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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1991 2
1993 4
1998 1
1999 2
2000 3
2001 1
2002 1
2003 3
2004 3
2005 1
2006 1
2007 2
2008 3
2009 4
2010 5
2011 3
2012 4
2013 6
2014 4
2015 8
2016 7
2017 2
2018 10
2019 5
2020 7
2021 6
2022 2
2023 3
2024 0

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90 results

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Page 1
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. Among authors: gambello mj. 2016 Sep 22 [updated 2021 Jul 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2016 Sep 22 [updated 2021 Jul 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 27656750 Free Books & Documents. Review.
Duarte Variant Galactosemia.
Fridovich-Keil JL, Gambello MJ, Singh RH, Sharer JD. Fridovich-Keil JL, et al. Among authors: gambello mj. 2014 Dec 4 [updated 2020 Jun 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2014 Dec 4 [updated 2020 Jun 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 25473725 Free Books & Documents. Review.
Genetics in the twenty-first century. Preface.
Gambello MJ, Sutton VR. Gambello MJ, et al. Clin Perinatol. 2015 Jun;42(2):xxi-xxii. doi: 10.1016/j.clp.2015.04.001. Clin Perinatol. 2015. PMID: 26042915 No abstract available.
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. Among authors: gambello mj. 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
Musculoskeletal phenotypes in 3q29 deletion syndrome.
Pollak RM, Tilmon JC, Murphy MM, Gambello MJ, Russo RS, Dormans JP, Mulle JG. Pollak RM, et al. Among authors: gambello mj. medRxiv [Preprint]. 2023 Apr 3:2023.04.03.23288084. doi: 10.1101/2023.04.03.23288084. medRxiv. 2023. PMID: 37066183 Free PMC article. Updated. Preprint.
Murine modelling of classical lissencephaly.
Gambello MJ, Hirotsune S, Wynshaw-Boris A. Gambello MJ, et al. Neurogenetics. 1999 Apr;2(2):77-86. doi: 10.1007/s100480050056. Neurogenetics. 1999. PMID: 10369882 Review.
Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy.
Perrier S, Gauquelin L, Tétreault M, Tran LT, Webb N, Srour M, Mitchell JJ, Brunel-Guitton C, Majewski J, Long V, Keller S, Gambello MJ, Simons C; Care4Rare Canada Consortium; Vanderver A, Bernard G. Perrier S, et al. Among authors: gambello mj. Clin Genet. 2018 Feb;93(2):396-400. doi: 10.1111/cge.13126. Epub 2017 Dec 21. Clin Genet. 2018. PMID: 28857146
Advances and Future Directions for Tuberous Sclerosis Complex Research: Recommendations From the 2015 Strategic Planning Conference.
Sahin M, Henske EP, Manning BD, Ess KC, Bissler JJ, Klann E, Kwiatkowski DJ, Roberds SL, Silva AJ, Hillaire-Clarke CS, Young LR, Zervas M, Mamounas LA; Tuberous Sclerosis Complex Working Group to Update the Research Plan. Sahin M, et al. Pediatr Neurol. 2016 Jul;60:1-12. doi: 10.1016/j.pediatrneurol.2016.03.015. Epub 2016 Apr 2. Pediatr Neurol. 2016. PMID: 27267556 Free PMC article.
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. Among authors: gambello mj. 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.
90 results