Mutation type and position varies between mosaic and inherited NF2 and correlates with disease severity

Autor: Evans, D. G., Bowers, N., Huson, S. M., Wallace, A.

Publikováno v: Evans, D G, Bowers, N, Huson, S M & Wallace, A 2013, ' Mutation type and position varies between mosaic and inherited NF2 and correlates with disease severity ', Clinical Genetics, vol. 83, no. 6, pp. 594-595 . https://doi.org/10.1111/cge.12007

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3818::839b9d54930e1f7b857d1bb85d5ad543
http://www.scopus.com/inward/record.url?scp=84876788840&partnerID=8YFLogxK

Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome.

Autor: Garzon JP; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Patete A; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Aschbacher-Smith L; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Qu'd D; Alabama College of Osteopathic Medicine, Dothan, Alabama, USA., Kelly-Mancuso G; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Raski CR; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Weisman AG; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Hankins M; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Sawin M; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Kim K; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Drackley A; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Zeid J; Division of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Ophthalmology, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Weaver KN; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Hopkin RJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Saal HM; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Charrow J; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Schorry E; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Listernick R; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Simpson BN; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Tennessee Health Science Center, Memphis, Tennessee, USA.; Le Bonheur Children's Hospital, Memphis, Tennessee, USA.; St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Prada CE; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA.

Publikováno v: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2024 Dec; Vol. 196 (4), pp. e32095. Date of Electronic Publication: 2024 Jul 18.

Brainstem dominant form of X‐linked adrenoleukodystrophy with a novel ABCD1 missense variant: A case report and literature review.

Autor: Kang, Yulai¹ (AUTHOR), Guo, Lu¹ (AUTHOR), Min, Zhuo¹ (AUTHOR), Zhang, Lei¹ (AUTHOR), Zhang, Lili¹ (AUTHOR), Tang, Chunhua¹ (AUTHOR) tangch84@126.com

Publikováno v: Molecular Genetics & Genomic Medicine. Jul2024, Vol. 12 Issue 7, p1-7. 7p.

Delineating Visual Habituation Profiles in Preschoolers with Neurofibromatosis Type 1 and Autism Spectrum Disorder: A Cross-Syndrome Study.

Autor: Hocking, Darren R.¹ d.hocking@latrobe.edu.au, Sun, Xiaoyun¹, Haebich, Kristina^2,3, Darke, Hayley², North, Kathryn N.^2,3, Vivanti, Giacomo⁴, Payne, Jonathan M.^2,3

Publikováno v: Journal of Autism & Developmental Disorders. May2024, Vol. 54 Issue 5, p1998-2011. 14p.

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