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763 results

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Page 1
Frequency of 22q11 deletions in patients with conotruncal defects.
Goldmuntz E, Clark BJ, Mitchell LE, Jawad AF, Cuneo BF, Reed L, McDonald-McGinn D, Chien P, Feuer J, Zackai EH, Emanuel BS, Driscoll DA. Goldmuntz E, et al. Among authors: reed l. J Am Coll Cardiol. 1998 Aug;32(2):492-8. doi: 10.1016/s0735-1097(98)00259-9. J Am Coll Cardiol. 1998. PMID: 9708481 Free article.
Nasal dimple as part of the 22q11.2 deletion syndrome.
Gripp KW, McDonald-McGinn DM, Driscoll DA, Reed LA, Emanuel BS, Zackai EH. Gripp KW, et al. Among authors: reed la. Am J Med Genet. 1997 Mar 31;69(3):290-2. Am J Med Genet. 1997. PMID: 9096759
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
Stamberger H, Hammer TB, Gardella E, Vlaskamp DRM, Bertelsen B, Mandelstam S, de Lange I, Zhang J, Myers CT, Fenger C, Afawi Z, Almanza Fuerte EP, Andrade DM, Balcik Y, Ben Zeev B, Bennett MF, Berkovic SF, Isidor B, Bouman A, Brilstra E, Busk ØL, Cairns A, Caumes R, Chatron N, Dale RC, de Geus C, Edery P, Gill D, Granild-Jensen JB, Gunderson L, Gunning B, Heimer G, Helle JR, Hildebrand MS, Hollingsworth G, Kharytonov V, Klee EW, Koeleman BPC, Koolen DA, Korff C, Küry S, Lesca G, Lev D, Leventer RJ, Mackay MT, Macke EL, McEntagart M, Mohammad SS, Monin P, Montomoli M, Morava E, Moutton S, Muir AM, Parrini E, Procopis P, Ranza E, Reed L, Reif PS, Rosenow F, Rossi M, Sadleir LG, Sadoway T, Schelhaas HJ, Schneider AL, Shah K, Shalev R, Sisodiya SM, Smol T, Stumpel CTRM, Stuurman K, Symonds JD, Mau-Them FT, Verbeek N, Verhoeven JS, Wallace G, Yosovich K, Zarate YA, Zerem A, Zuberi SM, Guerrini R, Mefford HC, Patel C, Zhang YH, Møller RS, Scheffer IE. Stamberger H, et al. Among authors: reed l. Genet Med. 2021 Feb;23(2):363-373. doi: 10.1038/s41436-020-00988-9. Epub 2020 Nov 4. Genet Med. 2021. PMID: 33144681 Free article.
Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17.
Hong M, Zhukareva V, Vogelsberg-Ragaglia V, Wszolek Z, Reed L, Miller BI, Geschwind DH, Bird TD, McKeel D, Goate A, Morris JC, Wilhelmsen KC, Schellenberg GD, Trojanowski JQ, Lee VM. Hong M, et al. Among authors: reed l. Science. 1998 Dec 4;282(5395):1914-7. doi: 10.1126/science.282.5395.1914. Science. 1998. PMID: 9836646
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.
Cordeddu V, Macke EL, Radio FC, Lo Cicero S, Pantaleoni F, Tatti M, Bellacchio E, Ciolfi A, Agolini E, Bruselles A, Brunetti-Pierri N, Suri M, Josephs KS, McEntagart M, Lanpher B, Nickels KC, Haworth A, Reed L, Cappuccio G, Mammi I, Tarnowski JM, Novelli A; Deciphering Developmental Disorders Study; Melis D, Callewaert B, Dallapiccola B, Klee E, Tartaglia M. Cordeddu V, et al. Among authors: reed l. Clin Genet. 2020 Aug;98(2):172-178. doi: 10.1111/cge.13775. Epub 2020 Jun 3. Clin Genet. 2020. PMID: 32415735
Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17.
Clark LN, Poorkaj P, Wszolek Z, Geschwind DH, Nasreddine ZS, Miller B, Li D, Payami H, Awert F, Markopoulou K, Andreadis A, D'Souza I, Lee VM, Reed L, Trojanowski JQ, Zhukareva V, Bird T, Schellenberg G, Wilhelmsen KC. Clark LN, et al. Among authors: reed l. Proc Natl Acad Sci U S A. 1998 Oct 27;95(22):13103-7. doi: 10.1073/pnas.95.22.13103. Proc Natl Acad Sci U S A. 1998. PMID: 9789048 Free PMC article.
Phenotypic correlations in FTDP-17.
Reed LA, Wszolek ZK, Hutton M. Reed LA, et al. Neurobiol Aging. 2001 Jan-Feb;22(1):89-107. doi: 10.1016/s0197-4580(00)00202-5. Neurobiol Aging. 2001. PMID: 11164280 Review.
Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17.
Hutton M, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden H, Pickering-Brown S, Chakraverty S, Isaacs A, Grover A, Hackett J, Adamson J, Lincoln S, Dickson D, Davies P, Petersen RC, Stevens M, de Graaff E, Wauters E, van Baren J, Hillebrand M, Joosse M, Kwon JM, Nowotny P, Che LK, Norton J, Morris JC, Reed LA, Trojanowski J, Basun H, Lannfelt L, Neystat M, Fahn S, Dark F, Tannenberg T, Dodd PR, Hayward N, Kwok JB, Schofield PR, Andreadis A, Snowden J, Craufurd D, Neary D, Owen F, Oostra BA, Hardy J, Goate A, van Swieten J, Mann D, Lynch T, Heutink P. Hutton M, et al. Among authors: reed la. Nature. 1998 Jun 18;393(6686):702-5. doi: 10.1038/31508. Nature. 1998. PMID: 9641683
763 results