Philip Jardine's publications
2012 Absoud M, Lim MJ, Chong WK, De Goede CG, Foster K, Gunny R, Hemingway C, Jardine PE, Kneen R, Likeman M, Nischal KK, Pike MG, Sibtain NA, Whitehouse WP, Cummins C, Wassmer E. Paediatric acquired demyelinating syndromes: incidence, clinical and magnetic resonance imaging features. The UK and Ireland Childhood CNS Inflammatory Demyelination Working Group. Multiple Sclerosis. Apr 19. [Epub ahead of print] 2010 Fong CY, Williams C, Pople IK, Jardine PE. Optic disc drusen masquerading as papilloedema. Arch Dis Child. Aug;95(8):629. Epub 2010 Jun 3.
2010: Fong CY, Mumford AD, Likeman MJ, Jardine PE. Cerebral palsy in siblings caused by compound heterozygous mutations in the gene encoding protein C. Dev Med Child Neurol. 2010 Feb 19. [Epub ahead of print] PubMed PMID: 20187890. 2009: Mallick AA, Sharples PM, Calvert SE, Jones RW, Leary M, Lux AL, O'Callaghan FJ, Osborne JP, Patel JS, Prendiville AT, Renowden S, Jardine PE. Cerebral venous sinus thrombosis: a case series including thrombolysis. Arch Dis Child. 2009 Oct;94(10):790-4. Epub 2009 Jun 24. PubMed PMID: 19556220. 2009:
Philip Jardine's publications
2010: Fong CY, Mumford AD, Likeman MJ, Jardine PE. Cerebral palsy in siblings caused by compound heterozygous mutations in the gene encoding protein C. Dev Med Child Neurol. 2010 Feb 19. [Epub ahead of print] PubMed PMID: 20187890.
2009: Mallick AA, Sharples PM, Calvert SE, Jones RW, Leary M, Lux AL, O'Callaghan FJ, Osborne JP, Patel JS, Prendiville AT, Renowden S, Jardine PE. Cerebral venous sinus thrombosis: a case series including thrombolysis. Arch Dis Child. 2009 Oct;94(10):790-4. Epub 2009 Jun 24. PubMed PMID: 19556220.
2009: Majumdar A, López-Casas J, Poo P, Colomer J, Galvan M, Lingappa L, Short C, Jardine PE, Fernández-Alvarez E. Syndrome of fixed dystonia in adolescents—short term outcome in 4 cases. Eur J Paediatr Neurol. 2009 Sep;13(5):466-72. Epub 2008 Nov 7. PubMed PMID: 18996036.
2008: de Goede CG, Jardine PE, Eunson P, Renowden S, Sharples P, Newton RW. Progressive late-onset myelopathy and arachnoiditis following neonatal meningitis. Childs Nerv Syst. 2008 Jun;24(6):675; author reply 677. Epub 2008 Mar 26. PubMed PMID: 18365211.
2008: Garrood P, Eagle M, Jardine PE, Bushby K, Straub V. Myoglobinuria in boys with Duchenne muscular dystrophy on corticosteroid therapy. Neuromuscul Disord. 2008 Jan;18(1):71-3. Epub 2007 Aug 23. PubMed PMID: 17719224.
2006: de Goede CG, Jardine PE, Eunson P, Renowden S, Sharples P, Newton RW. Severe progressive late onset myelopathy and arachnoiditis following neonatal meningitis. Eur J Paediatr Neurol. 2006 Jan;10(1):31-6. Epub 2006 Mar 15. PubMed PMID: 16540357.
2005: Evans JC, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gécz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R, Whatley SD, Clarke AJ. Early onset seizures and Rett-like features associated with mutations in CDKL5. Eur J Hum Genet. 2005 Oct;13(10):1113-20. PubMed PMID: 16015284.
2002: Ronghe MD, Barton J, Jardine PE, Crowne EC, Webster MH, Armitage M, Allen JT, Steward CG. The importance of testing for adrenoleucodystrophy in males with idiopathic Addison's disease. Arch Dis Child. 2002 Mar;86(3):185-9. PubMed PMID: 11861237; PubMed Central PMCID: PMC1719115.
2001: Kors EE, Terwindt GM, Vermeulen FL, Fitzsimons RB, Jardine PE, Heywood P, Love S, van den Maagdenberg AM, Haan J, Frants RR, Ferrari MD. Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine. Ann Neurol. 2001 Jun;49(6):753-60. PubMed PMID: 11409427.
1997: Kavanagh GM, Jardine PE, Peachey RD, Murray JC, De Berker D. The scleroatrophic syndrome of Huriez. Br J Dermatol. 1997 Jul;137(1):114-8. PubMed PMID: 9274637.
1996: Jardine PE, Clarke MA, Super M. Familial bilateral periventricular nodular heterotopia mimics tuberous sclerosis. Arch Dis Child. 1996 Mar;74(3):244-6. Review. PubMed PMID: 8787433; PubMed Central PMCID: PMC1511435.
1995: Lunt PW, Jardine PE, Koch MC, Maynard J, Osborn M, Williams M, Harper PS, Upadhyaya M. Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD). Hum Mol Genet. 1995 May;4(5):951-8. Erratum in: Hum Mol Genet 1995 Jul;4(7):1243-4. PubMed PMID: 7633457.
1995: Lunt PW, Jardine PE, Koch M, Maynard J, Osborn M, Williams M, Harper PS, Upadhyaya M. Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy. Muscle Nerve. 1995;2:S103-9. PubMed PMID: 7739619.
1994: Jardine PE, Koch MC, Lunt PW, Maynard J, Bathke KD, Harper PS, Upadhyaya M. De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1). Arch Dis Child. 1994 Sep;71(3):221-7. PubMed PMID: 7979495; PubMed Central PMCID: PMC1029975.
1994: Jardine PE, Upadhyaya M, Maynard J, Harper P, Lunt PW. A scapular onset muscular dystrophy without facial involvement: possible allelism with facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 1994 Sep-Nov;4(5-6):477-82. PubMed PMID: 7881292.
1994: Jardine PE, Cotter PD, Johnson SA, Fitzsimons EJ, Tyfield L, Lunt PW, Bishop DF. Pyridoxine-refractory congenital sideroblastic anaemia with evidence for autosomal inheritance: exclusion of linkage to ALAS2 at Xp11.21 by polymorphism analysis. J Med Genet. 1994 Mar;31(3):213-8. Review. PubMed PMID: 7912287; PubMed Central PMCID: PMC1049745.
1993: Jardine PE, Burvill-Holmes LC, Schutt WH, Lunt PW. Partial 6q monosomy/partial 12q trisomy in a child with features of Kabuki make-up syndrome. Clin Dysmorphol. 1993 Jul;2(3):269-73. PubMed PMID: 8287190.
Philip Jardine's publications
2010: Fong CY, Mumford AD, Likeman MJ, Jardine PE. Cerebral palsy in siblings caused by compound heterozygous mutations in the gene encoding protein C. Dev Med Child Neurol. 2010 Feb 19. [Epub ahead of print] PubMed PMID: 20187890.
2009: Mallick AA, Sharples PM, Calvert SE, Jones RW, Leary M, Lux AL, O'Callaghan FJ, Osborne JP, Patel JS, Prendiville AT, Renowden S, Jardine PE. Cerebral venous sinus thrombosis: a case series including thrombolysis. Arch Dis Child. 2009 Oct;94(10):790-4. Epub 2009 Jun 24. PubMed PMID: 19556220.
2009: Majumdar A, López-Casas J, Poo P, Colomer J, Galvan M, Lingappa L, Short C, Jardine PE, Fernández-Alvarez E. Syndrome of fixed dystonia in adolescents—short term outcome in 4 cases. Eur J Paediatr Neurol. 2009 Sep;13(5):466-72. Epub 2008 Nov 7. PubMed PMID: 18996036.
2008: de Goede CG, Jardine PE, Eunson P, Renowden S, Sharples P, Newton RW. Progressive late-onset myelopathy and arachnoiditis following neonatal meningitis. Childs Nerv Syst. 2008 Jun;24(6):675; author reply 677. Epub 2008 Mar 26. PubMed PMID: 18365211.
2008: Garrood P, Eagle M, Jardine PE, Bushby K, Straub V. Myoglobinuria in boys with Duchenne muscular dystrophy on corticosteroid therapy. Neuromuscul Disord. 2008 Jan;18(1):71-3. Epub 2007 Aug 23. PubMed PMID: 17719224.
2006: de Goede CG, Jardine PE, Eunson P, Renowden S, Sharples P, Newton RW. Severe progressive late onset myelopathy and arachnoiditis following neonatal meningitis. Eur J Paediatr Neurol. 2006 Jan;10(1):31-6. Epub 2006 Mar 15. PubMed PMID: 16540357.
2005: Evans JC, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gécz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R, Whatley SD, Clarke AJ. Early onset seizures and Rett-like features associated with mutations in CDKL5. Eur J Hum Genet. 2005 Oct;13(10):1113-20. PubMed PMID: 16015284.
2002: Ronghe MD, Barton J, Jardine PE, Crowne EC, Webster MH, Armitage M, Allen JT, Steward CG. The importance of testing for adrenoleucodystrophy in males with idiopathic Addison's disease. Arch Dis Child. 2002 Mar;86(3):185-9. PubMed PMID: 11861237; PubMed Central PMCID: PMC1719115.
2001:
Kors EE, Terwindt GM, Vermeulen FL, Fitzsimons RB, Jardine PE, Heywood P, Love S, van den Maagdenberg AM, Haan J, Frants RR, Ferrari MD. Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine. Ann Neurol. 2001 Jun;49(6):753-60. PubMed PMID: 11409427.
1997: Kavanagh GM, Jardine PE, Peachey RD, Murray JC, De Berker D. The scleroatrophic syndrome of Huriez. Br J Dermatol. 1997 Jul;137(1):114-8. PubMed PMID: 9274637.
1996: Jardine PE, Clarke MA, Super M. Familial bilateral periventricular nodular heterotopia mimics tuberous sclerosis. Arch Dis Child. 1996 Mar;74(3):244-6. Review. PubMed PMID: 8787433; PubMed Central PMCID: PMC1511435.
1995: Lunt PW, Jardine PE, Koch MC, Maynard J, Osborn M, Williams M, Harper PS, Upadhyaya M. Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD). Hum Mol Genet. 1995 May;4(5):951-8. Erratum in: Hum Mol Genet 1995 Jul;4(7):1243-4. PubMed PMID: 7633457.
1995: Lunt PW, Jardine PE, Koch M, Maynard J, Osborn M, Williams M, Harper PS, Upadhyaya M. Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy. Muscle Nerve. 1995;2:S103-9. PubMed PMID: 7739619.
1994: Jardine PE, Koch MC, Lunt PW, Maynard J, Bathke KD, Harper PS, Upadhyaya M. De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1). Arch Dis Child. 1994 Sep;71(3):221-7. PubMed PMID: 7979495; PubMed Central PMCID: PMC1029975.
1994: Jardine PE, Upadhyaya M, Maynard J, Harper P, Lunt PW. A scapular onset muscular dystrophy without facial involvement: possible allelism with facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 1994 Sep-Nov;4(5-6):477-82. PubMed PMID: 7881292.
1994: Jardine PE, Cotter PD, Johnson SA, Fitzsimons EJ, Tyfield L, Lunt PW, Bishop DF. Pyridoxine-refractory congenital sideroblastic anaemia with evidence for autosomal inheritance: exclusion of linkage to ALAS2 at Xp11.21 by polymorphism analysis. J Med Genet. 1994 Mar;31(3):213-8. Review. PubMed PMID: 7912287; PubMed Central PMCID: PMC1049745.
1993: Jardine PE, Burvill-Holmes LC, Schutt WH, Lunt PW. Partial 6q monosomy/partial 12q trisomy in a child with features of Kabuki make-up syndrome. Clin Dysmorphol. 1993 Jul;2(3):269-73. PubMed PMID: 8287190.
Philip Jardine's publications
2010: Fong CY, Mumford AD, Likeman MJ, Jardine PE. Cerebral palsy in siblings caused by compound heterozygous mutations in the gene encoding protein C. Dev Med Child Neurol. 2010 Feb 19. [Epub ahead of print] PubMed PMID: 20187890.
2009: Mallick AA, Sharples PM, Calvert SE, Jones RW, Leary M, Lux AL, O'Callaghan FJ, Osborne JP, Patel JS, Prendiville AT, Renowden S, Jardine PE. Cerebral venous sinus thrombosis: a case series including thrombolysis. Arch Dis Child. 2009 Oct;94(10):790-4. Epub 2009 Jun 24. PubMed PMID: 19556220.
2009: Majumdar A, López-Casas J, Poo P, Colomer J, Galvan M, Lingappa L, Short C, Jardine PE, Fernández-Alvarez E. Syndrome of fixed dystonia in adolescents—short term outcome in 4 cases. Eur J Paediatr Neurol. 2009 Sep;13(5):466-72. Epub 2008 Nov 7. PubMed PMID: 18996036.
2008: de Goede CG, Jardine PE, Eunson P, Renowden S, Sharples P, Newton RW. Progressive late-onset myelopathy and arachnoiditis following neonatal meningitis. Childs Nerv Syst. 2008 Jun;24(6):675; author reply 677. Epub 2008 Mar 26. PubMed PMID: 18365211.
2008: Garrood P, Eagle M, Jardine PE, Bushby K, Straub V. Myoglobinuria in boys with Duchenne muscular dystrophy on corticosteroid therapy. Neuromuscul Disord. 2008 Jan;18(1):71-3. Epub 2007 Aug 23. PubMed PMID: 17719224.
2006: de Goede CG, Jardine PE, Eunson P, Renowden S, Sharples P, Newton RW. Severe progressive late onset myelopathy and arachnoiditis following neonatal meningitis. Eur J Paediatr Neurol. 2006 Jan;10(1):31-6. Epub 2006 Mar 15. PubMed PMID: 16540357.
2005: Evans JC, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gécz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R, Whatley SD, Clarke AJ. Early onset seizures and Rett-like features associated with mutations in CDKL5. Eur J Hum Genet. 2005 Oct;13(10):1113-20. PubMed PMID: 16015284.
2002: Ronghe MD, Barton J, Jardine PE, Crowne EC, Webster MH, Armitage M, Allen JT, Steward CG. The importance of testing for adrenoleucodystrophy in males with idiopathic Addison's disease. Arch Dis Child. 2002 Mar;86(3):185-9. PubMed PMID: 11861237; PubMed Central PMCID: PMC1719115.
2001: Kors EE, Terwindt GM, Vermeulen FL, Fitzsimons RB, Jardine PE, Heywood P, Love S, van den Maagdenberg AM, Haan J, Frants RR, Ferrari MD. Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine. Ann Neurol. 2001 Jun;49(6):753-60. PubMed PMID: 11409427.
1997: Kavanagh GM, Jardine PE, Peachey RD, Murray JC, De Berker D. The scleroatrophic syndrome of Huriez. Br J Dermatol. 1997 Jul;137(1):114-8. PubMed PMID: 9274637.
1996: Jardine PE, Clarke MA, Super M. Familial bilateral periventricular nodular heterotopia mimics tuberous sclerosis. Arch Dis Child. 1996 Mar;74(3):244-6. Review. PubMed PMID: 8787433; PubMed Central PMCID: PMC1511435.
1995: Lunt PW, Jardine PE, Koch MC, Maynard J, Osborn M, Williams M, Harper PS, Upadhyaya M. Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD). Hum Mol Genet. 1995 May;4(5):951-8. Erratum in: Hum Mol Genet 1995 Jul;4(7):1243-4. PubMed PMID: 7633457.
1995: Lunt PW, Jardine PE, Koch M, Maynard J, Osborn M, Williams M, Harper PS, Upadhyaya M. Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy. Muscle Nerve. 1995;2:S103-9. PubMed PMID: 7739619.
1994: Jardine PE, Koch MC, Lunt PW, Maynard J, Bathke KD, Harper PS, Upadhyaya M. De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1). Arch Dis Child. 1994 Sep;71(3):221-7. PubMed PMID: 7979495; PubMed Central PMCID: PMC1029975.
1994: Jardine PE, Upadhyaya M, Maynard J, Harper P, Lunt PW. A scapular onset muscular dystrophy without facial involvement: possible allelism with facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 1994 Sep-Nov;4(5-6):477-82. PubMed PMID: 7881292.
1994: Jardine PE, Cotter PD, Johnson SA, Fitzsimons EJ, Tyfield L, Lunt PW, Bishop DF. Pyridoxine-refractory congenital sideroblastic anaemia with evidence for autosomal inheritance: exclusion of linkage to ALAS2 at Xp11.21 by polymorphism analysis. J Med Genet. 1994 Mar;31(3):213-8. Review. PubMed PMID: 7912287; PubMed Central PMCID: PMC1049745.
1993: Jardine PE, Burvill-Holmes LC, Schutt WH, Lunt PW. Partial 6q monosomy/partial 12q trisomy in a child with features of Kabuki make-up syndrome. Clin Dysmorphol. 1993 Jul;2(3):269-73. PubMed PMID: 8287190.
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