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Results: 26-48/48
Authors:
Verghese, J
Goldberg, RF
Desnick, RJ
Grace, ME
Goldman, JE
Lee, SC
Dickson, DW
Rapin, I
Citation: J. Verghese et al., Myoclonus from selective dentate nucleus degeneration in type 3 Gaucher disease, ARCH NEUROL, 57(3), 2000, pp. 389-395
Authors:
Diaz, GA
Gelb, BD
Risch, N
Nygaard, TG
Frisch, A
Cohen, IJ
Miranda, CS
Amaral, O
Maire, I
Poenaru, L
Caillaud, C
Weizberg, M
Mistry, P
Desnick, RJ
Citation: Ga. Diaz et al., Gaucher disease: The origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations, AM J HU GEN, 66(6), 2000, pp. 1821-1832
Authors:
Martignetti, JA
Heath, KE
Harris, J
Bizzaro, N
Savoia, A
Balduini, CL
Desnick, RJ
Citation: Ja. Martignetti et al., The gene for May-Hegglin anomaly localizes to a < 1-mb region on chromosome 22q12.3-13.1, AM J HU GEN, 66(4), 2000, pp. 1449-1454
Authors:
Qu, Y
Shapira, E
Desnick, RJ
Citation: Y. Qu et al., Metachromatic leukodystrophy: Subtype genotype phenotype correlations and identification of novel missense mutations (P148L and P191T) causing the juvenile-onset disease, MOL GEN MET, 67(3), 1999, pp. 206-212
Authors:
He, XX
Li, CM
Simonaro, CM
Wan, Q
Haskins, ME
Desnick, RJ
Schuchman, EH
Citation: Xx. He et al., Identification and characterization of the molecular lesion causing mucopolysaccharidosis type I in cats, MOL GEN MET, 67(2), 1999, pp. 106-112
Authors:
Banikazemi, M
Diaz, GA
Vossough, P
Jalali, M
Desnick, RJ
Gelb, BD
Citation: M. Banikazemi et al., Localization of the thiamine-responsive megaloblastic anemia syndrome locus to a 1.4-cM region of 1q23, MOL GEN MET, 66(3), 1999, pp. 193-198
Authors:
Topaloglu, AK
Ashley, GA
Tong, BZ
Shabbeer, J
Astrin, KH
Eng, CM
Desnick, RJ
Citation: Ak. Topaloglu et al., Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease, MOL MED, 5(12), 1999, pp. 806-811
Authors:
Solis, C
Lopez-Echaniz, I
Sefarty-Graneda, D
Astrin, KH
Desnick, RJ
Citation: C. Solis et al., Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP), MOL MED, 5(10), 1999, pp. 664-671
Authors:
Diaz, GA
Banikazemi, M
Oishi, K
Desnick, RJ
Gelb, BD
Citation: Ga. Diaz et al., Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome, NAT GENET, 22(3), 1999, pp. 309-312
Authors:
Ziegler, RJ
Yew, NS
Li, C
Cherry, M
Berthelette, PC
Romanczuk, H
Ioannou, YA
Zeidner, KM
Desnick, RJ
Cheng, SH
Citation: Rj. Ziegler et al., Correction of enzymatic and lysosomal storage defects in Fabry mice by adenovirus-mediated gene transfer, HUM GENE TH, 10(10), 1999, pp. 1667-1682
Authors:
Nishi, Y
Atley, L
Eyre, DE
Edelson, JG
Superti-Furga, A
Yasuda, T
Desnick, RJ
Gelb, BD
Citation: Y. Nishi et al., Determination of bone markers in pycnodysostosis: Effects of cathepsin K deficiency on bone matrix degradation, J BONE MIN, 14(11), 1999, pp. 1902-1908
Authors:
Rudolf, J
Grond, M
Schindler, D
Heiss, WD
Desnick, RJ
Citation: J. Rudolf et al., Cerebral glucose metabolism in type I alpha-N-acetylgalactosaminidase deficiency: An infantile neuroaxonal dystrophy, J CHILD NEU, 14(8), 1999, pp. 543-547
Authors:
De Siervi, A
Rossetti, MV
Parera, VE
Astrin, KH
Aizencang, GI
Glass, IA
Batlle, AMD
Desnick, RJ
Citation: A. De Siervi et al., Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: Evidence for an ancestral founderof the common G111R mutation, AM J MED G, 86(4), 1999, pp. 366-375
Authors:
Ashton-Prolla, P
Ashley, GA
Giugliani, R
Pires, RF
Desnick, RJ
Eng, CM
Citation: P. Ashton-prolla et al., Fabry disease: Comparison of enzymatic, linkage, and mutation analysis forcarrier detection in a family with a novel mutation (30delG), AM J MED G, 84(5), 1999, pp. 420-424
Authors:
Wasserstein, MP
Martignetti, JA
Zeitlin, R
Lumerman, H
Solomon, M
Grace, ME
Desnick, RJ
Citation: Mp. Wasserstein et al., Type 1 Gaucher disease presenting with extensive mandibular lytic lesions:Identification and expression of a novel acid beta-glucosidase mutation, AM J MED G, 84(4), 1999, pp. 334-339
Authors:
Wasserstein, MP
Gaddipati, S
Snyderman, SE
Eddleman, K
Desnick, RJ
Sansaricq, C
Citation: Mp. Wasserstein et al., Successful pregnancy in severe methylmalonic acidaemia, J INH MET D, 22(7), 1999, pp. 788-794
Authors:
Topaloglu, AK
Sansaricq, C
Fox, JE
Bale, AE
Tuchman, M
Desnick, RJ
Citation: Ak. Topaloglu et al., Prenatal molecular diagnosis of severe ornithine carbamoyltransferase deficiency due to a novel mutation, E181G, J INH MET D, 22(1), 1999, pp. 82-83
Authors:
McGovern, MM
Benach, MO
Wallenstein, S
Desnick, RJ
Keenlyside, R
Citation: Mm. Mcgovern et al., Quality assurance in molecular genetic testing laboratories, J AM MED A, 281(9), 1999, pp. 835-840
Authors:
Grace, ME
Ashton-Prolla, P
Pastores, GM
Soni, A
Desnick, RJ
Citation: Me. Grace et al., Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 Gaucher disease, J CLIN INV, 103(6), 1999, pp. 817-823
Authors:
Hou, WS
Bromme, D
Zhao, YM
Mehler, E
Dushey, C
Weinstein, H
Miranda, CS
Fraga, C
Greig, F
Carey, J
Rimoin, DL
Desnick, RJ
Gelb, BD
Citation: Ws. Hou et al., Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis, J CLIN INV, 103(5), 1999, pp. 731-738
Authors:
Zeidner, KM
Desnick, RJ
Ioannou, YA
Citation: Km. Zeidner et al., Quantitative determination of globotriaosylceramide by immunodetection of glycolipid-bound recombinant verotoxin B subunit, ANALYT BIOC, 267(1), 1999, pp. 104-113
Authors:
Martignetti, JA
Desnick, RJ
Aliprandis, E
Norton, KI
Hardcastle, P
Nade, S
Gelb, BD
Citation: Ja. Martignetti et al., Diaphyseal medullary stenosis with malignant fibrous histiocytoma: a hereditary bone dysplasia/cancer syndrome maps to 9p21-22, AM J HU GEN, 64(3), 1999, pp. 801-807
Authors:
Desnick, RJ
Glass, IA
Xu, WM
Solis, C
Astrin, KH
Citation: Rj. Desnick et al., Molecular genetics of congenital erythropoietic porphyria, SEM LIV DIS, 18(1), 1998, pp. 77-84