Lunt P - Search Results

1

Recommendations for the clinical interpretation of genetic variants and presentation of results to patients with inherited bleeding disorders. A UK Haemophilia Centre Doctors' Organisation Good Practice Paper.

Gomez K, Laffan M, Keeney S, Sutherland M, Curry N, Lunt P. Gomez K, et al. Among authors: lunt p. Haemophilia. 2019 Jan;25(1):116-126. doi: 10.1111/hae.13637. Haemophilia. 2019. PMID: 30664826

2

44th ENMC International Workshop: Facioscapulohumeral Muscular Dystrophy: Molecular Studies 19-21 July 1996, Naarden, The Netherlands.

Lunt PW. Lunt PW. Neuromuscul Disord. 1998 Apr;8(2):126-30. doi: 10.1016/s0960-8966(98)00012-1. Neuromuscul Disord. 1998. PMID: 9608567 No abstract available.

3

Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.

Antoniadi T, Buxton C, Dennis G, Forrester N, Smith D, Lunt P, Burton-Jones S. Antoniadi T, et al. Among authors: lunt p. BMC Med Genet. 2015 Sep 21;16:84. doi: 10.1186/s12881-015-0224-8. BMC Med Genet. 2015. PMID: 26392352 Free PMC article.

4

A report of a new case of an interstitial deletion at 3p25.3 and expansion of the clinical phenotype.

Bownass L, Lunt P, Williams C, Woodbridge T, Ellis M, Scurr I. Bownass L, et al. Among authors: lunt p. Clin Dysmorphol. 2014 Apr;23(2):63-66. doi: 10.1097/MCD.0000000000000030. Clin Dysmorphol. 2014. PMID: 24561646 No abstract available.

5

Childhood predictive genetic testing for Li-Fraumeni syndrome.

Evans DG, Lunt P, Clancy T, Eeles R. Evans DG, et al. Among authors: lunt p. Fam Cancer. 2010 Mar;9(1):65-9. doi: 10.1007/s10689-009-9245-9. Epub 2009 Apr 30. Fam Cancer. 2010. PMID: 19404774

6

Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy.

Lunt PW, Jardine PE, Koch M, Maynard J, Osborn M, Williams M, Harper PS, Upadhyaya M. Lunt PW, et al. Muscle Nerve Suppl. 1995;(2):S103-9. Muscle Nerve Suppl. 1995. PMID: 23573595

7

Report of the sixth International Workshop on Facioscapulohumeral Muscular Dystrophy: San Francisco, 11 November 1992; and current guidelines for clinical application of DNA rearrangements at locus D4S810. Muscular Dystrophy Group of America.

Lunt PW. Lunt PW. Neuromuscul Disord. 1994 Jan;4(1):83-6. doi: 10.1016/0960-8966(94)90052-3. Neuromuscul Disord. 1994. PMID: 8173356 No abstract available.

8

A scapular onset muscular dystrophy without facial involvement: possible allelism with facioscapulohumeral muscular dystrophy.

Jardine PE, Upadhyaya M, Maynard J, Harper P, Lunt PW. Jardine PE, et al. Among authors: lunt pw. Neuromuscul Disord. 1994 Sep-Nov;4(5-6):477-82. doi: 10.1016/0960-8966(94)90087-6. Neuromuscul Disord. 1994. PMID: 7881292

9

Diagnostic criteria for facioscapulohumeral muscular dystrophy.

Padberg GW, Lunt PW, Koch M, Fardeau M. Padberg GW, et al. Among authors: lunt pw. Neuromuscul Disord. 1991;1(4):231-4. doi: 10.1016/0960-8966(91)90094-9. Neuromuscul Disord. 1991. PMID: 1822799 No abstract available.

10

Genetic counselling in facioscapulohumeral muscular dystrophy.

Lunt PW, Harper PS. Lunt PW, et al. J Med Genet. 1991 Oct;28(10):655-64. doi: 10.1136/jmg.28.10.655. J Med Genet. 1991. PMID: 1941962 Free PMC article.

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