Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
2017 1
2019 1
2020 1
2021 1
2023 1
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

5 results

Results by year

Filters applied: . Clear all
Page 1
Clinical characterization of individuals with the distal 1q21.1 microdeletion.
Edwards SD, Schulze KV, Rosenfeld JA, Westerfield LE, Gerard A, Yuan B, Grigorenko EL, Posey JE, Bi W, Liu P. Edwards SD, et al. Am J Med Genet A. 2021 May;185(5):1388-1398. doi: 10.1002/ajmg.a.62104. Epub 2021 Feb 11. Am J Med Genet A. 2021. PMID: 33576134
Future studies may help to elucidate the underlying molecular mechanisms impacting the phenotypic variability observed with this microdeletion....
Future studies may help to elucidate the underlying molecular mechanisms impacting the phenotypic variability observed with this micr …
Beyond the Global Brain Differences: Intraindividual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2 Deletion Carriers.
Boen R, Kaufmann T, van der Meer D, Frei O, Agartz I, Ames D, Andersson M, Armstrong NJ, Artiges E, Atkins JR, Bauer J, Benedetti F, Boomsma DI, Brodaty H, Brosch K, Buckner RL, Cairns MJ, Calhoun V, Caspers S, Cichon S, Corvin AP, Crespo-Facorro B, Dannlowski U, David FS, de Geus EJC, de Zubicaray GI, Desrivières S, Doherty JL, Donohoe G, Ehrlich S, Eising E, Espeseth T, Fisher SE, Forstner AJ, Fortaner-Uyà L, Frouin V, Fukunaga M, Ge T, Glahn DC, Goltermann J, Grabe HJ, Green MJ, Groenewold NA, Grotegerd D, Grøntvedt GR, Hahn T, Hashimoto R, Hehir-Kwa JY, Henskens FA, Holmes AJ, Håberg AK, Haavik J, Jacquemont S, Jansen A, Jockwitz C, Jönsson EG, Kikuchi M, Kircher T, Kumar K, Le Hellard S, Leu C, Linden DE, Liu J, Loughnan R, Mather KA, McMahon KL, McRae AF, Medland SE, Meinert S, Moreau CA, Morris DW, Mowry BJ, Mühleisen TW, Nenadić I, Nöthen MM, Nyberg L, Ophoff RA, Owen MJ, Pantelis C, Paolini M, Paus T, Pausova Z, Persson K, Quidé Y, Marques TR, Sachdev PS, Sando SB, Schall U, Scott RJ, Selbæk G, Shumskaya E, Silva AI, Sisodiya SM, Stein F, Stein DJ, Straube B, Streit F, Strike LT, Teumer A, Teutenberg L, Thalamuthu A, Tooney PA, Tordesillas-Gutierrez D, Trollor JN, van 't … See abstract for full author list ➔ Boen R, et al. Biol Psychiatry. 2024 Jan 15;95(2):147-160. doi: 10.1016/j.biopsych.2023.08.018. Epub 2023 Sep 3. Biol Psychiatry. 2024. PMID: 37661008 Free PMC article.
METHODS: Magnetic resonance imaging data were used to obtain regional brain values for 1q21.1 distal deletion (n = 30) and duplication (n = 27) and 15q11.2 BP1-BP2 deletion (n = 170) and duplication (n = 243) carriers and matched noncarriers (n = 2350). Regional intra-deviation …
METHODS: Magnetic resonance imaging data were used to obtain regional brain values for 1q21.1 distal deletion (n = 30) and duplication (n = …
Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series.
Busè M, Cuttaia HC, Palazzo D, Mazara MV, Lauricella SA, Malacarne M, Pierluigi M, Cavani S, Piccione M. Busè M, et al. Ital J Pediatr. 2017 Jul 19;43(1):61. doi: 10.1186/s13052-017-0380-x. Ital J Pediatr. 2017. PMID: 28724436 Free PMC article.
RESULTS: Our data confirm the extreme phenotypic variability associated with 1q21.1 microdeletion and microduplication. We observed common phenotypic features, described in previous studies, but we also described, for the first time, congenital hypothyroidism in associatio …
RESULTS: Our data confirm the extreme phenotypic variability associated with 1q21.1 microdeletion and microduplication. We observed c …
An eight-case 1q21 region series: novel aberrations and clinical variability with new features.
Ceylan AC, Sahin I, Erdem HB, Kayhan G, Simsek-Kiper PO, Utine GE, Percin F, Boduroglu K, Alikasifoglu M. Ceylan AC, et al. J Intellect Disabil Res. 2019 Jun;63(6):548-557. doi: 10.1111/jir.12592. Epub 2019 Feb 18. J Intellect Disabil Res. 2019. PMID: 30773728
The findings in case 7 suggest that the proximal part of the 1q21 microdeletion syndrome region might be very important for the onset of clinical manifestations. Some novel findings were observed in the presented cases, such as radius and humerus hypoplasia and brain stem …
The findings in case 7 suggest that the proximal part of the 1q21 microdeletion syndrome region might be very important for the onset of cli …
Discordance of cardiovascular abnormalities in a monozygotic twin pair carrying a class II 1q21.1 microdeletion.
Shi SS, Lin SB, Cai DL, Wen WR, Li RM. Shi SS, et al. Taiwan J Obstet Gynecol. 2020 Jan;59(1):123-126. doi: 10.1016/j.tjog.2019.11.019. Taiwan J Obstet Gynecol. 2020. PMID: 32039779 Free article.
No other rare copy number variants (CNVs) were identified, and concordance was observed in the CNVs between the twins. CONCLUSION: Discordant cardiovascular abnormalities may occur in MZ twins carrying the same class II 1q21.1 microdeletion. ...
No other rare copy number variants (CNVs) were identified, and concordance was observed in the CNVs between the twins. CONCLUSION: Di …