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Maryann Huie

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Anna Nolan; Anil Pooran; William N Rom; Eric Bateman; Rany Condos; Rodney Dawson; Keertan Dheda; Elaine Fajardo; Maryann L Huie; Michael Weiden
Increased production of IL-4 and IL-12p40 from bronchoalveolar lavage cells are biomarkers of Mycobacterium tuberculosis in the sputum.
Jennifer Lighter; M Rigaud; Maryann L Huie; C-H Peng; H Pollack
Chemokine IP-10: an adjunct marker for latent tuberculosis infection in children.
Rod Dawson; Rany Condos; Doris Tse; Maryann L Huie; Stanley Ress; Chi-Hong Tseng; Clint Brauns; Michael Weiden; Yoshihiko Hoshino; Eric D Bateman; William N Rom
Immunomodulation with recombinant interferon-gamma1b in pulmonary tuberculosis.

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All Publications

2013: Anna Nolan; Anil Pooran; William N Rom; Eric Bateman; Rany Condos; Rodney Dawson; Keertan Dheda; Elaine Fajardo; Maryann L Huie; Michael Weiden
Increased production of IL-4 and IL-12p40 from bronchoalveolar lavage cells are biomarkers of Mycobacterium tuberculosis in the sputum.
PloS one 2013;8(3):e59461.
2009: Jennifer Lighter; M Rigaud; Maryann L Huie; C-H Peng; H Pollack
Chemokine IP-10: an adjunct marker for latent tuberculosis infection in children.
The international journal of tuberculosis and lung disease : the official journal of the International Union against Tuberculosis and Lung Disease 2009;13(6):731-6.
2009: Rod Dawson; Rany Condos; Doris Tse; Maryann L Huie; Stanley Ress; Chi-Hong Tseng; Clint Brauns; Michael Weiden; Yoshihiko Hoshino; Eric D Bateman; William N Rom
Immunomodulation with recombinant interferon-gamma1b in pulmonary tuberculosis.
PloS one 2009;4(9):e6984.
2002: Rochelle Hirschhorn; Maryann L Huie; JS Kasper
Computer assisted cloning of human neutral alpha-glucosidase C (GANC): a new paralog in the glycosyl hydrolase gene family 31.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(21):13642-6.
2002: Maryann L Huie; Kwame Anyane-Yeboa; Edwin Guzman; Rochelle Hirschhorn
Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions: identification of a novel heterozygous 8-kb intragenic deletion (IVS7-19 to IVS15-17) in a patient with glycogen storage disease type II.
American journal of human genetics 2002;70(4):1054-7.
2002: Roberto Fernandez-Hojas; Maryann L Huie; Carmen Navarro; Carmen Dominguez; Manuel Roig; Diana Lopez-Coronas; Susana Teijeira; Kwame Anyane-Yeboa; Rochelle Hirschhorn
Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease).
Neuromuscular disorders : NMD 2002;12(2):159-66.
2001: Katheryn Meek; L Kienker; C Dallas; Wei Wang; M J Dark; Patrick J Venta; Maryann L Huie; Rochelle Hirschhorn; Thomas Bell
SCID in Jack Russell terriers: a new animal model of DNA-PKcs deficiency.
Journal of immunology (Baltimore, Md. : 1950) 2001;167(4):2142-50.
2001: Daniel F Pauly; Tom Fraites; Catalin Toma; H S Bayes; Maryann L Huie; Rochelle Hirschhorn; Paul H Plotz; Nina Raben; Paul D Kessler; Barry J Byrne
Intercellular transfer of the virally derived precursor form of acid alpha-glucosidase corrects the enzyme deficiency in inherited cardioskeletal myopathy Pompe disease.
Human gene therapy 2001;12(5):527-38.
2000: Seiichi Tsujino; Maryann L Huie; Naomi Kanazawa; H Sugie; Y Goto; M Kawai; I Nonaka; Rochelle Hirschhorn; Norio Sakuragawa
Frequent mutations in Japanese patients with acid maltase deficiency.
Neuromuscular disorders : NMD 2000;10(8):599-603.
1999: Maryann L Huie; JS Kasper; P H Arn; C R Greenberg; Rochelle Hirschhorn
Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations including a novel nonsense mutation Gln58Stop.
American journal of medical genetics 1999;85(1):5-8.
1999: Elvira Ponce; David P Witte; Rochelle Hirschhorn; Maryann L Huie; Gregory A Grabowski
Murine acid alpha-glucosidase: cell-specific mRNA differential expression during development and maturation.
The American journal of pathology 1999;154(4):1089-96.
1999: Maryann L Huie; Alan L Shanske; JS Kasper; Robert W Marion; Rochelle Hirschhorn
A large Alu-mediated deletion, identified by PCR, as the molecular basis for glycogen storage disease type II (GSDII).
Human genetics 1999;104(1):94-8.
1999: Rochelle Hirschhorn; Maryann L Huie
Frequency of mutations for glycogen storage disease type II in different populations: the delta525T and deltaexon 18 mutations are not generally "common" in white populations.
Journal of medical genetics 1999;36(1):85-6.
1998: J A Becker; J Vlach; Nina Raben; Kanneboyina Nagaraju; EM Adams; Monique M P Hermans; Arnold J J Reuser; S S Brooks; Cynthia J Tifft; Rochelle Hirschhorn; Maryann L Huie; Marc Nicolino; Paul H Plotz
The African origin of the common mutation in African American patients with glycogen-storage disease type II.
American journal of human genetics 1998;62(4):991-4.
1998: Maryann L Huie; Seiichi Tsujino; S Sklower Brooks; A Engel; E Elias; D T Bonthron; C Bessley; S Shanske; S DiMauro; Y I Goto; Rochelle Hirschhorn
Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype.
Biochemical and biophysical research communications 1998;244(3):921-7.
1996: Maryann L Huie; M Menaker; P J McAlpine; Rochelle Hirschhorn
Identification of an E689K substitution as the molecular basis of the human acid alpha-glucosidase type 4 allozyme (GAA*4).
Annals of human genetics 1996;60(Pt 5):365-8.
1996: Rochelle Hirschhorn; D R Yang; J M Puck; Maryann L Huie; C K Jiang; L E Kurlandsky
Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency.
Nature genetics 1996;13(3):290-5.
1994: Maryann L Huie; A S Chen; S Tsujino; S Shanske; S DiMauro; A G Engel; Rochelle Hirschhorn
Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation.
Human molecular genetics 1994;3(12):2231-6.
1994: Rochelle Hirschhorn; D R Yang; A Israni; Maryann L Huie; Dennis Ownby
Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery.
American journal of human genetics 1994;55(1):59-68.
1994: Maryann L Huie; A S Chen; S S Brooks; A Grix; Rochelle Hirschhorn
A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).
Human molecular genetics 1994;3(7):1081-7.
1994: D R Yang; Maryann L Huie; Rochelle Hirschhorn
Homozygosity for a missense mutation (G20R) associated with neonatal onset adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID).
Clinical immunology and immunopathology 1994;70(2):171-5.
1994: Maryann L Huie; Rochelle Hirschhorn; A S Chen; F Martiniuk; N Zhong
Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease).
Human mutation 1994;4(4):291-3.
1993: Rochelle Hirschhorn; A S Chen; A Israni; D R Yang; Maryann L Huie
Two new mutations at the adenosine deaminase (ADA) locus (Q254X and del nt1050-54) unusual for not being missense mutations.
Human mutation 1993;2(4):320-3.