140 related articles for article (PubMed ID: 37125481)
1. Expanding the phenotype of PIGP deficiency to multiple congenital anomalies-hypotonia-seizures syndrome.
Martín-Grau C; Orellana Alonso C; Roselló Piera M; Pedrola Vidal L; Llorens-Salvador R; Quiroga R; Marín Reina P; Rubio Moll JS; Gómez Portero R; Martínez-Castellano F
Clin Genet; 2023 Aug; 104(2):245-250. PubMed ID: 37125481
[TBL] [Abstract][Full Text] [Related]
2. Multisystem disorders, severe developmental delay and seizures in two affected siblings, expanding the phenotype of PIGC deficiency.
Pons L; Sabatier I; Alix E; Faoucher M; Labalme A; Sanlaville D; Lesca G
Eur J Med Genet; 2020 Oct; 63(10):103994. PubMed ID: 32707268
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Yang J; Wang Q; Zhuo Q; Tian H; Li W; Luo F; Zhang J; Bi D; Peng J; Zhou D; Xin H
Mol Genet Genomic Med; 2018 Sep; 6(5):739-748. PubMed ID: 29974678
[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. PIGQ glycosylphosphatidylinositol-anchored protein deficiency: Characterizing the phenotype.
Starr LJ; Spranger JW; Rao VK; Lutz R; Yetman AT
Am J Med Genet A; 2019 Jul; 179(7):1270-1275. PubMed ID: 31148362
[TBL] [Abstract][Full Text] [Related]
7. Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.
Johnstone DL; Nguyen TTM; Zambonin J; Kernohan KD; St-Denis A; Baratang NV; Hartley T; Geraghty MT; Richer J; Majewski J; Bareke E; Guerin A; Pendziwiat M; Pena LDM; Braakman HMH; Gripp KW; Edmondson AC; He M; Spillmann RC; Eklund EA; Bayat A; McMillan HJ; Boycott KM; Campeau PM
J Inherit Metab Dis; 2020 Nov; 43(6):1321-1332. PubMed ID: 32588908
[TBL] [Abstract][Full Text] [Related]
8. The correlation between multiple congenital anomalies hypotonia seizures syndrome 2 and PIGA: a case of novel PIGA germline variant and literature review.
Liu X; Meng J; Ma J; Shu J; Gu C; Chen X; Li D; Cai C
Mol Biol Rep; 2022 Nov; 49(11):10469-10477. PubMed ID: 36116096
[TBL] [Abstract][Full Text] [Related]
9. Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Caused by a Novel
Gabaldon-Albero A; Cordon L; Sempere A; Pedrola L; Martin-Grau C; Oltra S; Monfort S; Caro-Llopis A; Dominguez-Martinez M; Hernandez-Muela S; Rosello M; Orellana C; Martinez F
Genes (Basel); 2024 Jun; 15(6):. PubMed ID: 38927738
[TBL] [Abstract][Full Text] [Related]
10. Analyzing clinical and genetic characteristics of a cohort with multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS).
Jiao X; Xue J; Gong P; Bao X; Wu Y; Zhang Y; Jiang Y; Yang Z
Orphanet J Rare Dis; 2020 Mar; 15(1):78. PubMed ID: 32220244
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.
Couser NL; Masood MM; Strande NT; Foreman AK; Crooks K; Weck KE; Lu M; Wilhelmsen KC; Roche M; Evans JP; Berg JS; Powell CM
Am J Med Genet A; 2015 Sep; 167A(9):2176-81. PubMed ID: 25920937
[TBL] [Abstract][Full Text] [Related]
13. Compound Heterozygous
Hur YJ; Lee BL; Chung WY; Yu S; Jun KR; Oh SH
Ann Clin Lab Sci; 2021 May; 51(3):422-425. PubMed ID: 34162574
[TBL] [Abstract][Full Text] [Related]
14. Biallelic mutations in
Krenn M; Knaus A; Westphal DS; Wortmann SB; Polster T; Woermann FG; Karenfort M; Mayatepek E; Meitinger T; Wagner M; Distelmaier F
Ann Clin Transl Neurol; 2019 May; 6(5):968-973. PubMed ID: 31139695
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.
van der Crabben SN; Harakalova M; Brilstra EH; van Berkestijn FM; Hofstede FC; van Vught AJ; Cuppen E; Kloosterman W; Ploos van Amstel HK; van Haaften G; van Haelst MM
Am J Med Genet A; 2014 Jan; 164A(1):29-35. PubMed ID: 24259184
[TBL] [Abstract][Full Text] [Related]
17. Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3.
Nakashima M; Kashii H; Murakami Y; Kato M; Tsurusaki Y; Miyake N; Kubota M; Kinoshita T; Saitsu H; Matsumoto N
Neurogenetics; 2014 Aug; 15(3):193-200. PubMed ID: 24906948
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. [Genetic analysis of a child with Multiple congenital anomalies-hypotonia-seizures syndrome 1 due to variant of PIGN gene].
Wang B; Sui J; Dong J; Zhang X; Han M; Liu S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 May; 41(5):565-570. PubMed ID: 38684302
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
