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 Custom Filters

Results by year

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

Year Number of Results
1980 1
1991 1
1992 1
1993 1
1998 4
2000 2
2002 3
2003 2
2004 2
2005 7
2006 9
2007 11
2008 9
2009 17
2010 30
2011 24
2012 35
2013 45
2014 33
2015 39
2016 44
2017 37
2018 54
2019 74
2020 69
2021 81
2022 78
2023 71
2024 56

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

728 results

Results by year

Filters applied: . Clear all
Page 1
Adult Phenotype of SYNGAP1-DEE.
Rong M, Benke T, Zulfiqar Ali Q, Aledo-Serrano Á, Bayat A, Rossi A, Devinsky O, Qaiser F, Ali AS, Fasano A, Bassett AS, Andrade DM. Rong M, et al. Neurol Genet. 2023 Nov 17;9(6):e200105. doi: 10.1212/NXG.0000000000200105. eCollection 2023 Dec. Neurol Genet. 2023. PMID: 38045990 Free PMC article.
METHODS: Patients 18 years or older with DEE carrying likely pathogenic and pathogenic (LP/P) SYNGAP1 variants were recruited through physicians' practices and patient organization groups. ...RESULTS: Fourteen unrelated adult patients (median: 21 years, range: 18-65 years) …
METHODS: Patients 18 years or older with DEE carrying likely pathogenic and pathogenic (LP/P) SYNGAP1 variants were recruited through …
Anti-human neutrophil antigen-1d specificity is frequently observed in anti-human neutrophil antigen-1b alloantisera.
Grabowski C, Reil A, Bux J, Bayat B, Sachs UJ. Grabowski C, et al. Transfusion. 2022 Nov;62(11):2205-2211. doi: 10.1111/trf.17118. Epub 2022 Sep 29. Transfusion. 2022. PMID: 36173690
RESULTS: Three amino acids, p.36S, p.78A, and p.82N, are involved in epitope formation of HNA-1b. The following specificities were identified in 11 HNA-1b alloantisera: p.36S (6/11), p.82N (9/11), and p.78A&p.82N (8/11), of whi …
RESULTS: Three amino acids, p.36S, p.78A, and p.82N, are involved in epitope formation of HNA-1b. The following specifi …
PRICKLE2 revisited-further evidence implicating PRICKLE2 in neurodevelopmental disorders.
Bayat A, Iqbal S, Borredy K, Amiel J, Zweier C, Barcia G, Kraus C, Weyhreter H, Bassuk AG, Chopra M, Rubboli G, Møller RS. Bayat A, et al. Eur J Hum Genet. 2021 Aug;29(8):1235-1244. doi: 10.1038/s41431-021-00912-y. Epub 2021 Jun 7. Eur J Hum Genet. 2021. PMID: 34092786 Free PMC article.
We identified two missense variants (c.122 C > T; p.(Pro41Leu), c.680 C > G; p.(Thr227Arg)), one nonsense variant (c.214 C > T; p.(Arg72*) and one frameshift variant (c.1286_1287delGT; p.(Ser429Thrfs*56)). While the p.(Ser429Thrfs*56) v …
We identified two missense variants (c.122 C > T; p.(Pro41Leu), c.680 C > G; p.(Thr227Arg)), one nonsense variant (c.214 …
Unraveling GRIA1 neurodevelopmental disorders: Lessons learned from the p.(Ala636Thr) variant.
Tvergaard NK, Tkemaladze T, Stödberg T, Kvarnung M, Tatton-Brown K, Baralle D, Tümer Z, Bayat A. Tvergaard NK, et al. Clin Genet. 2024 Oct;106(4):427-436. doi: 10.1111/cge.14577. Epub 2024 Jun 18. Clin Genet. 2024. PMID: 38890806
We deep-phenotyped a cohort comprising eight unrelated children and adults, harboring a recurrent and well-established disease-causing GRIA1 variant (NM_001114183.1: c.1906G>A, p.(Ala636Thr)). Recurrent symptoms included motor and/or language delay, mild-severe intellec …
We deep-phenotyped a cohort comprising eight unrelated children and adults, harboring a recurrent and well-established disease-causing GRIA1 …
ERS International Congress 2021: highlights from the Respiratory Clinical Care and Physiology Assembly.
Gille T, Sivapalan P, Kaltsakas G, Kolekar SB, Armstrong M, Tuffnell R, Evans RA, Vagheggini G, Degani-Costa LH, Vicente C, Das N, Poberezhets V, Rolland-Debord C, Bayat S, Vogiatzis I, Franssen FME, Pinnock H, Vanfleteren LEGW. Gille T, et al. ERJ Open Res. 2022 May 23;8(2):00710-2021. doi: 10.1183/23120541.00710-2021. eCollection 2022 Apr. ERJ Open Res. 2022. PMID: 35615417 Free PMC article. Review.
Adult Phenotype of CHD2-Associated Disorders.
Rong M, Zulfiqar Ali Q, Aledo-Serrano A, Bayat A, Devinsky O, Qaiser F, Chandran I, Ali A, Fasano A, Bassett AS, Andrade DM. Rong M, et al. Neurol Genet. 2024 Nov 25;10(6):e200194. doi: 10.1212/NXG.0000000000200194. eCollection 2024 Dec. Neurol Genet. 2024. PMID: 39601014 Free PMC article.
RESULTS: In this prospective study, 14 unrelated adult patients (age range: 18-45 years, median: 21 years) with LP/P CHD2 variants were described. Eleven novel variants were identified. No genotype-phenotype correlations were identified. 79% of adults still have ongoing se …
RESULTS: In this prospective study, 14 unrelated adult patients (age range: 18-45 years, median: 21 years) with LP/P CHD2 variants we …
Bile effects on the Pseudomonas aeruginosa pathogenesis in cystic fibrosis patients with gastroesophageal reflux.
Bayat M, Nahand JS, Farsad-Akhatr N, Memar MY. Bayat M, et al. Heliyon. 2023 Nov 10;9(11):e22111. doi: 10.1016/j.heliyon.2023.e22111. eCollection 2023 Nov. Heliyon. 2023. PMID: 38034726 Free PMC article. Review.
Aspirated bile is associated with the severity of lung diseases and chronic inflammation caused by Pseudomonas aeruginosa as the most common pathogen of CF respiratory tract infections. P. aeruginosa is equipped with several mechanisms to facilitate the infection process, …
Aspirated bile is associated with the severity of lung diseases and chronic inflammation caused by Pseudomonas aeruginosa as the most common …
Self-inflicted injury and the older trauma patient: a 20 year review of suicide attempts and outcomes.
Schaffer KB, Dandan T, Bayat D, Castelo MR, Reames SH, Hutkin-Slade L, Biffl WL. Schaffer KB, et al. Eur Geriatr Med. 2022 Feb;13(1):119-125. doi: 10.1007/s41999-021-00561-w. Epub 2021 Sep 20. Eur Geriatr Med. 2022. PMID: 34542844 Free PMC article. Review.
Cohorts by age were compared: Older (65 +) vs Younger (< 65). Values considered significant at p 0.05. RESULTS: 557 suicide attempts were identified with 9% among Older patients. ...Differences were evident between male and female Older patients with ISS 16.7 vs 5, p …
Cohorts by age were compared: Older (65 +) vs Younger (< 65). Values considered significant at p 0.05. RESULTS: 557 suicide attemp …
International consensus on lung function testing during the COVID-19 pandemic and beyond.
McGowan A, Laveneziana P, Bayat S, Beydon N, Boros PW, Burgos F, Fležar M, Franczuk M, Galarza MA, Kendrick AH, Lombardi E, Makonga-Braaksma J, McCormack MC, Plantier L, Stanojevic S, Steenbruggen I, Thompson B, Coates AL, Wanger J, Cockcroft DW, Culver B, Sylvester K, De Jongh F. McGowan A, et al. ERJ Open Res. 2022 Mar 7;8(1):00602-2021. doi: 10.1183/23120541.00602-2021. eCollection 2022 Jan. ERJ Open Res. 2022. PMID: 35261912 Free PMC article. Review.
728 results