Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Results by year

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

Year Number of Results
1992 1
2002 1
2008 2
2009 2
2010 5
2011 4
2012 3
2013 3
2014 2
2015 2
2017 7
2018 3
2019 3
2020 4
2021 8
2022 2
Text availability
Article attribute
Article type
Publication date

Search Results

44 results
Results by year
Filters applied: . Clear all
Page 1
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?
Lopergolo D, Privitera F, Castello G, Lo Rizzo C, Mencarelli MA, Pinto AM, Ariani F, Currò A, Lamacchia V, Canitano R, Vaghi E, Ferrarini A, Baltodano GM, Lederer D, Van Maldergem L, Serrano M, Pineda M, Fons-Estupina MDC, Van Esch H, Breckpot J, Kumps C, Callewaert B, Mueller S, Ramelli GP, Armstrong J, Renieri A, Mari F. Lopergolo D, et al. Among authors: kumps c. Clin Genet. 2021 Mar;99(3):462-474. doi: 10.1111/cge.13908. Epub 2021 Jan 9. Clin Genet. 2021. PMID: 33368194
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.
Li D, March ME, Fortugno P, Cox LL, Matsuoka LS, Monetta R, Seiler C, Pyle LC, Bedoukian EC, Sánchez-Soler MJ, Caluseriu O, Grand K, Tam A, Aycinena ARP, Camerota L, Guo Y, Sleiman P, Callewaert B, Kumps C, Dheedene A, Buckley M, Kirk EP, Turner A, Kamien B, Patel C, Wilson M, Roscioli T, Christodoulou J, Cox TC, Zackai EH, Brancati F, Hakonarson H, Bhoj EJ. Li D, et al. Among authors: kumps c. Hum Genet. 2021 Jul;140(7):1061-1076. doi: 10.1007/s00439-021-02274-3. Epub 2021 Apr 3. Hum Genet. 2021. PMID: 33811546
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
Velmans C, O'Donnell-Luria AH, Argilli E, Tran Mau-Them F, Vitobello A, Chan MC, Fung JL, Rech M, Abicht A, Aubert Mucca M, Carmichael J, Chassaing N, Clark R, Coubes C, Denommé-Pichon AS, de Dios JK, England E, Funalot B, Gerard M, Joseph M, Kennedy C, Kumps C, Willems M, van de Laar IMBH, Aarts-Tesselaar C, van Slegtenhorst M, Lehalle D, Leppig K, Lessmeier L, Pais LS, Paterson H, Ramanathan S, Rodan LH, Superti-Furga A, Chung BHY, Sherr E, Netzer C, Schaaf CP, Erger F. Velmans C, et al. Among authors: kumps c. J Med Genet. 2021 Jul 28:jmedgenet-2020-107470. doi: 10.1136/jmedgenet-2020-107470. Online ahead of print. J Med Genet. 2021. PMID: 34321323
ALK positively regulates MYCN activity through repression of HBP1 expression.
Claeys S, Denecker G, Durinck K, Decaesteker B, Mus LM, Loontiens S, Vanhauwaert S, Althoff K, Wigerup C, Bexell D, Dolman E, Henrich KO, Wehrmann L, Westerhout EM, Demoulin JB, Kumps C, Van Maerken T, Laureys G, Van Neste C, De Wilde B, De Wever O, Westermann F, Versteeg R, Molenaar JJ, Påhlman S, Schulte JH, De Preter K, Speleman F. Claeys S, et al. Among authors: kumps c. Oncogene. 2019 Apr;38(15):2690-2705. doi: 10.1038/s41388-018-0595-3. Epub 2018 Dec 11. Oncogene. 2019. PMID: 30538293
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.
Royer-Bertrand B, Jequier Gygax M, Cisarova K, Rosenfeld JA, Bassetti JA, Moldovan O, O'Heir E, Burrage LC, Allen J, Emrick LT, Eastman E, Kumps C, Abbas S, Van Winckel G; Undiagnosed Diseases Network, Chabane N, Zackai EH, Lebon S, Keena B, Bhoj EJ, Umair M, Li D, Donald KA, Superti-Furga A. Royer-Bertrand B, et al. Among authors: kumps c. Mol Autism. 2021 Oct 26;12(1):69. doi: 10.1186/s13229-021-00473-3. Mol Autism. 2021. PMID: 34702355 Free PMC article.
Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene.
Atallah I, Quinodoz M, Campos-Xavier B, Peter VG, Fouriki A, Bonvin C, Bottani A, Kumps C, Angelini F, Bellutti Enders F, Christen-Zaech S, Rizzi M, Renella R, Beck-Popovic M, Poloni C, Frossard V, Blouin JL, Rivolta C, Riccio O, Candotti F, Hofer M, Unger S, Superti-Furga A. Atallah I, et al. Among authors: kumps c. Clin Genet. 2021 Jun;99(6):780-788. doi: 10.1111/cge.13942. Epub 2021 Feb 21. Clin Genet. 2021. PMID: 33586135
44 results