Lutz R - Search Results

1

Newborn Screening for X-Linked Adrenoleukodystrophy in Nebraska: Initial Experiences and Challenges.

Baker CV, Cady Keller A, Lutz R, Eveans K, Baumert K, DiPerna JC, Rizzo WB. Baker CV, et al. Among authors: lutz r. Int J Neonatal Screen. 2022 Apr 26;8(2):29. doi: 10.3390/ijns8020029. Int J Neonatal Screen. 2022. PMID: 35645283 Free PMC article.

2

Novel PLP1 Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical Phenotypes.

Margraf RL, Durtschi J, Krock B, Newcomb TM, Bonkowsky JL, Voelkerding KV, Bayrak-Toydemir P, Lutz RE, Swoboda KJ. Margraf RL, et al. Child Neurol Open. 2018 Jul 23;5:2329048X18789282. doi: 10.1177/2329048X18789282. eCollection 2018. Child Neurol Open. 2018. PMID: 30046645 Free PMC article.

3

Osteogenesis imperfecta caused by PPIB mutation with severe phenotype and congenital hearing loss.

Rush ET, Caldwell KS, Kreikemeier RM, Lutz RE, Esposito PW. Rush ET, et al. J Pediatr Genet. 2014 Mar;3(1):29-34. doi: 10.3233/PGE-14080. J Pediatr Genet. 2014. PMID: 27625864 Free PMC article.

4

Disruption of CTNND2, encoding delta-catenin, causes a penetrant attention deficit disorder and myopia.

Adegbola A, Lutz R, Nikkola E, Strom SP, Picker J, Wynshaw-Boris A. Adegbola A, et al. Among authors: lutz r. HGG Adv. 2020 Oct 22;1(1):100007. doi: 10.1016/j.xhgg.2020.100007. Epub 2020 Aug 25. HGG Adv. 2020. PMID: 33718894 Free PMC article.

5

An atypical case of cytochrome c oxidase deficiency with biochemical heterogeneity in fibroblasts.

Lutz R, Garnica A, Shires A, Freneaux E, De Vivo D, Neuhoff P, Rhead WJ. Lutz R, et al. Neurology. 1991 Dec;41(12):1957-60. doi: 10.1212/wnl.41.12.1957. Neurology. 1991. PMID: 1660571

6

Trinucleotide repeat disorders.

Lutz RE. Lutz RE. Semin Pediatr Neurol. 2007 Mar;14(1):26-33. doi: 10.1016/j.spen.2006.11.006. Semin Pediatr Neurol. 2007. PMID: 17331881 Review.

7

PIGQ glycosylphosphatidylinositol-anchored protein deficiency: Characterizing the phenotype.

Starr LJ, Spranger JW, Rao VK, Lutz R, Yetman AT. Starr LJ, et al. Among authors: lutz r. Am J Med Genet A. 2019 Jul;179(7):1270-1275. doi: 10.1002/ajmg.a.61185. Epub 2019 May 30. Am J Med Genet A. 2019. PMID: 31148362

8

Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.

Bali DS, Goldstein JL, Fredrickson K, Rehder C, Boney A, Austin S, Weinstein DA, Lutz R, Boneh A, Kishnani PS. Bali DS, et al. Among authors: lutz r. Mol Genet Metab. 2014 Mar;111(3):309-313. doi: 10.1016/j.ymgme.2013.12.008. Epub 2013 Dec 19. Mol Genet Metab. 2014. PMID: 24389071 Free PMC article.

9

Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation types.

Wang J, Yu H, Zhang VW, Tian X, Feng Y, Wang G, Gorman E, Wang H, Lutz RE, Schmitt ES, Peacock S, Wong LJ. Wang J, et al. Genet Med. 2016 May;18(5):513-21. doi: 10.1038/gim.2015.121. Epub 2015 Sep 24. Genet Med. 2016. PMID: 26402642 Free article.

10

FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.

Mitter D, Pringsheim M, Kaulisch M, Plümacher KS, Schröder S, Warthemann R, Abou Jamra R, Baethmann M, Bast T, Büttel HM, Cohen JS, Conover E, Courage C, Eger A, Fatemi A, Grebe TA, Hauser NS, Heinritz W, Helbig KL, Heruth M, Huhle D, Höft K, Karch S, Kluger G, Korenke GC, Lemke JR, Lutz RE, Patzer S, Prehl I, Hoertnagel K, Ramsey K, Rating T, Rieß A, Rohena L, Schimmel M, Westman R, Zech FM, Zoll B, Malzahn D, Zirn B, Brockmann K. Mitter D, et al. Among authors: lutz re. Genet Med. 2018 Jan;20(1):98-108. doi: 10.1038/gim.2017.75. Epub 2017 Jun 29. Genet Med. 2018. PMID: 28661489 Free article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

519 results

Search Page