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Results: 1-25/33
Authors:
Pandya, A
Wasfy, S
Hebert, D
Allen, UD
Citation: A. Pandya et al., Varicella-zoster infection in pediatric solid-organ transplant recipients:A hospital-based study in the prevaricella vaccine era, PEDIAT TRAN, 5(3), 2001, pp. 153-159
Authors:
Lee, MH
Gordon, D
Ott, J
Lu, KM
Ose, L
Miettinen, T
Gylling, H
Stalenhoef, AF
Pandya, A
Hidaka, H
Brewer, B
Kojima, H
Sakuma, N
Pegoraro, R
Salen, G
Patel, SB
Citation: Mh. Lee et al., Fine mapping of a gene responsible for regulating dietary cholesterol absorption; founder effects underlie cases of phytosterolaemia in multiple communities, EUR J HUM G, 9(5), 2001, pp. 375-384
Authors:
Tekin, M
Akar, N
Cin, S
Blanton, SH
Xia, XJ
Liu, XZ
Nance, WE
Pandya, A
Citation: M. Tekin et al., Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians, HUM GENET, 108(5), 2001, pp. 385-389
Authors:
Fleck, BJ
Pandya, A
Vanner, L
Kerkering, K
Bodurtha, J
Citation: Bj. Fleck et al., Coffin-Siris syndrome: Review and presentation of new cases from a questionnaire study, AM J MED G, 99(1), 2001, pp. 1-7
Authors:
Tekin, M
Jackson-Cook, C
Pandya, A
Citation: M. Tekin et al., De novo inverted tandem duplication of the short arm of chromosome 12 in apatient with microblepharon, AM J MED G, 104(1), 2001, pp. 42-46
Authors:
Tekin, M
Arnos, KS
Pandya, A
Citation: M. Tekin et al., Advances in hereditary deafness, LANCET, 358(9287), 2001, pp. 1082-1090
Authors:
Ben-Yosef, T
Wattenhofer, M
Riazuddin, S
Ahmed, ZM
Scot, HS
Kudoh, J
Shibuya, K
Antonarakis, SE
Bonne-Tamir, B
Radhakrishna, U
Naz, S
Ahmed, Z
Riazuddin, S
Pandya, A
Nance, WE
Wilcox, ER
Friedman, TB
Morell, RJ
Citation: T. Ben-yosef et al., Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness, J MED GENET, 38(6), 2001, pp. 396-400
Authors:
Amann, ST
Gates, LK
Aston, CE
Pandya, A
Whitcomb, DC
Citation: St. Amann et al., Expression and penetrance of the hereditary pancreatitis phenotype in monozygotic twins, GUT, 48(4), 2001, pp. 542-547
Authors:
Tekin, M
Bodurtha, JN
Nance, WE
Pandya, A
Citation: M. Tekin et al., Waardenburg syndrome type 3 (Klein-Waardenburg syndrome) segregating with a heterozygous deletion in box domain of PAX3: a simple variant or a true syndrome, CLIN GENET, 60(4), 2001, pp. 301-304
Authors:
Liu, XZ
Blanton, SH
Bitner-Glindzicz, M
Pandya, A
Landa, B
MacArdle, B
Rajput, K
Bellman, S
Webb, BT
Ping, X
Smith, RJH
Nance, WE
Citation: Xz. Liu et al., Haplotype analysis of the USH1D locus and genotype-phenotype correlations, CLIN GENET, 60(1), 2001, pp. 58-62
Authors:
Tekin, M
Arnos, KS
Xia, XJ
Oelrich, MK
Liu, XZ
Nance, WE
Pandya, A
Citation: M. Tekin et al., W44C mutation in the connexin 26 gene associated with dominant non-syndromic deafness, CLIN GENET, 59(4), 2001, pp. 269-273
Authors:
Lu, KM
Lee, MH
Hazard, S
Brooks-Wilson, A
Hidaka, H
Kojima, H
Ose, L
Stalenhoef, AFH
Mietinnen, T
Bjorkhem, I
Bruckert, E
Pandya, A
Brewer, HB
Salen, G
Dean, M
Srivastava, A
Patel, SB
Citation: Km. Lu et al., Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively, AM J HU GEN, 69(2), 2001, pp. 278-290
Authors:
Buller, A
Pandya, A
Jackson-Cook, C
Bodurtha, J
Tekin, M
Wilkinson, DS
Garrett, CT
Ferreira-Gonzalez, A
Citation: A. Buller et al., Validation of a multiplex methylation-sensitive PCR assay for the diagnosis of Prader-Willi and Angelman's syndromes, MOL DIAGN, 5(3), 2000, pp. 239-243
Authors:
Santos, FR
Pandya, A
Kayser, M
Mitchell, RJ
Liu, AP
Singh, L
Destro-Bisol, G
Novelletto, A
Qamar, R
Mehdi, SQ
Adhikari, R
de Knijff, P
Tyler-Smith, C
Citation: Fr. Santos et al., A polymorphic L1 retroposon insertion in the centromere of the human Y chromosome, HUM MOL GEN, 9(3), 2000, pp. 421-430
Authors:
Liu, XZ
Xia, XJ
Xu, LR
Pandya, A
Liang, CY
Blanton, SH
Brown, SDM
Steel, KP
Nance, WE
Citation: Xz. Liu et al., Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss, HUM MOL GEN, 9(1), 2000, pp. 63-67
Authors:
Bao, WD
Zhu, SL
Pandya, A
Zerjal, T
Xu, JJ
Shu, QF
Du, RF
Yang, HM
Tyler-Smith, C
Citation: Wd. Bao et al., MSY2: a slowly evolving minisatellite on the human Y chromosome which provides a useful polymorphic marker in Chinese populations, GENE, 244(1-2), 2000, pp. 29-33
Authors:
Pandya, A
Vaijapurkar, SG
Bhatnagar, PK
Citation: A. Pandya et al., Radiation dosimetry by potassium feldspar, B MATER SCI, 23(2), 2000, pp. 155-158
Authors:
Tekin, M
Jackson-Cook, C
Buller, A
Ferreira-Gonzalez, A
Pandya, A
Garrett, CT
Bodurtha, J
Citation: M. Tekin et al., Fluorescence in situ hybridization detectable mosaicism for Angelman syndrome with biparental methylation, AM J MED G, 95(2), 2000, pp. 145-149
Authors:
Nance, WE
Liu, XZ
Pandya, A
Citation: We. Nance et al., Relation between choice of partner and high frequency of cannexin-26 deafness, LANCET, 356(9228), 2000, pp. 500-501
Authors:
Nye, JS
Hayes, EA
Amendola, M
Vaughn, D
Charrow, J
McLone, DG
Speer, MC
Nance, WE
Pandya, A
Citation: Js. Nye et al., Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies, TERATOLOGY, 61(3), 2000, pp. 165-171
Authors:
Hormbrey, E
Pandya, A
Humzah, D
Citation: E. Hormbrey et al., Drain fixation made foolproof, ANN RC SURG, 82(4), 2000, pp. 290-292
Authors:
Baumgartner, FJ
Omari, BO
Robertson, JM
Nelson, RJ
Pandya, A
Pandya, A
Milliken, JC
Citation: Fj. Baumgartner et al., Annular abscesses in surgical endocarditis: Anatomic, clinical, and operative features, ANN THORAC, 70(2), 2000, pp. 442-447
Authors:
Rosser, ZH
Zerjal, T
Hurles, ME
Adojaan, M
Alavantic, D
Amorim, A
Amos, W
Armenteros, M
Arroyo, E
Barbujani, G
Beckman, G
Beckman, L
Bertranpetit, J
Bosch, E
Bradley, DG
Brede, G
Cooper, G
Corte-Real, HBSM
de Knijff, P
Decorte, R
Dubrova, YE
Evgrafov, O
Gilissen, A
Glisic, S
Golge, M
Hill, EW
Jeziorowska, A
Kalaydjieva, L
Kayser, M
Kivisild, T
Kravchenko, SA
Krumina, A
Kucinskas, V
Lavinha, J
Livshits, LA
Malaspina, P
Maria, S
McElreavey, K
Meitinger, TA
Mikelsaar, AV
Mitchell, RJ
Nafa, K
Nicholson, J
Norby, S
Pandya, A
Parik, J
Patsalis, PC
Pereira, L
Peterlin, B
Pielberg, G
Prata, ML
Previdere, C
Roewer, L
Rootsi, S
Rubinsztein, DC
Saillard, J
Santos, FR
Stefanescu, G
Sykes, BC
Tolun, A
Villems, R
Tyler-Smith, C
Jobling, MA
Citation: Zh. Rosser et al., Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language, AM J HU GEN, 67(6), 2000, pp. 1526-1543
Authors:
Pandya, A
Nance, WE
Citation: A. Pandya et We. Nance, Mutations in the mitochondrial tRNA Ser(UCN) and in the GJB2 (connexin 26)gene are not modifiers of the age at onset or severity of hearing loss in Spanish patients with the 12S rRNA A1555G mutation - Reply to Lopez-Bigas et al., AM J HU GEN, 66(4), 2000, pp. 1467-1467
Authors:
Blanton, SH
Pandya, A
Landa, BL
Javaheri, R
Xia, XJ
Nance, WE
Pomponio, RJ
Norrgard, KJ
Swango, KL
Demirkol, M
Gulden, H
Coskun, T
Tokatli, A
Ozalp, I
Wolf, B
Citation: Sh. Blanton et al., Fine mapping of the human biotinidase gene and haplotype analysis of five common mutations, HUMAN HERED, 50(2), 2000, pp. 102-111