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Results: 1-25 | 26-48
Results: 1-25/48
SOX10 MUTATIONS IN PATIENTS WITH WAARDENBURG-HIRSCHSPRUNG-DISEASE
Authors: PINGAULT V BONDURAND N KUHLBRODT K GOERICH DE PREHU MO PULITI A HERBARTH B HERMANSBORGMEYER I LEGIUS E MATTHIJS G AMIEL J LYONNET S CECCHERINI I ROMEO G SMITH JC READ AP WEGNER M GOOSSENS M
Citation: V. Pingault et al., SOX10 MUTATIONS IN PATIENTS WITH WAARDENBURG-HIRSCHSPRUNG-DISEASE, Nature genetics, 18(2), 1998, pp. 171-173
MUTATIONS OF THE SOX10 GENE IN WAARDENBURG-HIRSCHSPRUNG-DISEASE
Authors: PINGAULT V BONDURAND N KUHLBRODT K GOERICH DE PREHU MO PULITI A LEMORT N LEGIUS E MATTHIJS G AMIEL J LYONNET S CECCHERINI I ROMEO G CLAYTONSMITH J READ AP WEGNER M GOOSSENS M
Citation: V. Pingault et al., MUTATIONS OF THE SOX10 GENE IN WAARDENBURG-HIRSCHSPRUNG-DISEASE, European journal of human genetics, 6, 1998, pp. 402-402
X-LINKED HYPOPHOSPHATEMIC RICKETS - PEX GENE-EXPRESSION AND MUTATIONS
Authors: RUCKA AK TASSABEHJI M DAVIES M MAWER EB READ AP
Citation: Ak. Rucka et al., X-LINKED HYPOPHOSPHATEMIC RICKETS - PEX GENE-EXPRESSION AND MUTATIONS, European journal of human genetics, 6, 1998, pp. 4240-4240
AN ELASTIN GENE MUTATION PRODUCING ABNORMAL TROPOELASTIN AND ABNORMALELASTIC FIBERS IN A PATIENT WITH AUTOSOMAL-DOMINANT CUTIS LAXA
Authors: TASSABEHJI M METCALFE K HURST J ASHCROFT GS KIELTY C WILMOT C DONNAI D READ AP JONES CJP
Citation: M. Tassabehji et al., AN ELASTIN GENE MUTATION PRODUCING ABNORMAL TROPOELASTIN AND ABNORMALELASTIC FIBERS IN A PATIENT WITH AUTOSOMAL-DOMINANT CUTIS LAXA, Human molecular genetics, 7(6), 1998, pp. 1021-1028
MUTATION OF THE MITF GENE IN ALBINISM-DEAFNESS SYNDROME (TIETZ-SYNDROME)
Authors: AMIEL J WATKIN PM TASSABEHJI M READ AP WINTER RM
Citation: J. Amiel et al., MUTATION OF THE MITF GENE IN ALBINISM-DEAFNESS SYNDROME (TIETZ-SYNDROME), Clinical dysmorphology, 7(1), 1998, pp. 17-20
CORRELATION BETWEEN WAARDENBURG-SYNDROME PHENOTYPE AND GENOTYPE IN A POPULATION OF INDIVIDUALS WITH IDENTIFIED PAX3 MUTATIONS
Authors: DESTEFANO AL CUPPLES LA ARNOS KS ASHER JH BALDWIN CT BLANTON S CAREY ML DASILVA EO FRIEDMAN TB GREENBERG J LALWANI AK MILUNSKY A NANCE WE PANDYA A RAMESAR RS READ AP TASSABEJHI M WILCOX ER FARRER LA
Citation: Al. Destefano et al., CORRELATION BETWEEN WAARDENBURG-SYNDROME PHENOTYPE AND GENOTYPE IN A POPULATION OF INDIVIDUALS WITH IDENTIFIED PAX3 MUTATIONS, Human genetics, 102(5), 1998, pp. 499-506
DIFFERENTIAL-DIAGNOSIS OF TYPE-2 NEUROFIBROMATOSIS - MOLECULAR DISCRIMINATION OF NF2 AND SPORADIC VESTIBULAR SCHWANNOMAS
Authors: WU CL THAKKER N NEARY W BLACK G LYE R RAMSDEN RT READ AP EVANS DGR
Citation: Cl. Wu et al., DIFFERENTIAL-DIAGNOSIS OF TYPE-2 NEUROFIBROMATOSIS - MOLECULAR DISCRIMINATION OF NF2 AND SPORADIC VESTIBULAR SCHWANNOMAS, Journal of Medical Genetics, 35(12), 1998, pp. 973-977
MOLECULAR-BIOLOGY AND THE ENT SURGEON IN THE MILLENNIUM
Authors: READ AP
Citation: Ap. Read, MOLECULAR-BIOLOGY AND THE ENT SURGEON IN THE MILLENNIUM, Journal of Laryngology and Otology, 112(1), 1998, pp. 4-10
DELETION MAPPING DEFINES 3 DISCRETE AREAS OF ALLELIC IMBALANCE CON CHROMOSOME ARM 8P IN ORAL AND OROPHARYNGEAL SQUAMOUS-CELL CARCINOMAS
Authors: WU CL ROZ L SLOAN P READ AP HOLLAND S PORTER S SCULLY C SPEIGHT PM THAKKER N
Citation: Cl. Wu et al., DELETION MAPPING DEFINES 3 DISCRETE AREAS OF ALLELIC IMBALANCE CON CHROMOSOME ARM 8P IN ORAL AND OROPHARYNGEAL SQUAMOUS-CELL CARCINOMAS, Genes, chromosomes & cancer, 20(4), 1997, pp. 347-353
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
DISTRIBUTION OF MUTATIONS IN THE PEX GENE IN FAMILIES WITH X-LINKED HYPOPHOSPHATEMIC RICKETS (HYP)
Authors: ROWE PSN OUDET CL FRANCIS F SINDING C PANNETIER S ECONS MJ STROM TM MEITINGER T GARABEDIAN M DAVID A MACHER MA QUESTIAUX E POPOWSKA E PRONICKA E READ AP MOKRZYCKI A GLORIEUX FH DREZNER MK HANAUER A LEHRACH H GOULDING JN ORIORDAN JLH
Citation: Psn. Rowe et al., DISTRIBUTION OF MUTATIONS IN THE PEX GENE IN FAMILIES WITH X-LINKED HYPOPHOSPHATEMIC RICKETS (HYP), Human molecular genetics, 6(4), 1997, pp. 539-549
THE EUROPEAN CONSORTIUM ON MEN1 - LINKAGE DISEQUILIBRIUM STUDIES IN MULTIPLE ENDOCRINE NEOPLASIA TYPE-1 (MEN1)
Authors: BASSETT JHD PANNETT AAJ FORBES SA THAKKER RV MCCARTHY M READ AP TEH BT LARSSON C KYTOLA S LEISTI J SALMELA P WEBER G GIRAUD S ZHANG CX CALENDER A HOPPENER JWM VANAMSTEL HKP LIPS CJM KAS K VANDEVEN WJM GAUDRAY P
Citation: Jhd. Bassett et al., THE EUROPEAN CONSORTIUM ON MEN1 - LINKAGE DISEQUILIBRIUM STUDIES IN MULTIPLE ENDOCRINE NEOPLASIA TYPE-1 (MEN1), Human genetics, 100(5-6), 1997, pp. 657-665
OLYMPIC FREAK-SHOW
Authors: READ AP
Citation: Ap. Read, OLYMPIC FREAK-SHOW, British journal of sports medicine, 31(4), 1997, pp. 331-331
CLONING FOR GOLD
Authors: READ AP
Citation: Ap. Read, CLONING FOR GOLD, British journal of sports medicine, 31(3), 1997, pp. 174-174
WAARDENBURG-SYNDROME
Authors: READ AP NEWTON VE
Citation: Ap. Read et Ve. Newton, WAARDENBURG-SYNDROME, Journal of Medical Genetics, 34(8), 1997, pp. 656-665
LIMK1 HEMIZYGOSITY DOES NOT CONTRIBUTE TO THE WILLIAMS-SYNDROME COGNITIVE PROFILE
Authors: TASSABEHJI M GLADWIN AJ KARMILOFFSMITH A DONNAI D DENNIS N SPLITT M READ AP METCALFE K
Citation: M. Tassabehji et al., LIMK1 HEMIZYGOSITY DOES NOT CONTRIBUTE TO THE WILLIAMS-SYNDROME COGNITIVE PROFILE, Journal of Medical Genetics, 34, 1997, pp. 534-534
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
LONDON DYSMORPHOLOGY DATABASE
Authors: READ AP SMITH JC
Citation: Ap. Read et Jc. Smith, LONDON DYSMORPHOLOGY DATABASE, Molecular medicine today, 2(1), 1996, pp. 7-7
LONDON NEUROGENETICS DATABASE
Authors: READ AP SMITH JC
Citation: Ap. Read et Jc. Smith, LONDON NEUROGENETICS DATABASE, Molecular medicine today, 2(1), 1996, pp. 7-7
HUMAN CYTOGENETICS DATABASE
Authors: READ AP SMITH JC
Citation: Ap. Read et Jc. Smith, HUMAN CYTOGENETICS DATABASE, Molecular medicine today, 2(1), 1996, pp. 7-7
LIM-KINASE DELETED IN WILLIAMS-SYNDROME
Authors: TASSABEHJI M METCALFE K FERGUSSON WD CARETTE MJA DORE JK DONNAI D READ AP PROSCHEL C GUTOWSKI NJ MAO X SHEER D
Citation: M. Tassabehji et al., LIM-KINASE DELETED IN WILLIAMS-SYNDROME, Nature genetics, 13(3), 1996, pp. 272-273
MUTATIONS IN THE PEX GENE - EVIDENCE FOR ALTERATIONS IN GENE-FUNCTION, AND IMPLICATIONS FOR X-LINKED RICKETS (HYP)
Authors: ROWE PSM GOULDING JN FRANCIS F OUDET C STROM T ECONS M MOKRYCZKI A READ AP ORIORDAN JLH
Citation: Psm. Rowe et al., MUTATIONS IN THE PEX GENE - EVIDENCE FOR ALTERATIONS IN GENE-FUNCTION, AND IMPLICATIONS FOR X-LINKED RICKETS (HYP), Journal of bone and mineral research, 11(11), 1996, pp. 12-12
THE GENE FOR X-LINKED HYPOPHOSPHATEMIC RICKETS MAPS TO A 200-300 KB REGION IN XP22.1, AND IS LOCATED ON A SINGLE YAC CONTAINING A PUTATIVE VITAMIN-D RESPONSE ELEMENT (VDRE)
Authors: ROWE PSN GOULDING JN FRANCIS F OUDET C ECONS MJ HANAUER A LEHRACH H READ AP MOUNTFORD RC SUMMERFIELD T WEISSENBACH J FRASER W DREZNER MK DAVIES KE ORIORDAN JLH
Citation: Psn. Rowe et al., THE GENE FOR X-LINKED HYPOPHOSPHATEMIC RICKETS MAPS TO A 200-300 KB REGION IN XP22.1, AND IS LOCATED ON A SINGLE YAC CONTAINING A PUTATIVE VITAMIN-D RESPONSE ELEMENT (VDRE), Human genetics, 97(3), 1996, pp. 345-352
PAX GENES - PAIRED FEET IN 3 CAMPS
Authors: READ AP
Citation: Ap. Read, PAX GENES - PAIRED FEET IN 3 CAMPS, Nature genetics, 9(4), 1995, pp. 333-334
A GENE (PEX) WITH HOMOLOGIES TO ENDOPEPTIDASES IS MUTATED IN PATIENTSWITH X-LINKED HYPOPHOSPHATEMIC RICKETS
Authors: FRANCIS F HENNIG S KORN B REINHARDT R DEJONG P POUSTKA A LEHRACH H ROWE PSN GOULDING JN SUMMERFIELD T MOUNTFORD R READ AP POPOWSKA E PRONICKA E DAVIES KE ORIORDAN JLH ECONS MJ NESBITT T DREZNER MK OUDET C PANNETIER S HANAUER A STROM TM MEINDL A LORENZ B CAGNOLI M MOHNIKE KL MURKEN J MEITINGER T
Citation: F. Francis et al., A GENE (PEX) WITH HOMOLOGIES TO ENDOPEPTIDASES IS MUTATED IN PATIENTSWITH X-LINKED HYPOPHOSPHATEMIC RICKETS, Nature genetics, 11(2), 1995, pp. 130-136
Risultati: 1-25 | 26-48