Lampe AK - Search Results

1

Regulatory de novo mutations underlying intellectual disability.

De Vas MG, Boulet F, Joshi SS, Garstang MG, Khan TN, Atla G, Parry D, Moore D, Cebola I, Zhang S, Cui W, Lampe AK, Lam WW; Genomics England Research Consortium; Ferrer J, Pradeepa MM, Atanur SS. De Vas MG, et al. Among authors: lampe ak. Life Sci Alliance. 2023 Feb 28;6(5):e202201843. doi: 10.26508/lsa.202201843. Print 2023 May. Life Sci Alliance. 2023. PMID: 36854624 Free PMC article.

2

Laugier-Hunziker syndrome: an important differential diagnosis for Peutz-Jeghers syndrome.

Lampe AK, Hampton PJ, Woodford-Richens K, Tomlinson I, Lawrence CM, Douglas FS. Lampe AK, et al. J Med Genet. 2003 Jun;40(6):e77. doi: 10.1136/jmg.40.6.e77. J Med Genet. 2003. PMID: 12807976 Free PMC article. No abstract available.

3

Collagen VI related muscle disorders.

Lampe AK, Bushby KM. Lampe AK, et al. J Med Genet. 2005 Sep;42(9):673-85. doi: 10.1136/jmg.2002.002311. J Med Genet. 2005. PMID: 16141002 Free PMC article. Review.

4

Psychopathology in mothers of children with pathogenic Copy Number Variants.

Niarchou M, Cunningham AC, Chawner SJRA, Moulding H, Sopp M; IMAGINE-ID; Hall J, Owen MJ, van den Bree MBM. Niarchou M, et al. J Med Genet. 2023 Jul;60(7):706-711. doi: 10.1136/jmg-2022-108752. Epub 2022 Nov 29. J Med Genet. 2023. PMID: 36446581 Free PMC article.

5

Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy.

Mercuri E, Lampe A, Allsop J, Knight R, Pane M, Kinali M, Bonnemann C, Flanigan K, Lapini I, Bushby K, Pepe G, Muntoni F. Mercuri E, et al. Neuromuscul Disord. 2005 Apr;15(4):303-10. doi: 10.1016/j.nmd.2005.01.004. Neuromuscul Disord. 2005. PMID: 15792870

6

Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry.

Brockington M, Brown SC, Lampe A, Yuva Y, Feng L, Jimenez-Mallebrera C, Sewry CA, Flanigan KM, Bushby K, Muntoni F. Brockington M, et al. Prenat Diagn. 2004 Jun;24(6):440-4. doi: 10.1002/pd.902. Prenat Diagn. 2004. PMID: 15229843

7

Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.

Lampe AK, Zou Y, Sudano D, O'Brien KK, Hicks D, Laval SH, Charlton R, Jimenez-Mallebrera C, Zhang RZ, Finkel RS, Tennekoon G, Schreiber G, van der Knaap MS, Marks H, Straub V, Flanigan KM, Chu ML, Muntoni F, Bushby KM, Bönnemann CG. Lampe AK, et al. Hum Mutat. 2008 Jun;29(6):809-22. doi: 10.1002/humu.20704. Hum Mutat. 2008. PMID: 18366090

8

Familial neurofibromatosis microdeletion syndrome complicated by rhabdomyosarcoma.

Lampe AK, Seymour G, Thompson PW, Toutain A, Lynch SA. Lampe AK, et al. Arch Dis Child. 2002 Nov;87(5):444-5. doi: 10.1136/adc.87.5.444. Arch Dis Child. 2002. PMID: 12390929 Free PMC article.

9

A refined diagnostic algorithm for Bethlem myopathy.

Hicks D, Lampe AK, Barresi R, Charlton R, Fiorillo C, Bonnemann CG, Hudson J, Sutton R, Lochmüller H, Straub V, Bushby K. Hicks D, et al. Among authors: lampe ak. Neurology. 2008 Apr 1;70(14):1192-9. doi: 10.1212/01.wnl.0000307749.66438.6d. Neurology. 2008. PMID: 18378883 Clinical Trial.

10

A novel non-synonymous polymorphism (p.Arg240His) in C4b-binding protein is associated with atypical hemolytic uremic syndrome and leads to impaired alternative pathway cofactor activity.

Blom AM, Bergström F, Edey M, Diaz-Torres M, Kavanagh D, Lampe A, Goodship JA, Strain L, Moghal N, McHugh M, Inward C, Tomson C, Frémeaux-Bacchi V, Villoutreix BO, Goodship TH. Blom AM, et al. J Immunol. 2008 May 1;180(9):6385-91. doi: 10.4049/jimmunol.180.9.6385. J Immunol. 2008. PMID: 18424762

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