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

Year Number of Results
1898 1
1911 1
1912 1
1919 2
1954 1
1961 2
1962 2
1963 2
1964 5
1965 2
1966 3
1967 4
1968 4
1969 4
1971 9
1972 4
1973 3
1974 4
1975 2
1977 4
1978 5
1979 7
1980 5
1981 3
1982 3
1983 3
1984 7
1985 3
1986 8
1987 5
1988 3
1989 3
1990 3
1991 8
1992 3
1993 4
1994 12
1995 6
1996 6
1997 7
1998 14
1999 7
2000 5
2001 5
2002 5
2003 5
2004 2
2005 4
2006 2
2007 1
2008 3
2009 2
2010 1
2011 3
2012 4
2013 4
2014 3
2015 1
2016 3
2017 6
2018 8
2019 13
2020 17
2021 11
2022 13
2023 18
2024 21
2025 20

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343 results

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Page 1
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.
Fliedner A, Kirchner P, Wiesener A, van de Beek I, Waisfisz Q, van Haelst M, Scott DA, Lalani SR, Rosenfeld JA, Azamian MS, Xia F, Dutra-Clarke M, Martinez-Agosto JA, Lee H; UCLA Clinical Genomics Center; Noh GJ, Lippa N, Alkelai A, Aggarwal V, Agre KE, Gavrilova R, Mirzaa GM, Straussberg R, Cohen R, Horist B, Krishnamurthy V, McWalter K, Juusola J, Davis-Keppen L, Ohden L, van Slegtenhorst M, de Man SA, Ekici AB, Gregor A, van de Laar I, Zweier C. Fliedner A, et al. Among authors: gregor a. Am J Hum Genet. 2020 Sep 3;107(3):544-554. doi: 10.1016/j.ajhg.2020.06.019. Epub 2020 Jul 29. Am J Hum Genet. 2020. PMID: 32730804 Free PMC article.
What Should Be the Topics of a Prospective Study on Ovarian Masses in Children?-Results of a Multicenter Retrospective Study and a Scoping Literature Review.
Łuczak J, Bagłaj M, Dryjański P, Kalcowska A, Banaszyk-Pucała N, Boczar M, Dymek K, Fryczek M, Giżewska-Kacprzak K, Górecki W, Grabowski A, Gregor A, Jabłońska M, Kowalewski G, Lewandowska M, Małowiecka M, Ogorzałek A, Pękalska M, Piotrowska-Gall A, Porębski M, Siewiński M, Patkowski D. Łuczak J, et al. Among authors: gregor a. Curr Oncol. 2022 Feb 28;29(3):1488-1500. doi: 10.3390/curroncol29030125. Curr Oncol. 2022. PMID: 35323325 Free PMC article.
LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.
Schmid CM, Gregor A, Costain G, Morel CF, Massingham L, Schwab J, Quélin C, Faoucher M, Kaplan J, Procopio R, Saunders CJ, Cohen ASA, Lemire G, Sacharow S, O'Donnell-Luria A, Segal RJ, Kianmahd Shamshoni J, Schweitzer D, Ebrahimi-Fakhari D, Monaghan K, Palculict TB, Napier MP, Tao A, Isidor B, Moradkhani K, Reis A, Sticht H; Care4Rare Canada; Chung WK, Zweier C. Schmid CM, et al. Among authors: gregor a. Genet Med. 2023 Jul;25(7):100839. doi: 10.1016/j.gim.2023.100839. Epub 2023 Apr 11. Genet Med. 2023. PMID: 37057675 Free article.
De novo missense variants in FBXO11 alter its protein expression and subcellular localization.
Gregor A, Meerbrei T, Gerstner T, Toutain A, Lynch SA, Stals K, Maxton C, Lemke JR, Bernat JA, Bombei HM, Foulds N, Hunt D, Kuechler A, Beygo J, Stöbe P, Bouman A, Palomares-Bralo M, Santos-Simarro F, Garcia-Minaur S, Pacio-Miguez M, Popp B, Vasileiou G, Hebebrand M, Reis A, Schuhmann S, Krumbiegel M, Brown NJ, Sparber P, Melikyan L, Bessonova L, Cherevatova T, Sharkov A, Shcherbakova N, Dabir T, Kini U, Schwaibold EMC, Haack TB, Bertoli M, Hoffjan S, Falb R, Shinawi M, Sticht H, Zweier C. Gregor A, et al. Hum Mol Genet. 2022 Feb 3;31(3):440-454. doi: 10.1093/hmg/ddab265. Hum Mol Genet. 2022. PMID: 34505148 Free PMC article.
Further delineation of the SCAF4-associated neurodevelopmental disorder.
Schmid CM, Gregor A, Ruiz A, Manso Bazús C, Herman I, Ammouri F, Kotzaeridou U, McNiven V, Dupuis L, Steindl K, Begemann A, Rauch A, Suter AA, Isidor B, Mercier S, Nizon M, Cogné B, Deb W, Besnard T, Haack TB, Falb RJ, Müller AJ, Linden T, Haldeman-Englert CR, Ockeloen CW, Mattioli F, Reymond A, Ibrahim N, Naz S, Lacaze E, Bassetti JA, Hoefele J, Brunet T, Riedhammer KM, Elloumi HZ, Person R, Zou F, Kahle JJ, Cremer K, Schmidt A, Delrue MA, Almeida PM, Ramos F, Srivastava S, Quinlan A, Robertson S, Manka E, Kuechler A, Spranger S, Nowaczyk MJM, Elshafie RM, Alsharhan H, Hillman PR, Dunnington LA, Braakman HMH, McKee S, Moresco A, Ignat AD, Newbury-Ecob R, Banneau G, Patat O, Kuerbitz J, Rzucidlo S, Sell SS, Gordon P, Schuhmann S, Reis A, Halleb Y, Stoeva R, Keren B, Al Masseri Z, Tümer Z, Hammer-Hansen S, Krüger Sølyst S, Steigerwald CG, Abreu NJ, Faust H, Müller-Nedebock A, Tran Mau-Them F, Sticht H, Zweier C. Schmid CM, et al. Among authors: gregor a. Eur J Hum Genet. 2025 May;33(5):588-594. doi: 10.1038/s41431-024-01760-2. Epub 2024 Dec 12. Eur J Hum Genet. 2025. PMID: 39668183 Free PMC article.
A proposal for an updated staging system for LCHADD retinopathy.
Wongchaisuwat N, Gillingham MB, Yang P, Everett L, Gregor A, Harding CO, Sahel JA, Nischal KK, Scanga HL, Black D, Vockley J, Arnold G, Pennesi ME. Wongchaisuwat N, et al. Among authors: gregor a. Ophthalmic Genet. 2024 Apr;45(2):140-146. doi: 10.1080/13816810.2024.2303682. Epub 2024 Jan 30. Ophthalmic Genet. 2024. PMID: 38288966 Free PMC article.
Bronchoscopic navigation and tissue diagnosis.
Ishiwata T, Gregor A, Inage T, Yasufuku K. Ishiwata T, et al. Among authors: gregor a. Gen Thorac Cardiovasc Surg. 2020 Jul;68(7):672-678. doi: 10.1007/s11748-019-01241-0. Epub 2019 Nov 4. Gen Thorac Cardiovasc Surg. 2020. PMID: 31686295 Review.
343 results