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Results: 1-25 | 26-50 | 51-62
Results: 1-25/62
CRANIOFACIAL DEVELOPMENTAL ABNORMALITIES
Authors: ELMSLIE FV REARDON W
Citation: Fv. Elmslie et W. Reardon, CRANIOFACIAL DEVELOPMENTAL ABNORMALITIES, Current opinion in neurology, 11(2), 1998, pp. 103-108
A HOMEOBOX GENE, HLXB9, IS THE MAJOR LOCUS FOR DOMINANTLY INHERITED SACRAL AGENESIS
Authors: ROSS AJ RUIZPEREZ V WANG YM HAGAN DM SCHERER S LYNCH SA LINDSAY S CUSTARD E BELLONI E WILSON DI WADEY R GOODMAN F ORSTAVIK KH MONCLAIR T ROBSON S REARDON W BURN J SCAMBLER P STRACHAN T
Citation: Aj. Ross et al., A HOMEOBOX GENE, HLXB9, IS THE MAJOR LOCUS FOR DOMINANTLY INHERITED SACRAL AGENESIS, Nature genetics, 20(4), 1998, pp. 358-361
MUTATION AND DELETION OF THE PSEUDOAUTOSOMAL GENE SHOX CAUSE LERI-WEILL DYSCHONDROSTEOSIS
Authors: SHEARS DJ VASSAL HJ GOODMAN FR PALMER RW REARDON W SUPERTIFURGA A SCAMBLER PJ WINTER RM
Citation: Dj. Shears et al., MUTATION AND DELETION OF THE PSEUDOAUTOSOMAL GENE SHOX CAUSE LERI-WEILL DYSCHONDROSTEOSIS, Nature genetics, 19(1), 1998, pp. 70-73
MOLECULAR ANALYSIS OF THE PDS GENE IN PENDRED-SYNDROME (SENSORINEURALHEARING-LOSS AND GOITER)
Authors: COYLE B REARDON W HERBRICK JA TSUI LC GAUSDEN E LEE J COFFEY R GRUETERS A GROSSMAN A PHELPS PD LUXON L KENDALLTAYLOR P SCHERER SW TREMBATH RC
Citation: B. Coyle et al., MOLECULAR ANALYSIS OF THE PDS GENE IN PENDRED-SYNDROME (SENSORINEURALHEARING-LOSS AND GOITER), Human molecular genetics (Print), 7(7), 1998, pp. 1105-1112
FRONTONASAL DYSPLASIA WITH OPTIC DISC ANOMALIES AND OTHER MIDLINE CRANIOFACIAL DEFECTS - A REPORT OF 6 CASES
Authors: LEES MM HODGKINS P REARDON W TAYLOR D STANHOPE R JONES B HAYWARD R HOCKLEY AD BARAITSER M WINTER RM
Citation: Mm. Lees et al., FRONTONASAL DYSPLASIA WITH OPTIC DISC ANOMALIES AND OTHER MIDLINE CRANIOFACIAL DEFECTS - A REPORT OF 6 CASES, Clinical dysmorphology, 7(3), 1998, pp. 157-162
CONNEXIN-26 GENE MUTATION AND AUTOSOMAL RECESSIVE DEAFNESS
Authors: REARDON W
Citation: W. Reardon, CONNEXIN-26 GENE MUTATION AND AUTOSOMAL RECESSIVE DEAFNESS, Lancet, 351(9100), 1998, pp. 383-384
CELLULAR LOCATION OF PENDRED SYNDROME GENE-EXPRESSION IN THYROID GOITER BY MESSENGER-RNA IN-SITU HYBRIDIZATION
Authors: PRINGLE JH SHAW JA GILLIES A COYLE B REARDON W TREMBATH R
Citation: Jh. Pringle et al., CELLULAR LOCATION OF PENDRED SYNDROME GENE-EXPRESSION IN THYROID GOITER BY MESSENGER-RNA IN-SITU HYBRIDIZATION, Journal of pathology, 186, 1998, pp. 3-3
CRANIOSYNOSTOSIS AND CHROMOSOME 22Q11 DELETION
Authors: DEAN JCS DESILVA DC REARDON W
Citation: Jcs. Dean et al., CRANIOSYNOSTOSIS AND CHROMOSOME 22Q11 DELETION, Journal of Medical Genetics, 35(4), 1998, pp. 346-346
RADIOLOGICAL MALFORMATIONS OF THE EAR IN PENDRED-SYNDROME
Authors: PHELPS PD COFFEY RA TREMBATH RC LUXON LM GROSSMAN AB BRITTON KE KENDALLTAYLOR P GRAHAM JM CADGE BC STEPHENS SGD PEMBREY ME REARDON W
Citation: Pd. Phelps et al., RADIOLOGICAL MALFORMATIONS OF THE EAR IN PENDRED-SYNDROME, Clinical Radiology, 53(4), 1998, pp. 268-273
OPTIC DISC ANOMALIES AND FRONTONASAL DYSPLASIA
Authors: HODGKINS P LEES M LAWSON J REARDON W LEITCH J THOROGOOD P WINTER RM TAYLOR DSI
Citation: P. Hodgkins et al., OPTIC DISC ANOMALIES AND FRONTONASAL DYSPLASIA, British journal of ophthalmology, 82(3), 1998, pp. 290-293
DELETIONS IN HOXD13 SEGREGATE WITH AN IDENTICAL, NOVEL FOOT MALFORMATION IN 2 UNRELATED FAMILIES
Authors: GOODMAN F GIOVANNUCCIUZIELLI ML HALL C REARDON W WINTER R SCAMBLER P
Citation: F. Goodman et al., DELETIONS IN HOXD13 SEGREGATE WITH AN IDENTICAL, NOVEL FOOT MALFORMATION IN 2 UNRELATED FAMILIES, American journal of human genetics, 63(4), 1998, pp. 992-1000
PENDRED-SYNDROME - 100 YEARS OF UNDERASCERTAINMENT
Authors: REARDON W COFFEY R PHELPS PD LUXON LM STEPHENS D KENDALLTAYLOR P BRITTON KE GROSSMAN A TREMBATH R
Citation: W. Reardon et al., PENDRED-SYNDROME - 100 YEARS OF UNDERASCERTAINMENT, Quarterly Journal of Medicine, 90(7), 1997, pp. 443-447
MUTATIONS IN CDMP1 CAUSE AUTOSOMAL-DOMINANT BRACHYDACTYLY TYPE-C
Authors: POLINKOVSKY A ROBIN NH THOMAS JT IRONS M LYNN A GOODMAN FR REARDON W KANT SG BRUNNER HG VANDERBURGT I CHITAYAT D MCGAUGHRAN J DONNAI D LUYTEN FP WARMAN ML
Citation: A. Polinkovsky et al., MUTATIONS IN CDMP1 CAUSE AUTOSOMAL-DOMINANT BRACHYDACTYLY TYPE-C, Nature genetics, 17(1), 1997, pp. 18-19
THE TWIST GENE, ALTHOUGH NOT DISRUPTED IN SAETHRE-CHOTZEN PATIENTS WITH APPARENTLY BALANCED TRANSLOCATIONS OF 7P21, IS MUTATED IN FAMILIAL AND SPORADIC CASES
Authors: ROSE CSP PATEL P REARDON W MALCOLM S WINTER RM
Citation: Csp. Rose et al., THE TWIST GENE, ALTHOUGH NOT DISRUPTED IN SAETHRE-CHOTZEN PATIENTS WITH APPARENTLY BALANCED TRANSLOCATIONS OF 7P21, IS MUTATED IN FAMILIAL AND SPORADIC CASES, Human molecular genetics, 6(8), 1997, pp. 1369-1373
ELASTIN - GENOMIC STRUCTURE AND POINT MUTATIONS IN PATIENTS WITH SUPRAVALVULAR AORTIC-STENOSIS
Authors: TASSABEHJI M METCALFE K DONNAI D HURST J REARDON W BURCH M READ AP
Citation: M. Tassabehji et al., ELASTIN - GENOMIC STRUCTURE AND POINT MUTATIONS IN PATIENTS WITH SUPRAVALVULAR AORTIC-STENOSIS, Human molecular genetics, 6(7), 1997, pp. 1029-1036
SYNPOLYDACTYLY PHENOTYPES CORRELATE WITH SIZE OF EXPANSIONS IN HOXD13POLYALANINE TRACT
Authors: GOODMAN FR MUNDLOS S MURAGAKI Y DONNAI D GIOVANNUCCIUZIELLI ML LAPI E MAJEWSKI F MCGAUGHRAN J MCKEOWN C REARDON W UPTON J WINTER RM OLSEN BR SCHAMBLER PJ
Citation: Fr. Goodman et al., SYNPOLYDACTYLY PHENOTYPES CORRELATE WITH SIZE OF EXPANSIONS IN HOXD13POLYALANINE TRACT, Proceedings of the National Academy of Sciences of the United Statesof America, 94(14), 1997, pp. 7458-7463
CRANIOSYNOSTOSIS ASSOCIATED WITH FGFR3 PRO250ARG MUTATION RESULTS IN A RANGE OF CLINICAL PRESENTATIONS INCLUDING UNISUTURAL SPORADIC CRANIOSYNOSTOSIS
Authors: REARDON W WILKES D RUTLAND P PULLEYN LJ MALCOLM S DEAN JCS EVANS RD JONES BM HAYWARD R HALL CM NEVIN NC BARAITSER M WINTER RM
Citation: W. Reardon et al., CRANIOSYNOSTOSIS ASSOCIATED WITH FGFR3 PRO250ARG MUTATION RESULTS IN A RANGE OF CLINICAL PRESENTATIONS INCLUDING UNISUTURAL SPORADIC CRANIOSYNOSTOSIS, Journal of Medical Genetics, 34(8), 1997, pp. 632-636
FLUORESCENT IN-SITU HYBRIDIZATION (FISH) FOR HEMIZYGOTIC DELETION AT THE ELASTIN LOCUS IN PATIENTS WITH ISOLATED SUPRAVALVULAR AORTIC-STENOSIS
Authors: FRYSSIRA H PALMER R HALLIDIESMITH KA TAYLOR J DONNAI D REARDON W
Citation: H. Fryssira et al., FLUORESCENT IN-SITU HYBRIDIZATION (FISH) FOR HEMIZYGOTIC DELETION AT THE ELASTIN LOCUS IN PATIENTS WITH ISOLATED SUPRAVALVULAR AORTIC-STENOSIS, Journal of Medical Genetics, 34(4), 1997, pp. 306-308
PENDRED SYNDROME - EVIDENCE FOR GENETIC HOMOGENEITY AND FURTHER REFINEMENT OF LINKAGE
Authors: GAUSDEN E COYLE B ARMOUR JAL COFFEY R GROSSMAN A FRASER GR WINTER RM PEMBREY ME KENDALLTAYLOR P STEPHENS D LUXON LM PHELPS PD REARDON W TREMBATH R
Citation: E. Gausden et al., PENDRED SYNDROME - EVIDENCE FOR GENETIC HOMOGENEITY AND FURTHER REFINEMENT OF LINKAGE, Journal of Medical Genetics, 34(2), 1997, pp. 126-129
NOVEL LIMB PHENOTYPE SEGREGATING WITH DELETIONS IN HOXD13
Authors: GOODMAN F GIOVANNUCCIUZIELLI ML REARDON W WINTER RM SCAMBLER PJ
Citation: F. Goodman et al., NOVEL LIMB PHENOTYPE SEGREGATING WITH DELETIONS IN HOXD13, Journal of Medical Genetics, 34, 1997, pp. 41-41
GENOTYPE-PHENOTYPE CORRELATIONS IN WILLIAMS-SYNDROME
Authors: TASSABEHJI M KARMILOFFSMITH A GRANT J DONNAI D DENNIS N SPLITT M REARDON W OSBORNE L READ AP METCALFE K
Citation: M. Tassabehji et al., GENOTYPE-PHENOTYPE CORRELATIONS IN WILLIAMS-SYNDROME, American journal of human genetics, 61(4), 1997, pp. 11-11
BRACHYDACTYLY TYPE-C IS CAUSED BY MUTATIONS IN THE MORPHOGEN CDMP-1
Authors: ROBIN NH POLINKOVSKY A GUNAYAYGUN M THOMAS JT IRONS M LYNN A GOODMAN FR REARDON W KANT SG BRUNNER HG VANDERBURGT I CHITAYAT D MORRISON S LUYTEN FP WARMAN ML
Citation: Nh. Robin et al., BRACHYDACTYLY TYPE-C IS CAUSED BY MUTATIONS IN THE MORPHOGEN CDMP-1, American journal of human genetics, 61(4), 1997, pp. 251-251
A NOVEL INHERITED HUMAN LIMB MALFORMATION CAUSED BY DELETIONS IN HOXD13
Authors: GOODMAN FR GIOVANNUCCIUZIELLI ML REARDON W WINTER RM SCAMBLER PJ
Citation: Fr. Goodman et al., A NOVEL INHERITED HUMAN LIMB MALFORMATION CAUSED BY DELETIONS IN HOXD13, American journal of human genetics, 61(4), 1997, pp. 875-875
MOLECULAR PATHOLOGY OF SUPRAVALVULAR AORTIC-STENOSIS
Authors: METCALFE KA SMOOT LB DENNIS NR DONNAI D REARDON W READ APR TASSABEHJI M
Citation: Ka. Metcalfe et al., MOLECULAR PATHOLOGY OF SUPRAVALVULAR AORTIC-STENOSIS, American journal of human genetics, 61(4), 1997, pp. 1990-1990
PENDRED SYNDROME (GOITER AND SENSORINEURAL HEARING-LOSS) MAPS TO CHROMOSOME-7 IN THE REGION CONTAINING THE NONSYNDROMIC DEAFNESS GENE DFNB4
Authors: COYLE B COFFEY R ARMOUR JAL GAUSDEN E HOCHBERG Z GROSSMAN A BRITTON K PEMBREY M REARDON W TREMBATH R
Citation: B. Coyle et al., PENDRED SYNDROME (GOITER AND SENSORINEURAL HEARING-LOSS) MAPS TO CHROMOSOME-7 IN THE REGION CONTAINING THE NONSYNDROMIC DEAFNESS GENE DFNB4, Nature genetics, 12(4), 1996, pp. 421-423
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