S. M. Povey

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S. M. Povey is affiliated with the following schools: University of Bath, University College London

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S. M. Povey

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Genetics

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#1232

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S. M. Povey's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. (1997) (1574)
Gene map of the extended human MHC (2004) (1036)
The UK10K project identifies rare variants in health and disease (2015) (926)
The Gene Ontology project in 2008 (2007) (741)
Dynamic molecular combing: stretching the whole human genome for high-resolution studies. (1997) (583)
DNA sequence and analysis of human chromosome 9 (2003) (548)
Guidelines for human gene nomenclature. (2002) (537)
Characterization of a panel of highly variable minisatellites cloned from human DNA (1987) (521)
The HUGO Gene Nomenclature Committee (HGNC) (2001) (472)
EVIDENCE THAT THE GENE FOR TUBEROUS SCLEROSIS IS ON CHROMOSOME 9 (1987) (375)
Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene. (1997) (346)
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel (2015) (296)
Two loci for Tuberous Sclerosis: one on 9q34 and one on 16p13 (1994) (268)
Genew: the Human Gene Nomenclature Database (2002) (237)
The HGNC Database in 2008: a resource for the human genome (2007) (232)
Inherited variations in human phosphohexose isomerase (1968) (230)
Tissue culture model of transitional cell carcinoma: characterization of twenty-two human urothelial cell lines. (1986) (227)
The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorder. (2000) (212)
The HUGO Gene Nomenclature Database, 2006 updates (2005) (210)
Characteristics of four new human cell lines derived from squamous cell carcinomas of the head and neck. (1985) (202)
The analysis of malignancy by cell fusion. VII. Cytogenetic analysis of hybrids between malignant and diploid cells and of tumours derived from them. (1977) (198)
Assignment of the structural gene for the third component of human complement to chromosome 19. (1982) (198)
Molecular cloning of the human Goodpasture antigen demonstrates it to be the alpha 3 chain of type IV collagen. (1992) (194)
Genetic studies on hydatidiform moles. I. The origin of partial moles. (1982) (178)
Renaming the DSCR1 / Adapt78 gene family as RCAN: regulators of calcineurin (2007) (163)
Genetic evidence that a Y-linked gene in man is homologous to a gene on the X chromosome (1983) (162)
Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma. (2000) (155)
Genew: the Human Gene Nomenclature Database, 2004 updates (2004) (155)
Systematic cloning of human minisatellites from ordered array charomid libraries. (1990) (154)
Identity of some human bladder cancer cell lines (1983) (146)
Chromosome assignment of some human enzyme loci: mitochondrial malate dehydrogenase to 7, mannosephosphate isomerase and pyruvate kinase to 15 and probably, esterase D to 13 (1975) (146)
Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia. (1995) (144)
Characterization and chromosomal mapping of a genomic clone encoding human alanine:glyoxylate aminotransferase. (1991) (136)
REPORT on the Sixth International Workshop on Chromosome 9 held at Denver, Colorado, U.S.A., 27 October 1998 (1999) (122)
The genetic basis of tuberous sclerosis. (1998) (118)
Human gene mapping using an X/autosome translocation (1976) (116)
The hypervariable gene locus PUM, which codes for the tumour associated epithelial mucins, is located on chromosome 1, within the region 1g21–24 (1987) (114)
Guidelines for human gene nomenclature (1997). HUGO Nomenclature Committee. (1997) (104)
GENETIC STUDIES OF COMPLETE AND PARTIAL HYDATIDIFORM MOLES (1979) (104)
Genetic studies on hydatidiform moles II. The origin of complete moles (1982) (100)
Human myosin heavy chain genes assigned to chromosome 17 using a human cDNA clone as probe (1985) (100)
A human X-linked antigen defined by a monoclonal antibody (1980) (99)
Production by EBV infection of an EBNA‐positive subline from an EBNA‐negative human lymphoma cell line without detectable EBV DNA (1975) (99)
Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions. (2002) (97)
Isolation of a cDNA probe for a human jejunal brush-border hydrolase, sucrase-isomaltase, and assignment of the gene locus to chromosome 3. (1987) (96)
Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations (2013) (92)
Species- and tissue-specific expression of human alpha 1-antitrypsin in transgenic mice. (1987) (90)
Activity of the ‘red cell’ acid phosphatase locus in other tissues (1973) (85)
Cloning, primary sequence, and chromosomal mapping of a human flavin-containing monooxygenase (FMO1). (1991) (84)
Duchenne muscular dystrophy in one of monozygotic twin girls. (1986) (84)
The origin of ovarian teratomas. (1984) (83)
REPORT on the Third International Workshop on Chromosome 9 (1994) (79)
Regulation of expression of liver‐specific enzymes (1982) (78)
Immunoglobulin heavy chain genes in humans are located on chromosome 14 (1981) (77)
Development of a panel of monochromosomal somatic cell hybrids for rapid gene mapping (1995) (75)
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex (2011) (74)
Mapping of the gene coding for the human liver/bone/kidney isozyme of alkaline phosphatase to chromosome 1 (1986) (74)
Cloning of the human dopamine D5 receptor gene and identification of a highly polymorphic microsatellite for the DRD5 locus that shows tight linkage to the chromosome 4p reference marker RAF1P1. (1993) (73)
HNF4 and HNF1 as well as a panel of hepatic functions are extinguished and reexpressed in parallel in chromosomally reduced rat hepatoma-human fibroblast hybrids (1993) (73)
Rapid cloning and characterization of new chromosome 10 DNA markers by Alu element-mediated PCR. (1990) (68)
A cytochrome P‐450 gene family mapped to human chromosome 19 (1985) (68)
Expression of human transferrin receptor is controlled by a gene on chromosome 3: Assignment using species specificity of a monoclonal antibody (1982) (63)
Assignment of the polymorphic intestinal mucin gene (MUC2) to chromosome 11p15 (1990) (63)
Primary structure of the human muscle acetylcholine receptor (1993) (62)
Recommendations for locus‐specific databases and their curation (2008) (59)
The Human Variome Project (2008) (59)
Genetic studies on human lymphoblastoid lines: isozyme analysis on cell lines from forty‐one different individuals and on mutants produced following exposure to a chemical mutagen (1973) (58)
A revised nomenclature for the human and rodent alpha-tubulin gene family. (2007) (57)
Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex (2013) (56)
Isolation of a human YAC contig encompassing a cluster of UGT2 genes and its regional localization to chromosome 4q13. (1994) (56)
Lactase polymorphism in adult British natives: estimating allele frequencies by enzyme assays in autopsy samples. (1982) (56)
The gene for human complement component C9 mapped to chromosome 5 by polymerase chain reaction. (1989) (56)
Chromosome assignment, biochemical and immunological studies on a human aldehyde dehydrogenase, ALDH3 (1985) (55)
Characterisation of human cell lines and differentiation from HeLa by enzyme typing (1976) (55)
Regional asssignments of the loci AK3, ACONS, and ASS on human chromosome 9. (1979) (54)
Widespread expression of human alpha 1-antitrypsin in transgenic mice revealed by in situ hybridization. (1989) (54)
Characteristics of a new human neuroblastoma cell line which differentiates in response to cyclic adenosine 3':5'-monophosphate. (1984) (53)
Regional localization of the lactase‐phlorizin hydrolase gene, LCT, to chromosome 2q21 (1993) (51)
Assignment of the human locus determining phosphoglycolate phosphatase (PGP) to chromosome 16 (1980) (51)
Cloning, primary sequence and chromosomal localization of human FMO2, a new member of the flavin-containing mono-oxygenase family. (1992) (51)
Chromosome assignment of monoclonal antibody‐defined determinants on human leukemic cells (1983) (49)
Genetic analysis of the 15;17 chromosome translocation associated with acute promyelocytic leukemia. (1983) (49)
Planning the Human Variome Project: The Spain report (2009) (48)
Assignment of the DIA1 locus to chromosome 22 (1977) (48)
Evidence for the assignment of the loci AK1, AK3 and ACONs to chromosome 9 in man (1976) (47)
Hybridization of a myeloid leukemia-derived human cell line (K562) with a human Burkitt's lymphoma line (P3HR-1). (1980) (45)
An index marker map of chromosome 9 provides strong evidence for positive interference. (1993) (44)
Mapping of human non‐muscle type cofilin (CFL1) to chromosome 11q13 and muscle‐type cofilin (CFL2) to chromosome 14 (1996) (44)
The genetics of peptidase C in man (1972) (44)
Estimating the birth prevalence and pregnancy outcomes of congenital malformations worldwide (2018) (44)
Isolation of a human cytochrome P‐450 reductase cDNA clone and localization of the corresponding gene to chromosome 7q11.2 (1989) (43)
Development of a microsatellite‐based approach to co‐segregation analysis of familial hypercholesterolaemic kindreds (1997) (43)
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity (2017) (43)
Development and characterization of cisplatin-resistant human testicular and bladder tumour cell lines. (1990) (43)
Description of a dinucleotide repeat polymorphism in the human elastin gene and its use to confirm assignment of the gene to chromosome 7 (1993) (42)
Chromosomal mapping of a human phenol UDP‐glucuronosyltransferase, GNT1 (1990) (42)
Diverse origins of multiple ovarian teratomas in a single individual. (1982) (42)
The 2014 International Workshop on Alport Syndrome (2014) (41)
A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patients (1998) (39)
Sub‐unit structure of soluble and mitochondrial malic enzyme: demonstration of human mitochondrial enzyme in human‐mouse hybrids (1975) (39)
How to catch all those mutations—the report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010 (2010) (38)
Genetic Heterogeneity in Tuberous Sclerosis. Study of a Large Collaborative Dataset a (1991) (38)
Establishment of a lymphoid cell line from leukemic cells of a patient with chronic lymphocytic leukemia (1980) (38)
Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs) (2010) (37)
HCOP: The HGNC comparison of orthology predictions search tool (2005) (37)
Biochemical and genetic analysis of the Oka blood group antigen (2004) (37)
Generation of a panel of somatic cell hybrids containing unselected fragments of human chromosome 10 by X-ray irradiation and cell fusion: Application to isolating theMEN2A region in hybrid cells (1990) (37)
PRENATAL DIAGNOSIS OF ALPHA-1-ANTITRYPSIN DEFICIENCY USING POLYMERASE CHAIN REACTION (1988) (37)
Adenylate kinases in man: evidence for a third locus (1976) (36)
Non-penetrance in tuberous sclerosis (2000) (36)
Localization of genes encoding three distinct flavin-containing monooxygenases to human chromosome 1q. (1993) (35)
Development of human chromosome-specific PCR primers for characterization of somatic cell hybrids. (1991) (35)
Localization of human flavin-containing monooxygenase genes FMO2 and FMO5 to chromosome 1q. (1996) (35)
Confirmation and further regional assignment of aminoacylase 1 (ACY‐1) on human chromosome 3 using a simplified detection method (1980) (35)
The human homolog of the mouse brown gene maps to the short arm of chromosome 9 and extends the known region of homology with mouse chromosome 4. (1991) (34)
Genetically homozygous choriocarcinoma following pregnancy with hydatidiform mole. (1988) (34)
Integration of Ecogpt and SV40 early region sequences into human chromosome 17: a dominant selection system in whole cell and microcell human‐mouse hybrids. (1983) (34)
Comparative mapping of 50 human chromosome 9 loci in the laboratory mouse. (1995) (33)
European Gene Mapping Project (EUROGEM): Genetic Maps based on the CEPH reference families (1994) (32)
A 19 bp deletion polymorphism adjacent to a dinucleotide repeat polymorphism at the human dopamine beta-hydroxylase locus. (1992) (32)
Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex (2009) (32)
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure. (2018) (31)
Human intraspecific somatic cell hybrids: A genetic and karyotypic analysis of crosses between lymphocytes and D98/AH-2 (1975) (31)
Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis (2019) (31)
Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex (2012) (31)
Chromosomal assignment of human phenol and bilirubin UDP‐glucuronosyltransferase genes (UGT1A‐subfamily) (1992) (31)
REPORT on the Fifth International Workshop on Chromosome 9 held at Eynsham, Oxfordshire, UK, September 4–6, 1996 (1997) (30)
Irradiation hybrids for human chromosome 11: characterization and use for generating region-specific markers in 11q14-q23. (1993) (29)
Localization of the Tamm‐Horsfall glycoprotein (unomodulin) gene to chromosome 16p12.3‐16p13.11 (1993) (29)
Tetraploid conceptus with three paternal contributions (2004) (29)
Report and abstracts of the Second International Workshop on Human Chromosome 9 Mapping 1993. (1993) (28)
Chromosomal disorders: estimating baseline birth prevalence and pregnancy outcomes worldwide (2017) (28)
Bladder cancer cell line cross-contamination: identification using a locus-specific minisatellite probe. (1988) (28)
REPORT on the First International Workshop on Chromosome 9 held at Girton College Cambridge, UK, 22–24 March, 1992 (1992) (27)
Assignment of tissue-type plasminogen activator to chromosome 8 in man and identification of a common restriction length polymorphism within the gene. (1984) (27)
Complete hydatidiform moles combine maternal mitochondria with a paternal nuclear genome (1984) (26)
Report of the Committee on the Genetic Constitution of Chromosome 1. (1978) (26)
Further data on mitochondrial malic enzyme in man. (1978) (26)
Localization of a bile acid UDP-glucuronosyltransferase gene (UGT2B) to chromosome 4 using the polymerase chain reaction. (1992) (26)
Assignment of the human gene for uridine 5‘‐monophosphate phosphohydrolase (UMPH2) to the long arm of chromosome 17 (1986) (25)
The major phenobarbital‐inducible cytochrome P‐450 gene subfamily (P450IIB) mapped to the long arm of human chromosome 19 (1988) (25)
Report of the committee on the genetic constitution of chromosome 2. (1988) (25)
The gene for human muscle-specific phosphoglycerate mutase, PGAM2, mapped to chromosome 7 by polymerase chain reaction. (1989) (25)
Genetics of alpha 1-antitrypsin deficiency in relation to neonatal liver disease. (1990) (24)
Frequency of heterozygous complete hydatidiform moles, estimated by locus-specific minisatellite and Y chromosome-specific probes (1989) (24)
Regional localization of polymorphic markers on chromosome 10 by physical and genetic mapping (1990) (24)
Rare single gene disorders: estimating baseline prevalence and outcomes worldwide (2018) (24)
The assignment of the genes coding for human complement components C6 and C7 to chromosome 5 (1990) (24)
Locus determining the human sperm-specific lactate dehydrogenase, LDHC, is syntenic with LDHA. (1987) (24)
Abstracts of workshop presentations (Part 13 of 13) (1985) (23)
REPORT on the Fourth International Workshop on Chromosome 9: held at Williamsburg, Virginia, USA, April 23–25, 1995 (1995) (23)
A Comparative Study on Genetic Heterogeneity in Tuberous Sclerosis: Evidence for One Gene on 9q34 and a Second Gene on 11q22–23 a (1991) (23)
A physical map of the human PI and AACT genes. (1990) (22)
Detailed haplotype analysis in Ashkenazi Jewish and non‐Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations (1999) (22)
Assignment of the gene determining human carbonic anhydrase, CAI, to chromosome 8 (1986) (22)
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume (2018) (22)
Genetic variation in antibody response and natural killer cell activity against a Moloney virus‐induced lymphoma (YAC) (1977) (22)
Regulation of expression of liver‐specific enzymes: II. Activation and chromosomal localization of soluble glutamate‐pyruvate transaminase (1982) (22)
An Attempt to Map Two Genes for Tuberous Sclerosis Using Novel Two‐Point Methods a (1991) (21)
The selection of somatic cell hybrids between human lymphoma cell lines (1976) (21)
A 1.7-megabase sequence-ready cosmid contig covering the TSC1 candidate region in 9q34. (1997) (21)
Assignment of the human nicotinic acetylcholine receptor genes: the alpha and delta subunit genes to chromosome 2 and the beta subunit gene to chromosome 17 (1990) (21)
Primary structure of the human muscle acetylcholine receptor. cDNA cloning of the gamma and epsilon subunits. (1993) (21)
Species- and tissue-specific expression o: human l-antitrypsin in transgenic mi (1987) (20)
The genetic control of natural killer cell activity and its association with in vivo resistance against a moloney lymphoma isograft (1976) (20)
Report of the committee on the genetic constitution of chromosome 2. (1989) (20)
The human alpha‐1‐antitrypsin‐related sequence gene: isolation and investigation of its expression (1988) (20)
Flow cytometry used to distinguish between complete and partial hydatidiform moles. (1987) (20)
Structure and chromosomal localization of the human 2‘,3’‐cyclic nucleotide 3‘‐phosphodiesterase gene (1992) (20)
Mapping of the gene TCF2 coding for the transcription factor LFB3 to human chromosome 17 by polymerase chain reaction. (1990) (19)
Evaluation of a transgenic mouse model for alpha‐1‐antitrypsin (AAT) related liver disease (1994) (19)
Somatic cell hybrids between human lymphoma lines. IV. Establishment and characterization of a p3HR‐1/daudi hybrid (1978) (19)
Differences in genetic stability between human cell lines from patients with and without lymphoreticular malignancy (1980) (19)
Cloning and chromosomal mapping of human cytochrome b5 reductase (DIA1) (1988) (19)
Human lymphoma-lymphoma hybrids and lymphoma-leukemia hybrids. I. Isolation, characterization, cell surface markers, and B-cell markers. (1982) (19)
Nonsense-mediated RNA decay in the TSC1 gene suggests a useful tool pre- and post-positional cloning (2002) (19)
Analysis of restriction endonuclease fragments of intracellular Epstein-Barr virus DNA and isoenzymes indicate a common origin of the Raji, NC-37, and F-265 human lymphoid cell lines. (1981) (18)
Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings (2019) (18)
Analysis of the 5'-upstream regions of the human relaxin H1 and H2 genes and their chromosomal localization on chromosome 9p24.1 by radiation hybrid and breakpoint mapping. (1999) (18)
Mapping of RXRB to human chromosome 6p21. 3 (1993) (18)
Members of the human glyceraldehyde-3-phosphate dehydrogenase-related gene family map to dispersed chromosomal locations. (1989) (18)
GENETIC RECOMBINATION BETWEEN TUBEROUS SCLEROSIS AND ONCOGENE v-abl (1988) (18)
Sharing data between LSDBs and central repositories (2009) (18)
Promoting a standard nomenclature for genes and proteins (1999) (17)
Chromosomal anomalies on 6p25 in iris hypoplasia and Axenfeld‐Rieger syndrome patients defined on a purpose‐built genomic microarray (2004) (17)
Mapping studies on human mitochondrial glutamate oxaloacetate transaminase (1982) (17)
Deficiency of malic enzyme: a possible marker for malignancy in lymphoid cells (1981) (17)
Molecular Cloning of the Human Goodpasture Antigen Demonstrates It To Be the a 3 Chain of Type IV Collagen (16)
PCR as a rapid screening method for transgenic mice. (1988) (16)
The gene for human αaL‐lactalbumin is assigned to chromosome 12q13 (1987) (16)
Confirmation of the assignment of human biliverdin reductase to chromosome 7 (1984) (16)
The gene for human muscle specific carbonic anhydrase (CA III) is assigned to chromosome 8 (1986) (16)
Cloning, experession and chromosomal localization of a member of the human cytochrome P450IIC gene sub‐family (1989) (16)
Comparison of isozymes in fetal, adult and transformed fibroblasts. (1980) (16)
Genetically determined polymorphism of a form of hexokinase, HK III, found in human leucocytes (1975) (16)
Biochemical genetic analysis of human and rodent aldehyde dehydrogenase (ALDH). (1985) (15)
Mapping our Genes. Genome Projects: How Big, How Fast? (1989) (15)
Molecular size of enzymes in Trypanosoma cruzi considered in relationship to the genetic interpretation of isozyme patterns. (1982) (15)
GENETIC STUDIES OF HYDATIDIFORM MOLES (1979) (15)
Probable assignment of the locus determining human red cell acid phosphatase ACP1 to chromosome 2 using somatic cell hybrids (1974) (15)
Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis (2016) (15)
Regulation of expression of liver‐specific enzymes: I. Detection in mammalian tissues and cultured cells (1981) (14)
Characterization of the new bladder cancer cell line HOK‐I: Expression of transitional, squamous and glandular differentiation patterns (1991) (14)
Nucleotide sequence and chromosomal assignment of a cDNA encoding the large isoform of human glutamate decarboxylase (1992) (14)
Loss of heterozygosity on chromosome arms 5q, IIp, IIq, I3q, and I6p in Human Testicular Germ Cell Tumors (1995) (14)
Localization of PEPD to the long arm of chromosome 19 (1987) (14)
Suppression and reappearance of N-tropic L virus production in somatic cell hybrids after introduction and loss of chromosomes carrying Fv-1b. (1980) (13)
Recombination hotspots and block structure of linkage disequilibrium in the human genome exemplified by detailed analysis of PGM1 on 1p31. (2004) (13)
A report on the International Nomenclature Workshop held May 1997 at the Jackson Laboratory, Bar Harbor, Maine, U.S.A. (1997) (13)
Abstracts of workshop presentations (Part 1 of 13) (1985) (13)
Mapping of the human homologs of the murine paired-box-containing genes (2004) (13)
Assignment of the locus ACONM to chromosome 22. (1978) (13)
A new alpha 1‐antitrypsin mutation, Thr–Met 85, (PI Zbristol) associated with novel electrophoretic properties (1997) (12)
Genetic studies on human lymphoblastoid cell lines: isozyme and cytogenetic heterogeneity in a cell line, with evidence for localization of the Pep A locus in man (1975) (12)
Chromosomal localisation of genes coding for human and mouse liver cytosolic cysteine dioxygenase (1996) (12)
"Major minisatellite loci" detected by minisatellite clones 33.6 and 33.15 correspond to the cognate loci D1S111 and D7S437. (1990) (12)
Integrated Radiation Hybrid and Yeast Artificial Chromosome Map of Chromosome 9p (1997) (11)
4th International Workshop on Human Gene Mapping. Report of the committee on the genetic constitution of chromosome 9. (1978) (11)
Genomic cloning and localization by FISH and linkage analysis of the human gene encoding the primary subunit NMDAR1 (GRIN1) of the NMDA receptor channel (1994) (11)
Cosmid Contigs Spanning 9q34 Including the Candidate Region for TSC1 (1995) (11)
Assignment of a human diaphorase (DIA4) to chromosome 16 (1980) (11)
Assignment of the gene for the thrid component of human complement (C3) to chromosome 19 using human mouse somatic cell hybrids (1982) (11)
Nucleus and Cytoplasm, 3rd ed (1975) (10)
THE HIGH-FREQUENCY RED-CELL ANTIGEN OKA IS CARRIED ON A SERIES OF POLYPEPTIDES OF APPARENT MOLECULAR-WEIGHT RANGING FROM 35KD TO 68KD AND IS CONTROLLED BY A GENE ON CHROMOSOME-19 (1987) (10)
Loss of heterozygosity on chromosome arms 5q, 11p, 11q, 13q, and 16p in human testicular germ cell tumors. (1995) (10)
Abstracts of meeting presentations (Part 11 of 11) (1984) (10)
Abstracts of workshop presentations (Part 9 of 13) (1985) (10)
Linkage studies on Peptidases A, B, C and D in man (1972) (10)
Chromosome 1 in relation to human disease. (1986) (10)
The gene for human neurone specific ubiquitin C‐terminal hydrolase(UCHLl, PGP9.5) maps to chromosome 4p14 (1991) (9)
Report of the committee on the genetic constitution of chromosome 9. (1990) (9)
PRIMARY STRUCTURE OF THE HUMAN MUSCLE ACETYLCHOLINE-RECEPTOR - CDNA CLONING OF THE GAMMA-SUBUNIT AND EPSILON-SUBUNIT (1993) (9)
The genes coding for phosphoenolpyruvate carboxykinase‐1 (PCK1) and neuronal nicotinic acetylcholine receptor α4 subunit (CHRNA4) map to human chromosome 20, extending the known region of homology with mouse chromosome 2 (1992) (9)
Abstracts of workshop presentations (Part 12 of 13) (1985) (9)
Cloning of the human alpha 1 antichymotrypsin gene and genetic analysis of the gene in relation to alpha 1 antitrypsin deficiency. (1988) (9)
Characterization of a continuous cell line in culture established from a Krukenberg tumour of the ovary arising from a primary gastric adenocarcinoma. (1988) (9)
The biochemical genetics of human gamma-aminobutyric acid transaminase. (1981) (8)
The mouse homologue of the human tuberous sclerosis 2 (TSC2) gene maps to chromosome 17, but does not fall within the tw18 or th20 deletions. (1995) (8)
Assignment of the genes for human mitochondrial malate dehydrogenase to chromosome 7, for mannose phosphate isomerase and pyruvate kinase to chromosome 15, and, probably, for human esterase-D to chromosome 13 using man-mouse hybrids. (1975) (8)
Cloning of the human UGT1 gene complex in yeast artificial chromosomes: novel aspects of gene structure and subchromosomal mapping to 2q37. (1997) (8)
Confirmation of the assignment of the locus determining ADA to chromosome 20 in man: data on possible synteny of ADA and ITP in human-Chinese hamster somatic cell hybrids. (1976) (8)
Short Communication A revised nomenclature for the human and rodent α-tubulin gene family (2007) (8)
The changing challenges of nomenclature (1999) (8)
α1-ANTTTRYPSIN-RELATED GENE (ATR) FOR PRENATAL DIAGNOSIS (1987) (8)
Localization of the retinoid X receptor alpha gene (RXRA) to chromosome 9q34 (1993) (8)
Report of the second international nomenclature workshop (1999) (7)
Regional mapping of chromosome 15. (1978) (7)
The expression of creatine kinase isozymes in human cultured cells (1979) (7)
Human--rat muscle somatic cell hybrids form myotubes and express human muscle gene products. (1981) (7)
Linkage relationships of peptidase-7, Pep-7, in the mouse (1983) (7)
The assignment of the human gene coding for complement C5 to chromosome 9q22‐9q33. (1988) (7)
European Gene Mapping Project (EUROGEM): Breakpoint panels for human chromosomes based on the CEPH reference families (1996) (7)
Mouse-Human Somatic Cell Hybrids: Loss of Mouse and Human Chromosomes (1998) (7)
CROSSFIND: Software for detecting and displaying well‐characterised meiotic breakpoints in human family data (1996) (6)
Chromosomal localization of a cytochrome b5 gene to human chromosome 18 and a cytochrome b5 pseudogene to the X chromosome. (1991) (6)
Adenylate kinase and aconitase in human-rodent somatic cell hybrids. (1976) (6)
Regional localization of 64 cosmid contigs, including 18 genes and 14 markers, to intervals on human chromosome 9q34. (1995) (6)
Report of the Second International Nomenclature Workshop. Cambridge, United Kingdom, May 1-2, 1999. (1999) (6)
Prenatal diagnosis of alpha‐1‐antitrypsin deficiency by PCR of linked polymorphisms: A study of 17 cases (1992) (6)
Extensive founder effect for distal renal tubular acidosis (dRTA) with sensorineural deafness in an isolated South American population (2008) (6)
Abstracts of meeting presentations (Part 2 of 11) (1982) (6)
The alpha subunit of cytochrome b-245 mapped to chromosome 16. (1990) (6)
cDNA and Genomic Clones Encoding the Human Muscle Acetylcholine Receptor (1993) (6)
Abstracts of workshop presentations pp. 1040-1056 (1989) (6)
A 1q translocation family segregating for peptidase C. (1978) (6)
Smelling of roses? (2002) (6)
Immunoglobulin heavy chain genes in humans are located on chromosome. (1981) (5)
Abstracts of meeting presentations (Part 10 of 11) (1984) (5)
Report of the Committee on the Genetic Constitution of Chromosomes 1 and 2. (1985) (5)
Association of herpes simplex thymidine kinase gene with chromosome No. 18 in transformed human cells. (1980) (5)
Loss of heterozygosity in hypotriploid cell cultures from testicular tumours (1987) (5)
Abstracts of workshop presentations pp. 1023-1039 (1989) (5)
Abstracts of workshop presentations pp. 948-967 (1989) (5)
Assignment of the human gene for β‐glycerol phosphatase to chromosome 8 (1986) (5)
Abstracts of meeting presentations (Part 8 of 11) (1984) (5)
Report and abstracts of the Third International Workshop on Chromosome 9. Cambridge, United Kingdom, 9-11 April, 1994. (1994) (5)
Abstracts of workshop presentations pp. 1057-1074 (1989) (4)
Alloimmune interactions of a lymphoproliferative disease-inducer gene Arp and linkage to Pep-7 (2004) (4)
Summary of Human Gene Map, New Haven, HGM – 1, 1973, ‘Data 1' (1989) (4)
Hemochromatosis gene nomenclature. (2000) (4)
Localisation of human peptidase-A structural locus from studies on a cultured lymphoblastoid line (1975) (4)
ANOTHER RED-CELL SURFACE-ANTIGEN, OKA, IS ENCODED BY A GENE ON CHROMOSOME-19 (1987) (4)
The polymorphic human DNA sequence D8S8 assigned to 8ql3‐21.1, close to the carbonic anhydrase gene cluster, by isotopic and non‐isotopic in situ hybridization and by linkage analysis (1990) (4)
Mouse Genetics & Transgenics: A Practical Approach (1998) (3)
Report and abstracts of the Sixth International Workshop on chromosome 9. (1999) (3)
Detection after electrophoresis of enzymes involved in ammonia metabolism using L-glutamate dehydrogenase as a linking enzyme (1977) (3)
Abstracts of workshop presentations pp. 1075-1091 (1989) (3)
The human chorionic gonadotrophin alpha subunit gene in gestational trophoblastic disease. 1. Restriction fragment length polymorphisms in hydatidiform moles. (1987) (3)
Mapping ESTs to the TSC1 candidate interval by use of the ‘Science 96’ transcript map (1997) (3)
Persistent severe polyuria after renal transplant (2015) (3)
Community Nomenclature: Standardized Gene Symbols (2002) (3)
The EUROGEM map of human chromosome 14. (1994) (3)
The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease (2015) (3)
Abstracts of workshop presentations (Part 11 of 13) (1985) (3)
An arbitrary single copy DNA sequence VC85 [D1S85] detects a 500 bp insertion/deletion polymorphism on chromosome 1. (1989) (3)
Report on the 1996 International chromosome 9 workshop (1997) (2)
HPRT mutants (1977) (2)
Abstracts of workshop presentations (Part 4 of 13) (1985) (2)
Abstracts of workshop presentations pp. 1106-1116 (1989) (2)
Fusion of rous‐sarcoma‐virus‐transformed rat cells to morphologically normal human or rat cells results in transcriptional suppression of the provirus that depends on its chromosomal integration site (1990) (2)
Assignment of the genes for human mitochondrial malate dehydrogenase to chromosome 7, for mannose phosphate isomerase and pyruvate kinase to chromosome 15, and, probably, for human esterase-D to chromosome 13 using man-mouse hybrids. (1975) (2)
Mutation Databases for Inherited Renal Disease: Are They Complete, Accurate, Clinically Relevant, and Freely Available? (2014) (2)
Immunochemical characterization of lactase in subcellular fractions of human jejunal enterocytes (1985) (2)
SPECIES-SPECIFIC AND TISSUE-SPECIFIC EXPRESSION OF HUMAN ALPHA1-ANTITRYPSIN IN TRANSGENIC MICE (1987) (2)
Novel intragenic polymorphisms in the tuberous sclerosis 2 (TSC2) gene. Mutations in brief no. 184. Online. (1998) (2)
Macrophage presentation of endogenous self-protein: the MHC class II presentation pathway is not accessible to intracellular C5 or alpha 1-antitrypsin. (1996) (2)
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity (2017) (2)
Breast cancer patients use of a touch screen in the day treatment area to record toxicity, health state and quality of life - A 12 month experience (2001) (2)
Assignment of the locus determining inorganic pyrophosphatase to chromosome 10 in man. (1976) (2)
Report and abstracts of the First International Workshop on Chromosome 9. Held at Girton College Cambridge, UK, 22-24 March, 1992. (1992) (2)
Confirmation of the assignment of the locus determining ADA to chromosome 20 in man: data on possible synteny of ADA and ITP in human-Chinese hamster somatic cell hybrids. (1976) (2)
Altered red cell anion exchanger (Band 3, AE1) associated with familial distal renal tubular acidosis. (1996) (2)
Loss of heterozygous DNA markers in testicular tumours (1991) (2)
Corrigendum to "A revised nomenclature for the human and rodent α-tubulin gene family" [Genomics 90 (2007) 285-289] (DOI:10.1016/j.ygeno.2007.04.008) (2009) (2)
Somatic Cell Hybrids: The Basics (1995) (2)
THE GENES ENCODING THE FLAVIN-CONTAINING MONOOXYGENASES FMO1 AND FMO2 ARE LOCATED ON HUMAN CHROMOSOME-1Q (1991) (2)
Human and Mouse Gene Nomenclature (2003) (1)
Nonsense-mediated mRNA decay - useful to the geneticist as well as to the cell? (1999) (1)
Erratum: Prenatal diagnosis of alpha-1-antitrypsin deficiency by PCR of linked polymorphisms: A study of 17 cases (Prenatal diagnosis (1992) 12 (235-240)) (1993) (1)
Abstracts of workshop presentations (Part 7 of 13) (1985) (1)
Abstracts of workshop presentations (Part 6 of 13) (1985) (1)
An arbitrary single copy DNA sequence VC85 [D1S85] detects a 500 bp insertion/deletion polymorphism on chromosome 1. (1989) (1)
An arbitrary single copy sequence VC64 [D1S86] detects a moderate frequency TaqI RFLP on chromosome 1]. (1989) (1)
Problems of nomenclature (1997) (1)
The EUROGEM map of human chromosome 9. (1994) (1)
A new marker on chromosome 15, D15S74, detects three RFLPs. (1989) (1)
Abstracts of workshop presentations (Part 2 of 13) (1985) (1)
EagI andNotI linking clones from human chromosomes 11 and Xp (1996) (1)
Cloning of the human a , antichymotrypsin gene and genetic analysis of the gene in relation to ( Y 1 antitrypsin deficiency (1)
Molecular genetics research in sub-Saharan Africa: how can the international community help? (2014) (1)
Abstracts of meeting presentations (Part 9 of 11) (1984) (1)
HUGO's midlife crisis: life begins at 40 (1998) (1)
Abstracts of meeting presentations (Part 6 of 11) (1984) (1)
Hybridization between a human epithelial line, infectable by Epstein‐Barr virus, and burkitt lymphoma lines: Membrane properties, superinfectability, inducibility and tumorigenicity (1982) (1)
Adenylate kinase and aconitase in human-rodent somatic cell hybrids. (1976) (1)
Assignment of the human gene for beta-glycerol phosphatase to chromosome 8. (1986) (1)
Assignment of the locus determining inorganic pyrophosphatase to chromosome 10 in man. (1976) (1)
The use of polymorphic enzyme markers of human blood cells in genetics. (1981) (1)
Alpha 1-antitrypsin-related gene (ATR) for prenatal diagnosis. (1987) (1)
Abstracts of workshop presentations (Part 5 of 13) (1985) (1)
Contents Vol. 55, 1990 (1990) (1)
The EUROGEM map of human chromosome 11. (1994) (1)
Theorigin ofovarian teratomas (1984) (1)
Factors affecting the expression of genes on chromosome 9. (1978) (1)
A comparative study of the age-related patterns of decay of some nucleoside monophosphate kinases in human red cells (1978) (1)
ABO genotyping of complete hydatidiform moles. (1993) (1)
The gene for human neuron specific ubiquitin carboxyl terminal hydrolase maps to chromosome 4p14 (1991) (1)
Phyllis J. McAlpine, Ph.D., 1941–98: In Memoriam (1999) (1)
A new anonymous marker on chromosome 7, D7S420, identifies a PvuII RFLP. (1989) (1)
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume (2019) (1)
A note on the use of HGML LIT literature file numbers (1989) (0)
GENE MAPPING USING OVARIAN TERATOMAS (1977) (0)
An arbitrary single copy human DNA sequence VC63 [D4S129] detects a TaqI RFLP on chromosome 4. (1989) (0)
HUMOT: Human and Mouse Orthologous Gene Nomenclature (2006) (0)
Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex (2013) (0)
The Nomenclature Conscience (1998) (0)
Detection of a 3 allele AvaII RFLP by a single copy anonymous DNA sequence VC75 [D7S404] localized to chromosome 7. (1989) (0)
Chimeras in Developmental Biology (1986) (0)
Use of meiotic breakpoint panel to map markers into the interval between D9S60 and ABL. (1997) (0)
Advances in Human Genetics (1987) (0)
Reply to Genetics without frontiers (1998) (0)
REPORT ON THE 3RD INTERNATIONAL WORKSHOP ON CHROMOSOME-9 AND ON TUBEROUS SCLEROSIS HELD AT QUEENS COLLEGE, CAMBRIDGE, UK, 9-11 APRIL AND 12 APRIL 1994 (1994) (0)
Disordered defensins perplexing polymerases (2002) (0)
Expression and Characterization of Leucocyte Antigens (1984) (0)
Virtual gene nomenclature: making the most of the genomic sequence (2004) (0)
Gene symbols: Making sense of the sequenced Genome (2000) (0)
Clinical application of a high resolution genomic microarray: detection of 6p25 deletions and duplications in patients with eye anomalies. (2002) (0)
Abstracts of meeting presentations (Part 7 of 11) (1984) (0)
A new marker on chromosome 4q, D4S138, detects two RFLPs. (1989) (0)
Liver-specific enzymes in human fibroblast x rat hepatoma somatic cell hybrids. (1983) (0)
Perspectives in human linkage studies (2020) (0)
The Use of the Polymerase Chain Reaction in the Mapping of Human Genes Using Somatic Cell Hybrids (1991) (0)
Rare single gene disorders: estimating baseline prevalence and outcomes worldwide (2018) (0)
Association of the herpes simplex-1 viral gene for thymidine kinase with the human gene for adenylate kinase-1 in biochemically transformed cells (1980) (0)
Universitet Low-frequency variation in TP 53 has large effects on head circumference and intracranial (2019) (0)
Prenatal diagnosis of alpha-1-antitrypsin deficiency by PCR of linked polymorphisms: a study of 17 cases. (1992) (0)
Ovalocytosis: Heterozygosity and phenotypes (2003) (0)
Genetic and physical mapping in the distal portion of chromosome 9p - Toward a more detailed and reliable map of the region. (1997) (0)
An anonymous single copy probe, D3S153, detects an SstI RFLP. (1989) (0)
Genetics without frontiers - Reply (1998) (0)
A high frequency two allele TaqI RFLP detected by an anonymous sequence VC61 [D2S65] on chromosome 2. (1989) (0)
Linkage disequilibrium mapping in a 1 Mb region of 9q34 using different populations. (2000) (0)
Dominantly inherited distal renal tubular acidosis (dRTA) is associated with mutations in the red cell anion exchanger (BAND 3, AE1) gene. (1997) (0)
From ABC to ZNF, gene nomenclature and functional annotation. (2003) (0)
Detailed haplotype analysis in Ashkenazi Jews and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence of two new founder mutations (1999) (0)
MAPPING OF THE ALU-PCR CLONES DERIVED FROM X-IRRADIATION REDUCED HYBRIDS THAT ENCOMPASS CHROMOSOME-11Q22-23 (1991) (0)
Subject index Vol. 40, 1985 (1985) (0)
Abstracts of workshop presentations pp. 1006-1022 (1989) (0)
Size of deletions in patients with the TSC/PKD phenotype determined by dynamic molecular combing and FISH. (1997) (0)
Subject Index, Vol. 28, 1978 (1978) (0)
Nomenclature: Genes, Weights and Measures, Animals, Elements, and Planets (2000) (0)
DNA Fingerprinting: Approaches and Applications (1992) (0)
SHORT COMMUNICATION The a! Subunit of Cytochrome b_,,, Mapped to Chromosome 16 (1990) (0)
E. B. Robson, PhD (1928- 2016). Galton Professor of Human Genetics, University College London and Editor-in-Chief of the Annals of Human Genetics, died July 18th 2016. (2017) (0)
Abstracts of meeting presentations (Part 4 of 11) (1979) (0)
An arbitrary single copy sequence VC64 [D1S86] detects a moderate frequency TaqI RFLP on chromosome 1. (1989) (0)
Index by Abstract Number (1989) (0)
Abstracts of workshop presentations (Part 10 of 13) (1985) (0)
Title : Sharing data between LSDBs and central repositories (0)
Subject Index Vol. 22, 1978 (1978) (0)
UK 10 K Consortium (2019) (0)
A high frequency two allele TaqI RFLP detected by an anonymous sequence VC61 [D2S65] on chromosome 2. (1989) (0)
II , 179-185 ( 1993 ) ABO GENOTYPING OF COMPLETE HYDATIDIFORM MOLES (2014) (0)
References to the committee reports (1975) (0)
Chromosome I in relation to human disease the normal human genome essential for suppression of hamster cell transformation (0)
Phyllis J. McAlpine, PhD, 1941-98: In memoriam - Obituary (1999) (0)
Subject Index Vol. 16, 1976 (1976) (0)
Cloning ofthehumana,antichymotrypsin gene andgenetic analysis ofthegene inrelation to (Y1antitrypsin deficiency (1988) (0)
Index by Keyword (1989) (0)
An arbitrary single copy human DNA sequence VC63 [D4S129] detects a TaqI RFLP on chromosome 4]. (1989) (0)
Paired interstitial duplications and deletions: a novel cause of ocular developmental abnormalities and glaucoma (2001) (0)
Abstracts of meeting presentations (Part 1 of 11) (1982) (0)
Detection of Tsga10 transcripts in mouse and rat testis (2003) (0)
Mutation screening for TSC1 in UK families with Tuberous Sclerosis provides an explanation for an apparent case of non-penetrance. (1997) (0)
A sequence ready contig spanning the TSC1 candidate interval on chromosome 9. (1997) (0)
Sixth International Workshop on Chromosome 9, Denver, Colorado, USA, 27 October 1998 (1999) (0)
A comparative study on genetic heterogeneity in tuberous sclerosis (1991) (0)
Contents, Vol. 28, 1978 (2004) (0)
Gene Localization by in situ Hybridization: FISH (2003) (0)
Genetics Without Frontiers (N.E. Morton) Reply (1998) (0)
Detection of a 3 allele AvaII RFLP by a single copy anonymous DNA sequence VC75 [D7S404] localized to chromosome 7. (1989) (0)
Guidelines for interpreting abbreviations and specialized phrases in committee text and tables (1989) (0)
Abstracts of workshop presentations (Part 8 of 13) (1985) (0)
Progress with FOXC1 gene dosage. (2001) (0)
Estrogen receptors in MCF-7 human × mouse L-cell hybrids (1986) (0)
Contents, Vol. 37, 1984 (1984) (0)
A new anonymous marker on chromosome 11, D11S347, detects two TaqI RFLPs. (1989) (0)

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