Citation: K. Oishi et al., Slc19a2: Cloning and characterization of the murine thiamin transporter cDNA and genomic sequence, the orthologue of the human TRMA gene, MOL GEN MET, 73(2), 2001, pp. 149-159
Authors:
Tartaglia, M
Mehler, EL
Goldberg, R
Zampino, G
Brunner, HG
Kremer, H
van der Burgt, I
Crosby, AH
Ion, A
Jeffery, S
Kalidas, K
Patton, MA
Kucherlapati, RS
Gelb, BD
Citation: M. Tartaglia et al., Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome, NAT GENET, 29(4), 2001, pp. 465-468
Authors:
Zhao, F
Satoda, M
Licht, JD
Hayashizaki, Y
Gelb, BD
Citation: F. Zhao et al., Cloning and characterization of a novel mouse AP-2 transcription factor, Ap-2 gamma, with unique DNA binding and transactivation properties, J BIOL CHEM, 276(44), 2001, pp. 40755-40760
Authors:
Zhao, RB
Gao, F
Wang, YH
Diaz, GA
Gelb, BD
Goldman, ID
Citation: Rb. Zhao et al., Impact of the reduced folate carrier on the accumulation of active thiaminmetabolites in murine leukemia cells, J BIOL CHEM, 276(2), 2001, pp. 1114-1118
Authors:
Zhao, F
Weismann, CG
Satoda, M
Pierpont, MEM
Sweeney, E
Thompson, EM
Gelb, BD
Citation: F. Zhao et al., Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation, AM J HU GEN, 69(4), 2001, pp. 695-703
Authors:
Martignetti, JA
Gelb, BD
Pierce, H
Picci, P
Desnick, RJ
Citation: Ja. Martignetti et al., Malignant fibrous histiocytoma: Inherited and sporadic forms have loss of heterozygosity at chromosome bands 9p21-22 - Evidence for a common genetic defect, GENE CHROM, 27(2), 2000, pp. 191-195
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:
Aliprandis, E
Harris, J
Yoo, B
Gelb, BD
Martignetti, JA
Citation: E. Aliprandis et al., Isolation, characterization, and mapping of four novel polymorphic markersand an H3.3B pseudogene to chromosome 9p21-22, J HUM GENET, 44(5), 1999, pp. 348-349
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:
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:
Zhou, G
Chen, YQ
Zhou, L
Thirunavukkarasu, K
Hecht, J
Chitayat, D
Gelb, BD
Pirinen, S
Berry, SA
Greenberg, CR
Karsenty, G
Lee, B
Citation: G. Zhou et al., CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia, HUM MOL GEN, 8(12), 1999, pp. 2311-2316
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
Citation: Bd. Gelb et al., Familial patent ductus arteriosus and bicuspid aortic valve with hand anomalies: A novel heart-hand syndrome, AM J MED G, 87(2), 1999, pp. 175-179
Authors:
Diaz, GA
Gelb, BD
Ali, F
Sakati, N
Sanjad, S
Meyer, BF
Kambouris, M
Citation: Ga. Diaz et al., Sanjad-sakati and autosomal recessive Kenny-Caffey syndromes are allelic: Evidence for an ancestral founder mutation and locus refinement, AM J MED G, 85(1), 1999, pp. 48-52
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