178 related articles for article (PubMed ID: 35732499)
1. A de novo start-loss in
Kohailan M; Al-Saei O; Padmajeya S; Aamer W; Elbashir N; Al-Shabeeb Akil A; Kamboh AR; Fakhro K
Cold Spring Harb Mol Case Stud; 2022 Jun; 8(4):. PubMed ID: 35732499
[TBL] [Abstract][Full Text] [Related]
2. Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
Huang L; Vanstone MR; Hartley T; Osmond M; Barrowman N; Allanson J; Baker L; Dabir TA; Dipple KM; Dobyns WB; Estrella J; Faghfoury H; Favaro FP; Goel H; Gregersen PA; Gripp KW; Grix A; Guion-Almeida ML; Harr MH; Hudson C; Hunter AG; Johnson J; Joss SK; Kimball A; Kini U; Kline AD; Lauzon J; Lildballe DL; López-González V; Martinezmoles J; Meldrum C; Mirzaa GM; Morel CF; Morton JE; Pyle LC; Quintero-Rivera F; Richer J; Scheuerle AE; Schönewolf-Greulich B; Shears DJ; Silver J; Smith AC; Temple IK; ; van de Kamp JM; van Dijk FS; Vandersteen AM; White SM; Zackai EH; Zou R; ; Bulman DE; Boycott KM; Lines MA
Hum Mutat; 2016 Feb; 37(2):148-54. PubMed ID: 26507355
[TBL] [Abstract][Full Text] [Related]
3. A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report.
Jacob A; Pasquier J; Carapito R; Auradé F; Molitor A; Froguel P; Fakhro K; Halabi N; Viot G; Bahram S; Rafii A
BMC Med Genet; 2020 Sep; 21(1):182. PubMed ID: 32943010
[TBL] [Abstract][Full Text] [Related]
4. A novel de novo missense mutation in EFTUD2 identified by whole-exome sequencing in mandibulofacial dysostosis with microcephaly.
Yang M; Liu Y; Lin Z; Sun H; Hu T
J Clin Lab Anal; 2022 May; 36(5):e24440. PubMed ID: 35435265
[TBL] [Abstract][Full Text] [Related]
5. Clinical and molecular delineation of mandibulofacial dysostosis with microcephaly in six Korean patients: When to consider EFTUD2 analysis?
Ryu JH; Kim HY; Ko JM; Kim MJ; Seong MW; Choi BY; Chae JH
Eur J Med Genet; 2022 May; 65(5):104478. PubMed ID: 35395430
[TBL] [Abstract][Full Text] [Related]
6. Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey.
Abell K; Hopkin RJ; Bender PL; Jackson F; Smallwood K; Sullivan B; Stottmann RW; Saal HM; Weaver KN
Am J Med Genet A; 2021 Feb; 185(2):413-423. PubMed ID: 33247512
[TBL] [Abstract][Full Text] [Related]
7. Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2.
Chen Y; Yang R; Chen X; Lin N; Li C; Fu Y; He A; Wang Y; Zhang T; Ma J
Mol Genet Genomic Med; 2024 Apr; 12(4):e2426. PubMed ID: 38562046
[TBL] [Abstract][Full Text] [Related]
8. Mandibulofacial dysostosis with microcephaly: A case presenting with seizures.
Matsuo M; Yamauchi A; Ito Y; Sakauchi M; Yamamoto T; Okamoto N; Tsurusaki Y; Miyake N; Matsumoto N; Saito K
Brain Dev; 2017 Feb; 39(2):177-181. PubMed ID: 27670155
[TBL] [Abstract][Full Text] [Related]
9. Loss of function mutation of Eftud2, the gene responsible for mandibulofacial dysostosis with microcephaly (MFDM), leads to pre-implantation arrest in mouse.
Beauchamp MC; Djedid A; Daupin K; Clokie K; Kumar S; Majewski J; Jerome-Majewska LA
PLoS One; 2019; 14(7):e0219280. PubMed ID: 31276534
[TBL] [Abstract][Full Text] [Related]
10. Array-CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly.
Gandomi SK; Parra M; Reeves D; Yap V; Gau CL
Clin Genet; 2015; 87(1):80-4. PubMed ID: 24266672
[TBL] [Abstract][Full Text] [Related]
11. Novel De Novo EFTUD2 Mutations in 2 Cases With MFDM, Initially Suspected to Have Alternative Craniofacial Diagnoses.
Lacour JC; McBride L; St Hilaire H; Mundinger GS; Moses M; Koon J; Torres JI; Lacassie Y
Cleft Palate Craniofac J; 2019 May; 56(5):674-678. PubMed ID: 30343593
[TBL] [Abstract][Full Text] [Related]
12. Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.
Lines MA; Huang L; Schwartzentruber J; Douglas SL; Lynch DC; Beaulieu C; Guion-Almeida ML; Zechi-Ceide RM; Gener B; Gillessen-Kaesbach G; Nava C; Baujat G; Horn D; Kini U; Caliebe A; Alanay Y; Utine GE; Lev D; Kohlhase J; Grix AW; Lohmann DR; Hehr U; Böhm D; ; Majewski J; Bulman DE; Wieczorek D; Boycott KM
Am J Hum Genet; 2012 Feb; 90(2):369-77. PubMed ID: 22305528
[TBL] [Abstract][Full Text] [Related]
13. Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome.
Sarkar A; Emrick LT; Smith EM; Austin EG; Yang Y; Hunter JV; Scaglia F; Lalani SR
Am J Med Genet A; 2015 Apr; 167A(4):914-8. PubMed ID: 25735261
[No Abstract] [Full Text] [Related]
14. Radioulnar Synostosis and Brain Abnormalities in a Patient With 17q21.31 Microdeletion Involving EFTUD2.
Zarate YA; Bell C; Schaefer GB
Cleft Palate Craniofac J; 2015 Mar; 52(2):237-9. PubMed ID: 24805776
[TBL] [Abstract][Full Text] [Related]
15. A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type.
Ulhaq ZS; Soraya GV; Istifiani LA; Pamungkas SA; Arisanti D; Dini B; Astari LF; Hasan YTN; Ayudianti P; Kusuma MAS; Shodry S; Herawangsa S; Nurputra DK; Idaiani S; Tse WKF
Cleft Palate Craniofac J; 2024 Apr; 61(4):688-696. PubMed ID: 36317361
[TBL] [Abstract][Full Text] [Related]
16. EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida type.
Thomas HB; Wood KA; Buczek WA; Gordon CT; Pingault V; Attié-Bitach T; Hentges KE; Varghese VC; Amiel J; Newman WG; O'Keefe RT
Hum Mutat; 2020 Aug; 41(8):1372-1382. PubMed ID: 32333448
[TBL] [Abstract][Full Text] [Related]
17. EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway.
Wu J; Yang Y; He Y; Li Q; Wang X; Sun C; Wang L; An Y; Luo F
Hum Genomics; 2019 Dec; 13(1):63. PubMed ID: 31806011
[TBL] [Abstract][Full Text] [Related]
18. The Genetics Journey: A Case Report of a Genetic Diagnosis Made 30 Years Later.
Williams LA; Quinonez SC; Uhlmann WR
J Genet Couns; 2017 Oct; 26(5):894-901. PubMed ID: 28612151
[TBL] [Abstract][Full Text] [Related]
19. [Clinical case analysis and literature review of mandibulofacial dysostosis with microcephaly syndrome].
Li X; Hong M; Dai P; Yuan Y
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2022 Jan; 36(1):36-40. PubMed ID: 34979617
[No Abstract] [Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
