These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
43. A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency. Nakagawa T; Taniguchi-Ikeda M; Murakami Y; Nakamura S; Motooka D; Emoto T; Satake W; Nishiyama M; Toyoshima D; Morisada N; Takada S; Tairaku S; Okamoto N; Morioka I; Kurahashi H; Toda T; Kinoshita T; Iijima K Am J Med Genet A; 2016 Jan; 170A(1):183-8. PubMed ID: 26419326 [TBL] [Abstract][Full Text] [Related]
44. PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature. Peron A; Iascone M; Salvatici E; Cavirani B; Marchetti D; Corno S; Vignoli A Am J Med Genet A; 2020 Jun; 182(6):1477-1482. PubMed ID: 32198969 [TBL] [Abstract][Full Text] [Related]
45. Trafficking and Membrane Organization of GPI-Anchored Proteins in Health and Diseases. Paladino S; Lebreton S; Zurzolo C Curr Top Membr; 2015; 75():269-303. PubMed ID: 26015286 [TBL] [Abstract][Full Text] [Related]
46. Hyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acid. Messina M; Manea E; Cullup T; Tuschl K; Batzios S JIMD Rep; 2023 Jan; 64(1):42-52. PubMed ID: 36636587 [TBL] [Abstract][Full Text] [Related]
47. Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors. Lam C; Golas GA; Davids M; Huizing M; Kane MS; Krasnewich DM; Malicdan MCV; Adams DR; Markello TC; Zein WM; Gropman AL; Lodish MB; Stratakis CA; Maric I; Rosenzweig SD; Baker EH; Ferreira CR; Danylchuk NR; Kahler S; Garnica AD; Bradley Schaefer G; Boerkoel CF; Gahl WA; Wolfe LA Mol Genet Metab; 2015; 115(2-3):128-140. PubMed ID: 25943031 [TBL] [Abstract][Full Text] [Related]
53. Clinical and genetic analysis of two Chinese infants with Mabry syndrome. Xue J; Li H; Zhang Y; Yang Z Brain Dev; 2016 Oct; 38(9):807-18. PubMed ID: 27177984 [TBL] [Abstract][Full Text] [Related]
54. PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics. Bayat A; Knaus A; Juul AW; Dukic D; Gardella E; Charzewska A; Clement E; Hjalgrim H; Hoffman-Zacharska D; Horn D; Horton R; Hurst JA; Josifova D; Larsen LHG; Lascelles K; Obersztyn E; Pagnamenta A; Pal DK; Pendziwiat M; Ryten M; Taylor J; Vogt J; Weber Y; Krawitz PM; Helbig I; Kini U; Møller RS; Genet Med; 2019 Oct; 21(10):2216-2223. PubMed ID: 30976099 [TBL] [Abstract][Full Text] [Related]
55. Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study. Loong L; Tardivo A; Knaus A; Hashim M; Pagnamenta AT; Alt K; Böhrer-Rabel H; Caro-Llopis A; Cole T; Distelmaier F; Edery P; Ferreira CR; Jezela-Stanek A; Kerr B; Kluger G; Krawitz PM; Kuhn M; Lemke JR; Lesca G; Lynch SA; Martinez F; Maxton C; Mierzewska H; Monfort S; Nicolai J; Orellana C; Pal DK; Płoski R; Quarrell OW; Rosello M; Rydzanicz M; Sabir A; Śmigiel R; Stegmann APA; Stewart H; Stumpel C; Szczepanik E; Tzschach A; Wolfe L; Taylor JC; Murakami Y; Kinoshita T; Bayat A; Kini U Genet Med; 2023 Jan; 25(1):37-48. PubMed ID: 36322149 [TBL] [Abstract][Full Text] [Related]
56. Drosophila models of phosphatidylinositol glycan biosynthesis class A congenital disorder of glycosylation (PIGA-CDG) mirror patient phenotypes. Thorpe HJ; Owings KG; Aziz MC; Haller M; Coelho E; Chow CY G3 (Bethesda); 2024 Mar; 14(3):. PubMed ID: 38124489 [TBL] [Abstract][Full Text] [Related]
57. PIGA mutations cause early-onset epileptic encephalopathies and distinctive features. Kato M; Saitsu H; Murakami Y; Kikuchi K; Watanabe S; Iai M; Miya K; Matsuura R; Takayama R; Ohba C; Nakashima M; Tsurusaki Y; Miyake N; Hamano S; Osaka H; Hayasaka K; Kinoshita T; Matsumoto N Neurology; 2014 May; 82(18):1587-96. PubMed ID: 24706016 [TBL] [Abstract][Full Text] [Related]
58. Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations. Kohashi K; Ishiyama A; Yuasa S; Tanaka T; Miya K; Adachi Y; Sato N; Saitsu H; Ohba C; Matsumoto N; Murakami Y; Kinoshita T; Sugai K; Sasaki M Brain Dev; 2018 Jan; 40(1):53-57. PubMed ID: 28728837 [TBL] [Abstract][Full Text] [Related]
59. Diaphragmatic Hernia as a Prenatal Feature of Glycosylphosphatidylinositol Biosynthesis Defects and the Overlap With Fryns Syndrome - Literature Review. Kosinski P; Greczan M; Jezela-Stanek A Front Genet; 2021; 12():674722. PubMed ID: 34163527 [TBL] [Abstract][Full Text] [Related]
60. A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects. Palagano E; Gordon CT; Uva P; Strina D; Dimartino C; Villa A; Amiel J; Guion-Almeida ML; Vendramini-Pittoli S; Kokitsu-Nakata NM; Zechi-Ceide RM; Sobacchi C Bone; 2021 Dec; 153():116152. PubMed ID: 34400385 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]