182 related articles for article (PubMed ID: 25291638)
1. Pericentrin: critical for spindle orientation.
Luo Y; Pelletier L
Curr Biol; 2014 Oct; 24(19):R962-4. PubMed ID: 25291638
[TBL] [Abstract][Full Text] [Related]
2. A unique set of centrosome proteins requires pericentrin for spindle-pole localization and spindle orientation.
Chen CT; Hehnly H; Yu Q; Farkas D; Zheng G; Redick SD; Hung HF; Samtani R; Jurczyk A; Akbarian S; Wise C; Jackson A; Bober M; Guo Y; Lo C; Doxsey S
Curr Biol; 2014 Oct; 24(19):2327-2334. PubMed ID: 25220058
[TBL] [Abstract][Full Text] [Related]
3. Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria.
Waich S; Janecke AR; Parson W; Greber-Platzer S; Müller T; Huber LA; Valovka T; Vodopiutz J
Clin Genet; 2020 Sep; 98(3):282-287. PubMed ID: 32557621
[TBL] [Abstract][Full Text] [Related]
4. Schizophrenia in microcephalic osteodysplastic primordial dwarfism type II syndrome: supporting evidence for an association between the PCNT gene and schizophrenia.
Ozel F; Direk N; Ataseven Kulali M; Giray Bozkaya O; Ada E; Alptekin K
Psychiatr Genet; 2019 Apr; 29(2):57-60. PubMed ID: 30531648
[TBL] [Abstract][Full Text] [Related]
5. Hip pathology in Majewski osteodysplastic primordial dwarfism type II.
Karatas AF; Bober MB; Rogers K; Duker AL; Ditro CP; Mackenzie WG
J Pediatr Orthop; 2014 Sep; 34(6):585-90. PubMed ID: 24705347
[TBL] [Abstract][Full Text] [Related]
6. Majewski dwarfism type II: an atypical neuroradiological presentation with a novel variant in the
Alrajhi H; Alallah J; Shawli A; Alghamdi K; Hakami F
BMJ Case Rep; 2019 May; 12(5):. PubMed ID: 31151966
[TBL] [Abstract][Full Text] [Related]
7. A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II.
Liu H; Tao N; Wang Y; Yang Y; He X; Zhang Y; Zhou Y; Liu X; Feng X; Sun M; Xu F; Su Y; Li L
Mol Genet Genomic Med; 2021 Sep; 9(9):e1761. PubMed ID: 34331829
[TBL] [Abstract][Full Text] [Related]
8. Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.
Mirzaa GM; Vitre B; Carpenter G; Abramowicz I; Gleeson JG; Paciorkowski AR; Cleveland DW; Dobyns WB; O'Driscoll M
Hum Genet; 2014 Aug; 133(8):1023-39. PubMed ID: 24748105
[TBL] [Abstract][Full Text] [Related]
9. Identification of three novel mutations in PCNT in vietnamese patients with microcephalic osteodysplastic primordial dwarfism type II.
Nguyen TH; Nguyen NL; Vu CD; Ngoc CTB; Nguyen NK; Nguyen HH
Genes Genomics; 2021 Feb; 43(2):115-121. PubMed ID: 33460028
[TBL] [Abstract][Full Text] [Related]
10. Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.
Rauch A; Thiel CT; Schindler D; Wick U; Crow YJ; Ekici AB; van Essen AJ; Goecke TO; Al-Gazali L; Chrzanowska KH; Zweier C; Brunner HG; Becker K; Curry CJ; Dallapiccola B; Devriendt K; Dörfler A; Kinning E; Megarbane A; Meinecke P; Semple RK; Spranger S; Toutain A; Trembath RC; Voss E; Wilson L; Hennekam R; de Zegher F; Dörr HG; Reis A
Science; 2008 Feb; 319(5864):816-9. PubMed ID: 18174396
[TBL] [Abstract][Full Text] [Related]
11. Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II.
Marzano F; Chiara M; Consiglio A; D'Amato G; Gentile M; Mirabelli V; Piane M; Savio C; Fabiani M; D'Elia D; Sbisà E; Scarano G; Lonardo F; Tullo A; Pesole G; Faienza MF
Int J Mol Sci; 2023 Jul; 24(15):. PubMed ID: 37569667
[TBL] [Abstract][Full Text] [Related]
12. Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.
Willems M; Geneviève D; Borck G; Baumann C; Baujat G; Bieth E; Edery P; Farra C; Gerard M; Héron D; Leheup B; Le Merrer M; Lyonnet S; Martin-Coignard D; Mathieu M; Thauvin-Robinet C; Verloes A; Colleaux L; Munnich A; Cormier-Daire V
J Med Genet; 2010 Dec; 47(12):797-802. PubMed ID: 19643772
[TBL] [Abstract][Full Text] [Related]
13. Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations.
Bober MB; Niiler T; Duker AL; Murray JE; Ketterer T; Harley ME; Alvi S; Flora C; Rustad C; Bongers EM; Bicknell LS; Wise C; Jackson AP
Am J Med Genet A; 2012 Nov; 158A(11):2719-25. PubMed ID: 22821869
[TBL] [Abstract][Full Text] [Related]
14. Identification of two novel critical mutations in PCNT gene resulting in microcephalic osteodysplastic primordial dwarfism type II associated with multiple intracranial aneurysms.
Li FF; Wang XD; Zhu MW; Lou ZH; Zhang Q; Zhu CY; Feng HL; Lin ZG; Liu SL
Metab Brain Dis; 2015 Dec; 30(6):1387-94. PubMed ID: 26231886
[TBL] [Abstract][Full Text] [Related]
15. Novel compound heterozygous mutations of
Ma Y; Xu Z; Zhao J; Shen H
Gynecol Endocrinol; 2021 Feb; 37(2):190-192. PubMed ID: 33016782
[TBL] [Abstract][Full Text] [Related]
16. Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesis.
Unal S; Alanay Y; Cetin M; Boduroglu K; Utine E; Cormier-Daire V; Huber C; Ozsurekci Y; Kilic E; Simsek Kiper OP; Gumruk F
Pediatr Blood Cancer; 2014 Feb; 61(2):302-5. PubMed ID: 24106199
[TBL] [Abstract][Full Text] [Related]
17. Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2-year-old girl.
Rossi-Espagnet MC; Dentici ML; Pasquini L; Carducci C; Lucignani M; Longo D; Agolini E; Novelli A; Gonfiantini MV; Digilio MC; Napolitano A; Bartuli A
Am J Med Genet A; 2020 Oct; 182(10):2372-2376. PubMed ID: 32744776
[TBL] [Abstract][Full Text] [Related]
18. A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report.
Pachajoa H; Ruiz-Botero F; Isaza C
J Med Case Rep; 2014 Jun; 8():191. PubMed ID: 24928221
[TBL] [Abstract][Full Text] [Related]
19. The smallest of the small.
Hall JG
Gene; 2013 Oct; 528(1):55-7. PubMed ID: 23583796
[TBL] [Abstract][Full Text] [Related]
20. New PCNT candidate missense variant in a patient with oral and maxillofacial osteodysplasia: a case report.
Aoyama KI; Kimura M; Yamazaki H; Uchibori M; Kojima R; Osawa Y; Hosomichi K; Ota Y; Tanaka M; Yamada S; Nishimura G
BMC Med Genet; 2019 Jul; 20(1):126. PubMed ID: 31311520
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]