127 related articles for article (PubMed ID: 31395947)
1. Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities.
Bend R; Cohen L; Carter MT; Lyons MJ; Niyazov D; Mikati MA; Rojas SK; Person RE; Si Y; Wentzensen IM; ; Torti E; Lee JA; Boycott KM; Basel-Salmon L; Ferreira CR; Gonzaga-Jauregui C
Eur J Hum Genet; 2020 Jan; 28(1):76-87. PubMed ID: 31395947
[TBL] [Abstract][Full Text] [Related]
2. Mutations of PTPN23 in developmental and epileptic encephalopathy.
Sowada N; Hashem MO; Yilmaz R; Hamad M; Kakar N; Thiele H; Arold ST; Bode H; Alkuraya FS; Borck G
Hum Genet; 2017 Nov; 136(11-12):1455-1461. PubMed ID: 29090338
[TBL] [Abstract][Full Text] [Related]
3. Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs.
Smigiel R; Landsberg G; Schilling M; Rydzanicz M; Pollak A; Walczak A; Stodolak A; Stawinski P; Mierzewska H; Sasiadek MM; Gruss OJ; Ploski R
Eur J Hum Genet; 2018 Oct; 26(10):1502-1511. PubMed ID: 29899372
[TBL] [Abstract][Full Text] [Related]
4. Final Exon Frameshift Biallelic
Khalaf-Nazzal R; Fasham J; Ubeyratna N; Evans DJ; Leslie JS; Warner TT; Al-Hijawi F; Alshaer S; Baker W; Turnpenny PD; Baple EL; Crosby AH
Brain Sci; 2021 May; 11(5):. PubMed ID: 34064836
[TBL] [Abstract][Full Text] [Related]
5. De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
Chilton I; Okur V; Vitiello G; Selicorni A; Mariani M; Goldenberg A; Husson T; Campion D; Lichtenbelt KD; van Gassen K; Steinraths M; Rice J; Roeder ER; Littlejohn RO; Srour M; Sebire G; Accogli A; Héron D; Heide S; Nava C; Depienne C; Larson A; Niyazov D; Azage M; Hoganson G; Burton J; Rush ET; Jenkins JL; Saunders CJ; Thiffault I; Alaimo JT; Fleischer J; Groepper D; Gripp KW; Chung WK
Am J Med Genet A; 2020 May; 182(5):962-973. PubMed ID: 32031333
[TBL] [Abstract][Full Text] [Related]
6. Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.
Almannai M; Marafi D; Zaki MS; Maroofian R; Efthymiou S; Saadi NW; Filimban B; Dafsari HS; Rahman F; Maqbool S; Faqeih E; Al Mutairi F; Alsharhan H; Abdelaty O; Bin-Hasan S; Duan R; Noureldeen MM; Alqattan A; Houlden H; Hunter JV; Posey JE; Lupski JR; El-Hattab AW
Clin Genet; 2024 Jun; 105(6):620-629. PubMed ID: 38356149
[TBL] [Abstract][Full Text] [Related]
7. Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Maroofian R; Kaiyrzhanov R; Cali E; Zamani M; Zaki MS; Ferla M; Tortora D; Sadeghian S; Saadi SM; Abdullah U; Karimiani EG; Efthymiou S; Yeşil G; Alavi S; Al Shamsi AM; Tajsharghi H; Abdel-Hamid MS; Saadi NW; Al Mutairi F; Alabdi L; Beetz C; Ali Z; Toosi MB; Rudnik-Schöneborn S; Babaei M; Isohanni P; Muhammad J; Khan S; Al Shalan M; Hickey SE; Marom D; Elhanan E; Kurian MA; Marafi D; Saberi A; Hamid M; Spaull R; Meng L; Lalani S; Maqbool S; Rahman F; Seeger J; Palculict TB; Lau T; Murphy D; Mencacci NE; Steindl K; Begemann A; Rauch A; Akbas S; Aslanger AD; Salpietro V; Yousaf H; Ben-Shachar S; Ejeskär K; Al Aqeel AI; High FA; Armstrong-Javors AE; Zahraei SM; Seifi T; Zeighami J; Shariati G; Sedaghat A; Asl SN; Shahrooei M; Zifarelli G; Burglen L; Ravelli C; Zschocke J; Schatz UA; Ghavideldarestani M; Kamel WA; Van Esch H; Hackenberg A; Taylor JC; Al-Gazali L; Bauer P; Gleeson JJ; Alkuraya FS; Lupski JR; Galehdari H; Azizimalamiri R; Chung WK; Baig SM; Houlden H; Severino M
Brain; 2023 Dec; 146(12):5031-5043. PubMed ID: 37517035
[TBL] [Abstract][Full Text] [Related]
8. Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
Duncan AR; Polovitskaya MM; Gaitán-Peñas H; Bertelli S; VanNoy GE; Grant PE; O'Donnell-Luria A; Valivullah Z; Lovgren AK; England EM; Agolini E; Madden JA; Schmitz-Abe K; Kritzer A; Hawley P; Novelli A; Alfieri P; Colafati GS; Wieczorek D; Platzer K; Luppe J; Koch-Hogrebe M; Abou Jamra R; Neira-Fresneda J; Lehman A; Boerkoel CF; Seath K; Clarke L; ; van Ierland Y; Argilli E; Sherr EH; Maiorana A; Diel T; Hempel M; Bierhals T; Estévez R; Jentsch TJ; Pusch M; Agrawal PB
Am J Hum Genet; 2021 Aug; 108(8):1450-1465. PubMed ID: 34186028
[TBL] [Abstract][Full Text] [Related]
9. Suppression of protein tyrosine phosphatase N23 predisposes to breast tumorigenesis via activation of FYN kinase.
Zhang S; Fan G; Hao Y; Hammell M; Wilkinson JE; Tonks NK
Genes Dev; 2017 Oct; 31(19):1939-1957. PubMed ID: 29066500
[TBL] [Abstract][Full Text] [Related]
10. Role of ESCRT component HD-PTP/
Gingras MC; Kazan JM; Pause A
Biochem Soc Trans; 2017 Jun; 45(3):845-854. PubMed ID: 28620046
[TBL] [Abstract][Full Text] [Related]
11. Schaaf-Yang syndrome overview: Report of 78 individuals.
McCarthy J; Lupo PJ; Kovar E; Rech M; Bostwick B; Scott D; Kraft K; Roscioli T; Charrow J; Schrier Vergano SA; Lose E; Smiegel R; Lacassie Y; Schaaf CP
Am J Med Genet A; 2018 Dec; 176(12):2564-2574. PubMed ID: 30302899
[TBL] [Abstract][Full Text] [Related]
12. Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
Kim HG; Rosenfeld JA; Scott DA; Bénédicte G; Labonne JD; Brown J; McGuire M; Mahida S; Naidu S; Gutierrez J; Lesca G; des Portes V; Bruel AL; Sorlin A; Xia F; Capri Y; Muller E; McKnight D; Torti E; Rüschendorf F; Hummel O; Islam Z; Kolatkar PR; Layman LC; Ryu D; Kong IK; Madan-Khetarpal S; Kim CH
Mol Autism; 2019; 10():35. PubMed ID: 31649809
[TBL] [Abstract][Full Text] [Related]
13. ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants.
Kloth K; Lozic B; Tagoe J; Hoffer MJV; Van der Ven A; Thiele H; Altmüller J; Kubisch C; Au PYB; Denecke J; Bijlsma EK; Lessel D
Neurogenetics; 2021 Oct; 22(4):263-269. PubMed ID: 34218362
[TBL] [Abstract][Full Text] [Related]
14. Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Syrbe S; Harms FL; Parrini E; Montomoli M; Mütze U; Helbig KL; Polster T; Albrecht B; Bernbeck U; van Binsbergen E; Biskup S; Burglen L; Denecke J; Heron B; Heyne HO; Hoffmann GF; Hornemann F; Matsushige T; Matsuura R; Kato M; Korenke GC; Kuechler A; Lämmer C; Merkenschlager A; Mignot C; Ruf S; Nakashima M; Saitsu H; Stamberger H; Pisano T; Tohyama J; Weckhuysen S; Werckx W; Wickert J; Mari F; Verbeek NE; Møller RS; Koeleman B; Matsumoto N; Dobyns WB; Battaglia D; Lemke JR; Kutsche K; Guerrini R
Brain; 2017 Sep; 140(9):2322-2336. PubMed ID: 29050398
[TBL] [Abstract][Full Text] [Related]
15. De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
Fan Y; Yin W; Hu B; Kline AD; Zhang VW; Liang D; Sun Y; Wang L; Tang S; Powis Z; Li L; Yan H; Shi Z; Yang X; Chen Y; Wang J; Jiang Y; Tan H; Gu X; Wu L; Yu Y
Am J Hum Genet; 2018 Sep; 103(3):448-455. PubMed ID: 30122539
[TBL] [Abstract][Full Text] [Related]
16. Expression analysis and essential role of the putative tyrosine phosphatase His-domain-containing protein tyrosine phosphatase (HD-PTP).
Gingras MC; Kharitidi D; Chénard V; Uetani N; Bouchard M; Tremblay ML; Pause A
Int J Dev Biol; 2009; 53(7):1069-74. PubMed ID: 19378249
[TBL] [Abstract][Full Text] [Related]
17. Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.
Stephen J; Maddirevula S; Nampoothiri S; Burke JD; Herzog M; Shukla A; Steindl K; Eskin A; Patil SJ; Joset P; Lee H; Garrett LJ; Yokoyama T; Balanda N; Bodine SP; Tolman NJ; Zerfas PM; Zheng A; Ramantani G; Girisha KM; Rivas C; Suresh PV; Elkahloun A; Alsaif HS; Wakil SM; Mahmoud L; Ali R; Prochazkova M; ; Kulkarni AB; Ben-Omran T; Colak D; Morris HD; Rauch A; Martinez-Agosto JA; Nelson SF; Alkuraya FS; Gahl WA; Malicdan MCV
Am J Hum Genet; 2018 Dec; 103(6):948-967. PubMed ID: 30526868
[TBL] [Abstract][Full Text] [Related]
18. WDR45B-related intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia: A consistent neurodevelopmental syndrome.
Suleiman J; Allingham-Hawkins D; Hashem M; Shamseldin HE; Alkuraya FS; El-Hattab AW
Clin Genet; 2018 Feb; 93(2):360-364. PubMed ID: 28503735
[TBL] [Abstract][Full Text] [Related]
19. Genetic Variants in Protein Tyrosine Phosphatase Non-Receptor Type 23 Are Responsible for Mesiodens Formation.
Adisornkanj P; Chanprasit R; Eliason S; Fons JM; Intachai W; Tongsima S; Olsen B; Arold ST; Ngamphiw C; Amendt BA; Tucker AS; Kantaputra P
Biology (Basel); 2023 Mar; 12(3):. PubMed ID: 36979085
[TBL] [Abstract][Full Text] [Related]
20. Homozygous nonsense mutation in SCHIP1/IQCJ-SCHIP1 causes a neurodevelopmental brain malformation syndrome.
Elsaid MF; Chalhoub N; Ben-Omran T; Kamel H; Al Mureikhi M; Ibrahim K; Elizabeth Ross M; Abdel Aleem AK
Clin Genet; 2018 Feb; 93(2):387-391. PubMed ID: 28787085
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
