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

Year Number of Results
1991 2
1993 2
1994 3
1995 8
1996 18
1997 22
1998 19
1999 27
2000 14
2001 30
2002 26
2003 27
2004 26
2005 30
2006 43
2007 35
2008 30
2009 32
2010 35
2011 45
2012 50
2013 35
2014 48
2015 54
2016 44
2017 51
2018 46
2019 47
2020 21
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779 results
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Page 1
Immune and Genetic Features of the Chromosome 22q11.2 Deletion (DiGeorge Syndrome).
Kuo CY, Signer R, Saitta SC. Kuo CY, et al. Curr Allergy Asthma Rep. 2018 Oct 30;18(12):75. doi: 10.1007/s11882-018-0823-5. Curr Allergy Asthma Rep. 2018. PMID: 30377837 Review.
The recent addition of a TREC assay to newborn screening can identify a subset of infants whose severe immune defects may result from 22q11 deletion. ...DiGeorge syndrome reflects a clinical phenotype now recognized by its underlying genetic diagnosis, chromosome …
The recent addition of a TREC assay to newborn screening can identify a subset of infants whose severe immune defects may result from 22q
Distal deletion at 22q11.2 as differential diagnosis in Craniofacial Microsomia: Case report and literature review.
Spineli-Silva S, Bispo LM, Gil-da-Silva-Lopes VL, Vieira TP. Spineli-Silva S, et al. Eur J Med Genet. 2018 May;61(5):262-268. doi: 10.1016/j.ejmg.2017.12.013. Epub 2017 Dec 27. Eur J Med Genet. 2018. PMID: 29288792 Free article. Review.
This is the sixth case of distal 22q11.2 deletion resembling CFM and the second encompassing the region between LCRs D to E. ...This case corroborates the phenotypic similarity between 22q11.2 distal deletion and CFM/OAVS. It also contributes to genoty …
This is the sixth case of distal 22q11.2 deletion resembling CFM and the second encompassing the region between LCRs D to E. . …
Deletion of 22q11 chromosome is associated with postoperative morbidity after unifocalisation surgery.
Koth A, Sidell D, Bauser-Heaton H, Wise-Faberowski L, Hanley FL, McElhinney DB, Asija R. Koth A, et al. Cardiol Young. 2019 Jan;29(1):19-22. doi: 10.1017/S1047951118001427. Epub 2018 Aug 30. Cardiol Young. 2019. PMID: 30160647
BACKGROUND: A 22q11 chromosome deletion is common in patients with tetralogy of Fallot, pulmonary atresia, and major aortopulmonary collaterals. ...We compared outcomes between those with 22q11 chromosome deletion and those without using non-parametric …
BACKGROUND: A 22q11 chromosome deletion is common in patients with tetralogy of Fallot, pulmonary atresia, and major aortopulm …
Noninvasive screening by cell-free DNA for 22q11.2 deletion: Benefits, limitations, and challenges.
Grati FR, Gross SJ. Grati FR, et al. Prenat Diagn. 2019 Jan;39(2):70-80. doi: 10.1002/pd.5391. Epub 2019 Jan 10. Prenat Diagn. 2019. PMID: 30625249 Review.
Additional chromosome targets beyond common aneuploidies, including the 22q11.2 microdeletion, are now available because of this clinical testing technology. While there are numerous potential benefits, 22q11.2 microdeletion screening using cfDNA testing also presen …
Additional chromosome targets beyond common aneuploidies, including the 22q11.2 microdeletion, are now available because of this clin …
Atypical microdeletion in 22q11 deletion syndrome reveals new candidate causative genes: A case report and literature review.
Shi H, Wang Z. Shi H, et al. Medicine (Baltimore). 2018 Feb;97(8):e9936. doi: 10.1097/MD.0000000000009936. Medicine (Baltimore). 2018. PMID: 29465581 Free PMC article. Review.
RATIONALE: 22q11 deletion syndrome, the most common chromosomal microdeletion disease, is caused by megabase-sized deletions on chromosome 22q11.2. ...DIAGNOSES: Microarray analysis revealed a 22q11.23 deletion of 125 kb (chromosome 22: 24276973 …
RATIONALE: 22q11 deletion syndrome, the most common chromosomal microdeletion disease, is caused by megabase-sized deletions o …
22q11 deletion syndrome: current perspective.
Hacıhamdioğlu B, Hacıhamdioğlu D, Delil K. Hacıhamdioğlu B, et al. Appl Clin Genet. 2015 May 18;8:123-32. doi: 10.2147/TACG.S82105. eCollection 2015. Appl Clin Genet. 2015. PMID: 26056486 Free PMC article. Review.
The misalignment of low-copy repeats during nonallelic homologous recombination leads to the deletion of the 22q11.2 region, which results in 22q11 deletion syndrome (22q11DS). The 22q11.2 deletion is associated with a wide variety of phe …
The misalignment of low-copy repeats during nonallelic homologous recombination leads to the deletion of the 22q11.2 region, w …
Mitochondrial Function in 22q11 Deletion Syndrome.
Warren EB, Morrow EM. Warren EB, et al. Neuron. 2019 Jun 19;102(6):1089-1091. doi: 10.1016/j.neuron.2019.05.052. Neuron. 2019. PMID: 31220439 Free article.
In this issue of Neuron, Fernandez et al. (2019) identify haploinsufficiency of mitochondrial Txnrd2 as an important contributor to the hypo-cortico-cortical connectivity of 22q11 deletion syndrome....
In this issue of Neuron, Fernandez et al. (2019) identify haploinsufficiency of mitochondrial Txnrd2 as an important contributor to the hypo …
Growth characteristics and endocrine abnormalities in 22q11.2 deletion syndrome.
Levy-Shraga Y, Gothelf D, Goichberg Z, Katz U, Somech R, Pinhas-Hamiel O, Modan-Moses D. Levy-Shraga Y, et al. Am J Med Genet A. 2017 May;173(5):1301-1308. doi: 10.1002/ajmg.a.38175. Epub 2017 Feb 16. Am J Med Genet A. 2017. PMID: 28421700
22q11.2 deletion syndrome (22q11.2DS) has a wide range of clinical features including endocrine abnormalities. We aimed to characterize growth patterns, hypoparathyroidism, and thyroid dysfunction of individuals with 22q11.2DS. ...In conclusions, indiv
22q11.2 deletion syndrome (22q11.2DS) has a wide range of clinical features including endocrine abnormalities. We aimed
Delineation of a recognizable phenotype for the recurrent LCR22-C to D/E atypical 22q11.2 deletion.
Bengoa-Alonso A, Artigas-López M, Moreno-Igoa M, Cattalli C, Hernández-Charro B, Ramos-Arroyo MA. Bengoa-Alonso A, et al. Am J Med Genet A. 2016 Jun;170(6):1485-94. doi: 10.1002/ajmg.a.37614. Epub 2016 Mar 17. Am J Med Genet A. 2016. PMID: 26991864 Review.
The 22q11.2 deletion syndrome is typically caused by haploinsufficiency of a 3 Mb region that extends from LCR22-A until LCR22-D, while the recurrent recombination between any of the LCR22-D to H causes the 22q11.2 distal deletion syndrome. Here, we de …
The 22q11.2 deletion syndrome is typically caused by haploinsufficiency of a 3 Mb region that extends from LCR22-A until LCR22 …
Platelet parameters in children with chromosome 22q11 deletion and conotruncal heart defects.
Anilkumar A, Vasudevan DM, Kappanayil M, Sundaram KR, Krishna Kumar R, Nampoothiri S. Anilkumar A, et al. Congenit Heart Dis. 2018 May;13(3):483-487. doi: 10.1111/chd.12600. Epub 2018 Mar 5. Congenit Heart Dis. 2018. PMID: 29508558
BACKGROUND AND OBJECTIVES: The 22q11 deletion syndrome is associated with a wide spectrum of phenotypic features, hence clinical diagnosis is difficult. ...Our aim was to elucidate whether chromosome 22q11 deletion in children with syndromic conotrunca …
BACKGROUND AND OBJECTIVES: The 22q11 deletion syndrome is associated with a wide spectrum of phenotypic features, hence clinic …
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