Authors:
UPADHYAYA M
RUGGIERI M
MAYNARD J
OSBORN M
HARTOG C
MUDD S
PENTTINEN M
CORDEIRO I
PONDER M
PONDER BAJ
KRAWCZAK M
COOPER DN
Citation: M. Upadhyaya et al., GROSS DELETIONS OF THE NEUROFIBROMATOSIS TYPE-1 (NF1) GENE ARE PREDOMINANTLY OF MATERNAL ORIGIN AND COMMONLY ASSOCIATED WITH A LEARNING-DISABILITY, DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY, Human genetics, 102(5), 1998, pp. 591-597
Citation: J. Maynard et al., CHARACTERIZATION AND SIGNIFICANCE OF 9 NOVEL MUTATIONS IN EXON-16 OF THE NEUROFIBROMATOSIS TYPE-1 (NF1) GENE, Human genetics, 99(5), 1997, pp. 674-676
Authors:
CHUNSUTTIWAT S
BIGGS BA
MAYNARD J
THAMAPALO S
LAOBORIPAT S
BOVORNSIN S
CHARANASRI U
PINYOWIWAT W
KUNASOL P
Citation: S. Chunsuttiwat et al., INTEGRATION OF HEPATITIS-B VACCINATION INTO THE EXPANDED PROGRAM ON IMMUNIZATION IN CHONBURI AND CHIANG-MAI PROVINCES, THAILAND, Vaccine, 15(6-7), 1997, pp. 769-774
Authors:
UPADHYAYA M
MAYNARD J
ROGERS MT
LUNT PW
JARDINE P
RAVINE D
HARPER PS
Citation: M. Upadhyaya et al., IMPROVED MOLECULAR DIAGNOSIS OF FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD) - VALIDATION OF THE DIFFERENTIAL DOUBLE DIGESTION FOR FSHD, Journal of Medical Genetics, 34(6), 1997, pp. 476-479
Citation: Mj. Osborn et al., 2 NOVEL SPLICING MUTATIONS IN THE NF1 GENE RESULTING IN AN ADDITIONALTRANSLATED EXON AND AXON SKIPPING, American journal of human genetics, 61(4), 1997, pp. 415-415
Authors:
UPADHYAYA M
MAYNARD J
RUGGIERI M
HUSON S
PONDER M
KRAWCZAK M
PONDER BAJ
COOPER DN
Citation: M. Upadhyaya et al., A SEX BIAS IN THE ORIGIN OF NEW MUTATIONS IN THE NF1 GENE - THE NATURE OF MUTATIONS AND THEIR POSSIBLE MOLECULAR MECHANISMS, American journal of human genetics, 61(4), 1997, pp. 2045-2045
Citation: M. Upadhyaya et al., CHARACTERIZATION OF 6 MUTATIONS IN EXON-37 OF NEUROFIBROMATOSIS TYPE-1 GENE, American journal of medical genetics, 67(4), 1996, pp. 421-423
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
Authors:
LUNT PW
JARDINE PE
KOCH MC
MAYNARD J
OSBORN M
WILLIAMS M
HARPER PS
UPADHYAYA M
Citation: Pw. Lunt et al., CORRELATION BETWEEN FRAGMENT SIZE AT D4F104S1 AND AGE AT ONSET OR AT WHEELCHAIR USE, WITH A POSSIBLE GENERATIONAL-EFFECT, ACCOUNTS FOR MUCHPHENOTYPIC VARIATION IN 4Q35-FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD) (VOL 4, PG 951, 1995), Human molecular genetics, 4(7), 1995, pp. 1243-1244
Authors:
LUNT PW
JARDINE PE
KOCH MC
MAYNARD J
OSBORN M
WILLIAMS M
HARPER PS
UPADHYAYA M
Citation: Pw. Lunt et al., CORRELATION BETWEEN FRAGMENT SIZE AT D4F104S1 AND AGE AT ONSET OR AT WHEELCHAIR USE, WITH A POSSIBLE GENERATIONAL-EFFECT, ACCOUNTS FOR MUCHPHENOTYPIC VARIATION IN 4Q35-FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD), Human molecular genetics, 4(5), 1995, pp. 951-958
Authors:
UPADHYAYA M
OSBORN M
MAYNARD J
ALTHERR M
IKEDA J
HARPER PS
Citation: M. Upadhyaya et al., TOWARDS THE FINER MAPPING OF FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY AT 4Q35 - CONSTRUCTION OF A LASER MICRODISSECTION LIBRARY, American journal of medical genetics, 60(3), 1995, pp. 244-251
Authors:
LUNT PW
JARDINE PE
KOCH M
MAYNARD J
OSBORN M
WILLIAMS M
HARPER PS
UPADHYAYA M
Citation: Pw. Lunt et al., PHENOTYPIC GENOTYPIC CORRELATION WILL ASSIST GENETIC-COUNSELING IN 4Q35-FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY, Muscle & nerve, 1995, pp. 103-109