AAAAAA

   
Results: 1-25 |
Results: 25
Three new European cases of urofacial (Ochoa) syndrome
Authors: Garcia-Minaur, S Oliver, F Yanez, JM Soriano, JR Quinn, F Reardon, W
Citation: S. Garcia-minaur et al., Three new European cases of urofacial (Ochoa) syndrome, CLIN DYSMOR, 10(3), 2001, pp. 165-170
An atypical case suggesting the possibility of overlap between Malpuech and Juberg-Hayward syndromes
Authors: Reardon, W Hall, CM Gorman, W
Citation: W. Reardon et al., An atypical case suggesting the possibility of overlap between Malpuech and Juberg-Hayward syndromes, CLIN DYSMOR, 10(2), 2001, pp. 123-128
Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss
Authors: Houseman, MJ Ellis, LA Pagnamenta, A Di, WL Rickard, S Osborn, AH Dahl, HHM Taylor, GR Bitner-Glindzicz, M Reardon, W Mueller, RF Kelsell, DP
Citation: Mj. Houseman et al., Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss, J MED GENET, 38(1), 2001, pp. 20-25
Enlarged vestibular aqueduct: a radiological marker of Pendred syndrome, and mutation of the PDS gene
Authors: Reardon, W O Mahoney, CF Trembath, R Jan, H Phelps, PD
Citation: W. Reardon et al., Enlarged vestibular aqueduct: a radiological marker of Pendred syndrome, and mutation of the PDS gene, QJM-MON J A, 93(2), 2000, pp. 99-104
Elastin: mutational spectrum in supravalvular aortic stenosis
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
Identification of mutations in the MSX2 homeobox gene in families affectedwith foramina parietalia permagna
Authors: Wuyts, W Reardon, W Preis, S Homfray, T Rasore-Quartino, A Christians, H Willems, PJ Van Hul, W
Citation: W. Wuyts et al., Identification of mutations in the MSX2 homeobox gene in families affectedwith foramina parietalia permagna, HUM MOL GEN, 9(8), 2000, pp. 1251-1255
An unknown combination of infantile spasms, retinal lesions, facial dysmorphism and limb abnormalities
Authors: Plomp, AS Reardon, W Benton, S Taylor, D Larcher, VF Sundrum, R Winter, RM
Citation: As. Plomp et al., An unknown combination of infantile spasms, retinal lesions, facial dysmorphism and limb abnormalities, CLIN DYSMOR, 9(3), 2000, pp. 189-192
Oculo-ectodermal syndrome: Report of two further cases
Authors: Lees, M Taylor, D Atherton, D Reardon, W
Citation: M. Lees et al., Oculo-ectodermal syndrome: Report of two further cases, AM J MED G, 91(5), 2000, pp. 391-395
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
Authors: Reardon, W Smith, A Honour, JW Hindmarsh, P Das, D Rumsby, G Nelson, I Malcolm, S Ades, L Sillence, D Kumar, D DeLozier-Blanchet, C McKee, S Kelly, T McKeehan, WL Baraitser, M Winter, RM
Citation: W. Reardon et al., Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?, J MED GENET, 37(1), 2000, pp. 26-32
Inherited deafness in childhood - the genetic revolution unmasks the clinical challenge
Authors: Reardon, W Mueller, RF
Citation: W. Reardon et Rf. Mueller, Inherited deafness in childhood - the genetic revolution unmasks the clinical challenge, ARCH DIS CH, 82(4), 2000, pp. 319-321
Genetic heterogeneity of Usher syndrome: Analysis of 151 families with Usher type I
Authors: Astuto, LM Weston, MD Carney, CA Hoover, DM Cremers, CWRJ Wagenaar, M Moller, C Smith, RJH Pieke-Dahl, S Greenberg, J Ramesar, R Jacobson, SG Ayuso, C Heckenlively, JR Tamayo, M Gorin, MB Reardon, W Kimerling, WJ
Citation: Lm. Astuto et al., Genetic heterogeneity of Usher syndrome: Analysis of 151 families with Usher type I, AM J HU GEN, 67(6), 2000, pp. 1569-1574
Mutation analysis and embryonic expression of the HLXB9 Currarino syndromegene
Authors: Hagan, DM Ross, AJ Strachan, T Lynch, SA Ruiz-Perez, V Wang, YM Scambler, P Custard, E Reardon, W Hassan, S Muenke, M Nixon, P Papapetrou, C Winter, RM Edwards, Y Morrison, K Barrow, M Cordier-Alex, MP Correia, P Galvin-Parton, PA Gaskill, S Gaskin, KJ Garcia-Minaur, S Gereige, R Hayward, R Homfray, T McKeown, C Murday, V Plauchu, H Shannon, N Spitz, L Lindsay, S
Citation: Dm. Hagan et al., Mutation analysis and embryonic expression of the HLXB9 Currarino syndromegene, AM J HU GEN, 66(5), 2000, pp. 1504-1515
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
Authors: Gong, YQ Krakow, D Marcelino, J Wilkin, D Chitayat, D Babul-Hirji, R Hudgins, L Cremers, CW Cremers, FPM Brunner, HG Reinker, K Rimoin, DL Cohn, DH Goodman, FR Reardon, W Patton, M Francomano, CA Warman, ML
Citation: Yq. Gong et al., Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis, NAT GENET, 21(3), 1999, pp. 302-304
Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families
Authors: Wang, J Spitz, L Hayward, R Kiely, E Hall, CM O'Donoghue, DP Palmer, R Goodman, FR Scambler, PJ Winter, RM Reardon, W
Citation: J. Wang et al., Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families, EUR J PED, 158(11), 1999, pp. 902-905
Histopathological findings suggest the diagnosis in an atypical case of Pendred syndrome
Authors: Gill, H Michaels, L Phelps, PD Reardon, W
Citation: H. Gill et al., Histopathological findings suggest the diagnosis in an atypical case of Pendred syndrome, CLIN OTOLAR, 24(6), 1999, pp. 523-526
Computed tomography evaluation of the inner ear as a diagnostic, counselling and management strategy in patients with congenital sensorineural hearing impairment
Authors: Cross, NC Stephens, SDG Francis, M Hourihan, MD Reardon, W
Citation: Nc. Cross et al., Computed tomography evaluation of the inner ear as a diagnostic, counselling and management strategy in patients with congenital sensorineural hearing impairment, CLIN OTOLAR, 24(3), 1999, pp. 235-238
Elastin mutation and cardiac disease
Authors: Chowdhury, T Reardon, W
Citation: T. Chowdhury et W. Reardon, Elastin mutation and cardiac disease, PEDIAT CARD, 20(2), 1999, pp. 103-107
Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome
Authors: Reardon, W Coffey, R Chowdhury, T Grossman, A Jan, H Britton, K Kendall-Taylor, P Trembath, R
Citation: W. Reardon et al., Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome, J MED GENET, 36(8), 1999, pp. 595-598
Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome
Authors: Coucke, PJ Van Hauwe, P Everett, LA Demirhan, O Kabakkaya, Y Dietrich, NL Smith, RJH Coyle, E Reardon, W Trembath, R Willems, PJ Green, ED Van Camp, G
Citation: Pj. Coucke et al., Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome, J MED GENET, 36(6), 1999, pp. 475-477
A genetic study of the human T gene and its exclusion as a major candidategene for sacral agenesis with anorectal atresia
Authors: Papapetrou, C Drummond, F Reardon, W Winter, R Spitz, L Edwards, YH
Citation: C. Papapetrou et al., A genetic study of the human T gene and its exclusion as a major candidategene for sacral agenesis with anorectal atresia, J MED GENET, 36(3), 1999, pp. 208-213
Concurrence of Pendred syndrome, autoimmune thyroiditis, and simple goiterin one family
Authors: Vaidya, B Coffey, R Coyle, B Trembath, R San Lazaro, C Reardon, W Kendall-Taylor, P
Citation: B. Vaidya et al., Concurrence of Pendred syndrome, autoimmune thyroiditis, and simple goiterin one family, J CLIN END, 84(8), 1999, pp. 2736-2738
Further evidence from two families that craniofrontonasal dysplasia maps to Xp22
Authors: Pulleyn, LJ Winter, RM Reardon, W McKeown, C Jones, B Hayward, R Evans, R Malcolm, S
Citation: Lj. Pulleyn et al., Further evidence from two families that craniofrontonasal dysplasia maps to Xp22, CLIN GENET, 55(6), 1999, pp. 473-477
Human Ehlers-Danlos syndrome type VIIC and bovine dermatosparaxis are caused by mutations in the procollagen IN-proteinase gene
Authors: Colige, A Sieron, AL Li, SW Schwarze, U Petty, E Wertelecki, W Wilcox, W Krakow, D Cohn, DH Reardon, W Byers, PH Lapiere, CM Prockop, DJ Nusgens, BV
Citation: A. Colige et al., Human Ehlers-Danlos syndrome type VIIC and bovine dermatosparaxis are caused by mutations in the procollagen IN-proteinase gene, AM J HU GEN, 65(2), 1999, pp. 308-317
Molecular analysis of SALL1 mutations in Townes-Brocks syndrome
Authors: Kohlhase, J Taschner, PEM Burfeind, P Pasche, B Newman, B Blanck, C Breuning, MH ten Kate, LP Maaswinkel-Mooy, P Mitulla, B Seidel, J Kirkpatrick, SJ Pauli, RM Wargowski, DS Devriendt, K Proesmans, W Gabrielli, O Coppa, GV Wesby-van Swaay, E Trembath, RC Schinzel, AA Reardon, W Seemanova, E Engel, W
Citation: J. Kohlhase et al., Molecular analysis of SALL1 mutations in Townes-Brocks syndrome, AM J HU GEN, 64(2), 1999, pp. 435-445
Williams syndrome: Use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes
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: 1-25 |