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Results: 1-18 |
Results: 18
Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy
Authors: Toomes, C Marchbank, NJ Mackey, DA Craig, JE Newbury-Ecob, RA Bennett, CP Vize, CJ Desai, SP Black, GCM Patel, N Teimory, M Markham, AF Inglehearn, CF Churchill, AJ
Citation: C. Toomes et al., Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy, HUM MOL GEN, 10(13), 2001, pp. 1369-1378
Situs inversus totalis and congenital hypoglossia
Authors: Amor, DJ Craig, JE
Citation: Dj. Amor et Je. Craig, Situs inversus totalis and congenital hypoglossia, CLIN DYSMOR, 10(1), 2001, pp. 47-50
Genetic factors in athetoid cerebral palsy
Authors: Amor, DJ Craig, JE Delatycki, MB Reddihough, D
Citation: Dj. Amor et al., Genetic factors in athetoid cerebral palsy, J CHILD NEU, 16(11), 2001, pp. 793-797
Survival of nontypeable Haemophilus influenzae in macrophages
Authors: Craig, JE Cliffe, A Garnett, K High, NJ
Citation: Je. Craig et al., Survival of nontypeable Haemophilus influenzae in macrophages, FEMS MICROB, 203(1), 2001, pp. 55-61
Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier
Authors: Craig, JE Baird, PN Healey, DL McNaught, AI McCartney, PJ Rait, JL Dickinson, JL Roe, L Fingert, JH Stone, EM Mackey, DA
Citation: Je. Craig et al., Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier, OPHTHALMOL, 108(9), 2001, pp. 1607-1620
Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension
Authors: Fingert, JH Clark, AF Craig, JE Alward, WLM Snibson, GR McLaughlin, M Tuttle, L Mackey, DA Sheffield, VC Stone, EM
Citation: Jh. Fingert et al., Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension, INV OPHTH V, 42(1), 2001, pp. 145-152
The Taa1 restriction enzyme provides a simple means to identify the Q368STOP mutation of the myocilin gene in primary open angle glaucoma
Authors: Baird, PN Dickinson, J Craig, JE Mackey, DA
Citation: Pn. Baird et al., The Taa1 restriction enzyme provides a simple means to identify the Q368STOP mutation of the myocilin gene in primary open angle glaucoma, AM J OPHTH, 131(4), 2001, pp. 510-511
A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye
Authors: Nishimura, DY Searby, CC Alward, WL Walton, D Craig, JE Mackey, DA Kawase, K Kanis, AB Patil, SR Stone, EM Sheffield, VC
Citation: Dy. Nishimura et al., A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye, AM J HU GEN, 68(2), 2001, pp. 364-372
Amiodarone is safe and highly effective therapy for supraventricular tachycardia in infants
Authors: Etheridge, SP Craig, JE Compton, SJ
Citation: Sp. Etheridge et al., Amiodarone is safe and highly effective therapy for supraventricular tachycardia in infants, AM HEART J, 141(1), 2001, pp. 105-110
What is the yield of screening echocardiography in pediatric syncope?
Authors: Ritter, S Tani, LY Etheridge, SP Williams, RV Craig, JE Minich, LL
Citation: S. Ritter et al., What is the yield of screening echocardiography in pediatric syncope?, PEDIATRICS, 105(5), 2000, pp. E581-E583
Accuracy and implications of a reported family history of glaucoma - Experience from the glaucoma inheritance study in Tasmania
Authors: McNaught, AI Allen, JG Healey, DL McCartney, PJ Coote, MA Wong, TL Craig, JE Green, CM Rait, JL Mackey, DA
Citation: Ai. Mcnaught et al., Accuracy and implications of a reported family history of glaucoma - Experience from the glaucoma inheritance study in Tasmania, ARCH OPHTH, 118(7), 2000, pp. 900-904
Analysis of five Duchenne muscular dystrophy exons and gender determination using conventional duplex polymerase chain reaction on single cells
Authors: Hussey, ND Hu, DG Froiland, DAH Hussey, DJ Haan, EA Matthews, CD Craig, JE
Citation: Nd. Hussey et al., Analysis of five Duchenne muscular dystrophy exons and gender determination using conventional duplex polymerase chain reaction on single cells, MOL HUM REP, 5(11), 1999, pp. 1089-1094
No association between the -308 polymorphism in the tumour necrosis factoralpha (TNF alpha) promoter region and polycystic ovaries
Authors: Milner, CR Craig, JE Hussey, ND Norman, RJ
Citation: Cr. Milner et al., No association between the -308 polymorphism in the tumour necrosis factoralpha (TNF alpha) promoter region and polycystic ovaries, MOL HUM REP, 5(1), 1999, pp. 5-9
Phase variation of lic1A, lic2A and lic3A in colonization of the nasopharynx, bloodstream and cerebrospinal fluid by Haemophilus influenzae type b
Authors: Hosking, SL Craig, JE High, NJ
Citation: Sl. Hosking et al., Phase variation of lic1A, lic2A and lic3A in colonization of the nasopharynx, bloodstream and cerebrospinal fluid by Haemophilus influenzae type b, MICROBIO-UK, 145, 1999, pp. 3005-3011
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations
Authors: Fingert, JH Heon, E Liebmann, JM Yamamoto, T Craig, JE Rait, J Kawase, K Hoh, ST Buys, YM Dickinson, J Hockey, RR Williams-Lyn, D Trope, G Kitazawa, Y Ritch, R Mackey, DA Alward, WLN Sheffield, VC Stone, EM
Citation: Jh. Fingert et al., Analysis of myocilin mutations in 1703 glaucoma patients from five different populations, HUM MOL GEN, 8(5), 1999, pp. 899-905
Low maternal serum oestriol at mid-trimester may indicate a fetal disorderof cholesterol biosynthesis
Authors: Craig, JE Savage, V Cowley, D Clague, A Glass, IA
Citation: Je. Craig et al., Low maternal serum oestriol at mid-trimester may indicate a fetal disorderof cholesterol biosynthesis, AUST NZ J O, 39(2), 1999, pp. 249-251
Genetics of Hb F/F cell variance in adults and heterocellular hereditary persistence of fetal hemoglobin
Authors: Thein, SL Craig, JE
Citation: Sl. Thein et Je. Craig, Genetics of Hb F/F cell variance in adults and heterocellular hereditary persistence of fetal hemoglobin, HEMOGLOBIN, 22(5-6), 1998, pp. 401-414
Fat necrosis after ice application for supraventricular tachycardia termination
Authors: Craig, JE Scholz, TA Vanderhooft, SL Etheridge, SP
Citation: Je. Craig et al., Fat necrosis after ice application for supraventricular tachycardia termination, J PEDIAT, 133(6), 1998, pp. 727-727
Risultati: 1-18 |