138 related articles for article (PubMed ID: 37454340)
1. Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency.
Levy T; Pichardo T; Silver H; Lerman B; Zweifach J; Halpern D; Siper PM; Kolevzon A; Buxbaum JD
Hum Genet; 2023 Sep; 142(9):1385-1394. PubMed ID: 37454340
[TBL] [Abstract][Full Text] [Related]
2. CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories.
Amenta S; Marangi G; Orteschi D; Frangella S; Gurrieri F; Paccagnella E; ; Scala M; Romano F; Capra V; Nigro V; Zollino M
Eur J Hum Genet; 2023 Jun; 31(6):648-653. PubMed ID: 36797464
[TBL] [Abstract][Full Text] [Related]
3.
Abi Raad S; Yazbeck Karam V; Chouery E; Mehawej C; Megarbane A
Genes (Basel); 2023 Jul; 14(8):. PubMed ID: 37628598
[TBL] [Abstract][Full Text] [Related]
4. CHAMP1 disorder is associated with a complex neurobehavioral phenotype including autism, ADHD, repetitive behaviors and sensory symptoms.
Levy T; Lerman B; Halpern D; Frank Y; Layton C; Zweifach J; Siper PM; Buxbaum JD; Kolevzon A
Hum Mol Genet; 2022 Aug; 31(15):2582-2594. PubMed ID: 35271727
[TBL] [Abstract][Full Text] [Related]
5. Neurodevelopmental phenotypes in individuals with pathogenic variants in
Garrity M; Kavus H; Rojas-Vasquez M; Valenzuela I; Larson A; Reed S; Bellus G; Mignot C; Munnich A; Isidor B; Chung WK
Cold Spring Harb Mol Case Stud; 2021 Aug; 7(4):. PubMed ID: 34021018
[TBL] [Abstract][Full Text] [Related]
6. De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.
Hempel M; Cremer K; Ockeloen CW; Lichtenbelt KD; Herkert JC; Denecke J; Haack TB; Zink AM; Becker J; Wohlleber E; Johannsen J; Alhaddad B; Pfundt R; Fuchs S; Wieczorek D; Strom TM; van Gassen KL; Kleefstra T; Kubisch C; Engels H; Lessel D
Am J Hum Genet; 2015 Sep; 97(3):493-500. PubMed ID: 26340335
[TBL] [Abstract][Full Text] [Related]
7. De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability.
Isidor B; Küry S; Rosenfeld JA; Besnard T; Schmitt S; Joss S; Davies SJ; Lebel RR; Henderson A; Schaaf CP; Streff HE; Yang Y; Jain V; Chida N; Latypova X; Le Caignec C; Cogné B; Mercier S; Vincent M; Colin E; Bonneau D; Denommé AS; Parent P; Gilbert-Dussardier B; Odent S; Toutain A; Piton A; Dina C; Donnart A; Lindenbaum P; Charpentier E; Redon R; Iemura K; Ikeda M; Tanaka K; Bézieau S
Hum Mutat; 2016 Apr; 37(4):354-8. PubMed ID: 26751395
[TBL] [Abstract][Full Text] [Related]
8. [Autosomal dominant intellectual disability-40 caused by a de novo mutation of the CHAMP1 gene: a case report].
Wang MM; Zhu DN; Li SS; Zhang GY; Yang L; Zhao YX; Liu HY
Zhongguo Dang Dai Er Ke Za Zhi; 2020 Oct; 22(10):1131-1134. PubMed ID: 33059813
[TBL] [Abstract][Full Text] [Related]
9. [Analysis of a child with autosomal dominant mental retardation type 40 due to variant of CHAMP1 gene].
Xu J; Li J; Jiao Z; Sun G; Chen D; Kong X; Wang L
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jan; 40(1):47-52. PubMed ID: 36585000
[TBL] [Abstract][Full Text] [Related]
10. Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.
Latypova X; Vincent M; Mollé A; Adebambo OA; Fourgeux C; Khan TN; Caro A; Rosello M; Orellana C; Niyazov D; Lederer D; Deprez M; Capri Y; Kannu P; Tabet AC; Levy J; Aten E; den Hollander N; Splitt M; Walia J; Immken LL; Stankiewicz P; McWalter K; Suchy S; Louie RJ; Bell S; Stevenson RE; Rousseau J; Willem C; Retiere C; Yang XJ; Campeau PM; Martinez F; Rosenfeld JA; Le Caignec C; Küry S; Mercier S; Moradkhani K; Conrad S; Besnard T; Cogné B; Katsanis N; Bézieau S; Poschmann J; Davis EE; Isidor B
Am J Hum Genet; 2021 May; 108(5):929-941. PubMed ID: 33811806
[TBL] [Abstract][Full Text] [Related]
11. Prospective investigation of FOXP1 syndrome.
Siper PM; De Rubeis S; Trelles MDP; Durkin A; Di Marino D; Muratet F; Frank Y; Lozano R; Eichler EE; Kelly M; Beighley J; Gerdts J; Wallace AS; Mefford HC; Bernier RA; Kolevzon A; Buxbaum JD
Mol Autism; 2017; 8():57. PubMed ID: 29090079
[TBL] [Abstract][Full Text] [Related]
12. Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.
Niceta M; Pizzi S; Inzana F; Peron A; Bakhtiari S; Nizon M; Levy J; Mancini C; Cogné B; Radio FC; Agolini E; Cocciadiferro D; Novelli A; Salih MA; Recalcati MP; Arancio R; Besnard M; Tabet AC; Kruer MC; Priolo M; Dallapiccola B; Tartaglia M
Clin Genet; 2023 Feb; 103(2):156-166. PubMed ID: 36224108
[TBL] [Abstract][Full Text] [Related]
13. A 29 Mainland Chinese cohort of patients with Phelan-McDermid syndrome: genotype-phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes.
Xu N; Lv H; Yang T; Du X; Sun Y; Xiao B; Fan Y; Luo X; Zhan Y; Wang L; Li F; Yu Y
Orphanet J Rare Dis; 2020 Nov; 15(1):335. PubMed ID: 33256793
[TBL] [Abstract][Full Text] [Related]
14. Deficiency of
Nagai M; Iemura K; Kikkawa T; Naher S; Hattori S; Hagihara H; Nagata KI; Anzawa H; Kugisaki R; Wanibuchi H; Abe T; Inoue K; Kinoshita K; Miyakawa T; Osumi N; Tanaka K
Brain Commun; 2022; 4(5):fcac220. PubMed ID: 36106092
[No Abstract] [Full Text] [Related]
15. Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.
Mattioli F; Schaefer E; Magee A; Mark P; Mancini GM; Dieterich K; Von Allmen G; Alders M; Coutton C; van Slegtenhorst M; Vieville G; Engelen M; Cobben JM; Juusola J; Pujol A; Mandel JL; Piton A
Am J Hum Genet; 2017 Jan; 100(1):105-116. PubMed ID: 27939639
[TBL] [Abstract][Full Text] [Related]
16. De novo mutations in HNRNPU result in a neurodevelopmental syndrome.
Yates TM; Vasudevan PC; Chandler KE; Donnelly DE; Stark Z; Sadedin S; Willoughby J; ; ; Balasubramanian M
Am J Med Genet A; 2017 Nov; 173(11):3003-3012. PubMed ID: 28944577
[TBL] [Abstract][Full Text] [Related]
17. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Radio FC; Pang K; Ciolfi A; Levy MA; Hernández-García A; Pedace L; Pantaleoni F; Liu Z; de Boer E; Jackson A; Bruselles A; McConkey H; Stellacci E; Lo Cicero S; Motta M; Carrozzo R; Dentici ML; McWalter K; Desai M; Monaghan KG; Telegrafi A; Philippe C; Vitobello A; Au M; Grand K; Sanchez-Lara PA; Baez J; Lindstrom K; Kulch P; Sebastian J; Madan-Khetarpal S; Roadhouse C; MacKenzie JJ; Monteleone B; Saunders CJ; Jean Cuevas JK; Cross L; Zhou D; Hartley T; Sawyer SL; Monteiro FP; Secches TV; Kok F; Schultz-Rogers LE; Macke EL; Morava E; Klee EW; Kemppainen J; Iascone M; Selicorni A; Tenconi R; Amor DJ; Pais L; Gallacher L; Turnpenny PD; Stals K; Ellard S; Cabet S; Lesca G; Pascal J; Steindl K; Ravid S; Weiss K; Castle AMR; Carter MT; Kalsner L; de Vries BBA; van Bon BW; Wevers MR; Pfundt R; Stegmann APA; Kerr B; Kingston HM; Chandler KE; Sheehan W; Elias AF; Shinde DN; Towne MC; Robin NH; Goodloe D; Vanderver A; Sherbini O; Bluske K; Hagelstrom RT; Zanus C; Faletra F; Musante L; Kurtz-Nelson EC; Earl RK; Anderlid BM; Morin G; van Slegtenhorst M; Diderich KEM; Brooks AS; Gribnau J; Boers RG; Finestra TR; Carter LB; Rauch A; Gasparini P; Boycott KM; Barakat TS; Graham JM; Faivre L; Banka S; Wang T; Eichler EE; Priolo M; Dallapiccola B; Vissers LELM; Sadikovic B; Scott DA; Holder JL; Tartaglia M
Am J Hum Genet; 2021 Mar; 108(3):502-516. PubMed ID: 33596411
[TBL] [Abstract][Full Text] [Related]
18. JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.
Verberne EA; Goh S; England J; van Ginkel M; Rafael-Croes L; Maas S; Polstra A; Zarate YA; Bosanko KA; Pechter KB; Bedoukian E; Izumi K; Chaudhry A; Robin NH; Boothe M; Lippa NC; Aggarwal V; De Vivo DC; Lehman A; Study C; Stockler S; Bruel AL; Isidor B; Lemons J; Rodriguez-Buritica DF; Richmond CM; Stark Z; Agrawal PB; Kooy RF; Meuwissen MEC; Koolen DA; Pfundt R; Lieden A; Anderlid BM; Glatz D; Mannens MMAM; Bakshi M; Mallette FA; van Haelst MM; Campeau PM
Genet Med; 2021 Feb; 23(2):374-383. PubMed ID: 33077894
[TBL] [Abstract][Full Text] [Related]
19. Cytogenetic and molecular characterization of a patient having infertility and mild intellectual disability with a very rare unstable ring chromosome 13.
Kaya M; Suer I; Kalayci T; Karaman B; Ozturk S; Palanduz S
Scott Med J; 2022 Nov; 67(4):173-177. PubMed ID: 35862016
[TBL] [Abstract][Full Text] [Related]
20. Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.
Barøy T; Misceo D; Strømme P; Stray-Pedersen A; Holmgren A; Rødningen OK; Blomhoff A; Helle JR; Stormyr A; Tvedt B; Fannemel M; Frengen E
Orphanet J Rare Dis; 2013 Jan; 8():3. PubMed ID: 23294540
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
