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Results: 1-12 |
Results: 12
THE SCLEROATROPHIC SYNDROME OF HURIEZ
Authors: KAVANAGH GM JARDINE PE PEACHEY RD MURRAY JC DEBERKER D
Citation: Gm. Kavanagh et al., THE SCLEROATROPHIC SYNDROME OF HURIEZ, British journal of dermatology, 137(1), 1997, pp. 114-118
DIAGNOSTIC TESTING IN FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD) REVEALS POSSIBLE 2-STEP MUTATION PROCESS
Authors: LUNT PW HILL H JARDINE PE KINGSTON H SCHAPIRA AVH NIGHTINGALE S TYFIELD LA
Citation: Pw. Lunt et al., DIAGNOSTIC TESTING IN FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD) REVEALS POSSIBLE 2-STEP MUTATION PROCESS, American journal of human genetics, 61(4), 1997, pp. 1836-1836
OCULAR INVOLVEMENT IN CONGENITAL MUSCULAR-DYSTROPHY
Authors: BUTCHER JM PARRY NRA HUGHES SL JARDINE PE LLOYD IC
Citation: Jm. Butcher et al., OCULAR INVOLVEMENT IN CONGENITAL MUSCULAR-DYSTROPHY, Investigative ophthalmology & visual science, 37(3), 1996, pp. 515-515
FAMILIAL BILATERAL PERIVENTRICULAR NODULAR HETEROTOPIA MIMICS TUBEROUS SCLEROSIS
Authors: JARDINE PE CLARKE MA SUPER M
Citation: Pe. Jardine et al., FAMILIAL BILATERAL PERIVENTRICULAR NODULAR HETEROTOPIA MIMICS TUBEROUS SCLEROSIS, Archives of Disease in Childhood, 74(3), 1996, pp. 244-246
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)
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
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)
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
PHENOTYPIC GENOTYPIC CORRELATION WILL ASSIST GENETIC-COUNSELING IN 4Q35-FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY
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
EVIDENCE THAT ANTICIPATION IN 4Q35 FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY MAY BE MODIFYING THE AGE AT ONSET AS CONTROLLED BY D4F104S1 FRAGMENT SIZE - A GENE INTERACTION
Authors: LUNT PW JARDINE PE KOCH KC MAYNARD J OSBORN M WILLIAMS M HARPER PS UPADHYAYA M
Citation: Pw. Lunt et al., EVIDENCE THAT ANTICIPATION IN 4Q35 FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY MAY BE MODIFYING THE AGE AT ONSET AS CONTROLLED BY D4F104S1 FRAGMENT SIZE - A GENE INTERACTION, American journal of human genetics, 57(4), 1995, pp. 1419-1419
A SCAPULAR ONSET MUSCULAR-DYSTROPHY WITHOUT FACIAL INVOLVEMENT - POSSIBLE ALLELISM WITH FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY
Authors: JARDINE PE UPADHYAYA M MAYNARD J HARPER P LUNT PW
Citation: Pe. Jardine et al., A SCAPULAR ONSET MUSCULAR-DYSTROPHY WITHOUT FACIAL INVOLVEMENT - POSSIBLE ALLELISM WITH FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY, Neuromuscular disorders, 4(5-6), 1994, pp. 477-482
PYRIDOXINE-REFRACTORY CONGENITAL SIDEROBLASTIC ANEMIA WITH EVIDENCE FOR AUTOSOMAL INHERITANCE - EXCLUSION OF LINKAGE TO ALAS2 AT XP11.21 BYPOLYMORPHISM ANALYSIS
Authors: JARDINE PE COTTER PD JOHNSON SA FITZSIMONS EJ TYFIELD L LUNT PW BISHOP DF
Citation: Pe. Jardine et al., PYRIDOXINE-REFRACTORY CONGENITAL SIDEROBLASTIC ANEMIA WITH EVIDENCE FOR AUTOSOMAL INHERITANCE - EXCLUSION OF LINKAGE TO ALAS2 AT XP11.21 BYPOLYMORPHISM ANALYSIS, Journal of Medical Genetics, 31(3), 1994, pp. 213-218
DE-NOVO FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY DEFINED BY DNA-PROBE P13E-11 (D4F104S1)
Authors: JARDINE PE KOCH MC LUNT P MAYNARD J BATHKE KD HARPER PS UPADHYAYA M
Citation: Pe. Jardine et al., DE-NOVO FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY DEFINED BY DNA-PROBE P13E-11 (D4F104S1), Archives of Disease in Childhood, 71(3), 1994, pp. 221-227
INHERITED DISORDERS OF CONNECTIVE-TISSUE WITH SCLERODERMA-LIKE CHANGES - SCLEROTROPHIC SYNDROME OF HURIEZ
Authors: RAI A JARDINE PE KAVANAGH G ZAPHIROPOULOS GC
Citation: A. Rai et al., INHERITED DISORDERS OF CONNECTIVE-TISSUE WITH SCLERODERMA-LIKE CHANGES - SCLEROTROPHIC SYNDROME OF HURIEZ, British journal of rheumatology, 32, 1993, pp. 63-63
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