119 related articles for article (PubMed ID: 38421086)
1. 3q29 duplications: A cohort of 46 patients and a literature review.
Massier M; Doco-Fenzy M; Egloff M; Le Guillou X; Le Guyader G; Redon S; Benech C; Le Millier K; Uguen K; Ropars J; Sacaze E; Audebert-Bellanger S; Apetrei A; Molin A; Gruchy N; Vincent-Devulder A; Spodenkiewicz M; Jacquin C; Loron G; Thibaud M; Delplancq G; Brisset S; Lesieur-Sebellin M; Malan V; Romana S; Rio M; Marlin S; Amiel J; Marquet V; Dauriat B; Moradkhani K; Mercier S; Isidor B; Arpin S; Pujalte M; Jedraszak G; Pebrel-Richard C; Salaun G; Laffargue F; Boudjarane J; Missirian C; Chelloug N; Toutain A; Chiesa J; Keren B; Mignot C; Gouy E; Jaillard S; Landais E; Poirsier C
Am J Med Genet A; 2024 Feb; ():e63531. PubMed ID: 38421086
[TBL] [Abstract][Full Text] [Related]
2. 3q29 microduplication syndrome: Clinical and molecular description of eleven new cases.
Coyan AG; Dyer LM
Eur J Med Genet; 2020 Dec; 63(12):104083. PubMed ID: 33039685
[TBL] [Abstract][Full Text] [Related]
3. Familial inheritance of the 3q29 microdeletion syndrome: case report and review.
Khan WA; Cohen N; Scott SA; Pereira EM
BMC Med Genomics; 2019 Mar; 12(1):51. PubMed ID: 30885185
[TBL] [Abstract][Full Text] [Related]
4. 3q29 microduplication syndrome: New evidence for the refinement of the critical region.
Bauleo A; Pace V; Montesanto A; De Stefano L; Brando R; Puntorieri D; Cento L; Genuardi M; Falcone E
Mol Genet Genomic Med; 2023 Apr; 11(4):e2130. PubMed ID: 36691815
[TBL] [Abstract][Full Text] [Related]
5. Overlapping pathogenic de novo CNVs in neurodevelopmental disorders and congenital anomalies impacting constraint genes regulating early development.
Safizadeh Shabestari SA; Nassir N; Sopariwala S; Karimov I; Tambi R; Zehra B; Kosaji N; Akter H; Berdiev BK; Uddin M
Hum Genet; 2023 Aug; 142(8):1201-1213. PubMed ID: 36383254
[TBL] [Abstract][Full Text] [Related]
6. A cohort study of neurodevelopmental disorders and/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD.
Chaves TF; Ocampos M; Barbato IT; de Camargo Pinto LL; de Luca GR; Barbato Filho JH; Bernardi P; Costa Netto Muniz Y; Francesca Maris A
Sci Rep; 2024 Feb; 14(1):3762. PubMed ID: 38355898
[TBL] [Abstract][Full Text] [Related]
7. Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting.
Goobie S; Knijnenburg J; Fitzpatrick D; Sharkey FH; Lionel AC; Marshall CR; Azam T; Shago M; Chong K; Mendoza-Londono R; den Hollander NS; Ruivenkamp C; Maher E; Tanke HJ; Szuhai K; Wintle RF; Scherer SW
Cytogenet Genome Res; 2008; 123(1-4):65-78. PubMed ID: 19287140
[TBL] [Abstract][Full Text] [Related]
8. Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.
Battaglia A; Doccini V; Bernardini L; Novelli A; Loddo S; Capalbo A; Filippi T; Carey JC
Eur J Paediatr Neurol; 2013 Nov; 17(6):589-99. PubMed ID: 23711909
[TBL] [Abstract][Full Text] [Related]
9. High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing.
Yilmaz F; Gurusamy U; Mosley TJ; Hallast P; Kim K; Mostovoy Y; Purcell RH; Shaikh TH; Zwick ME; Kwok PY; Lee C; Mulle JG
Genome Med; 2023 May; 15(1):35. PubMed ID: 37165454
[TBL] [Abstract][Full Text] [Related]
10. Novel features of 3q29 deletion syndrome: Results from the 3q29 registry.
Glassford MR; Rosenfeld JA; Freedman AA; Zwick ME; Mulle JG;
Am J Med Genet A; 2016 Apr; 170A(4):999-1006. PubMed ID: 26738761
[TBL] [Abstract][Full Text] [Related]
11. Detection of copy number variants and genes by chromosomal microarray in an Emirati neurodevelopmental disorders cohort.
Nassir N; Sati I; Al Shaibani S; Ahmed A; Almidani O; Akter H; Woodbury-Smith M; Tayoun AA; Uddin M; Albanna A
Neurogenetics; 2022 Apr; 23(2):137-149. PubMed ID: 35325322
[TBL] [Abstract][Full Text] [Related]
12. Comprehensive phenotyping of neuropsychiatric traits in a multiplex 3q29 deletion family: a case report.
Murphy MM; Burrell TL; Cubells JF; Epstein MT; Espana R; Gambello MJ; Goines K; Klaiman C; Koh S; Russo RS; Saulnier CA; Walker E; ; Mulle JG
BMC Psychiatry; 2020 Apr; 20(1):184. PubMed ID: 32321479
[TBL] [Abstract][Full Text] [Related]
13. Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication.
Ballif BC; Theisen A; Coppinger J; Gowans GC; Hersh JH; Madan-Khetarpal S; Schmidt KR; Tervo R; Escobar LF; Friedrich CA; McDonald M; Campbell L; Ming JE; Zackai EH; Bejjani BA; Shaffer LG
Mol Cytogenet; 2008 Apr; 1():8. PubMed ID: 18471269
[TBL] [Abstract][Full Text] [Related]
14. Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review.
Bourgois A; Bizaoui V; Colson C; Vincent-Devulder A; Molin A; Gérard M; Gruchy N
Am J Med Genet A; 2024 Mar; 194(3):e63457. PubMed ID: 37881147
[TBL] [Abstract][Full Text] [Related]
15. Construction of copy number variation landscape and characterization of associated genes in a Bangladeshi cohort of neurodevelopmental disorders.
Akter H; Rahman MM; Sarker S; Basiruzzaman M; Islam MM; Rahaman MA; Rahaman MA; Eshaque TB; Dity NJ; Sarker S; Amin MR; Hossain MM; Lopa M; Jahan N; Hossain S; Islam A; Mondol A; Faruk MO; Saha N; Kundu GK; Kanta SI; Kazal RK; Fatema K; Rahman MA; Hasan M; Hossain Mollah MA; Hosen MI; Karuvantevida N; Begum G; Zehra B; Nassir N; Nabi AHMN; Uddin KMF; Uddin M
Front Genet; 2023; 14():955631. PubMed ID: 36959829
[No Abstract] [Full Text] [Related]
16. Study protocol for The Emory 3q29 Project: evaluation of neurodevelopmental, psychiatric, and medical symptoms in 3q29 deletion syndrome.
Murphy MM; Lindsey Burrell T; Cubells JF; España RA; Gambello MJ; Goines KCB; Klaiman C; Li L; Novacek DM; Papetti A; Sanchez Russo RL; Saulnier CA; Shultz S; Walker E; Mulle JG
BMC Psychiatry; 2018 Jun; 18(1):183. PubMed ID: 29884173
[TBL] [Abstract][Full Text] [Related]
17. Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications.
Levinson DF; Duan J; Oh S; Wang K; Sanders AR; Shi J; Zhang N; Mowry BJ; Olincy A; Amin F; Cloninger CR; Silverman JM; Buccola NG; Byerley WF; Black DW; Kendler KS; Freedman R; Dudbridge F; Pe'er I; Hakonarson H; Bergen SE; Fanous AH; Holmans PA; Gejman PV
Am J Psychiatry; 2011 Mar; 168(3):302-16. PubMed ID: 21285140
[TBL] [Abstract][Full Text] [Related]
18. Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents.
Smajlagić D; Lavrichenko K; Berland S; Helgeland Ø; Knudsen GP; Vaudel M; Haavik J; Knappskog PM; Njølstad PR; Houge G; Johansson S
Eur J Hum Genet; 2021 Jan; 29(1):205-215. PubMed ID: 32778765
[TBL] [Abstract][Full Text] [Related]
19. Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: case report and review.
Quintero-Rivera F; Sharifi-Hannauer P; Martinez-Agosto JA
Am J Med Genet A; 2010 Oct; 152A(10):2459-67. PubMed ID: 20830797
[TBL] [Abstract][Full Text] [Related]
20. 3q29 microduplication syndrome: Description of two new cases and delineation of the minimal critical region.
Tassano E; Uccella S; Giacomini T; Severino M; Siri L; Gherzi M; Celle ME; Porta S; Gimelli G; Ronchetto P
Eur J Med Genet; 2018 Aug; 61(8):428-433. PubMed ID: 29501613
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
