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3q29 Recurrent Deletion.
Mulle JG, Gambello MJ, Sanchez Russo R, Murphy MM, Burrell TL, Klaiman C, White S, Saulnier CA, Walker EF, Cubells JF, Shultz S, Li L. Mulle JG, et al. 2016 Sep 22 [updated 2021 Jul 1]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2016 Sep 22 [updated 2021 Jul 1]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 27656750 Free Books & Documents. Review.
GENETIC COUNSELING: 3q29 recurrent deletion is an autosomal dominant disorder typically caused by a de novo deletion. ...Each child of an individual with the 3q29 recurrent deletion has a 50% chance of inheriting the deletion. Once the …
GENETIC COUNSELING: 3q29 recurrent deletion is an autosomal dominant disorder typically caused by a de novo deletion. . …
Response to Treatment in 3q29 Deletion Syndrome-Associated Psychosis: A Mini-Review.
Colijn MA. Colijn MA. Neuropsychobiology. 2023;82(5):263-270. doi: 10.1159/000531747. Epub 2023 Aug 22. Neuropsychobiology. 2023. PMID: 37607488 Free article. Review.
3q29 deletion syndrome is characterized by various developmental abnormalities, medical issues, and neuropsychiatric symptoms, including psychosis. ...Treatment response did not clearly differ according to developmental history. 3q29 deletion syndrome …
3q29 deletion syndrome is characterized by various developmental abnormalities, medical issues, and neuropsychiatric symptoms, …
Musculoskeletal phenotypes in 3q29 deletion syndrome.
Pollak RM, Tilmon JC, Murphy MM, Gambello MJ, Sanchez Russo R, Dormans JP, Mulle JG. Pollak RM, et al. Am J Med Genet A. 2023 Nov;191(11):2749-2756. doi: 10.1002/ajmg.a.63384. Epub 2023 Sep 10. Am J Med Genet A. 2023. PMID: 37691301 Free PMC article.
3q29 deletion syndrome (3q29del) is a rare genomic disorder caused by a 1.6 Mb deletion (hg19, chr3:195725000-197350000). 3q29del is associated with neurodevelopmental and psychiatric phenotypes, including an astonishing >40-fold increased risk for schizop …
3q29 deletion syndrome (3q29del) is a rare genomic disorder caused by a 1.6 Mb deletion (hg19, chr3:195725000-197350000 …
Musculoskeletal phenotypes in 3q29 deletion syndrome.
Pollak RM, Tilmon JC, Murphy MM, Gambello MJ, Russo RS, Dormans JP, Mulle JG. Pollak RM, et al. medRxiv [Preprint]. 2023 Apr 3:2023.04.03.23288084. doi: 10.1101/2023.04.03.23288084. medRxiv. 2023. Update in: Am J Med Genet A. 2023 Nov;191(11):2749-2756. doi: 10.1002/ajmg.a.63384. PMID: 37066183 Free PMC article. Updated. Preprint.
3q29 deletion syndrome (3q29del) is a rare genomic disorder caused by a 1.6 Mb deletion (hg19, chr3:195725000a "197350000). 3q29del is associated with neurodevelopmental and psychiatric phenotypes, including an astonishing >40-fold increased risk for schiz …
3q29 deletion syndrome (3q29del) is a rare genomic disorder caused by a 1.6 Mb deletion (hg19, chr3:195725000a "1973500 …
Metabolic effects of the schizophrenia-associated 3q29 deletion.
Pollak RM, Purcell RH, Rutkowski TP, Malone T, Pachura KJ, Bassell GJ, Epstein MP, Dawson PA, Smith MR, Jones DP, Zwick ME, Warren ST, Caspary T, Weinshenker D, Mulle JG. Pollak RM, et al. Transl Psychiatry. 2022 Feb 17;12(1):66. doi: 10.1038/s41398-022-01824-1. Transl Psychiatry. 2022. PMID: 35177588 Free PMC article.
The 1.6 Mb 3q29 deletion is associated with developmental and psychiatric phenotypes, including a 40-fold increased risk for schizophrenia. ...Untargeted metabolomics of liver tissue showed a strong sex-dependent effect of the 3q29 deletion on fat meta …
The 1.6 Mb 3q29 deletion is associated with developmental and psychiatric phenotypes, including a 40-fold increased risk for s …
Cross-species analysis identifies mitochondrial dysregulation as a functional consequence of the schizophrenia-associated 3q29 deletion.
Purcell RH, Sefik E, Werner E, King AT, Mosley TJ, Merritt-Garza ME, Chopra P, McEachin ZT, Karne S, Raj N, Vaglio BJ, Sullivan D, Firestein BL, Tilahun K, Robinette MI, Warren ST, Wen Z, Faundez V, Sloan SA, Bassell GJ, Mulle JG. Purcell RH, et al. Sci Adv. 2023 Aug 18;9(33):eadh0558. doi: 10.1126/sciadv.adh0558. Epub 2023 Aug 16. Sci Adv. 2023. PMID: 37585521 Free PMC article.
The 1.6-megabase deletion at chromosome 3q29 (3q29Del) is the strongest identified genetic risk factor for schizophrenia, but the effects of this variant on neurodevelopment are not well understood. ...These molecular signatures were supported by analysis of oxidati …
The 1.6-megabase deletion at chromosome 3q29 (3q29Del) is the strongest identified genetic risk factor for schizophrenia, but …
Visual-Motor Integration Deficits in 3q29 Deletion Syndrome.
Pollak RM, Burrell TL, Cubells JF, Klaiman C, Murphy MM, Saulnier CA, Walker EF, White SP, Mulle JG. Pollak RM, et al. J Autism Dev Disord. 2024 Aug;54(8):3142-3154. doi: 10.1007/s10803-023-06034-2. Epub 2023 Jun 24. J Autism Dev Disord. 2024. PMID: 37354284 Free PMC article.
3q29 deletion syndrome (3q29del) is associated with neuropsychiatric and neurodevelopmental phenotypes. ...Compared to published data from individuals with 22q11.2 deletion syndrome, individuals with 3q29del showed significantly more impairment. The 3q29 …
3q29 deletion syndrome (3q29del) is associated with neuropsychiatric and neurodevelopmental phenotypes. ...Compared to publish …
Prenatal manifestations of 3q29 deletion: A potential relationship with enlarged nuchal translucency.
Liu X, Wang J, Hu R, Zhang Z, Liao N, Xiao L, Guo J, Liu S, Hu T. Liu X, et al. Eur J Obstet Gynecol Reprod Biol. 2025 May;309:61-64. doi: 10.1016/j.ejogrb.2025.03.016. Epub 2025 Mar 15. Eur J Obstet Gynecol Reprod Biol. 2025. PMID: 40107175
BACKGROUND: The 3q29 deletion syndrome is characterized by neurodevelopmental and/or psychiatric manifestations after birth. ...CONCLUSION: The 3q29 deletion was enriched in fetuses with enlarged NT. Enlarged NT was the most specific prenatal presentat …
BACKGROUND: The 3q29 deletion syndrome is characterized by neurodevelopmental and/or psychiatric manifestations after birth. . …
A distinct cognitive profile in individuals with 3q29 deletion syndrome.
Klaiman C, White SP, Saulnier C, Murphy M, Burrell L, Cubells J, Walker E; Emory 3q29 Project; Mulle JG. Klaiman C, et al. J Intellect Disabil Res. 2023 Mar;67(3):216-227. doi: 10.1111/jir.12919. Epub 2022 Mar 16. J Intellect Disabil Res. 2023. PMID: 35297118
BACKGROUND: 3q29 deletion syndrome is associated with mild to moderate intellectual disability as well as comorbid psychopathology such as ADHD, anxiety, ASD and schizophrenia. ...A second goal was to ask whether the cognitive impact of the deletion predicted …
BACKGROUND: 3q29 deletion syndrome is associated with mild to moderate intellectual disability as well as comorbid psychopatho …
142 results