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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, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2016 Sep 22 [updated 2021 Jul 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 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 schizo …
3q29 deletion syndrome (3q29del) is a rare genomic disorder caused by a 1.6 Mb deletion (hg19, chr3:195725000a"19735000 …
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 …
Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care.
Sanchez Russo R, Gambello MJ, Murphy MM, Aberizk K, Black E, Burrell TL, Carlock G, Cubells JF, Epstein MT, Espana R, Goines K, Guest RM, Klaiman C, Koh S, Leslie EJ, Li L, Novacek DM, Saulnier CA, Sefik E, Shultz S, Walker E, White SP; Emory 3q29 Project; Mulle JG. Sanchez Russo R, et al. Genet Med. 2021 May;23(5):872-880. doi: 10.1038/s41436-020-01053-1. Epub 2021 Feb 9. Genet Med. 2021. PMID: 33564151 Free PMC article.
METHODS: Thirty-two individuals with the 3q29 deletion were evaluated using a defined phenotyping protocol and standardized data collection instruments. ...Evidence-based recommendations for evaluation, referral, and management are provided to help guide clinicians …
METHODS: Thirty-two individuals with the 3q29 deletion were evaluated using a defined phenotyping protocol and standardized da …
Novel features of 3q29 deletion syndrome: Results from the 3q29 registry.
Glassford MR, Rosenfeld JA, Freedman AA, Zwick ME, Mulle JG; Unique Rare Chromosome Disorder Support Group. Glassford MR, et al. Am J Med Genet A. 2016 Apr;170A(4):999-1006. doi: 10.1002/ajmg.a.37537. Epub 2016 Jan 6. Am J Med Genet A. 2016. PMID: 26738761 Free PMC article.
3q29 deletion syndrome is caused by a recurrent, typically de novo heterozygous 1.6 Mb deletion, but because incidence of the deletion is rare (1 in 30,000 births) the phenotype is not well described. ...This is the most comprehensive description of th …
3q29 deletion syndrome is caused by a recurrent, typically de novo heterozygous 1.6 Mb deletion, but because incidence …
Mitochondrial Retinopathies.
Zeviani M, Carelli V. Zeviani M, et al. Int J Mol Sci. 2021 Dec 25;23(1):210. doi: 10.3390/ijms23010210. Int J Mol Sci. 2021. PMID: 35008635 Free PMC article. Review.
The main genetic abnormalities of mtDNA include mutations associated with neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) sometimes with earlier onset and increased severity (maternally inherited Leigh syndrome, MILS), single large-scale deletions determ …
The main genetic abnormalities of mtDNA include mutations associated with neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) …
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 …
141 results

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