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Results:
1-22
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Results: 22
Authors:
Elanko, N
Sibbring, JS
Metcalfe, KA
Clayton-Smith, J
Donnai, D
Temple, IK
Wall, SA
Wilkie, AOM
Citation: N. Elanko et al., A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals, HUM MUTAT, 18(6), 2001, pp. 535-541
Authors:
Donnai, D
Elles, R
Citation: D. Donnai et R. Elles, Integrated regional genetic services: current and future provision, BR MED J, 322(7293), 2001, pp. 1048-1051
Authors:
Black, GCM
Donnai, D
Citation: Gcm. Black et D. Donnai, Genetic testing - swings and roundabouts: a view from the United Kingdom, BR J OPHTH, 85(12), 2001, pp. 1402-1404
Authors:
Machado, RD
Pauciulo, MW
Thomson, JR
Lane, KB
Morgan, NV
Wheeler, L
Phillips, JA
Newman, J
Williams, D
Galie, N
Manes, A
McNeil, K
Yacoub, M
Mikhail, G
Rogers, P
Corris, P
Humbert, M
Donnai, D
Martensson, G
Tranebjaerg, L
Loyd, JE
Trembath, RC
Nichols, WC
Citation: Rd. Machado et al., BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension, AM J HU GEN, 68(1), 2001, pp. 92-102
Authors:
Metcalfe, K
Rucka, AK
Smoot, L
Hofstadler, G
Tuzler, G
McKeown, P
Siu, V
Rauch, A
Dean, J
Dennis, N
Ellis, I
Reardon, W
Cytrynbaum, C
Osborne, L
Yates, JR
Read, AP
Donnai, D
Tassabehji, M
Citation: K. Metcalfe et al., Elastin: mutational spectrum in supravalvular aortic stenosis, EUR J HUM G, 8(12), 2000, pp. 955-963
Authors:
Has, C
Bruckner-Tuderman, L
Muller, D
Floeth, M
Folkers, E
Donnai, D
Traupe, H
Citation: C. Has et al., The Conradi-Hunermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism, HUM MOL GEN, 9(13), 2000, pp. 1951-1955
Authors:
Donnai, D
Kerzin-Storrar, L
Craufurd, D
Evans, G
Clayton-Smith, J
Kingston, H
Citation: D. Donnai et al., Tensions in implementing the new genetics - Genetic counsellors could be based in genetic centres but be formally linked to general practices, BR MED J, 321(7255), 2000, pp. 241-241
Authors:
Donnai, D
Karmiloff-Smith, A
Citation: D. Donnai et A. Karmiloff-smith, Williams syndrome: From genotype through to the cognitive phenotype, AM J MED G, 97(2), 2000, pp. 164-171
Authors:
McGaughran, JM
Donnai, D
Clayton-Smith, J
Citation: Jm. Mcgaughran et al., Biliary atresia in Kabuki syndrome, AM J MED G, 91(2), 2000, pp. 157-158
Authors:
Newman, B
Donnai, D
Briggs, MD
Citation: B. Newman et al., Molecular diagnosis is important to confirm suspected pseudoachondroplasia, J MED GENET, 37(1), 2000, pp. 64-65
Authors:
Seroussi, E
Kedra, D
Pan, HQ
Peyrard, M
Schwartz, C
Scambler, P
Donnai, D
Roe, BA
Dumanski, JP
Citation: E. Seroussi et al., Duplications on human chromosome 22 reveal a novel ret finger protein-likegene family with sense and endogenous antisense transcripts, GENOME RES, 9(9), 1999, pp. 803-814
Authors:
Tassabehji, M
Carrette, M
Wilmot, C
Donnai, D
Read, AP
Metcalfe, K
Citation: M. Tassabehji et al., A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome, EUR J HUM G, 7(7), 1999, pp. 737-747
Authors:
Borsani, G
DeGrandi, A
Ballabio, A
Bulfone, A
Bernard, L
Banfi, S
Gattuso, C
Mariani, M
Dixon, M
Donnai, D
Metcalfe, K
Winter, R
Robertson, M
Axton, R
Brown, A
van Heyningen, V
Hanson, I
Citation: G. Borsani et al., EYA4, a novel vertebrate gene related to Drosophila eyes absent, HUM MOL GEN, 8(1), 1999, pp. 11-23
Authors:
Korniszewski, L
Skorka, A
Donnai, D
Citation: L. Korniszewski et al., Disorganisation: a case with popliteal pterygia and placental-skin appendages, CLIN DYSMOR, 8(4), 1999, pp. 277-281
Authors:
Hockenhull, EL
Carette, MJ
Metcalfe, K
Donnai, D
Read, AP
Tassabehji, M
Citation: El. Hockenhull et al., A complete physical contig and partial transcript map of the Williams syndrome critical region, GENOMICS, 58(2), 1999, pp. 138-145
Authors:
Stewart, H
Black, GCM
Donnai, D
Bonshek, RE
McCarthy, J
Morgan, S
Dixon, MJ
Ridgway, AAE
Citation: H. Stewart et al., A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late onset form of lattice corneal dystrophy, OPHTHALMOL, 106(5), 1999, pp. 964-970
Authors:
Black, GCM
Perveen, R
Wiszniewski, W
Dodd, CL
Donnai, D
McLeod, D
Citation: Gcm. Black et al., A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14, OPHTHALMOL, 106(11), 1999, pp. 2074-2081
Authors:
Lam, WWK
Hatada, I
Ohishi, S
Mukai, T
Joyce, JA
Cole, TRP
Donnai, D
Reik, W
Schofield, PN
Maher, ER
Citation: Wwk. Lam et al., Analysis of germline CDKN1C (p57(KIP2)) mutations in familial and sporadicBeckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation, J MED GENET, 36(7), 1999, pp. 518-523
Authors:
Slavotinek, A
Rosenberg, M
Knight, S
Gaunt, L
Fergusson, W
Killoran, C
Clayton-Smith, J
Kingston, H
Campbell, RHA
Flint, J
Donnai, D
Biesecker, L
Citation: A. Slavotinek et al., Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosometelomeres, J MED GENET, 36(5), 1999, pp. 405-411
Authors:
McGaughran, JM
Harris, DI
Donnai, D
Teare, D
MacLeod, R
Westerbeek, R
Kingston, H
Super, M
Harris, R
Evans, DGR
Citation: Jm. Mcgaughran et al., A clinical study of type 1 neurofibromatosis in north west England, J MED GENET, 36(3), 1999, pp. 197-203
Authors:
Woffendin, H
Jakins, T
Jouet, M
Stewart, H
Landy, S
Haan, E
Harris, A
Donnai, D
Read, A
Kenwrick, S
Citation: H. Woffendin et al., X-inactivation and marker studies in three families with incontinentia pigmenti: implications for counselling and gene localisation, CLIN GENET, 55(1), 1999, pp. 55-60
Authors:
Tassabehji, M
Metcalfe, K
Karmiloff-Smith, A
Carette, MJ
Grant, J
Dennis, N
Reardon, W
Splitt, M
Read, AP
Donnai, D
Citation: M. Tassabehji et al., Williams syndrome: Use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes, AM J HU GEN, 64(1), 1999, pp. 118-125
Risultati:
1-22
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