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Results: 1-20 |
Results: 20
Prenatal diagnosis of the 22q11.2 deletion syndrome
Authors: Driscoll, DA
Citation: Da. Driscoll, Prenatal diagnosis of the 22q11.2 deletion syndrome, GENET MED, 3(1), 2001, pp. 14-18
Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISHing net!
Authors: McDonald-McGinn, DM Tonnesen, MK Laufer-Cahana, A Finucane, B Driscoll, DA Emanuel, BS Zackai, EH
Citation: Dm. Mcdonald-mcginn et al., Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISHing net!, GENET MED, 3(1), 2001, pp. 23-29
Association of chromosome 22q11 deletion with isolated anomalies of aorticarch laterality and branching
Authors: McElhinney, DB Clark, BJ Weinberg, PM Kenton, ML McDonald-McGinn, D Driscoll, DA Zackai, EH Goldmuntz, E
Citation: Db. Mcelhinney et al., Association of chromosome 22q11 deletion with isolated anomalies of aorticarch laterality and branching, J AM COL C, 37(8), 2001, pp. 2114-2119
Early ultrasound diagnosis of Neu-Laxova syndrome
Authors: Rode, ME Mennuti, MT Giardine, RM Zackai, EH Driscoll, DA
Citation: Me. Rode et al., Early ultrasound diagnosis of Neu-Laxova syndrome, PRENAT DIAG, 21(7), 2001, pp. 575-580
Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome:genomic organization and deletion endpoint analysis
Authors: Shaikh, TH Kurahashi, H Saitta, SC O'Hare, AM Hu, P Roe, BA Driscoll, DA McDonald-McGinn, DM Zackai, EH Budarf, ML Emanuel, BS
Citation: Th. Shaikh et al., Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome:genomic organization and deletion endpoint analysis, HUM MOL GEN, 9(4), 2000, pp. 489-501
Dysphagia in children with a 22q11.2 deletion: Unusual pattern found on modified barium swallow
Authors: Eicher, PS McDonald-McGinn, DM Fox, CA Driscoll, DA Emanuel, BS Zackai, EH
Citation: Ps. Eicher et al., Dysphagia in children with a 22q11.2 deletion: Unusual pattern found on modified barium swallow, J PEDIAT, 137(2), 2000, pp. 158-164
Communication disorders in the 22q11.2 microdeletion syndrome
Authors: Solot, CB Knightly, C Handler, SD Gerdes, M McDonald-McGinn, DM Moss, E Wang, P Cohen, M Randall, P Larossa, D Driscoll, DA Emanuel, BS Zackai, EH
Citation: Cb. Solot et al., Communication disorders in the 22q11.2 microdeletion syndrome, J COMM DIS, 33(3), 2000, pp. 187-204
Allelic variants of the follistatin gene in polycystic ovary syndrome
Authors: Urbanek, M Wu, XQ Vickery, KR Kao, LC Christenson, LK Schneyer, A Legro, RS Driscoll, DA Strauss, JF Dunaif, A Spielman, RS
Citation: M. Urbanek et al., Allelic variants of the follistatin gene in polycystic ovary syndrome, J CLIN END, 85(12), 2000, pp. 4455-4461
Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22)
Authors: Kurahashi, H Shaikh, TH Zackai, EH Celle, L Driscoll, DA Budarf, ML Emanuel, BS
Citation: H. Kurahashi et al., Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22), AM J HU GEN, 67(3), 2000, pp. 763-768
Longitudinal analysis of lymphocyte function and numbers in the first yearof life in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
Authors: Sullivan, KE McDonald-McGinn, D Driscoll, DA Emanuel, BS Zackai, EH Jawad, AF
Citation: Ke. Sullivan et al., Longitudinal analysis of lymphocyte function and numbers in the first yearof life in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome), CL DIAG LAB, 6(6), 1999, pp. 906-911
cDNA cloning and characterization of a human sperm antigen (SPAG6) with homology to the product of the Chlamydomonas PF16 locus
Authors: Neilson, LI Schneider, PA Van Deerlin, PG Kiriakidou, M Driscoll, DA Pellegrini, MC Millinder, S Yamamoto, KK French, CK Strauss, JF
Citation: Li. Neilson et al., cDNA cloning and characterization of a human sperm antigen (SPAG6) with homology to the product of the Chlamydomonas PF16 locus, GENOMICS, 60(3), 1999, pp. 272-280
Guidelines for 22q11 deletion screening of patients with conotruncal defects - Reply
Authors: Goldmuntz, E Clark, BJ Mitchell, LE Cuneo, BF McDonald-McGinn, D Zackair, EH Emanuel, BS Driscoll, DA
Citation: E. Goldmuntz et al., Guidelines for 22q11 deletion screening of patients with conotruncal defects - Reply, J AM COL C, 33(6), 1999, pp. 1747-1748
Skeletochronological assessment of age structure and population stability for two threatened frog species
Authors: Driscoll, DA
Citation: Da. Driscoll, Skeletochronological assessment of age structure and population stability for two threatened frog species, AUST J ECOL, 24(2), 1999, pp. 182-189
Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion
Authors: Gerdes, M Solot, C Wang, PP Moss, E LaRossa, D Randall, P Goldmuntz, E Clark, BJ Driscoll, DA Jawad, A Emanuel, BS McDonald-McGinn, DM Batshaw, ML Zackai, EH
Citation: M. Gerdes et al., Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion, AM J MED G, 85(2), 1999, pp. 127-133
Thirty-seven candidate genes for polycystic ovary syndrome: Strongest evidence for linkage is with follistatin
Authors: Urbanek, M Legro, RS Driscoll, DA Azziz, R Ehrmann, DA Norman, RJ Strauss, JF Spielman, RS Dunaif, A
Citation: M. Urbanek et al., Thirty-seven candidate genes for polycystic ovary syndrome: Strongest evidence for linkage is with follistatin, P NAS US, 96(15), 1999, pp. 8573-8578
Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern
Authors: Moss, EM Batshaw, ML Solot, CB Gerdes, M McDonald-McGinn, DM Driscoll, DA Emanuel, BS Zackai, EH Wang, PP
Citation: Em. Moss et al., Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern, J PEDIAT, 134(2), 1999, pp. 193-198
Microdeletion 22q11.2: clinical data and deletion size
Authors: Kerstjens-Frederikse, WS Kurahashi, H Driscoll, DA Budarf, ML Emanuel, BS Beatty, B Scheidl, T Siegel-Bartelt, J Henderson, K Cytrynbaum, C Nie, G Teshima, I
Citation: Ws. Kerstjens-frederikse et al., Microdeletion 22q11.2: clinical data and deletion size, J MED GENET, 36(9), 1999, pp. 721-723
Genetic neighbourhood and effective population size for two endangered frogs
Authors: Driscoll, DA
Citation: Da. Driscoll, Genetic neighbourhood and effective population size for two endangered frogs, BIOL CONSER, 88(2), 1999, pp. 221-229
Impact of fuel reduction burning on the frog Geocrinia lutea in southwest Western Australia (vol 22, pg 334, 1997)
Authors: Driscoll, DA Roberts, JD
Citation: Da. Driscoll et Jd. Roberts, Impact of fuel reduction burning on the frog Geocrinia lutea in southwest Western Australia (vol 22, pg 334, 1997), AUST J ECOL, 23(6), 1998, pp. 598-598
Counts of calling males as estimates of population size in the endangered frogs Geocrinia alba and G-vitellina
Authors: Driscoll, DA
Citation: Da. Driscoll, Counts of calling males as estimates of population size in the endangered frogs Geocrinia alba and G-vitellina, J HERPETOL, 32(4), 1998, pp. 475-481
Risultati: 1-20 |