148 related articles for article (PubMed ID: 15959873)
1. Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS).
Wieland I; Reardon W; Jakubiczka S; Franco B; Kress W; Vincent-Delorme C; Thierry P; Edwards M; König R; Rusu C; Schweiger S; Thompson E; Tinschert S; Stewart F; Wieacker P
Hum Mutat; 2005 Aug; 26(2):113-8. PubMed ID: 15959873
[TBL] [Abstract][Full Text] [Related]
2. The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function.
Makarov R; Steiner B; Gucev Z; Tasic V; Wieacker P; Wieland I
BMC Med Genet; 2010 Jun; 11():98. PubMed ID: 20565770
[TBL] [Abstract][Full Text] [Related]
3. Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome.
Wieland I; Jakubiczka S; Muschke P; Cohen M; Thiele H; Gerlach KL; Adams RH; Wieacker P
Am J Hum Genet; 2004 Jun; 74(6):1209-15. PubMed ID: 15124102
[TBL] [Abstract][Full Text] [Related]
4. Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.
Twigg SR; Kan R; Babbs C; Bochukova EG; Robertson SP; Wall SA; Morriss-Kay GM; Wilkie AO
Proc Natl Acad Sci U S A; 2004 Jun; 101(23):8652-7. PubMed ID: 15166289
[TBL] [Abstract][Full Text] [Related]
5. EFNB1 mutation at the ephrin ligand-receptor dimerization interface in a patient with craniofrontonasal syndrome.
Torii C; Izumi K; Nakajima H; Takahashi T; Kosaki K
Congenit Anom (Kyoto); 2007 Mar; 47(1):49-52. PubMed ID: 17300690
[TBL] [Abstract][Full Text] [Related]
6. Aberrant cell segregation in the craniofacial primordium and the emergence of facial dysmorphology in craniofrontonasal syndrome.
Niethamer TK; Teng T; Franco M; Du YX; Percival CJ; Bush JO
PLoS Genet; 2020 Feb; 16(2):e1008300. PubMed ID: 32092051
[TBL] [Abstract][Full Text] [Related]
7. Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic.
Wieland I; Makarov R; Reardon W; Tinschert S; Goldenberg A; Thierry P; Wieacker P
Eur J Hum Genet; 2008 Feb; 16(2):184-91. PubMed ID: 18043713
[TBL] [Abstract][Full Text] [Related]
8. Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome.
Howaldt A; Nampoothiri S; Yesodharan D; Udayakumaran S; Subash P; Kornak U
J Hum Genet; 2019 Sep; 64(9):867-873. PubMed ID: 31285555
[TBL] [Abstract][Full Text] [Related]
9. The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.
Twigg SR; Matsumoto K; Kidd AM; Goriely A; Taylor IB; Fisher RB; Hoogeboom AJ; Mathijssen IM; Lourenco MT; Morton JE; Sweeney E; Wilson LC; Brunner HG; Mulliken JB; Wall SA; Wilkie AO
Am J Hum Genet; 2006 Jun; 78(6):999-1010. PubMed ID: 16685650
[TBL] [Abstract][Full Text] [Related]
10. Report of a family with craniofrontonasal syndrome.
Özylmaz B; Gezdirici A; Özen M; Kalenderer Ö
Clin Dysmorphol; 2015 Apr; 24(2):79-83. PubMed ID: 25486017
[TBL] [Abstract][Full Text] [Related]
11. A Family with Craniofrontonasal Syndrome and a Mutation (p.G151S) in the EFNB1 Gene: Expanding the Phenotype.
Toral-López J; González-Huerta LM; Messina Baas O; Cuevas-Covarrubias SA
Mol Syndromol; 2016 Apr; 7(1):32-6. PubMed ID: 27194971
[TBL] [Abstract][Full Text] [Related]
12. Severe craniofrontonasal syndrome in a male patient mosaic for a novel nonsense mutation in EFNB1.
Shotelersuk V; Kamolvisit W; Rojvachiranonda N; Suphapeetiporn K; Porntaveetus T; Shotelersuk V
Eur J Med Genet; 2020 Jun; 63(6):103924. PubMed ID: 32240825
[TBL] [Abstract][Full Text] [Related]
13. A Family with Craniofrontonasal Syndrome: The First Report of Familial Cases of Craniofrontonasal Syndrome with Bilateral Cleft Lip and Palate.
Inoue Y; Sakamoto Y; Sugimoto M; Inagaki H; Boda H; Miyata M; Kato H; Kurahashi H; Okumoto T
Cleft Palate Craniofac J; 2018 Aug; 55(7):1026-1029. PubMed ID: 28140668
[TBL] [Abstract][Full Text] [Related]
14. Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice.
Babbs C; Stewart HS; Williams LJ; Connell L; Goriely A; Twigg SR; Smith K; Lester T; Wilkie AO
Hum Mutat; 2011 Aug; 32(8):930-8. PubMed ID: 21542058
[TBL] [Abstract][Full Text] [Related]
15. A novel mutation in EFNB1, probably with a dominant negative effect, underlying craniofrontonasal syndrome.
Shotelersuk V; Siriwan P; Ausavarat S
Cleft Palate Craniofac J; 2006 Mar; 43(2):152-4. PubMed ID: 16526919
[TBL] [Abstract][Full Text] [Related]
16. Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.
Twigg SR; Babbs C; van den Elzen ME; Goriely A; Taylor S; McGowan SJ; Giannoulatou E; Lonie L; Ragoussis J; Sadighi Akha E; Knight SJ; Zechi-Ceide RM; Hoogeboom JA; Pober BR; Toriello HV; Wall SA; Rita Passos-Bueno M; Brunner HG; Mathijssen IM; Wilkie AO
Hum Mol Genet; 2013 Apr; 22(8):1654-62. PubMed ID: 23335590
[TBL] [Abstract][Full Text] [Related]
17. Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia.
Vasudevan PC; Twigg SR; Mulliken JB; Cook JA; Quarrell OW; Wilkie AO
Eur J Hum Genet; 2006 Jul; 14(7):884-7. PubMed ID: 16639408
[TBL] [Abstract][Full Text] [Related]
18. Use of targeted next-generation sequencing for molecular diagnosis of craniosynostosis: Identification of a novel de novo mutation of EFNB1.
Yamamoto T; Igarashi N; Shimojima K; Sangu N; Sakamoto Y; Shimoji K; Niijima S
Congenit Anom (Kyoto); 2016 Mar; 56(2):91-3. PubMed ID: 26208246
[TBL] [Abstract][Full Text] [Related]
19. Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene.
Bukowska-Olech E; Gawliński P; Jakubiuk-Tomaszuk A; Jędrzejowska M; Obersztyn E; Piechota M; Bielska M; Jamsheer A
Orphanet J Rare Dis; 2021 Jun; 16(1):286. PubMed ID: 34174922
[TBL] [Abstract][Full Text] [Related]
20. A novel de novo mutation within EFNB1 gene in a young girl with craniofrontonasal syndrome.
Apostolopoulou D; Stratoudakis A; Hatzaki A; Kaxira OS; Panagopoulos KP; Kollia P; Aleporou V
Cleft Palate Craniofac J; 2012 Jan; 49(1):109-13. PubMed ID: 21385071
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
