152 related articles for article (PubMed ID: 37589195)
1. Congenital diaphragmatic hernia in siblings with PIGA-related congenital disorder of glycosylation.
Crenshaw MM; Thompson L; Piqué DG; Micke K; Saenz M; Baker PR
Am J Med Genet A; 2023 Dec; 191(12):2860-2867. PubMed ID: 37589195
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Case report: Functional characterization of a
Salinas-Marín R; Murakami Y; González-Domínguez CA; Cruz-Muñoz ME; Mora-Montes HM; Morava E; Kinoshita T; Monroy-Santoyo S; Martínez-Duncker I
Front Genet; 2022; 13():971473. PubMed ID: 36324500
[TBL] [Abstract][Full Text] [Related]
5. 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]
6.
Thorpe HJ; Owings KG; Aziz MC; Haller M; Coelho E; Chow CY
bioRxiv; 2023 Oct; ():. PubMed ID: 37961693
[TBL] [Abstract][Full Text] [Related]
7. Lessons learned from 40 novel PIGA patients and a review of the literature.
Bayat A; Knaus A; Pendziwiat M; Afenjar A; Barakat TS; Bosch F; Callewaert B; Calvas P; Ceulemans B; Chassaing N; Depienne C; Endziniene M; Ferreira CR; Moura de Souza CF; Freihuber C; Ganesan S; Gataullina S; Guerrini R; Guerrot AM; Hansen L; Jezela-Stanek A; Karsenty C; Kievit A; Kooy FR; Korff CM; Kragh Hansen J; Larsen M; Layet V; Lesca G; McBride KL; Meuwissen M; Mignot C; Montomoli M; Moore H; Naudion S; Nava C; Nougues MC; Parrini E; Pastore M; Schelhaas JH; Skinner S; Szczałuba K; Thomas A; Thomassen M; Tranebjaerg L; van Slegtenhorst M; Wolfe LA; Lal D; Gardella E; Bomme Ousager L; Brünger T; Helbig I; Krawitz P; Møller RS
Epilepsia; 2020 Jun; 61(6):1142-1155. PubMed ID: 32452540
[TBL] [Abstract][Full Text] [Related]
8. Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.
Yu L; Bennett JT; Wynn J; Carvill GL; Cheung YH; Shen Y; Mychaliska GB; Azarow KS; Crombleholme TM; Chung DH; Potoka D; Warner BW; Bucher B; Lim FY; Pietsch J; Stolar C; Aspelund G; Arkovitz MS; ; Mefford H; Chung WK
J Med Genet; 2014 Mar; 51(3):197-202. PubMed ID: 24385578
[TBL] [Abstract][Full Text] [Related]
9. De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.
Qi H; Yu L; Zhou X; Wynn J; Zhao H; Guo Y; Zhu N; Kitaygorodsky A; Hernan R; Aspelund G; Lim FY; Crombleholme T; Cusick R; Azarow K; Danko ME; Chung D; Warner BW; Mychaliska GB; Potoka D; Wagner AJ; ElFiky M; Wilson JM; Nickerson D; Bamshad M; High FA; Longoni M; Donahoe PK; Chung WK; Shen Y
PLoS Genet; 2018 Dec; 14(12):e1007822. PubMed ID: 30532227
[TBL] [Abstract][Full Text] [Related]
10. Congenital diaphragmatic hernia and early lethality in PIGL-related disorder.
Winter-Paquette LM; Al Suwaidi HH; Sajjad Y; Bricker L
Eur J Med Genet; 2022 May; 65(5):104501. PubMed ID: 35378319
[TBL] [Abstract][Full Text] [Related]
11. Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH.
Scott TM; Campbell IM; Hernandez-Garcia A; Lalani SR; Liu P; Shaw CA; Rosenfeld JA; Scott DA
J Med Genet; 2022 Mar; 59(3):270-278. PubMed ID: 33461977
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Deciphering the premature mortality in PIGA-CDG - An untold story.
Bayat A; Kløvgaard M; Johannesen KM; Barakat TS; Kievit A; Montomoli M; Parrini E; Pietrafusa N; Schelhaas J; van Slegtenhorst M; Miya K; Guerrini R; Tranebjærg L; Tümer Z; Rubboli G; Møller RS
Epilepsy Res; 2021 Feb; 170():106530. PubMed ID: 33508693
[TBL] [Abstract][Full Text] [Related]
15. PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.
Petit F; Longoni M; Wells J; Maser RS; Bogenschutz EL; Dysart MJ; Contreras HTM; Frénois F; Pober BR; Clark RD; Giampietro PF; Ropers HH; Hu H; Loscertales M; Wagner R; Ai X; Brand H; Jourdain AS; Delrue MA; Gilbert-Dussardier B; Devisme L; Keren B; McCulley DJ; Qiao L; Hernan R; Wynn J; Scott TM; Calame DG; Coban-Akdemir Z; Hernandez P; Hernandez-Garcia A; Yonath H; Lupski JR; Shen Y; Chung WK; Scott DA; Bult CJ; Donahoe PK; High FA
Am J Hum Genet; 2023 Oct; 110(10):1787-1803. PubMed ID: 37751738
[TBL] [Abstract][Full Text] [Related]
16. The genotypic and phenotypic spectrum of PIGA deficiency.
Tarailo-Graovac M; Sinclair G; Stockler-Ipsiroglu S; Van Allen M; Rozmus J; Shyr C; Biancheri R; Oh T; Sayson B; Lafek M; Ross CJ; Robinson WP; Wasserman WW; Rossi A; van Karnebeek CD
Orphanet J Rare Dis; 2015 Feb; 10():23. PubMed ID: 25885527
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. A Novel Mutation in
Neuhofer CM; Funke R; Wilken B; Knaus A; Altmüller J; Nürnberg P; Li Y; Wollnik B; Burfeind P; Pauli S
Mol Syndromol; 2020 Feb; 11(1):30-37. PubMed ID: 32256299
[TBL] [Abstract][Full Text] [Related]
19. Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia.
Brady PD; Moerman P; De Catte L; Deprest J; Devriendt K; Vermeesch JR
Eur J Med Genet; 2014 Sep; 57(9):487-93. PubMed ID: 24852103
[TBL] [Abstract][Full Text] [Related]
20. The influence of genetics in congenital diaphragmatic hernia.
Yu L; Hernan RR; Wynn J; Chung WK
Semin Perinatol; 2020 Feb; 44(1):151169. PubMed ID: 31443905
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]