380 related articles for article (PubMed ID: 34327820)
1. A novel likely pathogenic heterozygous HECW2 missense variant in a family with variable expressivity of neurodevelopmental delay, hypotonia, and epileptiform EEG patterns.
Heide EC; Puk O; Biskup S; Krahn A; Rauf E; Kreilkamp BAK; Paulus W; Focke NK
Am J Med Genet A; 2021 Dec; 185(12):3838-3843. PubMed ID: 34327820
[TBL] [Abstract][Full Text] [Related]
2. De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.
Berko ER; Cho MT; Eng C; Shao Y; Sweetser DA; Waxler J; Robin NH; Brewer F; Donkervoort S; Mohassel P; Bönnemann CG; Bialer M; Moore C; Wolfe LA; Tifft CJ; Shen Y; Retterer K; Millan F; Chung WK
J Med Genet; 2017 Feb; 54(2):84-86. PubMed ID: 27389779
[TBL] [Abstract][Full Text] [Related]
3. HECW2-related disorder in four Japanese patients.
Yanagishita T; Hirade T; Shimojima Yamamoto K; Funatsuka M; Miyamoto Y; Maeda M; Yanagi K; Kaname T; Nagata S; Nagata M; Ishihara Y; Miyashita Y; Asano Y; Sakata Y; Kosaki K; Yamamoto T
Am J Med Genet A; 2021 Oct; 185(10):2895-2902. PubMed ID: 34047014
[TBL] [Abstract][Full Text] [Related]
4. A homozygous nonsense HECW2 variant is associated with neurodevelopmental delay and intellectual disability.
Krami AM; Bouzidi A; Charif M; Amalou G; Charoute H; Rouba H; Roky R; Lenaers G; Barakat A; Nahili H
Eur J Med Genet; 2022 Jun; 65(6):104515. PubMed ID: 35487419
[TBL] [Abstract][Full Text] [Related]
5. Delineating the genotypic and phenotypic spectrum of
Acharya A; Kavus H; Dunn P; Nasir A; Folk L; Withrow K; Wentzensen IM; Ruzhnikov MRZ; Fallot C; Smol T; Rama M; Brown K; Whalen S; Ziegler A; Barth M; Chassevent A; Smith-Hicks C; Afenjar A; Courtin T; Heide S; Font-Montgomery E; Heid C; Hamm JA; Love DR; Thabet F; Misra VK; Cunningham M; Leal SM; Jarvela I; Normand EA; Zou F; Helal M; Keren B; Torti E; Chung WK; Schrauwen I
J Med Genet; 2022 Jul; 59(7):669-677. PubMed ID: 34321324
[TBL] [Abstract][Full Text] [Related]
6. A De Novo HECW2 Variant in a Patient with Acetazolamide-Responsive Episodic Ataxia.
Tedesco Silva LM; Sharma S; Schrauwen I; Margolesky J; Detyniecki K
Cerebellum; 2023 Oct; 22(5):1029-1033. PubMed ID: 35987951
[TBL] [Abstract][Full Text] [Related]
7. De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.
Tessarech M; Friocourt G; Marguet F; Lecointre M; Le Mao M; Díaz RM; Mignot C; Keren B; Héron B; De Bie C; Van Gassen K; Loisel D; Delorme B; Syrbe S; Klabunde-Cherwon A; Jamra RA; Wegler M; Callewaert B; Dheedene A; Zidane-Marinnes M; Guichet A; Bris C; Van Bogaert P; Biquard F; Lenaers G; Marcorelles P; Ferec C; Gonzalez B; Procaccio V; Vitobello A; Bonneau D; Laquerriere A; Khiati S; Colin E
Genet Med; 2024 May; 26(5):101087. PubMed ID: 38288683
[TBL] [Abstract][Full Text] [Related]
8. Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene.
Barrie ES; Cottrell CE; Gastier-Foster J; Hickey SE; Patel AD; Santoro SL; Alfaro MP
Eur J Med Genet; 2020 Mar; 63(3):103735. PubMed ID: 31415821
[TBL] [Abstract][Full Text] [Related]
9. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F; McKee S; Rosenfeld JA; Suri M; Lewis AM; Nugent KM; Roeder E; Littlejohn RO; Holder S; Zhu W; Alaimo JT; Graham B; Harris JM; Gibson JB; Pastore M; McBride KL; Komara M; Al-Gazali L; Al Shamsi A; Fanning EA; Wierenga KJ; Scott DA; Ben-Neriah Z; Meiner V; Cassuto H; Elpeleg O; Holder JL; Burrage LC; Seaver LH; Van Maldergem L; Mahida S; Soul JS; Marlatt M; Matyakhina L; Vogt J; Gold JA; Park SM; Varghese V; Lampe AK; Kumar A; Lees M; Holder-Espinasse M; McConnell V; Bernhard B; Blair E; Harrison V; ; Muzny DM; Gibbs RA; Elsea SH; Posey JE; Bi W; Lalani S; Xia F; Yang Y; Eng CM; Lupski JR; Liu P
Genome Med; 2019 Feb; 11(1):12. PubMed ID: 30819258
[TBL] [Abstract][Full Text] [Related]
10. Mutations in HECW2 are associated with intellectual disability and epilepsy.
Halvardson J; Zhao JJ; Zaghlool A; Wentzel C; Georgii-Hemming P; Månsson E; Ederth Sävmarker H; Brandberg G; Soussi Zander C; Thuresson AC; Feuk L
J Med Genet; 2016 Oct; 53(10):697-704. PubMed ID: 27334371
[TBL] [Abstract][Full Text] [Related]
11. De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy.
von Wintzingerode L; Ben-Zeev B; Cesario C; Chan KM; Depienne C; Elpeleg O; Iascone M; Kelley WV; Nassogne MC; Niceta M; Pezzani L; Rahner N; Revencu N; Bekheirnia MR; Santiago-Sim T; Tartaglia M; Thompson ML; Trivisano M; Hentschel J; Sticht H; Abou Jamra R; Oppermann H
Genet Med; 2023 Jul; 25(7):100859. PubMed ID: 37092538
[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. Rett-like features and cortical visual impairment in a Japanese patient with HECW2 mutation.
Nakamura H; Uematsu M; Numata-Uematsu Y; Abe Y; Endo W; Kikuchi A; Takezawa Y; Funayama R; Shirota M; Nakayama K; Niihori T; Aoki Y; Haginoya K; Kure S
Brain Dev; 2018 May; 40(5):410-414. PubMed ID: 29395664
[TBL] [Abstract][Full Text] [Related]
14. First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL.
Rodríguez-García ME; Cotrina-Vinagre FJ; Bellusci M; Hernández-Sánchez L; de Aragón AM; López-Laso E; Martín-Hernández E; Martínez-Azorín F
Hum Mutat; 2022 Oct; 43(10):1361-1367. PubMed ID: 35753050
[TBL] [Abstract][Full Text] [Related]
15. Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype.
Zou F; McWalter K; Schmidt L; Decker A; Picker JD; Lincoln S; Sweetser DA; Briere LC; Harini C; ; Marsh E; Medne L; Wang RY; Leydiker K; Mower A; Visser G; Cuppen I; van Gassen KL; van der Smagt J; Yousaf A; Tennison M; Shanmugham A; Butler E; Richard G; McKnight D
J Neurogenet; 2017; 31(1-2):30-36. PubMed ID: 28460589
[TBL] [Abstract][Full Text] [Related]
16. Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype.
Lamers IJC; Reijnders MRF; Venselaar H; Kraus A; ; Jansen S; de Vries BBA; Houge G; Gradek GA; Seo J; Choi M; Chae JH; van der Burgt I; Pfundt R; Letteboer SJF; van Beersum SEC; Dusseljee S; Brunner HG; Doherty D; Kleefstra T; Roepman R
Am J Hum Genet; 2017 Nov; 101(5):824-832. PubMed ID: 29106825
[TBL] [Abstract][Full Text] [Related]
17. Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.
Fatima A; Hoeber J; Schuster J; Koshimizu E; Maya-Gonzalez C; Keren B; Mignot C; Akram T; Ali Z; Miyatake S; Tanigawa J; Koike T; Kato M; Murakami Y; Abdullah U; Ali MA; Fadoul R; Laan L; Castillejo-López C; Liik M; Jin Z; Birnir B; Matsumoto N; Baig SM; Klar J; Dahl N
Am J Hum Genet; 2021 Apr; 108(4):739-748. PubMed ID: 33711248
[TBL] [Abstract][Full Text] [Related]
18. Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
Parenti I; Lehalle D; Nava C; Torti E; Leitão E; Person R; Mizuguchi T; Matsumoto N; Kato M; Nakamura K; de Man SA; Cope H; Shashi V; ; Friedman J; Joset P; Steindl K; Rauch A; Muffels I; van Hasselt PM; Petit F; Smol T; Le Guyader G; Bilan F; Sorlin A; Vitobello A; Philippe C; van de Laar IMBH; van Slegtenhorst MA; Campeau PM; Au PYB; Nakashima M; Saitsu H; Yamamoto T; Nomura Y; Louie RJ; Lyons MJ; Dobson A; Plomp AS; Motazacker MM; Kaiser FJ; Timberlake AT; Fuchs SA; Depienne C; Mignot C
Hum Genet; 2021 Jul; 140(7):1109-1120. PubMed ID: 33944996
[TBL] [Abstract][Full Text] [Related]
19. Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.
Kuroda Y; Ohashi I; Naruto T; Ida K; Enomoto Y; Saito T; Nagai J; Wada T; Kurosawa K
Am J Med Genet A; 2015 Jun; 167(6):1349-53. PubMed ID: 25900396
[TBL] [Abstract][Full Text] [Related]
20. Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).
Vera G; Sorlin A; Delplancq G; Lecoquierre F; Brasseur-Daudruy M; Petit F; Smol T; Ziegler A; Bonneau D; Colin E; Mercier S; Cogné B; Bézieau S; Edery P; Lesca G; Chatron N; Sabatier I; Duban-Bedu B; Colson C; Piton A; Durand B; Capri Y; Perrin L; Wiesener A; Zweier C; Maroofian R; Carroll CJ; Galehdari H; Mazaheri N; Callewaert B; Giulianno F; Zaafrane-Khachnaoui K; Buchert-Lo R; Haack T; Magg J; Rieß A; Blandfort M; Waldmüller S; Horber V; Leonardi E; Polli R; Turolla L; Murgia A; Frebourg T; Lebre AS; Nicolas G; Saugier-Veber P; Guerrot AM
Eur J Med Genet; 2020 Oct; 63(10):104004. PubMed ID: 32688057
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
