120 related articles for article (PubMed ID: 38385826)
1. Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndrome.
Cogliati F; Straniero L; Rimoldi V; Masciadri M; Perego S; Rinaldi B; Milani D; Gentilini D; Larizza L; Asselta R; Russo S; Bedeschi MF
Am J Med Genet B Neuropsychiatr Genet; 2024 Feb; ():e32976. PubMed ID: 38385826
[TBL] [Abstract][Full Text] [Related]
2. Novel Loss-of-Function Variants in
Wang X; Cui D; Ding C; Chen C; Wang X; Fang F; Jin H; Ren X
Genes (Basel); 2022 May; 13(5):. PubMed ID: 35627293
[TBL] [Abstract][Full Text] [Related]
3. Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy.
De Maria B; Balestrini S; Mei D; Melani F; Pellacani S; Pisano T; Rosati A; Scaturro GM; Giordano L; Cantalupo G; Fontana E; Zammarchi C; Said E; Leuzzi V; Mastrangelo M; Galosi S; Parrini E; Guerrini R
Am J Med Genet A; 2022 Feb; 188(2):522-533. PubMed ID: 34713950
[TBL] [Abstract][Full Text] [Related]
4. Clinical analysis of
Feng W; Fang F; Wang X; Chen C; Lu J; Deng J
Pediatr Investig; 2022 Jun; 6(2):93-99. PubMed ID: 35774528
[TBL] [Abstract][Full Text] [Related]
5. Intellectual and Behavioral Phenotypes of Smith-Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic
Linders CC; van Eeghen AM; Zinkstok JR; van den Boogaard MJ; Boot E
Genes (Basel); 2023 Jul; 14(8):. PubMed ID: 37628566
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems.
Chénier S; Yoon G; Argiropoulos B; Lauzon J; Laframboise R; Ahn JW; Ogilvie CM; Lionel AC; Marshall CR; Vaags AK; Hashemi B; Boisvert K; Mathonnet G; Tihy F; So J; Scherer SW; Lemyre E; Stavropoulos DJ
J Neurodev Disord; 2014; 6(1):9. PubMed ID: 24834135
[TBL] [Abstract][Full Text] [Related]
8. CHD2-related epilepsy: novel mutations and new phenotypes.
Chen J; Zhang J; Liu A; Zhang L; Li H; Zeng Q; Yang Z; Yang X; Wu X; Zhang Y
Dev Med Child Neurol; 2020 May; 62(5):647-653. PubMed ID: 31677157
[TBL] [Abstract][Full Text] [Related]
9. Maternal CHD7 gonosomal mosaicism in a fetus with CHARGE syndrome.
Bai T; Shen Y; Yang Y; Dai S; Liu H
Am J Med Genet A; 2024 Apr; 194(4):e63491. PubMed ID: 38057991
[TBL] [Abstract][Full Text] [Related]
10. Parental Mosaicism in
Tarilonte M; Morín M; Ramos P; Galdós M; Blanco-Kelly F; Villaverde C; Rey-Zamora D; Rebolleda G; Muñoz-Negrete FJ; Tahsin-Swafiri S; Gener B; Moreno-Pelayo MA; Ayuso C; Villamar M; Corton M
Front Genet; 2018; 9():479. PubMed ID: 30386378
[TBL] [Abstract][Full Text] [Related]
11. A Novel Variant of the
Zhu L; Peng F; Deng Z; Feng Z; Ma X
Front Genet; 2022; 13():761178. PubMed ID: 35222528
[TBL] [Abstract][Full Text] [Related]
12. Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report.
Poisson A; Chatron N; Labalme A; Fourneret P; Ville D; Mathieu ML; Sanlaville D; Demily C; Lesca G
BMC Med Genet; 2020 Jan; 21(1):10. PubMed ID: 31914951
[TBL] [Abstract][Full Text] [Related]
13. CHD2 mutations are a rare cause of generalized epilepsy with myoclonic-atonic seizures.
Trivisano M; Striano P; Sartorelli J; Giordano L; Traverso M; Accorsi P; Cappelletti S; Claps DJ; Vigevano F; Zara F; Specchio N
Epilepsy Behav; 2015 Oct; 51():53-6. PubMed ID: 26262932
[TBL] [Abstract][Full Text] [Related]
14. Gonosomal Mosaicism for a Novel
Micale L; Foiadelli T; Russo F; Cinque L; Bassanese F; Granatiero M; Fusco C; Savasta S; Castori M
Genes (Basel); 2021 Nov; 12(12):. PubMed ID: 34946877
[TBL] [Abstract][Full Text] [Related]
15. Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant.
Yeetong P; Vilboux T; Ciccone C; Boulier K; Schnur RE; Gahl WA; Huizing M; Laje G; Smith AC
Am J Med Genet A; 2016 Sep; 170(9):2383-8. PubMed ID: 27311559
[TBL] [Abstract][Full Text] [Related]
16. The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter.
Petersen AK; Streff H; Tokita M; Bostwick BL
Am J Med Genet A; 2018 Jul; 176(7):1667-1669. PubMed ID: 29740950
[TBL] [Abstract][Full Text] [Related]
17. A novel de novo frameshift variant in the CHD2 gene related to intellectual and developmental disability, seizures and speech problems.
Mir A; Song Y; Lee H; Nadeali Z; Tabatabaiefar MA
Mol Genet Genomic Med; 2024 Jan; 12(1):e2305. PubMed ID: 37877434
[TBL] [Abstract][Full Text] [Related]
18. Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities.
Mroske C; Rasmussen K; Shinde DN; Huether R; Powis Z; Lu HM; Baxter RM; McPherson E; Tang S
BMC Med Genet; 2015 Nov; 16():102. PubMed ID: 26542245
[TBL] [Abstract][Full Text] [Related]
19. Juvenile myoclonic epilepsy mimic associated with CHD2 gene mutation.
Singh N; Ritaccio A
Epilepsy Behav Rep; 2020; 13():100355. PubMed ID: 31993582
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]