263 related articles for article (PubMed ID: 26419326)
1. 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]
2. A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family.
Khayat M; Tilghman JM; Chervinsky I; Zalman L; Chakravarti A; Shalev SA
Am J Med Genet A; 2016 Jan; 170A(1):176-82. PubMed ID: 26364997
[TBL] [Abstract][Full Text] [Related]
3. PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy.
Ohba C; Okamoto N; Murakami Y; Suzuki Y; Tsurusaki Y; Nakashima M; Miyake N; Tanaka F; Kinoshita T; Matsumoto N; Saitsu H
Neurogenetics; 2014 May; 15(2):85-92. PubMed ID: 24253414
[TBL] [Abstract][Full Text] [Related]
4. Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease.
Thiffault I; Zuccarelli B; Welsh H; Yuan X; Farrow E; Zellmer L; Miller N; Soden S; Abdelmoity A; Brodsky RA; Saunders C
BMC Med Genet; 2017 Nov; 18(1):124. PubMed ID: 29096607
[TBL] [Abstract][Full Text] [Related]
5. Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.
Fleming L; Lemmon M; Beck N; Johnson M; Mu W; Murdock D; Bodurtha J; Hoover-Fong J; Cohn R; Bosemani T; Barañano K; Hamosh A
Am J Med Genet A; 2016 Jan; 170A(1):77-86. PubMed ID: 26394714
[TBL] [Abstract][Full Text] [Related]
6. Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.
Jezela-Stanek A; Ciara E; Piekutowska-Abramczuk D; Trubicka J; Jurkiewicz E; Rokicki D; Mierzewska H; Spychalska J; Uhrynowska M; Szwarc-Bronikowska M; Buda P; Said AR; Jamroz E; Rydzanicz M; Płoski R; Krajewska-Walasek M; Pronicka E
Eur J Paediatr Neurol; 2016 May; 20(3):462-73. PubMed ID: 26879448
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.
Maydan G; Noyman I; Har-Zahav A; Neriah ZB; Pasmanik-Chor M; Yeheskel A; Albin-Kaplanski A; Maya I; Magal N; Birk E; Simon AJ; Halevy A; Rechavi G; Shohat M; Straussberg R; Basel-Vanagaite L
J Med Genet; 2011 Jun; 48(6):383-9. PubMed ID: 21493957
[TBL] [Abstract][Full Text] [Related]
9. Damaging novel mutations in PIGN cause developmental epileptic-dyskinetic encephalopathy: a case report.
Tian M; Chen J; Li J; Pan H; Lei W; Shu X
BMC Pediatr; 2022 Apr; 22(1):222. PubMed ID: 35468813
[TBL] [Abstract][Full Text] [Related]
10. Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.
Makrythanasis P; Kato M; Zaki MS; Saitsu H; Nakamura K; Santoni FA; Miyatake S; Nakashima M; Issa MY; Guipponi M; Letourneau A; Logan CV; Roberts N; Parry DA; Johnson CA; Matsumoto N; Hamamy H; Sheridan E; Kinoshita T; Antonarakis SE; Murakami Y
Am J Hum Genet; 2016 Apr; 98(4):615-26. PubMed ID: 26996948
[TBL] [Abstract][Full Text] [Related]
11. [Inherited GPI deficiencies:a new disease with intellectual disability and epilepsy].
Murakami Y; Kinoshita T
No To Hattatsu; 2015 Jan; 47(1):5-13. PubMed ID: 25803904
[TBL] [Abstract][Full Text] [Related]
12. [Multiple congenital anomalies-hypotonia-seizures syndrome 1: case report and review of literature].
Xu YF; Li N; Li GQ; Wang XM; Zhou YF; Yin L; Wang J
Zhonghua Er Ke Za Zhi; 2017 Mar; 55(3):215-219. PubMed ID: 28273706
[No Abstract] [Full Text] [Related]
13. Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome.
Chiyonobu T; Inoue N; Morimoto M; Kinoshita T; Murakami Y
J Med Genet; 2014 Mar; 51(3):203-7. PubMed ID: 24367057
[TBL] [Abstract][Full Text] [Related]
14. A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.
Kvarnung M; Nilsson D; Lindstrand A; Korenke GC; Chiang SC; Blennow E; Bergmann M; Stödberg T; Mäkitie O; Anderlid BM; Bryceson YT; Nordenskjöld M; Nordgren A
J Med Genet; 2013 Aug; 50(8):521-8. PubMed ID: 23636107
[TBL] [Abstract][Full Text] [Related]
15. Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.
Nguyen TTM; Murakami Y; Wigby KM; Baratang NV; Rousseau J; St-Denis A; Rosenfeld JA; Laniewski SC; Jones J; Iglesias AD; Jones MC; Masser-Frye D; Scheuerle AE; Perry DL; Taft RJ; Le Deist F; Thompson M; Kinoshita T; Campeau PM
Am J Hum Genet; 2018 Oct; 103(4):602-611. PubMed ID: 30269814
[TBL] [Abstract][Full Text] [Related]
16. Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.
Johnstone DL; Nguyen TT; Murakami Y; Kernohan KD; Tétreault M; Goldsmith C; Doja A; Wagner JD; Huang L; Hartley T; St-Denis A; le Deist F; Majewski J; Bulman DE; ; Kinoshita T; Dyment DA; Boycott KM; Campeau PM
Hum Mol Genet; 2017 May; 26(9):1706-1715. PubMed ID: 28334793
[TBL] [Abstract][Full Text] [Related]
17. Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders.
Bellai-Dussault K; Nguyen TTM; Baratang NV; Jimenez-Cruz DA; Campeau PM
Clin Genet; 2019 Jan; 95(1):112-121. PubMed ID: 30054924
[TBL] [Abstract][Full Text] [Related]
18. Prenatal diagnosis of familial recessive PIGN mutation associated with multiple anomalies: A case report.
Sun L; Yang X; Xu Y; Sun S; Wu Q
Taiwan J Obstet Gynecol; 2021 May; 60(3):530-533. PubMed ID: 33966742
[TBL] [Abstract][Full Text] [Related]
19. Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies.
Knaus A; Kortüm F; Kleefstra T; Stray-Pedersen A; Đukić D; Murakami Y; Gerstner T; van Bokhoven H; Iqbal Z; Horn D; Kinoshita T; Hempel M; Krawitz PM
Am J Hum Genet; 2019 Aug; 105(2):395-402. PubMed ID: 31353022
[TBL] [Abstract][Full Text] [Related]
20. Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.
Davids M; Menezes M; Guo Y; McLean SD; Hakonarson H; Collins F; Worgan L; Billington CJ; Maric I; Littlejohn RO; Onyekweli T; Members Of The Udn ; Adams DR; Tifft CJ; Gahl WA; Wolfe LA; Christodoulou J; Malicdan MCV
Mol Genet Metab; 2020 May; 130(1):49-57. PubMed ID: 32165008
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
