126 related articles for article (PubMed ID: 38044714)
1. CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.
Al-Kateb H; Au PYB; Berland S; Cogne B; Demurger F; Fluss J; Isidor B; Frank LM; Varvagiannis K; Koolen DA; McDonald M; Montgomery S; Moortgat S; Deprez M; Karadurmus D; Paulsen J; Reis A; Rieger M; Vasileiou G; Willing M; Shinawi M
Clin Genet; 2024 Mar; 105(3):294-301. PubMed ID: 38044714
[TBL] [Abstract][Full Text] [Related]
2. Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes.
Shinawi M; Coorg R; Shimony JS; Grange DK; Al-Kateb H
Clin Genet; 2015 May; 87(5):478-82. PubMed ID: 24738973
[TBL] [Abstract][Full Text] [Related]
3. Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.
Jacobs EZ; Brown K; Byler MC; D'haenens E; Dheedene A; Henderson LB; Humberson JB; van Jaarsveld RH; Kanani F; Lebel RR; Millan F; Oegema R; Oostra A; Parker MJ; Rhodes L; Saenz M; Seaver LH; Si Y; Vanlander A; Vergult S; Callewaert B
Clin Genet; 2021 Feb; 99(2):259-268. PubMed ID: 33131045
[TBL] [Abstract][Full Text] [Related]
4. Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant.
Dzinovic I; Serranová T; Prouteau C; Colin E; Ziegler A; Winkelmann J; Jech R; Zech M
Neurogenetics; 2021 May; 22(2):137-141. PubMed ID: 33677721
[TBL] [Abstract][Full Text] [Related]
5. De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability.
Wijnen IGM; Veenstra-Knol HE; Vansenne F; Gerkes EH; de Koning T; Vos YJ; Tijssen MAJ; Sival D; Darin N; Vanhoutte EK; Oosterloo M; Pennings M; van de Warrenburg BP; Kamsteeg EJ
Eur J Hum Genet; 2020 Jun; 28(6):763-769. PubMed ID: 32157189
[TBL] [Abstract][Full Text] [Related]
6. Neuropsychological and neuroimaging phenotype induced by a CAMTA1 mutation.
Magnin E; Blagosklonov O; Sylvestre G; Minot D; Thevenon J; Faivre L; Boulahdour H; Thauvin-Robinet C; Rumbach L
Brain Dev; 2014 Sep; 36(8):711-5. PubMed ID: 24145135
[TBL] [Abstract][Full Text] [Related]
7. Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.
Thevenon J; Lopez E; Keren B; Heron D; Mignot C; Altuzarra C; Béri-Dexheimer M; Bonnet C; Magnin E; Burglen L; Minot D; Vigneron J; Morle S; Anheim M; Charles P; Brice A; Gallagher L; Amiel J; Haffen E; Mach C; Depienne C; Doummar D; Bonnet M; Duplomb L; Carmignac V; Callier P; Marle N; Mosca-Boidron AL; Roze V; Aral B; Razavi F; Jonveaux P; Faivre L; Thauvin-Robinet C
J Med Genet; 2012 Jun; 49(6):400-8. PubMed ID: 22693284
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Calmodulin-binding transcription activator 1 (CAMTA1) alleles predispose human episodic memory performance.
Huentelman MJ; Papassotiropoulos A; Craig DW; Hoerndli FJ; Pearson JV; Huynh KD; Corneveaux J; Hänggi J; Mondadori CR; Buchmann A; Reiman EM; Henke K; de Quervain DJ; Stephan DA
Hum Mol Genet; 2007 Jun; 16(12):1469-77. PubMed ID: 17470457
[TBL] [Abstract][Full Text] [Related]
10. Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations.
Rech ME; McCarthy JM; Chen CA; Edmond JC; Shah VS; Bosch DGM; Berry GT; Williams L; Madan-Khetarpal S; Niyazov D; Shaw-Smith C; Kovar EM; Lupo PJ; Schaaf CP
Am J Med Genet A; 2020 Jun; 182(6):1426-1437. PubMed ID: 32275123
[TBL] [Abstract][Full Text] [Related]
11. The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.
Dingemans AJM; Truijen KMG; van de Ven S; Bernier R; Bongers EMHF; Bouman A; de Graaff-Herder L; Eichler EE; Gerkes EH; De Geus CM; van Hagen JM; Jansen PR; Kerkhof J; Kievit AJA; Kleefstra T; Maas SM; de Man SA; McConkey H; Patterson WG; Dobson AT; Prijoles EJ; Sadikovic B; Relator R; Stevenson RE; Stumpel CTRM; Heijligers M; Stuurman KE; Löhner K; Zeidler S; Lee JA; Lindy A; Zou F; Tedder ML; Vissers LELM; de Vries BBA
Transl Psychiatry; 2022 Oct; 12(1):421. PubMed ID: 36182950
[TBL] [Abstract][Full Text] [Related]
12. The role of Calmodulin Binding Transcription Activator 1 (CAMTA1) gene and its putative genetic partners in the human nervous system.
Alves G; Ornellas MH; Liehr T
Psychogeriatrics; 2022 Nov; 22(6):869-878. PubMed ID: 35949142
[TBL] [Abstract][Full Text] [Related]
13. The calmodulin-binding transcription activator CAMTA1 is required for long-term memory formation in mice.
Bas-Orth C; Tan YW; Oliveira AM; Bengtson CP; Bading H
Learn Mem; 2016 Jun; 23(6):313-21. PubMed ID: 27194798
[TBL] [Abstract][Full Text] [Related]
14. Cell cycle-dependent transcriptional regulation of calmodulin-binding transcription activator 1 in neuroblastoma cells.
Nakatani K; Nishioka J; Itakura T; Nakanishi Y; Horinouchi J; Abe Y; Wada H; Nobori T
Int J Oncol; 2004 Jun; 24(6):1407-12. PubMed ID: 15138581
[TBL] [Abstract][Full Text] [Related]
15. The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
Kumble S; Levy AM; Punetha J; Gao H; Ah Mew N; Anyane-Yeboa K; Benke PJ; Berger SM; Bjerglund L; Campos-Xavier B; Ciliberto M; Cohen JS; Comi AM; Curry C; Damaj L; Denommé-Pichon AS; Emrick L; Faivre L; Fasano MB; Fiévet A; Finkel RS; García-Miñaúr S; Gerard A; Gomez-Puertas P; Guillen Sacoto MJ; Hoffman TL; Howard L; Iglesias AD; Izumi K; Larson A; Leiber A; Lozano R; Marcos-Alcalde I; Mintz CS; Mullegama SV; Møller RS; Odent S; Oppermann H; Ostergaard E; Pacio-Míguez M; Palomares-Bralo M; Parikh S; Paulson AM; Platzer K; Posey JE; Potocki L; Revah-Politi A; Rio M; Ritter AL; Robinson S; Rosenfeld JA; Santos-Simarro F; Sousa SB; ; Wéber M; Xie Y; Chung WK; Brown NJ; Tümer Z
Hum Mutat; 2022 Feb; 43(2):266-282. PubMed ID: 34859529
[TBL] [Abstract][Full Text] [Related]
16. De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy.
Nabais Sá MJ; Venselaar H; Wiel L; Trimouille A; Lasseaux E; Naudion S; Lacombe D; Piton A; Vincent-Delorme C; Zweier C; Reis A; Trollmann R; Ruiz A; Gabau E; Vetro A; Guerrini R; Bakhtiari S; Kruer MC; Amor DJ; Cooper MS; Bijlsma EK; Barakat TS; van Dooren MF; van Slegtenhorst M; Pfundt R; Gilissen C; Willemsen MA; de Vries BBA; de Brouwer APM; Koolen DA
Genet Med; 2020 Apr; 22(4):797-802. PubMed ID: 31776469
[TBL] [Abstract][Full Text] [Related]
17. CAMTA 1 regulates drought responses in Arabidopsis thaliana.
Pandey N; Ranjan A; Pant P; Tripathi RK; Ateek F; Pandey HP; Patre UV; Sawant SV
BMC Genomics; 2013 Apr; 14():216. PubMed ID: 23547968
[TBL] [Abstract][Full Text] [Related]
18. De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth.
Schäfgen J; Cremer K; Becker J; Wieland T; Zink AM; Kim S; Windheuser IC; Kreiß M; Aretz S; Strom TM; Wieczorek D; Engels H
Eur J Hum Genet; 2016 Dec; 24(12):1739-1745. PubMed ID: 27436265
[TBL] [Abstract][Full Text] [Related]
19. Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.
Sewani S; Azamian MS; Mendelsohn BA; Mau-Them FT; Réda M; Nambot S; Isidor B; van der Smagt JJ; Shen JJ; Shillington A; White L; Elloumi HZ; Baker PR; Svihovec S; Brown K; Koopman-Keemink Y; Hoffer MJV; Lakeman IMM; Brischoux-Boucher E; Kinali M; Zhao X; Lalani SR; Scott DA
Am J Med Genet A; 2024 Mar; 194(3):e63445. PubMed ID: 37872713
[TBL] [Abstract][Full Text] [Related]
20. Integrator of Stress Responses Calmodulin Binding Transcription Activator 1 (Camta1) Regulates miR-212/miR-132 Expression and Insulin Secretion.
Mollet IG; Malm HA; Wendt A; Orho-Melander M; Eliasson L
J Biol Chem; 2016 Aug; 291(35):18440-52. PubMed ID: 27402838
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
