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Robert Richards
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Network (preview)
18
Callen, David
12
Mulley, John
9
Baker, Elizabeth
9
Doggett, Norman
8
Mangelsdorf, Marie
7
Sutherland, Grant
6
Hobson, Lynne
6
Dayan, Sonia
5
Aksentijevich, Ivona
5
Woollatt, Erica
4
Chen, Xian
4
Gedeon, Agi
4
Venter, Deon
4
Phillips, Hilary
4
Pras, Elon
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All Publications
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2007: Lumsden Amanda L; Henshall Tanya L; Dayan Sonia; Lardelli Michael T; Richards Robert I
Huntingtin-deficient zebrafish exhibit defects in iron utilization and development.
Human molecular genetics 2007;16(16):1905-20.
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2007: O'Keefe Louise V; Smibert Peter; Colella Alex; Chataway Tim K; Saint Robert; Richards Robert I
Know thy fly.
Trends in genetics : TIG 2007;23(5):238-42.
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2006: Tucker Ben; Richards Robert I; Lardelli Michael
Contribution of mGluR and Fmr1 functional pathways to neurite morphogenesis, craniofacial development and fragile X syndrome.
Human molecular genetics 2006;15(23):3446-58.
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2006: O'Keefe Louise V; Richards Robert I
Common chromosomal fragile sites and cancer: focus on FRA16D.
Cancer letters 2006;232(1):37-47.
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2005: Miksch Sara; Lumsden Amanda; Guenther Ulf P; Foernzler Dorothee; Christen-Zäch Stéphanie; Daugherty Carol; Ramesar Raj Kumar S; Lebwohl Mark; Hohl Daniel; Neldner Kenneth H; Lindpaintner Klaus; Richards Robert I; Struk Berthold
Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.
Human mutation 2005;26(3):235-48.
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2005: O'Keefe Louise V; Liu Yinghong; Perkins Alison; Dayan Sonia; Saint Robert; Richards Robert I
FRA16D common chromosomal fragile site oxido-reductase (FOR/WWOX) protects against the effects of ionizing radiation in Drosophila.
Oncogene 2005;24(43):6590-6.
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2005: Finnis Merran; Dayan Sonia; Hobson Lynne; Chenevix-Trench Georgia; Friend Kathryn; Ried Karin; Venter Deon; Woollatt Erica; Baker Elizabeth; Richards Robert I
Common chromosomal fragile site FRA16D mutation in cancer cells.
Human molecular genetics 2005;14(10):1341-9.
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2005: McLeod Catherine J; O'Keefe Louise V; Richards Robert I
The pathogenic agent in Drosophila models of 'polyglutamine' diseases.
Human molecular genetics 2005;14(8):1041-8.
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2004: Dudding T E; Friend K; Schofield P W; Lee S; Wilkinson I A; Richards R I
Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus.
Neurology 2004;63(12):2288-92.
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2001: Richards R I
Dynamic mutations: a decade of unstable expanded repeats in human genetic disease.
Human molecular genetics 2001;10(20):2187-94.
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2001: Cai L; Lumsden A; Guenther U P; Neldner S A; Zäch S; Knoblauch H; Ramesar R; Hohl D; Callen D F; Neldner K H; Lindpaintner K; Richards R I; Struk B
A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum.
Journal of molecular medicine (Berlin, Germany) 2001;79(9):536-46.
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2001: Richards R I
Fragile and unstable chromosomes in cancer: causes and consequences.
Trends in genetics : TIG 2001;17(6):339-45.
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2000: Ried K; Finnis M; Hobson L; Mangelsdorf M; Dayan S; Nancarrow J K; Woollatt E; Kremmidiotis G; Gardner A; Venter D; Baker E; Richards R I
Common chromosomal fragile site FRA16D sequence: identification of the FOR gene spanning FRA16D and homozygous deletions and translocation breakpoints in cancer cells.
Human molecular genetics 2000;9(11):1651-63.
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2000: Handt O; Sutherland G R; Richards R I
Fragile sites and minisatellite repeat instability.
Molecular genetics and metabolism 2000;70(2):99-105.
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2000: Mangelsdorf M; Ried K; Woollatt E; Dayan S; Eyre H; Finnis M; Hobson L; Nancarrow J; Venter D; Baker E; Richards R I
Chromosomal fragile site FRA16D and DNA instability in cancer.
Cancer research 2000;60(6):1683-9.
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2000: Handt O; Baker E; Dayan S; Gartler S M; Woollatt E; Richards R I; Hansen R S
Analysis of replication timing at the FRA10B and FRA16B fragile site loci.
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 2000;8(8):677-88.
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1999: Friend K L; Crimmins D; Phan T G; Sue C M; Colley A; Fung V S; Morris J G; Sutherland G R; Richards R I
Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM.
Human genetics 1999;105(3):261-5.
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1999: Sutherland G R; Richards R I
Fragile sites-cytogenetic similarity with molecular diversity.
American journal of human genetics 1999;64(2):354-9.
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1998: Sutherland G R; Baker E; Richards R I
Fragile sites still breaking.
Trends in genetics : TIG 1998;14(12):501-6.
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1998: Centola M; Chen X; Sood R; Deng Z; Aksentijevich I; Blake T; Ricke D O; Chen X; Wood G; Zaks N; Richards N; Krizman D; Mansfield E; Apostolou S; Liu J; Shafran N; Vedula A; Hamon M; Cercek A; Kahan T; Gumucio D; Callen D F; Richards R I; Moyzis R K; Doggett N A; Collins F S; Liu P P; Fischel-Ghodsian N; Kastner D L
Construction of an approximately 700-kb transcript map around the familial Mediterranean fever locus on human chromosome 16p13.3.
Genome research 1998;8(11):1172-91.
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1998: Benson K F; Horwitz M; Wolff J; Friend K; Thompson E; White S; Richards R I; Raskind W H; Bird T D
CAG repeat expansion in autosomal dominant familial spastic paraparesis: novel expansion in a subset of patients.
Human molecular genetics 1998;7(11):1779-86.
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1998: Hewett D R; Handt O; Hobson L; Mangelsdorf M; Eyre H J; Baker E; Sutherland G R; Schuffenhauer S; Mao J I; Richards R I
FRA10B structure reveals common elements in repeat expansion and chromosomal fragile site genesis.
Molecular cell 1998;1(6):773-81.
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1997: Richards R I; Sutherland G R
Dynamic mutation: possible mechanisms and significance in human disease.
Trends in biochemical sciences 1997;22(11):432-6.
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1997: Horwitz M; Benson K F; Li F Q; Wolff J; Leppert M F; Hobson L; Mangelsdorf M; Yu S; Hewett D; Richards R I; Raskind W H
Genetic heterogeneity in familial acute myelogenous leukemia: evidence for a second locus at chromosome 16q21-23.2.
American journal of human genetics 1997;61(4):873-81.
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1997: Somers G R; Hammet F; Woollatt E; Richards R I; Southey M C; Venter D J
Chromosomal localization of the human P2y6 purinoceptor gene and phylogenetic analysis of the P2y purinoceptor family.
Genomics 1997;44(1):127-30.
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1997: Sood R; Blake T; Aksentijevich I; Wood G; Chen X; Gardner D; Shelton D A; Mangelsdorf M; Orsborn A; Pras E; Balow J E; Centola M; Deng Z; Zaks N; Chen X; Richards N; Fischel-Ghodsian N; Rotter J I; Pras M; Shohat M; Deaven L L; Gumucio D L; Callen D F; Richards R I; Doggett N A
Construction of a 1-Mb restriction-mapped cosmid contig containing the candidate region for the familial Mediterranean fever locus (MEFV) on chromosome 16p 13.3.
Genomics 1997;42(1):83-95.
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1997: Narahara K; Baker E; Ito S; Yokoyama Y; Yu S; Hewitt D; Sutherland G R; Eccles M R; Richards R I
Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease.
Journal of medical genetics 1997;34(3):213-6.
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1997: Yu S; Mangelsdorf M; Hewett D; Hobson L; Baker E; Eyre H J; Lapsys N; Le Paslier D; Doggett N A; Sutherland G R; Richards R I
Human chromosomal fragile site FRA16B is an amplified AT-rich minisatellite repeat.
Cell 1997;88(3):367-74.
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1996: Richards R I; Crawford J; Narahara K; Mangelsdorf M; Friend K; Staples A; Denton M; Easteal S; Hori T A; Kondo I; Jenkins T; Goldman A; Panich V; Ferakova E; Sutherland G R
Dynamic mutation loci: allele distributions in different populations.
Annals of human genetics 1996;60(Pt 5):391-400.
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1996: Levy E N; Shen Y; Kupelian A; Kruglyak L; Aksentijevich I; Pras E; Balow J E; Linzer B; Chen X; Shelton D A; Gumucio D; Pras M; Shohat M; Rotter J I; Fischel-Ghodsian N; Richards R I; Kastner D L
Linkage disequilibrium mapping places the gene causing familial Mediterranean fever close to D16S246.
American journal of human genetics 1996;58(3):523-34.
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1996: Sutherland G R; Richards R I
Unusual inheritance patterns due to dynamic mutation in fragile X syndrome.
Ciba Foundation symposium 1996;197():119-26; discussion 126-36.
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1996: Richards R I; Sutherland G R
Repeat offenders: simple repeat sequences and complex genetic problems.
Human mutation 1996;8(1):1-7.
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1995: Sutherland G R; Richards R I
The molecular basis of fragile sites in human chromosomes.
Current opinion in genetics & development 1995;5(3):323-7.
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1995: Sutherland G R; Richards R I
Simple tandem DNA repeats and human genetic disease.
Proceedings of the National Academy of Sciences of the United States of America 1995;92(9):3636-41.
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1995: Nancarrow J K; Holman K; Mangelsdorf M; Hori T; Denton M; Sutherland G R; Richards R I
Molecular basis of p(CCG)n repeat instability at the FRA16A fragile site locus.
Human molecular genetics 1995;4(3):367-72.
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1995: Sutherland G R; Richards R I
Fragile X syndrome and other dynamic mutation diseases.
The Southeast Asian journal of tropical medicine and public health 1995;26 Suppl 1():77-85.
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1994: Richards R I; Kondo I; Holman K; Yamauchi M; Seki N; Kishi K; Staples A; Sutherland G R; Hori T
Haplotype analysis at the FRAXA locus in the Japanese population.
American journal of medical genetics 1994;51(4):412-6.
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1994: Nancarrow J K; Kremer E; Holman K; Eyre H; Doggett N A; Le Paslier D; Callen D F; Sutherland G R; Richards R I
Implications of FRA16A structure for the mechanism of chromosomal fragile site genesis.
Science (New York, N.Y.) 1994;264(5167):1938-41.
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1994: Richards R I; Holman K; Friend K; Staples A; Sutherland G R; Oudet C; Biancalana V; Mandel J L
FRAXAC2 instability.
Nature genetics 1994;7(2):122; author reply 123.
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1994: Donnelly A; Kozman H; Gedeon A K; Webb S; Lynch M; Sutherland G R; Richards R I; Mulley J C
A linkage map of microsatellite markers on the human X chromosome.
Genomics 1994;20(3):363-70.
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1994: Sutherland G R; Richards R I
Fragile X syndrome: the most common cause of familial mental retardation.
Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui 1994;35(2):94-101.
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1994: Whitmore S A; Apostolou S; Lane S; Nancarrow J K; Phillips H A; Richards R I; Sutherland G R; Callen D F
Isolation and characterization of transcribed sequences from a chromosome 16 hn-cDNA library and the physical mapping of genes and transcribed sequences using a high-resolution somatic cell panel of human chromosome 16.
Genomics 1994;20(2):169-75.
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1994: Shen Y; Holman K; Doggett N A; Callen D F; Sutherland G R; Richards R I
Dinucleotide repeat polymorphisms at the D16S525, D16S359, D16S531 and D16S522 loci.
Human molecular genetics 1994;3(1):210.
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1993: Sutherland G R; Richards R I
Dynamic mutations on the move.
Journal of medical genetics 1993;30(12):978-81.
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1993: Shen Y; Holman K; Doggett N A; Callen D F; Sutherland G R; Richards R I
Four dinucleotide repeat polymorphisms on human chromosome 16.
Human molecular genetics 1993;2(10):1745.
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1993: Shen Y; Holman K; Doggett N A; Callen D F; Sutherland G R; Richards R I
Three dinucleotide repeat polymorphisms on human chromosome 16p13.11-p13.3.
Human molecular genetics 1993;2(9):1506.
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1993: Shen Y; Holman K; Doggett N A; Callen D F; Sutherland G R; Richards R I
Six dinucleotide repeat polymorphisms on human chromosome 16q12.1-q24.1.
Human molecular genetics 1993;2(9):1505.
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1993: Shen Y; Holman K; Doggett N A; Callen D F; Sutherland G R; Richards R I
Five dinucleotide repeat polymorphisms on human chromosome 16q24.2-q24.3.
Human molecular genetics 1993;2(9):1504.
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1993: Richards R I; Holman K; Yu S; Sutherland G R
Fragile X syndrome unstable element, p(CCG)n, and other simple tandem repeat sequences are binding sites for specific nuclear proteins.
Human molecular genetics 1993;2(9):1429-35.
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1993: Aksentijevich I; Pras E; Gruberg L; Shen Y; Holman K; Helling S; Prosen L; Sutherland G R; Richards R I; Dean M
Familial Mediterranean fever (FMF) in Moroccan Jews: demonstration of a founder effect by extended haplotype analysis.
American journal of human genetics 1993;53(3):644-51.
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1993: Aksentijevich I; Pras E; Gruberg L; Shen Y; Holman K; Helling S; Prosen L; Sutherland G R; Richards R I; Ramsburg M
Refined mapping of the gene causing familial Mediterranean fever, by linkage and homozygosity studies.
American journal of human genetics 1993;53(2):451-61.
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1993: Callen D F; Thompson A D; Shen Y; Phillips H A; Richards R I; Mulley J C; Sutherland G R
Incidence and origin of "null" alleles in the (AC)n microsatellite markers.
American journal of human genetics 1993;52(5):922-7.
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1993: Mitchison H M; Thompson A D; Mulley J C; Kozman H M; Richards R I; Callen D F; Stallings R L; Doggett N A; Attwood J; McKay T R
Fine genetic mapping of the Batten disease locus (CLN3) by haplotype analysis and demonstration of allelic association with chromosome 16p microsatellite loci.
Genomics 1993;16(2):455-60.
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1993: Sutherland G R; Mulley J C; Richards R I
Fragile X syndrome. The most common cause of familial intellectual handicap.
The Medical journal of Australia 1993;158(7):482-5.
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1992: Shen Y; Thompson A T; Holman K; Callen D F; Sutherland G R; Richards R I
Four dinucleotide repeat polymorphisms on human chromosome 16 at D16S289, D16S318, D16S319 and D16S320.
Human molecular genetics 1992;1(9):773.
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1992: Richards R I; Sutherland G R
Dynamic mutations: a new class of mutations causing human disease.
Cell 1992;70(5):709-12.
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1992: Richards R I; Holman K; Friend K; Kremer E; Hillen D; Staples A; Brown W T; Goonewardena P; Tarleton J; Schwartz C
Evidence of founder chromosomes in fragile X syndrome.
Nature genetics 1992;1(4):257-60.
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1992: Mulley J C; Yu S; Gedeon A K; Donnelly A; Turner G; Loesch D; Chapman C J; Gardner R J; Richards R I; Sutherland G R
Experience with direct molecular diagnosis of fragile X.
Journal of medical genetics 1992;29(6):368-74.
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1992: Thompson A D; Shen Y; Holman K; Sutherland G R; Callen D F; Richards R I
Isolation and characterisation of (AC)n microsatellite genetic markers from human chromosome 16.
Genomics 1992;13(2):402-8.
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1992: Gedeon A K; Holman K; Richards R I; Mulley J C
Characterization of new PCR based markers for mapping and diagnosis: AC dinucleotide repeat markers at the DXS237 (GMGX9) and DXS102 (cX38.1) loci.
American journal of medical genetics 1992;43(1-2):255-60.
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1991: Phillips H A; Harris P; Richards R I; Sutherland G R; Mulley J C
Dinucleotide repeat polymorphisms at the D16S164, D16S168 and D16S186 loci at 16q21-q22.1.
Nucleic acids research 1991;19(24):6964.
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1991: Richards R I; Friend K
Determination of Duchenne muscular dystrophy carrier status by single strand conformation polymorphism analysis of deleted regions of the dystrophin locus.
Journal of medical genetics 1991;28(12):856-9.
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1991: Richards R I; Holman K; Kozman H; Kremer E; Lynch M; Pritchard M; Yu S; Mulley J; Sutherland G R
Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site.
Journal of medical genetics 1991;28(12):818-23.
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1991: Phillips H A; Hyland V J; Holman K; Callen D F; Richards R I; Mulley J C
Dinucleotide repeat polymorphism at D16S287.
Nucleic acids research 1991;19(23):6664.
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1991: Chen L Z; Shen Y; Holman K; Thompson A; Lane S; Richards R I; Sutherland G R; Callen D F
An STS at the D16S290 locus.
Nucleic acids research 1991;19(20):5793.
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1991: Shen Y; Holman K; Thompson A; Kozman H; Callen D F; Sutherland G R; Richards R I
Dinucleotide repeat polymorphism at the D16S288 locus.
Nucleic acids research 1991;19(19):5445.
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1991: Gedeon A K; Richards R I; Mulley J C
Dinucleotide repeat polymorphisms at the DXS294 and DXS300 loci in Xq26.
Nucleic acids research 1991;19(18):5087.
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1991: Richards R I; Holman K; Shen Y; Kozman H; Harley H; Brook D; Shaw D
Human glandular Kallikrein genes: genetic and physical mapping of the KLK1 locus using a highly polymorphic microsatellite PCR marker.
Genomics 1991;11(1):77-82.
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1991: Richards R I; Holman K; Lane S; Sutherland G R; Callen D F
Human chromosome 16 physical map: mapping of somatic cell hybrids using multiplex PCR deletion analysis of sequence tagged sites.
Genomics 1991;10(4):1047-52.
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1991: Sutherland G R; Haan E A; Kremer E; Lynch M; Pritchard M; Yu S; Richards R I
Hereditary unstable DNA: a new explanation for some old genetic questions?
Lancet 1991;338(8762):289-92.
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1991: Mulley J C; Gedeon A K; White S J; Haan E A; Richards R I
Predictive diagnosis of myotonic dystrophy with flanking microsatellite markers.
Journal of medical genetics 1991;28(7):448-52.
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1991: Richards R I; Shen Y; Holman K; Kozman H; Hyland V J; Mulley J C; Sutherland G R
Fragile X syndrome: diagnosis using highly polymorphic microsatellite markers.
American journal of human genetics 1991;48(6):1051-7.
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1991: Kremer E J; Pritchard M; Lynch M; Yu S; Holman K; Baker E; Warren S T; Schlessinger D; Sutherland G R; Richards R I
Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n.
Science (New York, N.Y.) 1991;252(5013):1711-4.
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