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Results: 1-25 | 26-49
Results: 1-25/49
APERT SYNDROME MUTATIONS IN FIBROBLAST-GROWTH-FACTOR RECEPTOR-2 EXHIBIT INCREASED AFFINITY FOR FGF LIGAND
Authors: ANDERSON J BURNS HD ENRIQUEZHARRIS P WILKIE AOM HEATH JK
Citation: J. Anderson et al., APERT SYNDROME MUTATIONS IN FIBROBLAST-GROWTH-FACTOR RECEPTOR-2 EXHIBIT INCREASED AFFINITY FOR FGF LIGAND, Human molecular genetics (Print), 7(9), 1998, pp. 1475-1483
CONSERVED USE OF A NONCANONICAL 5'-SPLICE-SITE ( GA) IN ALTERNATIVE SPLICING BY FIBROBLAST GROWTH-FACTOR RECEPTOR-1, RECEPTOR-2 AND RECEPTOR-3/
Authors: TWIGG SRF BURNS HD OLDRIDGE M HEATH JK WILKIE AOM
Citation: Srf. Twigg et al., CONSERVED USE OF A NONCANONICAL 5'-SPLICE-SITE ( GA) IN ALTERNATIVE SPLICING BY FIBROBLAST GROWTH-FACTOR RECEPTOR-1, RECEPTOR-2 AND RECEPTOR-3/, Human molecular genetics, 7(4), 1998, pp. 685-691
EPIDERMAL MOSAICISM PRODUCING LOCALIZED ACNE - SOMATIC MUTATION IN FGFR2
Authors: MUNRO CS WILKIE AOM
Citation: Cs. Munro et Aom. Wilkie, EPIDERMAL MOSAICISM PRODUCING LOCALIZED ACNE - SOMATIC MUTATION IN FGFR2, Lancet, 352(9129), 1998, pp. 704-705
ACTH RECEPTOR MUTATION IN A GIRL WITH FAMILIAL GLUCOCORTICOID DEFICIENCY
Authors: SLAVOTINEK AM HURST JA DUNGER D WILKIE AOM
Citation: Am. Slavotinek et al., ACTH RECEPTOR MUTATION IN A GIRL WITH FAMILIAL GLUCOCORTICOID DEFICIENCY, Clinical genetics, 53(1), 1998, pp. 57-62
DOMINANT INHERITANCE OF OPTIC PITS
Authors: RAGGE NK RAVINE D WILKIE AOM
Citation: Nk. Ragge et al., DOMINANT INHERITANCE OF OPTIC PITS, American journal of ophthalmology, 125(1), 1998, pp. 124-124
A COMPREHENSIVE SCREEN FOR TWIST MUTATIONS IN PATIENTS WITH CRANIOSYNOSTOSIS IDENTIFIES A NEW MICRODELETION SYNDROME OF CHROMOSOME BAND 7P21.1
Authors: JOHNSON D HORSLEY SW MOLONEY DM OLDRIDGE M TWIGG SRF WALSH S BARROW M NJOLSTAD PR KUNZ J ASHWORTH GJ WALL SA KEARNEY L WILKIE AOM
Citation: D. Johnson et al., A COMPREHENSIVE SCREEN FOR TWIST MUTATIONS IN PATIENTS WITH CRANIOSYNOSTOSIS IDENTIFIES A NEW MICRODELETION SYNDROME OF CHROMOSOME BAND 7P21.1, American journal of human genetics, 63(5), 1998, pp. 1282-1293
A NOVEL PHENOTYPIC PATTERN IN X-LINKED INHERITANCE - CRANIOFRONTONASAL SYNDROME MAPS TO XP22
Authors: FELDMAN GJ WARD DE LAJEUNIERENIER E SAAVEDRA D ROBIN NH PROUD V ROBB LJ KALOUSTIAN VD CAREY JC COHEN MM CORMIER V MUNNICH A ZACKAI EH WILKIE AOM PRICE RA MUENKE M
Citation: Gj. Feldman et al., A NOVEL PHENOTYPIC PATTERN IN X-LINKED INHERITANCE - CRANIOFRONTONASAL SYNDROME MAPS TO XP22, Human molecular genetics, 6(11), 1997, pp. 1937-1941
CRANIOSYNOSTOSIS - GENES AND MECHANISMS
Authors: WILKIE AOM
Citation: Aom. Wilkie, CRANIOSYNOSTOSIS - GENES AND MECHANISMS, Human molecular genetics, 6(10), 1997, pp. 1647-1656
GENOTYPE-PHENOTYPE CORRELATION FOR NUCLEOTIDE SUBSTITUTIONS IN THE IGII-IGIII LINKER OF FGFR2
Authors: OLDRIDGE M LUNT PW ZACKAI EH MCDONALDMCGINN DM MUENKE M MOLONEY DM TWIGG SRF HEATH JK HOWARD TD HOGANSON G GAGNON DM JABS EW WILKIE AOM
Citation: M. Oldridge et al., GENOTYPE-PHENOTYPE CORRELATION FOR NUCLEOTIDE SUBSTITUTIONS IN THE IGII-IGIII LINKER OF FGFR2, Human molecular genetics, 6(1), 1997, pp. 137-143
FGFR2 AND OSTEOPONTIN DOMAINS IN THE DEVELOPING SKULL VAULT ARE MUTUALLY EXCLUSIVE AND CAN BE ALTERED BY LOCALLY APPLIED FGF2
Authors: ISEKI S WILKIE AOM HEATH JK ISHIMARU T ETO K MORRISSKAY GM
Citation: S. Iseki et al., FGFR2 AND OSTEOPONTIN DOMAINS IN THE DEVELOPING SKULL VAULT ARE MUTUALLY EXCLUSIVE AND CAN BE ALTERED BY LOCALLY APPLIED FGF2, Development, 124(17), 1997, pp. 3375-3384
DOMINANT COLOBOMA-MICROPHTHALMOS SYNDROME-ASSOCIATED WITH SENSORINEURAL HEARING-LOSS, HEMATURIA, AND CLEFT LIP PALATE/
Authors: RAVINE D RAGGE NK STEPHENS D OLDRIDGE M WILKIE AOM
Citation: D. Ravine et al., DOMINANT COLOBOMA-MICROPHTHALMOS SYNDROME-ASSOCIATED WITH SENSORINEURAL HEARING-LOSS, HEMATURIA, AND CLEFT LIP PALATE/, American journal of medical genetics, 72(2), 1997, pp. 227-236
INTERSTITIAL DELETION OF 2Q ASSOCIATED WITH CRANIOSYNOSTOSIS, OCULAR COLOBOMA, AND LIMB ABNORMALITIES - CYTOGENETIC AND MOLECULAR INVESTIGATION
Authors: NIXON J OLDRIDGE M WILKIE AOM SMITH K
Citation: J. Nixon et al., INTERSTITIAL DELETION OF 2Q ASSOCIATED WITH CRANIOSYNOSTOSIS, OCULAR COLOBOMA, AND LIMB ABNORMALITIES - CYTOGENETIC AND MOLECULAR INVESTIGATION, American journal of medical genetics, 70(3), 1997, pp. 324-327
PATTERSON-STEVENSON-FONTAINE SYNDROME - 30-YEAR FOLLOW-UP AND CLINICAL DETAILS OF A FURTHER AFFECTED CASE
Authors: WILKIE AOM GOODACRE TEE
Citation: Aom. Wilkie et Tee. Goodacre, PATTERSON-STEVENSON-FONTAINE SYNDROME - 30-YEAR FOLLOW-UP AND CLINICAL DETAILS OF A FURTHER AFFECTED CASE, American journal of medical genetics, 69(4), 1997, pp. 433-434
PREVALENCE OF PRO250ARG MUTATION OF FIBROBLAST GROWTH-FACTOR RECEPTOR-3 IN CORONAL CRANIOSYNOSTOSIS
Authors: MOLONEY DM WALL SA ASHWORTH GJ OLDRIDGE M GLASS IA FRANCOMANO CA MUENKE M WILKIE AOM
Citation: Dm. Moloney et al., PREVALENCE OF PRO250ARG MUTATION OF FIBROBLAST GROWTH-FACTOR RECEPTOR-3 IN CORONAL CRANIOSYNOSTOSIS, Lancet, 349(9058), 1997, pp. 1059-1062
A NEW RECESSIVE CRANIOSYNOSTOSIS SYNDROME THAT DOES NOT MAP TO KNOWN CRANIOSYNOSTOSIS LOCI
Authors: BLAIR E OLDRIDGE M WALL SA WILKIE AOM
Citation: E. Blair et al., A NEW RECESSIVE CRANIOSYNOSTOSIS SYNDROME THAT DOES NOT MAP TO KNOWN CRANIOSYNOSTOSIS LOCI, Journal of Medical Genetics, 34, 1997, pp. 1007-1007
FIBROBLAST GROWTH-FACTOR-2 IN NORMAL AND ALTERED OSTEOGENESIS IN THE DEVELOPING MOUSE SKULL
Authors: ISEKI S ISHIMARU T WILKIE AOM HEATH JK ETO K MORRISSKAY GM
Citation: S. Iseki et al., FIBROBLAST GROWTH-FACTOR-2 IN NORMAL AND ALTERED OSTEOGENESIS IN THE DEVELOPING MOUSE SKULL, Developmental biology, 186(2), 1997, pp. 124-124
GENETIC-HETEROGENEITY IN HETEROCELLULAR HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN
Authors: CRAIG JE ROCHETTE J SAMPIETRO M WILKIE AOM BARNETSON R HATTON CSR DEMENAIS F THEIN SL
Citation: Je. Craig et al., GENETIC-HETEROGENEITY IN HETEROCELLULAR HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, Blood, 90(1), 1997, pp. 428-434
NOVEL VERTEBRATE 5'-SPLICE-SITE ( GA) IS USED IN ALTERNATIVE SPLICINGBY FIBROBLAST GROWTH-FACTOR RECEPTOR-1, RECEPTOR-2 AND RECEPTOR-3/
Authors: TWIGG SRF OLDRIDGE M HEATH JK WILKIE AOM
Citation: Srf. Twigg et al., NOVEL VERTEBRATE 5'-SPLICE-SITE ( GA) IS USED IN ALTERNATIVE SPLICINGBY FIBROBLAST GROWTH-FACTOR RECEPTOR-1, RECEPTOR-2 AND RECEPTOR-3/, American journal of human genetics, 61(4), 1997, pp. 121-121
A NOVEL PHENOTYPIC PATTERN IN X-LINKED INHERITANCE - CRANIOFRONTONASAL SYNDROME MAPS TO XP22
Authors: MUENKE M FELDMAN GJ WARD DE LAJEUNIERENIER E SAAVEDRA D ROBIN NH PROUD V ROBB LJ KALOUSTIAN VD CAREY JC COHEN MM CORMIER V MUNNICH A ZACKAI EH WILKIE AOM PRICE RA
Citation: M. Muenke et al., A NOVEL PHENOTYPIC PATTERN IN X-LINKED INHERITANCE - CRANIOFRONTONASAL SYNDROME MAPS TO XP22, American journal of human genetics, 61(4), 1997, pp. 255-255
A DE-NOVO ALU ELEMENT INSERTION INTO AN INTRON OF FGFR2 CAUSES APERT-SYNDROME
Authors: OLDRIDGE M MCDONALDMCGINN DM ZACKAL EH WILKIE AOM
Citation: M. Oldridge et al., A DE-NOVO ALU ELEMENT INSERTION INTO AN INTRON OF FGFR2 CAUSES APERT-SYNDROME, American journal of human genetics, 61(4), 1997, pp. 2003-2003
A UNIQUE POINT MUTATION IN THE FIBROBLAST-GROWTH-FACTOR-RECEPTOR-3 GENE (FGFR3) DEFINES A NEW CRANIOSYNOSTOSIS SYNDROME
Authors: MUENKE M GRIPP KW MCDONALDMCGINN DM GAUDENZ K WHITAKER LA BARTLETT SP MARKOWITZ RI ROBIN NH NWOKORO N MULVIHILL JJ LOSKEN HW MULLIKEN JB GUTTMACHER AE WILROY RS CLARKE LA HOLLWAY G ADES LC HAAN EA MULLEY JC COHEN MM BELLUS GA FRANCOMANO CA MOLONEY DM WALL SA WILKIE AOM ZACKAI EH
Citation: M. Muenke et al., A UNIQUE POINT MUTATION IN THE FIBROBLAST-GROWTH-FACTOR-RECEPTOR-3 GENE (FGFR3) DEFINES A NEW CRANIOSYNOSTOSIS SYNDROME, American journal of human genetics, 60(3), 1997, pp. 555-564
CRANIOSYNOSTOSIS - NOVEL INSIGHTS INTO PATHOGENESIS AND TREATMENT
Authors: WILKIE AOM WALL SA
Citation: Aom. Wilkie et Sa. Wall, CRANIOSYNOSTOSIS - NOVEL INSIGHTS INTO PATHOGENESIS AND TREATMENT, Current opinion in neurology, 9(2), 1996, pp. 146-152
EXCLUSIVE PATERNAL ORIGIN OF NEW MUTATIONS IN APERT SYNDROME
Authors: MOLONEY DM SLANEY SF OLDRIDGE M WALL SA SAHLIN P STENMAN G WILKIE AOM
Citation: Dm. Moloney et al., EXCLUSIVE PATERNAL ORIGIN OF NEW MUTATIONS IN APERT SYNDROME, Nature genetics, 13(1), 1996, pp. 48-53
GENETICS OF DISEASE
Authors: WEATHERALL DJ WILKIE AOM
Citation: Dj. Weatherall et Aom. Wilkie, GENETICS OF DISEASE, Current opinion in genetics & development, 6(3), 1996, pp. 271-274
A CYTOGENETIC DELETION, DEL(17)(Q11.22Q21.1), IN A PATIENT WITH SPORADIC NEUROFIBROMATOSIS TYPE-1 (NF1) ASSOCIATED WITH DYSMORPHISM AND DEVELOPMENTAL DELAY
Authors: UPADHYAYA M ROBERTS SH MAYNARD J SOROUR E THOMPSON PW VAUGHAN M WILKIE AOM HUGHES HE
Citation: M. Upadhyaya et al., A CYTOGENETIC DELETION, DEL(17)(Q11.22Q21.1), IN A PATIENT WITH SPORADIC NEUROFIBROMATOSIS TYPE-1 (NF1) ASSOCIATED WITH DYSMORPHISM AND DEVELOPMENTAL DELAY, Journal of Medical Genetics, 33(2), 1996, pp. 148-152
Risultati: 1-25 | 26-49