Low basal transcripts of the COL2A1 collagen gene from lymphoblasts show alternative splicing of exon 12 in the Kniest form of spondyloepiphyseal dysplasia.
Human mutation | 1998-01-01 | PMID 9452022
Yang W, Cole W G
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 9871 of 10600
Deletion-insertion mutation encompassing RET codon 634 is associated with medullary thyroid carcinoma.
Human mutation | 1998-01-01 | PMID 9452023
Marsh D J, Andrew S D, Learoyd D L and 3 more
Genes: RET
Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency.
Human mutation | 1998-01-01 | PMID 9452024
Shimadzu M, Matsumoto H, Matsuura T and 7 more
Genes: OTC
Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia.
Human mutation | 1998-01-01 | PMID 9452026
Loughlin J, Irven C, Mustafa Z and 6 more
Hemoglobin Phnom Penh [alpha117Phe(H1)-Ile-alpha118Thr(H2)]; evidence for a hotspot for insertion of residues in the third exon of the alpha1-globin gene.
Human mutation | 1998-01-01 | PMID 9452028
Wajcman H, Préhu M O, Préhu C and 3 more
Novel 3678delA mutation in exon 26 of the dystrophin gene causing Duchenne muscular dystrophy.
Human mutation | 1998-01-01 | PMID 9452029
Agarwal-Mawal A, Vanasse M, Simard L R
Exon 6 skipping in the Fanconi anemia C gene associated with a nonsense/missense mutation (775C-->T) in exon 5: the first example of a nonsense mutation in one exon causing skipping of another downstream.
Human mutation | 1998-01-01 | PMID 9452030
Lo Ten Foe J R, Kruyt F A, Zweekhorst M B and 5 more
A splicing mutation (891+4A-->G) in SLC3A1 leads to exon 4 skipping and causes cystinuria in a Moslem Arab family.
Human mutation | 1998-01-01 | PMID 9452031
Pras E, Golomb E, Drake C and 3 more
Two novel fibrillin-1 mutations resulting in premature termination codons but in different mutant transcript levels and clinical phenotypes.
Human mutation | 1998-01-01 | PMID 9452033
Karttunen L, Ukkonen T, Kainulainen K and 2 more
A 3-base pair insertional mutation in the choroideremia gene.
Human mutation | 1998-01-01 | PMID 9452034
Nesslinger N, Horrocks S, Ray P N and 2 more
Rhodopsin mutation G109R in a family with autosomal dominant retinitis pigmentosa.
Human mutation | 1998-01-01 | PMID 9452035
Goliath R, Bardien S, September A and 3 more
Fifteen polymorphisms in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene: diagnostic implications in Morquio disease.
Human mutation | 1998-01-01 | PMID 9452036
Tomatsu S, Fukuda S, Cooper A and 10 more
Genes: GALNS
Identification of two novel mutations (1448delA and Q682X) in the NF1 gene and analysis for nonsense mutations in patients with neurofibromatosis type 1.
Human mutation | 1998-01-01 | PMID 9452037
Horiuchi T, Hatta N, Watanabe I and 5 more
Identification of an insertion and accompanying deletion in exon 31 of the neurofibromatosis type 1 gene.
Human mutation | 1998-01-01 | PMID 9452038
Skuse G R
High frequency of a splice mutation in intron 2 of the 21-hydroxylase gene in Russia could be partly explained by a founder effect.
Human mutation | 1998-01-01 | PMID 9452039
Polyakov A V, Dzenis I G, Baharev V A and 1 more
Novel nonsense mutation in exon 15 of the APC gene in one Jewish family.
Human mutation | 1998-01-01 | PMID 9452040
Monakov O, Shemesh E, Bar-Meir S and 1 more
Genes: APC
Frequency of codon 1061 and codon 1309 APC mutations in Australian familial adenomatous polyposis patients.
Human mutation | 1998-01-01 | PMID 9452041
Schnitzler M, Koorey D, Dwight T and 4 more
Genes: APC
Mutations in the iduronate-2-sulfatase gene in 12 Spanish patients with Hunter disease.
Human mutation | 1998-01-01 | PMID 9452044
Gort L, Coll M J, Chabás A
335-base deletion in the mRNA coding for a dibasic amino acid transporter-like protein (SLC3A1) isolated from a patient with cystinuria.
Human mutation | 1998-01-01 | PMID 9452045
Gitomer W L, Reed B Y, Ruml L A and 1 more
Cys 634 mutations in the RET proto-oncogene in Spanish families affected by MEN 2A.
Human mutation | 1998-01-01 | PMID 9452046
Sánchez B, Antiñolo G, Navarro E and 4 more
Genes: RET
Comparison of expanded CAG repeat tracts in sperm and lymphocyte DNA from Machado Joseph disease and spinocerebellar ataxia type I patients.
Human mutation | 1998-01-01 | PMID 9452047
Maurer D J, Benzow K A, Schut L J and 2 more
Identification of three novel mutations in the CFTR gene, R117P, deltaD192, and 3121-1G-->A in four French patients.
Human mutation | 1998-01-01 | PMID 9452048
Feldmann D, Sardet A, Cougoureux E and 4 more
Genes: CFTR
Recurrent mutation 4882delTT in the GAP-related domain of the tuberous sclerosis TSC2 gene.
Human mutation | 1998-01-01 | PMID 9452050
Verhoef S, Vrtel R, Bakker L and 9 more
Genes: TSC2
The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations.
Human mutation | 1998-01-01 | PMID 9452051
Liu G, Aral B, Zabot M T and 2 more
Splicing mutation of presenilin-1 gene for early-onset familial Alzheimer's disease.
Human mutation | 1998-01-01 | PMID 9452052
Sato S, Kamino K, Miki T and 5 more
Déjérine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene.
Human mutation | 1998-01-01 | PMID 9452053
Bort S, Sevilla T, García-Planells J and 5 more
Genes: PMP22
Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.
Human mutation | 1998-01-01 | PMID 9452054
Casals T, Ramos M D, Giménez J and 3 more
Genes: CFTR
De novo mutation of the myelin Po gene in Déjérine-Sottas disease (hereditary motor and sensory neuropathy type III): two amino acid insertion after Asp 118.
Human mutation | 1998-01-01 | PMID 9452055
Ikegami T, Nicholson G, Ikeda H and 5 more
Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British families.
Human mutation | 1998-01-01 | PMID 9452060
Torra R, Badenas C, Peral B and 6 more
Genes: PKD1
Identification of three novel mutations in Korean phenylketonuria patients: R53H, N207D, and Y325X.
Human mutation | 1998-01-01 | PMID 9452061
Park Y S, Seoung C S, Lee S W and 3 more
Identification of seven new mutations in the phenylalanine hydroxylase gene, associated with hyperphenylalaninemia in the Belgian population.
Human mutation | 1998-01-01 | PMID 9452062
Michiels L, François B, Raus J and 1 more
Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male.
Human mutation | 1998-01-01 | PMID 9452065
Nishiyori A, Yoshino M, Tananari Y and 5 more
A novel mutation, R125X in peroxisome assembly factor-1 responsible for Zellweger syndrome.
Human mutation | 1998-01-01 | PMID 9452066
Shimozawa N, Suzuki Y, Tomatsu S and 7 more
A novel mutation (E358K) in the alpha-galactosidase A gene detected in a Japanese family with Fabry disease.
Human mutation | 1998-01-01 | PMID 9452068
Miyazaki T, Kajita M, Ohmori S and 4 more
Identification of two PAX3 mutations causing Waardenburg syndrome, one within the paired domain (M62V) and the other downstream of the homeodomain (Q282X).
Human mutation | 1998-01-01 | PMID 9452070
Hol F A, Geurds M P, Cremers C W and 2 more
Genes: PAX3
Dyslipidemias associated with heterozygous lipoprotein lipase mutations in the French-Canadian population.
Human mutation | 1998-01-01 | PMID 9452071
Julien P, Gagné C, Murthy M R and 5 more
G6PD Mount Sinai: a new severe hemolytic variant characterized by dual mutations at nucleotides 376G and 1159T (N126D).
Human mutation | 1998-01-01 | PMID 9452072
Vlachos A, Westwood B, Lipton J M and 1 more
Frequency of a DNA polymorphism at position Y231 in the aspartoacylase gene and its impact on DNA-based carrier testing for Canavan disease in the Ashkenazi Jewish Population.
Human mutation | 1998-01-01 | PMID 9452075
Alford R L, DeMarchi J M, Richards C S
Identification of three new mutations of the low density lipoprotein receptor gene in Dutch familial hypercholesterolemic patients.
Human mutation | 1998-01-01 | PMID 9452078
Lombardi P, Sijbrands E J, Kamerling S and 2 more
Two new missense mutations (P134T and A244V) in the coagulation factor VII gene.
Human mutation | 1998-01-01 | PMID 9452082
Alshinawi C, Scerri C, Galdies R and 2 more
Mutation in the 5' noncoding region of the SRY gene in an XY sex-reversed patient.
Human mutation | 1998-01-01 | PMID 9452083
Poulat F, Desclozeaux M, Tuffery S and 3 more
Genes: SRY
Identification of a novel splice-site mutation of the BRCA1 gene in two breast cancer families: screening reveals low frequency in Icelandic breast cancer patients.
Human mutation | 1998-01-01 | PMID 9452084
Bergthorsson J T, Jonasdottir A, Johannesdottir G and 7 more
Genes: BRCA1
Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype.
Human mutation | 1998-01-01 | PMID 9452085
Black C, Withers A P, Gray J R and 4 more
Genes: FBN1
Four novel and two previously reported mutations of the PAX6 gene in patients with aniridia.
Human mutation | 1998-01-01 | PMID 9452088
Saunders G F, Chao L Y
Genes: PAX6
3' Acceptor splice site mutation in intron 50 leads to mild Duchenne muscular dystrophy phenotype.
Human mutation | 1998-01-01 | PMID 9452089
Kekou K, Florentin L, Metaxotou C
Mutations of the same sequence of the myelin P0 gene causing two different phenotypes.
Human mutation | 1998-01-01 | PMID 9452091
Schiavon F, Rampazzo A, Merlini L and 2 more
Novel exonic mutation (5319 G to A) resulting in two aberrantly spliced transcripts of the ATM gene in a Japanese patient with ataxia-telangiectasia.
Human mutation | 1998-01-01 | PMID 9452093
Fukao T, Tashita H, Teramoto T and 8 more
Genes: ATM
Identification of three mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians.
Human mutation | 1998-01-01 | PMID 9452094
Couture P, Vohl M C, Gagné C and 7 more
Two novel and two known low-density lipoprotein receptor gene mutations in German patients with familial hypercholesterolemia.
Human mutation | 1998-01-01 | PMID 9452095
Thiart R, Loubser O, de Villiers J N and 4 more
New frequent mutation in the PCCB gene in Spanish propionic acidemia patients.
Human mutation | 1998-01-01 | PMID 9452096
Hoenicka J, Rodríguez-Pombo P, Pérez-Cerdá C and 3 more
Genes: PCCB
A common mutation among blacks with mut- methylmalonic aciduria.
Human mutation | 1998-01-01 | PMID 9452100
Adjalla C E, Hosack A R, Matiaszuk N V and 1 more
Two novel mutations in the arylsulfatase A gene associated with juvenile (R390Q) and adult onset (H397Y) metachromatic leukodystrophy.
Human mutation | 1998-01-01 | PMID 9452102
Coulter-Mackie M B, Gagnier L
A type III collagen Gly559 to Arg helix mutation in Ehler's-Danlos syndrome type IV.
Human mutation | 1998-01-01 | PMID 9452103
Bateman J F, Chiodo A A, Weng Y M and 2 more
Identification of four novel mutations in the factor VIII gene: three missense mutations (E1875G, G2088S, I2185T) and a 2-bp deletion (1780delTC).
Human mutation | 1998-01-01 | PMID 9452104
Tavassoli K, Eigel A, Dworniczak B and 2 more
Hypophosphatasia: Identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients
1998-01-01 | PMID 9452105
Three novel mutations in the Von Hippel-Lindau tumour suppressor gene in Italian patients.
Human mutation | 1998-01-01 | PMID 9452106
Mandich P, Montera M, Bellone E and 3 more
Mutational analyses of AVPR2 gene in three Japanese families with X-linked nephrogenic diabetes insipidus: two recurrent mutations, R137H and deltaV278, caused by the hypermutability at CpG dinucleotides.
Human mutation | 1998-01-01 | PMID 9452109
Shoji Y, Takahashi T, Suzuki Y and 7 more
Genes: AVPR2
Evidence for somatic and germline mosaicism in CRASH syndrome.
Human mutation | 1998-01-01 | PMID 9452110
Vits L, Chitayat D, Van Camp G and 3 more
Mutation analysis in 11 French patients with Fabry disease.
Human mutation | 1998-01-01 | PMID 9452111
Guffon N, Froissart R, Chevalier-Porst F and 1 more
Rhodopsin splice site sequence changes in retinitis pigmentosa and their effect at the mRNA level.
Human mutation | 1998-01-01 | PMID 9452113
Whitehead J L, Bell C, Converse C A and 2 more
Five novel factor IX mutations in unrelated hemophilia B patients.
Human mutation | 1998-01-01 | PMID 9452115
David D, Moreira I, Morais S and 1 more
Possible common mutations in the low density lipoprotein receptor gene in Chinese.
Human mutation | 1998-01-01 | PMID 9452118
Mak Y T, Zhang J, Chan Y S and 4 more
Two novel mutations in exons 5 and 15 of the adenomatous polyposis coli (APC) gene.
Human mutation | 1998-01-01 | PMID 9452119
Delatycki M, Nasioulas S, Forshaw K and 1 more
Genes: APC
Two Indian siblings with Oguchi disease are homozygous for an arrestin mutation encoding premature termination.
Human mutation | 1998-01-01 | PMID 9452120
Maw M, Kumaramanickavel G, Kar B and 3 more
Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population.
Human mutation | 1998-01-01 | PMID 9452121
Yamaguchi A, Matsuura A, Arashima S and 2 more
Evidence of an association between 6q13-21 chromosome aberrations and locally aggressive behavior in patients with cartilage tumors
1998-02-01 | PMID 9452264
Molecular evolution of dengue type 2 virus in Thailand.
1998-01-01 | PMID 9452299
Simplified polymerase chain reaction detection of new world Leishmania in clinical specimens of cutaneous leishmaniasis.
1998-01-01 | PMID 9452300
The Expression and Modulation of IFN-α and IFN-β in Human Keratinocytes
1997-12-01 | PMID 9452359
Expansion and Length-Dependent Fragility of CTG Repeats in Yeast
1998-02-06 | PMID 9452383
What Makes Cryptococcus neoformans a Pathogen?
1998-03-01 | PMID 9452400
Dexamethasone Rapidly Induces a Novel Ras Superfamily Member-related Gene in AtT-20 Cells
1998-02-01 | PMID 9452419
Requirement of Src Kinase Lyn for Induction of DNA Synthesis by Granulocyte Colony-stimulating Factor
1998-02-01 | PMID 9452436
p38 and Extracellular Signal-regulated Kinase Mitogen-activated Protein Kinase Pathways Are Required for Nuclear Factor-κB p65 Transactivation Mediated by Tumor Necrosis Factor
1998-02-01 | PMID 9452444
Isolation of a cDNA Encoding a Novel Member of the Transglutaminase Gene Family from Human Keratinocytes
1998-02-01 | PMID 9452468
A Promoter Recruitment Mechanism for Tumor Necrosis Factor-α-induced Interleukin-8 Transcription in Type II Pulmonary Epithelial Cells
1998-02-01 | PMID 9452482
X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations.
Kidney international | 1998-01-01 | PMID 9452994
Scheinman S J
Liddle syndrome: an autosomal dominant form of human hypertension.
Kidney international | 1998-01-01 | PMID 9452995
Warnock D G
Homologous challenge of porcine reproductive and respiratory syndrome virus immunity in pregnant swine
1997-11-01 | PMID 9453123
Duration of homologous porcine reproductive and respiratory syndrome virus immunity in pregnant swine
1997-11-01 | PMID 9453124
Identification of mycobacteria infecting fish to the species level using polymerase chain reaction and restriction enzyme analysis
1997-11-01 | PMID 9453133
Short Communication : Unique HIV Type 1 V3 Region Sequences Derived from Six Different Regions of Brain: Region-Specific Evolution within Host-Determined Quasispecies
1998-01-01 | PMID 9453248
Genetic determination of susceptibility and resistance in the pathogenesis of Candida albicans infection.
FEMS immunology and medical microbiology | 1997-11-01 | PMID 9453388
Ashman R B
Compartmental Localization of Complement Component Transcripts in the Normal Human Kidney
1997-12-19 | PMID 9453398
Population Structure of the Relapsing Fever Spirochete Borrelia hermsii as Indicated by Polymorphism of Two Multigene Families That Encode Immunogenic Outer Surface Lipoproteins
1998-02-01 | PMID 9453591
Changes in Expression of Signal Transduction Proteins in T Lymphocytes of Patients with Leprosy
1998-02-01 | PMID 9453602
Diffusely Adhering Escherichia coli Strains Induce Attaching and Effacing Phenotypes and Secrete Homologs of Esp Proteins
1998-02-01 | PMID 9453606
Polymorphism in the <i>Bordetella pertussis</i> Virulence Factors P.69/Pertactin and Pertussis Toxin in The Netherlands: Temporal Trends and Evidence for Vaccine-Driven Evolution
1998-02-01 | PMID 9453625
Enterococcus faecalis Localization in Experimental Endophthalmitis: Role of Plasmid-Encoded Aggregation Substance
1998-02-01 | PMID 9453653
Siderophore Production by Cystic Fibrosis Isolates of <i>Burkholderia cepacia</i>
1998-02-01 | PMID 9453660
[Individual susceptibility factors in the risk of lung cancer].
Annales de pathologie | 1997-01-01 | PMID 9453718
Stücker I
[Molecular models of disease. Transgenes and knockout].
Deutsche medizinische Wochenschrift (1946) | 1997-12-05 | PMID 9453919
Moradpour D
[Polymorphism of the dinucleotide repeat inside the aldose reductase gene in normal states and in patients with insulin-dependent diabetes mellitus with vascular complications].
Molekuliarnaia biologiia | 2000-01-01 | PMID 9454059
Chistiakov D A, Turakulov R I, Girashko N M and 7 more
[Analysis of allelic loss in the area of the short arm of chromosome 3 in carcinomas of the kidney, uterus and ovaries using tri- and tetrameric markers].
Molekuliarnaia biologiia | 2000-01-01 | PMID 9454064
Bazov I V, Aksenova M G, Kazubskaia T P and 3 more
[Search for sites containing functionally important substitutions in series of related or mutant proteins].
Molekuliarnaia biologiia | 2000-01-01 | PMID 9454074
Ivanisenko V A, Eroshkin A M
Telomeres and Senescence: Ending the Debate
1998-01-16 | PMID 9454329
Hematologically important mutations: X-linked chronic granulomatous disease--an update.
Blood cells, molecules & diseases | 1997-12-01 | PMID 9454688
Heyworth P G, Curnutte J T, Noack D and 1 more
Comparison of Sindbis Virus-Induced Pathology in Mosquito and Vertebrate Cell Cultures
1998-01-01 | PMID 9454692
Antigenic Sites of Coxsackievirus A9
1998-01-01 | PMID 9454693
Epstein-Barr Virus (EBV) in Endemic Burkitt's Lymphoma: Molecular Analysis of Primary Tumor Tissue
1998-02-15 | PMID 9454768