361 related articles for article (PubMed ID: 26416026)
1. Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism.
Shaheen R; Abdel-Salam GM; Guy MP; Alomar R; Abdel-Hamid MS; Afifi HH; Ismail SI; Emam BA; Phizicky EM; Alkuraya FS
Genome Biol; 2015 Sep; 16():210. PubMed ID: 26416026
[TBL] [Abstract][Full Text] [Related]
2. Further delineation of the phenotype caused by biallelic variants in the WDR4 gene.
Trimouille A; Lasseaux E; Barat P; Deiller C; Drunat S; Rooryck C; Arveiler B; Lacombe D
Clin Genet; 2018 Feb; 93(2):374-377. PubMed ID: 28617965
[TBL] [Abstract][Full Text] [Related]
3. RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.
Shamseldin H; Alazami AM; Manning M; Hashem A; Caluseiu O; Tabarki B; Esplin E; Schelley S; Innes AM; Parboosingh JS; Lamont R; ; Majewski J; Bernier FP; Alkuraya FS
Am J Hum Genet; 2015 Dec; 97(6):862-8. PubMed ID: 26608784
[TBL] [Abstract][Full Text] [Related]
4. Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation.
Nair P; Hamzeh AR; Mohamed M; Saif F; Tawfiq N; El Halik M; Al-Ali MT; Bastaki F
Am J Med Genet A; 2016 Aug; 170(8):2127-32. PubMed ID: 27232581
[TBL] [Abstract][Full Text] [Related]
5. A novel cause for primordial dwarfism revealed: defective tRNA modification.
Filonava L; Torres AG; Ribas de Pouplana L
Genome Biol; 2015 Oct; 16():216. PubMed ID: 26429597
[TBL] [Abstract][Full Text] [Related]
6. Two proteins that form a complex are required for 7-methylguanosine modification of yeast tRNA.
Alexandrov A; Martzen MR; Phizicky EM
RNA; 2002 Oct; 8(10):1253-66. PubMed ID: 12403464
[TBL] [Abstract][Full Text] [Related]
7. Speech and language delay in a patient with WDR4 mutations.
Chen X; Gao Y; Yang L; Wu B; Dong X; Liu B; Lu Y; Zhou W; Wang H
Eur J Med Genet; 2018 Aug; 61(8):468-472. PubMed ID: 29597095
[TBL] [Abstract][Full Text] [Related]
8. Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I.
Abdel-Salam GM; Abdel-Hamid MS; Issa M; Magdy A; El-Kotoury A; Amr K
Am J Med Genet A; 2012 Jun; 158A(6):1455-61. PubMed ID: 22581640
[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. Mettl1/Wdr4-Mediated m
Lin S; Liu Q; Lelyveld VS; Choe J; Szostak JW; Gregory RI
Mol Cell; 2018 Jul; 71(2):244-255.e5. PubMed ID: 29983320
[TBL] [Abstract][Full Text] [Related]
11. Genomic analysis of primordial dwarfism reveals novel disease genes.
Shaheen R; Faqeih E; Ansari S; Abdel-Salam G; Al-Hassnan ZN; Al-Shidi T; Alomar R; Sogaty S; Alkuraya FS
Genome Res; 2014 Feb; 24(2):291-9. PubMed ID: 24389050
[TBL] [Abstract][Full Text] [Related]
12. Production of yeast tRNA (m(7)G46) methyltransferase (Trm8-Trm82 complex) in a wheat germ cell-free translation system.
Matsumoto K; Tomikawa C; Toyooka T; Ochi A; Takano Y; Takayanagi N; Abe M; Endo Y; Hori H
J Biotechnol; 2008 Feb; 133(4):453-60. PubMed ID: 18164779
[TBL] [Abstract][Full Text] [Related]
13. Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism.
Shaheen R; Al Tala S; Almoisheer A; Alkuraya FS
J Med Genet; 2014 Dec; 51(12):814-6. PubMed ID: 25320347
[TBL] [Abstract][Full Text] [Related]
14. Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction.
Cavallin M; Bery A; Maillard C; Salomon LJ; Bole C; Reilly ML; Nitschké P; Boddaert N; Bahi-Buisson N
Eur J Med Genet; 2018 Dec; 61(12):755-758. PubMed ID: 30121372
[TBL] [Abstract][Full Text] [Related]
15. Structures and mechanisms of tRNA methylation by METTL1-WDR4.
Ruiz-Arroyo VM; Raj R; Babu K; Onolbaatar O; Roberts PH; Nam Y
Nature; 2023 Jan; 613(7943):383-390. PubMed ID: 36599982
[TBL] [Abstract][Full Text] [Related]
16. Genomic and phenotypic delineation of congenital microcephaly.
Shaheen R; Maddirevula S; Ewida N; Alsahli S; Abdel-Salam GMH; Zaki MS; Tala SA; Alhashem A; Softah A; Al-Owain M; Alazami AM; Abadel B; Patel N; Al-Sheddi T; Alomar R; Alobeid E; Ibrahim N; Hashem M; Abdulwahab F; Hamad M; Tabarki B; Alwadei AH; Alhazzani F; Bashiri FA; Kentab A; Şahintürk S; Sherr E; Fregeau B; Sogati S; Alshahwan SAM; Alkhalifi S; Alhumaidi Z; Temtamy S; Aglan M; Otaify G; Girisha KM; Tulbah M; Seidahmed MZ; Salih MA; Abouelhoda M; Momin AA; Saffar MA; Partlow JN; Arold ST; Faqeih E; Walsh C; Alkuraya FS
Genet Med; 2019 Mar; 21(3):545-552. PubMed ID: 30214071
[TBL] [Abstract][Full Text] [Related]
17. Primordial dwarfism: an update.
Alkuraya FS
Curr Opin Endocrinol Diabetes Obes; 2015 Feb; 22(1):55-64. PubMed ID: 25490023
[TBL] [Abstract][Full Text] [Related]
18. Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities.
Karaca E; Posey JE; Bostwick B; Liu P; Gezdirici A; Yesil G; Coban Akdemir Z; Bayram Y; Harms FL; Meinecke P; Alawi M; Bacino CA; Sutton VR; Kortüm F; Lupski JR
Am J Med Genet A; 2019 Oct; 179(10):2056-2066. PubMed ID: 31407851
[TBL] [Abstract][Full Text] [Related]
19. Biallelic variants in DNA2 cause microcephalic primordial dwarfism.
Tarnauskaitė Ž; Bicknell LS; Marsh JA; Murray JE; Parry DA; Logan CV; Bober MB; de Silva DC; Duker AL; Sillence D; Wise C; Jackson AP; Murina O; Reijns MAM
Hum Mutat; 2019 Aug; 40(8):1063-1070. PubMed ID: 31045292
[TBL] [Abstract][Full Text] [Related]
20. A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features.
Akalın A; Şimşek-Kiper PÖ; Taşkıran EZ; Karaosmanoğlu B; Utine GE; Boduroğlu K
Am J Med Genet A; 2023 Apr; 191(4):1119-1127. PubMed ID: 36630262
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]