
[A study of the UV-sensitivity in Drosophila strains with different repair abilities].
Genetika | 1999-02-01 | PMID 10495937
Sarantseva S V, Khromykh Iu M
[Effect of dunce and amnesiac genes on signal learning in Drosophila melanogaster: experiments with odors].
Genetika | 1999-02-01 | PMID 10495938
Milosevic N J
[Genetic factors of predisposition to endometriosis and response to its treatment].
Genetika | 1999-02-01 | PMID 10495940
Baranov V S, Ivashchenko T E, Shved N Iu and 8 more
Genes: GSTM1
[New models of inheritance of complex characteristics and their use in segregation analysis of idiopathic scoliosis].
Genetika | 1999-02-01 | PMID 10495942
Aksenovich T I, Zaĭdman A M, Zorkol'tseva I V and 2 more
[The plasmid carrying the temperature-sensitive mutation in the DNa-methylase gene of the PStI system: effect on host cells at nonpermissive temperature].
Genetika | 1999-05-01 | PMID 10495945
Danilevich V N, Livshits V A
[The ADH gene-enzyme system and the fitness of Drosophila melanogaster mutants].
Genetika | 1999-05-01 | PMID 10495947
Khaustova N D, Morgun S V
[Analysis of the interaction of mutations at the Drosophila melanogaster Su(mg), mod(mdg4), and su(Hw) loci].
Genetika | 1999-05-01 | PMID 10495948
Bezborodova E A, Georgiev P G
[Genetic differences in plastic responses to density between ecotypes of Arabidopsis thaliana].
Genetika | 1999-05-01 | PMID 10495950
Orbovich V, Taras'ev A
[Use of RAPD-PCR-analysis of cellular DNA for the evaluation of genetic polymorphism and subspecies diagnostics of the Far Eastern leopard Panthera pardus orientalis].
Genetika | 1999-05-01 | PMID 10495952
Chelomina G N, Spiridonova L N, Kozyrenko M M and 3 more
[Restriction polymorphism of the major non-decoding region of mitochondrial DNA in human populations from the Volga-Ural region].
Genetika | 1999-05-01 | PMID 10495954
Khusnutdinova E K, Viktorova T V, Fatkhlislamova R I and 1 more
[Frequency of embryonal lethality in various strains of Drosophila melanogaster under conditions of destabilization of microtubule apparatus and as affected by heat shock].
Genetika | 1999-05-01 | PMID 10495956
Shvartsman P Ia, Isaenko O A
Polymorphic forms of the protein L-isoaspartate (D-aspartate) O-methyltransferase involved in the repair of age-damaged proteins.
Journal of human genetics | 1999-01-01 | PMID 10496068
DeVry C G, Clarke S
Genes: PCMT1
No association between atopic asthma and a coding variant of Fc epsilon R1 beta in a Japanese population.
Journal of human genetics | 1999-01-01 | PMID 10496073
Ishizawa M, Shibasaki M, Yokouchi Y and 5 more
Mutation analysis of a Japanese patient with fucosidosis.
Journal of human genetics | 1999-01-01 | PMID 10496076
Akagi M, Inui K, Nishigaki T and 8 more
[Cytoarchitectonic abnormality in the facial nucleus of the reeler mouse].
Kaibogaku zasshi. Journal of anatomy | 1999-08-01 | PMID 10496086
Terashima T, Setsu T, Kikkawa S and 1 more
No evidence for association of multiple sclerosis with the complement factors C6 and C7.
Journal of neuroimmunology | 1999-09-01 | PMID 10496188
Chataway J, Sawcer S, Sherman D and 10 more
Familial dilated cardiomyopathy: echocardiographic diagnostic criteria for classification of family members as affected.
Journal of cardiac failure | 1999-09-01 | PMID 10496193
Hershberger R E, Ni H, Crispell K A
ApoE genotype in relation to AD and cholesterol: a study of 2,326 Chinese adults.
Neurology | 1999-09-22 | PMID 10496253
Liu H C, Hong C J, Wang S J and 4 more
Clustering of ALS patients in central Italy due to the occurrence of the L84F SOD1 gene mutation.
Neurology | 1999-09-22 | PMID 10496267
Ceroni M, Malaspina A, Poloni T E and 8 more
Genes: SOD1
No association of paraoxonase gene polymorphism with atherosclerosis or Alzheimer's disease.
Neurology | 1999-09-22 | PMID 10496287
Sodeyama N, Yamada M, Itoh Y and 4 more
c-Ki-ras mutations in colorectal adenocarcinomas from a country with a rapidly changing colorectal cancer incidence.
British journal of cancer | 1999-09-01 | PMID 10496348
Tang W Y, Elnatan J, Lee Y S and 2 more
Highly consistent genetic alterations in childhood adrenocortical tumours detected by comparative genomic hybridization.
British journal of cancer | 1999-09-01 | PMID 10496356
James L A, Kelsey A M, Birch J M and 1 more
Teratogenic response to arsenite during neurulation: relative sensitivities of C57BL/6J and SWV/Fnn mice and impact of the splotch allele.
Toxicological sciences : an official journal of the Society of Toxicology | 1999-09-01 | PMID 10496681
Machado A F, Hovland D N, Pilafas S and 1 more
Immunogenicity of outer membrane proteins in a lipopolysaccharide-deficient mutant of Neisseria meningitidis: influence of adjuvants on the immune response.
Infection and immunity | 1999-10-01 | PMID 10496868
Steeghs L, Kuipers B, Hamstra H J and 3 more
Identification of the znuA-encoded periplasmic zinc transport protein of Haemophilus ducreyi.
Infection and immunity | 1999-10-01 | PMID 10496878
Lewis D A, Klesney-Tait J, Lumbley S R and 4 more
Quorum sensing-dependent regulation and blockade of exoprotease production in Aeromonas hydrophila.
Infection and immunity | 1999-10-01 | PMID 10496895
Swift S, Lynch M J, Fish L and 4 more
Streptococcus parasanguis pepO encodes an endopeptidase with structure and activity similar to those of enzymes that modulate peptide receptor signaling in eukaryotic cells.
Infection and immunity | 1999-10-01 | PMID 10496897
Froeliger E H, Oetjen J, Bond J P and 1 more
A two-component regulatory system, CsrR-CsrS, represses expression of three Streptococcus pyogenes virulence factors, hyaluronic acid capsule, streptolysin S, and pyrogenic exotoxin B.
Infection and immunity | 1999-10-01 | PMID 10496909
Heath A, DiRita V J, Barg N L and 1 more
Phase variation in Helicobacter pylori lipopolysaccharide due to changes in the lengths of poly(C) tracts in alpha3-fucosyltransferase genes.
Infection and immunity | 1999-10-01 | PMID 10496917
Appelmelk B J, Martin S L, Monteiro M A and 10 more
Rational live oral carrier vaccine design by mutating virulence-associated genes of Yersinia enterocolitica.
Infection and immunity | 1999-10-01 | PMID 10496939
Igwe E I, Rüssmann H, Roggenkamp A and 3 more
Chlamydospore formation in Candida albicans requires the Efg1p morphogenetic regulator.
Infection and immunity | 1999-10-01 | PMID 10496941
Sonneborn A, Bockmühl D P, Ernst J F
A dileucine-based motif in the C-terminal tail of the lutropin/choriogonadotropin receptor inhibits endocytosis of the agonist-receptor complex.
Molecular pharmacology | 1999-10-01 | PMID 10496955
Nakamura K, Ascoli M
Differential modulation of agonist potency and receptor coupling by mutations of Ser388Tyr and Thr389Pro at the junction of transmembrane domain VI and the third extracellular loop of human M(1) muscarinic acetylcholine receptors.
Molecular pharmacology | 1999-10-01 | PMID 10496961
Huang X P, Williams F E, Peseckis S M and 1 more
Endothelin B receptor modulates inflammatory pain and cutaneous inflammation.
Molecular pharmacology | 1999-10-01 | PMID 10496965
Griswold D E, Douglas S A, Martin L D and 8 more
Expression in transgenic mice of dominant interfering Fas mutations: a model for human autoimmune lymphoproliferative syndrome.
Clinical immunology (Orlando, Fla.) | 1999-10-01 | PMID 10497009
Choi Y, Ramnath V R, Eaton A S and 5 more
Isolation and identification of fxsA, an Escherichia coli gene that can suppress F exclusion of bacteriophage T7.
Journal of molecular biology | 1999-09-24 | PMID 10497016
Wang W F, Cheng X, Molineux I J
Increased synthesis of an Escherichia coli membrane protein suppresses F exclusion of bacteriophage T7.
Journal of molecular biology | 1999-09-24 | PMID 10497017
Wang W F, Margolin W, Molineux I J
The hepatitis C virus internal ribosome entry site adopts an ion-dependent tertiary fold.
Journal of molecular biology | 1999-09-24 | PMID 10497018
Kieft J S, Zhou K, Jubin R and 3 more
Direct evidence that the N-terminal heptad repeat of Sendai virus fusion protein participates in membrane fusion.
Journal of molecular biology | 1999-09-24 | PMID 10497019
Ghosh J K, Shai Y
Genes: ATR
The GTP-binding domain of McrB: more than just a variation on a common theme?
Journal of molecular biology | 1999-09-24 | PMID 10497020
Pieper U, Schweitzer T, Groll D H and 2 more
Facilitation of group I splicing in vivo: misfolding of the Tetrahymena IVS and the role of ribosomal RNA exons.
Journal of molecular biology | 1999-09-24 | PMID 10497021
Nikolcheva T, Woodson S A
Ligand-linked structural changes in the Escherichia coli biotin repressor: the significance of surface loops for binding and allostery.
Journal of molecular biology | 1999-09-24 | PMID 10497026
Streaker E D, Beckett D
Prediction of potential GPI-modification sites in proprotein sequences.
Journal of molecular biology | 1999-09-24 | PMID 10497036
Eisenhaber B, Bork P, Eisenhaber F
Genes: GPI
Use of silent mutations in cDNA encoding human glutathione transferase M2-2 for optimized expression in Escherichia coli.
Protein expression and purification | 1999-10-01 | PMID 10497075
Johansson A S, Bolton-Grob R, Mannervik B
The roles of preB and B cell receptors in the stepwise allelic exclusion of mouse IgH and L chain gene loci.
Seminars in immunology | 1999-10-01 | PMID 10497085
Melchers F, ten Boekel E, Yamagami T and 2 more
Genes: BCR
Allelic exclusion in B and T lymphopoiesis.
Seminars in immunology | 1999-10-01 | PMID 10497086
Bergman Y