PubMed (Bookshelf cited) for id: 482768

Year	Number of Results
1998	1
2001	1
2005	1
2006	1
2007	4
2008	2
2009	4
2010	6
2011	8
2012	10
2013	7
2014	10
2015	11
2016	7
2017	5
2018	8
2019	17
2020	13
2021	2
2024	0

1

Practice Parameter for the Assessment and Treatment of Psychiatric Disorders in Children and Adolescents With Intellectual Disability (Intellectual Developmental Disorder).

Siegel M, McGuire K, Veenstra-VanderWeele J, Stratigos K, King B; American Academy of Child and Adolescent Psychiatry (AACAP) Committee on Quality Issues (CQI); Bellonci C, Hayek M, Keable H, Rockhill C, Bukstein OG, Walter HJ. Siegel M, et al. J Am Acad Child Adolesc Psychiatry. 2020 Apr;59(4):468-496. doi: 10.1016/j.jaac.2019.11.018. Epub 2019 Nov 29. J Am Acad Child Adolesc Psychiatry. 2020. PMID: 33928910

2

Simplifying Detection of Copy-Number Variations in Maturity-Onset Diabetes of the Young.

Berberich AJ, Wang J, Cao H, McIntyre AD, Spaic T, Miller DB, Stock S, Huot C, Stein R, Knoll J, Yang P, Robinson JF, Hegele RA. Berberich AJ, et al. Can J Diabetes. 2021 Feb;45(1):71-77. doi: 10.1016/j.jcjd.2020.06.001. Epub 2020 Jun 8. Can J Diabetes. 2021. PMID: 33011132

3

EARLY ONSET OF MODY5 DUE TO HAPLOINSUFFICIENCY OF HNF1B.

Bustamante C, Sanchez J, Seeherunvong T, Ukarapong S. Bustamante C, et al. AACE Clin Case Rep. 2020 Jun 23;6(5):e243-e246. doi: 10.4158/ACCR-2020-0161. eCollection 2020 Sep-Oct. AACE Clin Case Rep. 2020. PMID: 32984530 Free PMC article.

4

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. Smajlagić D, et al. Eur J Hum Genet. 2021 Jan;29(1):205-215. doi: 10.1038/s41431-020-00707-7. Epub 2020 Aug 10. Eur J Hum Genet. 2021. PMID: 32778765 Free PMC article.

5

Genotype and Phenotype Analyses in Pediatric Patients with HNF1B Mutations.

Lim SH, Kim JH, Han KH, Ahn YH, Kang HG, Ha IS, Cheong HI. Lim SH, et al. J Clin Med. 2020 Jul 21;9(7):2320. doi: 10.3390/jcm9072320. J Clin Med. 2020. PMID: 32708349 Free PMC article.

6

Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population.

Martin CL, Wain KE, Oetjens MT, Tolwinski K, Palen E, Hare-Harris A, Habegger L, Maxwell EK, Reid JG, Walsh LK, Myers SM, Ledbetter DH. Martin CL, et al. JAMA Psychiatry. 2020 Dec 1;77(12):1276-1285. doi: 10.1001/jamapsychiatry.2020.2159. JAMA Psychiatry. 2020. PMID: 32697297 Free PMC article.

7

Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease - A Rare Case Concerning PMM2 Gene Pleiotropy.

Soares AR, Figueiredo CM, Quelhas D, Silva ES, Freitas J, Oliveira MJ, Faria S, Fortuna AM, Borges T. Soares AR, et al. Eur Endocrinol. 2020 Apr;16(1):66-68. doi: 10.17925/EE.2020.16.1.66. Epub 2020 Feb 4. Eur Endocrinol. 2020. PMID: 32595772 Free PMC article.

8

Hypomagnesemia is underestimated in children with HNF1B mutations.

Kołbuc M, Leßmeier L, Salamon-Słowińska D, Małecka I, Pawlaczyk K, Walkowiak J, Wysocki J, Beck BB, Zaniew M. Kołbuc M, et al. Pediatr Nephrol. 2020 Oct;35(10):1877-1886. doi: 10.1007/s00467-020-04576-6. Epub 2020 May 10. Pediatr Nephrol. 2020. PMID: 32388583

9

Copy number variations associated with fetal congenital kidney malformations.

Cai M, Lin N, Su L, Wu X, Xie X, Li Y, Chen X, Lin Y, Huang H, Xu L. Cai M, et al. Mol Cytogenet. 2020 Mar 24;13:11. doi: 10.1186/s13039-020-00481-7. eCollection 2020. Mol Cytogenet. 2020. PMID: 32211073 Free PMC article.

10

A rare combination of MODY5 and duodenal atresia in a patient: a case report.

Du T, Zeng N, Wen X, Zhu P, Li W. Du T, et al. BMC Med Genet. 2020 Feb 6;21(1):24. doi: 10.1186/s12881-020-0954-0. BMC Med Genet. 2020. PMID: 32028929 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

92 results

Results by year