These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
135 related articles for article (PubMed ID: 28407396)
1. A further family of Stromme syndrome carrying CENPF mutation. Ozkinay F; Atik T; Isik E; Gormez Z; Sagiroglu M; Sahin OA; Corduk N; Onay H Am J Med Genet A; 2017 Jun; 173(6):1668-1672. PubMed ID: 28407396 [TBL] [Abstract][Full Text] [Related]
2. Expanding the phenotype and the genotype of Stromme syndrome: A novel variant of the CENPF gene and literature review. Alghamdi M; Alkhamis WH; Bashiri FA; Jamjoom D; Al-Nafisah G; Tahir A; Abdouelhoda M Eur J Med Genet; 2020 May; 63(5):103844. PubMed ID: 31953238 [TBL] [Abstract][Full Text] [Related]
3. Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF. Filges I; Bruder E; Brandal K; Meier S; Undlien DE; Waage TR; Hoesli I; Schubach M; de Beer T; Sheng Y; Hoeller S; Schulzke S; Røsby O; Miny P; Tercanli S; Oppedal T; Meyer P; Selmer KK; Strømme P Hum Mutat; 2016 Apr; 37(4):359-63. PubMed ID: 26820108 [TBL] [Abstract][Full Text] [Related]
4. CUGC for Stromme syndrome and CENPF-related disorders. Filges I; Stromme P Eur J Hum Genet; 2020 Jan; 28(1):132-136. PubMed ID: 31488893 [TBL] [Abstract][Full Text] [Related]
5. Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome. Cappuccio G; Brillante S; Tammaro R; Pinelli M; De Bernardi ML; Gensini MG; Bijlsma EK; Koopmann TT; Hoffer MJV; McDonald K; Hendon LG; Douzgou S; Deshpande C; D'Arrigo S; Torella A; Nigro V; Franco B; Brunetti-Pierri N Am J Med Genet C Semin Med Genet; 2022 Mar; 190(1):102-108. PubMed ID: 35488810 [TBL] [Abstract][Full Text] [Related]
6. Novel Loss of Function Variants in Misceo D; Senaratne LDS; Mero IL; Sundaram AYM; Bjørnstad PM; Szczałuba K; Gasperowicz P; Kamien B; Nedregaard B; Holmgren A; Strømme P; Frengen E Genes (Basel); 2023 Oct; 14(11):. PubMed ID: 38002928 [TBL] [Abstract][Full Text] [Related]
7. The first case report of Strømme syndrome in a Chinese patient: Expanding the phenotype and literature review. Ho S; Luk HM; Lo IFM Am J Med Genet A; 2022 May; 188(5):1626-1629. PubMed ID: 35001526 [TBL] [Abstract][Full Text] [Related]
8. Jejunal atresia and anterior chamber anomalies: Further delineation of the Strømme syndrome. Castori M; Laino L; Briganti V; Pedace L; Zampini A; Marconi M; Grammatico B; Buffone E; Grammatico P Eur J Med Genet; 2010; 53(3):149-52. PubMed ID: 20219704 [TBL] [Abstract][Full Text] [Related]
9. Further evidence for a syndrome of "apple peel" intestinal atresia, ocular anomalies and microcephaly. Slee J; Goldblatt J Clin Genet; 1996 Oct; 50(4):260-2. PubMed ID: 9001813 [TBL] [Abstract][Full Text] [Related]
10. The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes. Waters AM; Asfahani R; Carroll P; Bicknell L; Lescai F; Bright A; Chanudet E; Brooks A; Christou-Savina S; Osman G; Walsh P; Bacchelli C; Chapgier A; Vernay B; Bader DM; Deshpande C; O' Sullivan M; Ocaka L; Stanescu H; Stewart HS; Hildebrandt F; Otto E; Johnson CA; Szymanska K; Katsanis N; Davis E; Kleta R; Hubank M; Doxsey S; Jackson A; Stupka E; Winey M; Beales PL J Med Genet; 2015 Mar; 52(3):147-56. PubMed ID: 25564561 [TBL] [Abstract][Full Text] [Related]
12. Exclusion of a PAX6, FOXC1, PITX2, and MYCN mutation in another patient with apple peel intestinal atresia, ocular anomalies and microcephaly and review of the literature. van Bever Y; van Hest L; Wolfs R; Tibboel D; van den Hoonaard TL; Gischler SJ Am J Med Genet A; 2008 Feb; 146A(4):500-4. PubMed ID: 18203155 [TBL] [Abstract][Full Text] [Related]
13. Miro-dependent mitochondrial pool of CENP-F and its farnesylated C-terminal domain are dispensable for normal development in mice. Peterka M; Kornmann B PLoS Genet; 2019 Mar; 15(3):e1008050. PubMed ID: 30856164 [TBL] [Abstract][Full Text] [Related]
14. A novel homozygous splice-site variant of NCAPD2 gene identified in two siblings with primary microcephaly: The second case report. Lin Y; Zeng C; Lu Z; Lin R; Liu L Clin Genet; 2019 Jul; 96(1):98-101. PubMed ID: 31056748 [TBL] [Abstract][Full Text] [Related]
15. "Apple-peel" intestinal atresia, ocular anomalies, and microcephaly syndrome: brain magnetic resonance imaging study. Bellini C; Mazzella M; Arioni C; Fondelli MP; Serra G Am J Med Genet; 2002 Jun; 110(2):176-8. PubMed ID: 12116257 [TBL] [Abstract][Full Text] [Related]
16. Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal. Keegan CE; Vilain E; Mohammed M; Lehoczky J; Dobyns WB; Archer SM; Innis JW Am J Med Genet A; 2004 Mar; 125A(3):293-8. PubMed ID: 14994240 [TBL] [Abstract][Full Text] [Related]
17. Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails. Kariminejad A; Ajeawung NF; Bozorgmehr B; Dionne-Laporte A; Molidperee S; Najafi K; Gibbs RA; Lee BH; Hennekam RC; Campeau PM J Hum Genet; 2017 Apr; 62(4):465-471. PubMed ID: 28003643 [TBL] [Abstract][Full Text] [Related]
18. Apple peel intestinal atresia in siblings with ocular anomalies and microcephaly. Strømme P; Dahl E; Flage T; Stene-Johansen H Clin Genet; 1993 Oct; 44(4):208-10. PubMed ID: 8261651 [TBL] [Abstract][Full Text] [Related]
19. Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome. Flex E; Ciolfi A; Caputo V; Fodale V; Leoni C; Melis D; Bedeschi MF; Mazzanti L; Pizzuti A; Tartaglia M; Zampino G J Med Genet; 2013 Aug; 50(8):493-9. PubMed ID: 23687348 [TBL] [Abstract][Full Text] [Related]