PubMed for id: 482768

Year	Number of Results
1986	1
1990	1
1993	2
1994	2
1995	3
1997	2
1998	1
1999	2
2000	3
2002	1
2005	1
2006	1
2007	2
2008	1
2009	2
2010	3
2011	3
2012	4
2013	4
2014	4
2015	3
2016	1
2017	1
2018	6
2019	6
2020	1
2021	4
2022	5
2023	8
2024	1

1

Accurate diagnosis and heterogeneity analysis of a 17q12 deletion syndrome family with adulthood diabetes onset and complex clinical phenotypes.

Wu HX, Li L, Zhang H, Tang J, Zhang MB, Tang HN, Guo Y, Zhou ZG, Zhou HD. Wu HX, et al. Endocrine. 2021 Jul;73(1):37-46. doi: 10.1007/s12020-021-02682-5. Epub 2021 Mar 20. Endocrine. 2021. PMID: 33745123

2

Case Report: Diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome with diabetic gastroparesis.

Xin S, Zhang X. Xin S, et al. Front Endocrinol (Lausanne). 2023 Nov 14;14:1205431. doi: 10.3389/fendo.2023.1205431. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 38033996 Free PMC article.

3

Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.

Verscaj CP, Velez-Bartolomei F, Bodle E, Chan K, Lyons MJ, Thorson W, Tan WH, Rodig N, Graham JM Jr, Peron A, Quintero-Rivera F, Zackai EH, Thomas MA, Stevens CA, Adam MP, Bird LM, Jones MC, Matalon DR. Verscaj CP, et al. Prenat Diagn. 2024 Feb;44(2):237-246. doi: 10.1002/pd.6424. Epub 2023 Aug 26. Prenat Diagn. 2024. PMID: 37632214 Review.

4

[Clinical and genetic analysis of a fetus with 17q12 microdeletion syndrome].

Lyu Y, Lin M, Shao J. Lyu Y, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Jun 10;40(6):737-743. doi: 10.3760/cma.j.cn511374-20220828-00583. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 37212013 Chinese.

5

Identification of 17q12 microdeletion syndrome in a Latin American patient with maturity-onset diabetes of the young subtype 5: a case report.

Guzmán GE, Madariaga I, Vargas CJ, Galeano LB, Guerra MA, Nastasi JA. Guzmán GE, et al. J Med Case Rep. 2023 Apr 5;17(1):152. doi: 10.1186/s13256-023-03873-6. J Med Case Rep. 2023. PMID: 37016461 Free PMC article.

6

Concomitance of 47,XXY, a balanced reciprocal translocation of t(4;17)(q12;q11.2) encompassing SPINK2 at 4q12 and NOS at 17q11.2 and an AZFa sY86 deletion in an infertile male.

Wu FT, Chen CP, Chen SW, Chern SR, Chen PT, Chiu CL, Lee CC, Chen WL, Wang W. Wu FT, et al. Taiwan J Obstet Gynecol. 2023 Mar;62(2):336-342. doi: 10.1016/j.tjog.2022.11.014. Taiwan J Obstet Gynecol. 2023. PMID: 36965905 Free article. Review.

7

A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype-phenotype correlation.

Zunova H, Stolfa M, Kunikova T, Novotna D, Valkovicova R, Štěrbová K, Vlckova M. Zunova H, et al. Am J Med Genet A. 2023 Mar;191(3):870-877. doi: 10.1002/ajmg.a.63085. Epub 2022 Dec 22. Am J Med Genet A. 2023. PMID: 36548033

8

Potter Deformation Sequence Caused by 17q12 Deletion: A Lethal Constellation.

Molina LM, Salgado CM, Reyes-Múgica M. Molina LM, et al. Pediatr Dev Pathol. 2023 Mar-Apr;26(2):144-148. doi: 10.1177/10935266221139341. Epub 2022 Dec 13. Pediatr Dev Pathol. 2023. PMID: 36513606

9

Recurrent 17q12 microduplications contribute to renal disease but not diabetes.

Cannon S, Clissold R, Sukcharoen K, Tuke M, Hawkes G, Beaumont RN, Wood AR, Gilchrist M, Hattersley AT, Oram RA, Patel K, Wright C, Weedon MN. Cannon S, et al. J Med Genet. 2023 May;60(5):491-497. doi: 10.1136/jmg-2022-108615. Epub 2022 Sep 15. J Med Genet. 2023. PMID: 36109160 Free PMC article.

10

A case of familial recurrent 17q12 microdeletion syndrome presenting with severe diabetic ketoacidosis.

Aydın C, Kıral E, Susam E, Tufan AK, Yarar C, Çetin N, Kocagil S, Kırel B. Aydın C, et al. Turk J Pediatr. 2022;64(3):558-565. doi: 10.24953/turkjped.2021.1613. Turk J Pediatr. 2022. PMID: 35899569 Free article.

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