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RJ Pomponio

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RJ Pomponio; Pinar T Ozand; Mazen Al-Essa; Barry Wolf
Novel mutations in children with profound biotinidase deficiency from Saudi Arabia.
RJ Pomponio; Turgay Coskun; Mübeccel Demirkol; Aysegul Tokatli; Imran Ozalp; Gülden Hüner; Tolunay Baykal; Barry Wolf
Novel mutations cause biotinidase deficiency in Turkish children.
S Blanton; Arti Pandya; BL Landa; R Javaheri; X Xia; Walter E Nance; RJ Pomponio; KJ Norrgard; KL Swango; Mübeccel Demirkol; H Gülden; Turgay Coskun; Aysegul Tokatli; Imran Ozalp; Barry Wolf
Fine mapping of the human biotinidase gene and haplotype analysis of five common mutations.

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All Publications

2000: RJ Pomponio; Pinar T Ozand; Mazen Al-Essa; Barry Wolf
Novel mutations in children with profound biotinidase deficiency from Saudi Arabia.
Journal of inherited metabolic disease 2000;23(2):185-7.
2000: RJ Pomponio; Turgay Coskun; Mübeccel Demirkol; Aysegul Tokatli; Imran Ozalp; Gülden Hüner; Tolunay Baykal; Barry Wolf
Novel mutations cause biotinidase deficiency in Turkish children.
Journal of inherited metabolic disease 2000;23(2):120-8.
2000: S Blanton; Arti Pandya; BL Landa; R Javaheri; X Xia; Walter E Nance; RJ Pomponio; KJ Norrgard; KL Swango; Mübeccel Demirkol; H Gülden; Turgay Coskun; Aysegul Tokatli; Imran Ozalp; Barry Wolf
Fine mapping of the human biotinidase gene and haplotype analysis of five common mutations.
Human heredity 2000;50(2):102-11.
1999: KJ Norrgard; RJ Pomponio; Jeanne Hymes; Barry Wolf
Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children.
Pediatric research 1999;46(1):20-7.
1998: RJ Pomponio; A Yamaguchi; S Arashima; Jeanne Hymes; Barry Wolf
Mutation in a putative glycosylation site (N489T) of biotinidase in the only known Japanese child with biotinidase deficiency.
Molecular genetics and metabolism 1998;64(2):152-4.
1998: H C Knight; TR Reynolds; GA Meyers; RJ Pomponio; Gregory A Buck; Barry Wolf
Structure of the human biotinidase gene.
Mammalian genome : official journal of the International Mammalian Genome Society 1998;9(4):327-30.
1998: RJ Pomponio; Jeanne Hymes; Arti Pandya; BL Landa; Pamela Melone; R Javaheri; R Mardach; S W Morton; GA Meyers; T Reynolds; G Buck; Walter E Nance; Barry Wolf
Prenatal diagnosis of heterozygosity for biotinidase deficiency by enzymatic and molecular analyses.
Prenatal diagnosis 1998;18(2):117-22.
1998: Barry Wolf; RJ Pomponio; KJ Norrgard; Ira T Lott; E Regula Baumgartner; Terttu Suormala; V T Ramaekers; Turgay Coskun; Aysegul Tokatli; Imran Ozalp; Jeanne Hymes
Delayed-onset profound biotinidase deficiency.
The Journal of pediatrics 1998;132(2):362-5.
1998: KJ Norrgard; RJ Pomponio; KL Swango; Jeanne Hymes; T Reynolds; Gregory A Buck; Barry Wolf
Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening the the United States. Mutations in brief no. 128. Online.
Human mutation 1998;11(5):410.
1997: RJ Pomponio; Jeanne Hymes; TR Reynolds; GA Meyers; K Fleischhauer; Gregory A Buck; Barry Wolf
Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis.
Pediatric research 1997;42(6):840-8.
1997: Barry Wolf; KJ Norrgard; RJ Pomponio; D M Mock; J R McVoy; K Fleischhauer; S Shapiro; Miriam G Blitzer; Jeanne Hymes
Profound biotinidase deficiency in two asymptomatic adults.
American journal of medical genetics 1997;73(1):5-9.
1997: KJ Norrgard; RJ Pomponio; KL Swango; Jeanne Hymes; TR Reynolds; Gregory A Buck; Barry Wolf
Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States.
Biochemical and molecular medicine 1997;61(1):22-7.
1997: RJ Pomponio; TR Reynolds; H Mandel; Osnat Admoni; Pamela Melone; Gregory A Buck; Barry Wolf
Profound biotinidase deficiency caused by a point mutation that creates a downstream cryptic 3' splice acceptor site within an exon of the human biotinidase gene.
Human molecular genetics 1997;6(5):739-45.
1997: RJ Pomponio; KJ Norrgard; Jeanne Hymes; TR Reynolds; Gregory A Buck; R Baumgartner; Terttu Suormala; Barry Wolf
Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children.
Human genetics 1997;99(4):506-12.
1996: RJ Pomponio; V Narasimhan; TR Reynolds; Gregory A Buck; L F Povirk; Barry Wolf
Deletion/insertion mutation that causes biotinidase deficiency may result from the formation of a quasipalindromic structure.
Human molecular genetics 1996;5(10):1657-61.
1995: RJ Pomponio; TR Reynolds; H Cole; Gregory A Buck; Barry Wolf
Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency.
Nature genetics 1995;11(1):96-8.