147 related articles for article (PubMed ID: 21595001)
1. Evidence for autosomal dominant inheritance of ablepharon-macrostomia syndrome.
Rohena L; Kuehn D; Marchegiani S; Higginson JD
Am J Med Genet A; 2011 Apr; 155A(4):850-4. PubMed ID: 21595001
[TBL] [Abstract][Full Text] [Related]
2. Ablepharon-macrostomia syndrome: first report of familial occurrence.
Ferraz VE; Melo DG; Hansing SE; Cruz AA; Pina-Neto JM
Am J Med Genet; 2000 Oct; 94(4):281-3. PubMed ID: 11038439
[TBL] [Abstract][Full Text] [Related]
3. Ablepharon-Macrostomia syndrome--extension of the phenotype.
Kallish S; McDonald-McGinn DM; van Haelst MM; Bartlett SP; Katowitz JA; Zackai EH
Am J Med Genet A; 2011 Dec; 155A(12):3060-2. PubMed ID: 22002929
[TBL] [Abstract][Full Text] [Related]
4. Ablepharon-macrostomia syndrome.
Stevens CA; Sargent LA
Am J Med Genet; 2002 Jan; 107(1):30-7. PubMed ID: 11807864
[TBL] [Abstract][Full Text] [Related]
5. Ablepharon-macrostomia syndrome in a 46-year-old woman.
Brancati F; Mingarelli R; Sarkozy A; Dallapiccola B
Am J Med Genet A; 2004 May; 127A(1):96-98. PubMed ID: 15103726
[TBL] [Abstract][Full Text] [Related]
6. A new feature of the ablepharon macrostomia syndrome: zygomatic arch absence.
Jackson IT; Shaw KE; del Pinal Matorras F
Br J Plast Surg; 1988 Jul; 41(4):410-6. PubMed ID: 3293678
[TBL] [Abstract][Full Text] [Related]
7. Ablepharon macrostomia syndrome: Absent prepuce in the first case report in West Africa.
Nwaneli EI; Chukwuka JO; Uju CM; Epundu CO
Niger Postgrad Med J; 2021; 28(4):298-302. PubMed ID: 34850759
[TBL] [Abstract][Full Text] [Related]
8. Use of the Masquerade Flap in Ablepharon-Macrostomia Syndrome: A Case Report.
Hollanders K; Casteels I; Vandelanotte S; Reyniers R; Segers K; Nevens T; Mombaerts I
Cornea; 2018 Jul; 37(7):929-932. PubMed ID: 29538102
[TBL] [Abstract][Full Text] [Related]
9. Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview.
De Maria B; Mazzanti L; Roche N; Hennekam RC
Am J Med Genet A; 2016 Aug; 170(8):1989-2001. PubMed ID: 27196381
[TBL] [Abstract][Full Text] [Related]
10. Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders.
Schanze D; Harakalova M; Stevens CA; Brancati F; Dallapiccola B; Farndon P; Ferraz VE; McDonald-McGinn DM; Zackai EH; Wright M; van Lieshout S; Vogel MJ; van Haelst MM; Zenker M
Am J Med Genet A; 2013 Dec; 161A(12):3012-7. PubMed ID: 24115501
[TBL] [Abstract][Full Text] [Related]
11. Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.
Marchegiani S; Davis T; Tessadori F; van Haaften G; Brancati F; Hoischen A; Huang H; Valkanas E; Pusey B; Schanze D; Venselaar H; Vulto-van Silfhout AT; Wolfe LA; Tifft CJ; Zerfas PM; Zambruno G; Kariminejad A; Sabbagh-Kermani F; Lee J; Tsokos MG; Lee CC; Ferraz V; da Silva EM; Stevens CA; Roche N; Bartsch O; Farndon P; Bermejo-Sanchez E; Brooks BP; Maduro V; Dallapiccola B; Ramos FJ; Chung HY; Le Caignec C; Martins F; Jacyk WK; Mazzanti L; Brunner HG; Bakkers J; Lin S; Malicdan MC; Boerkoel CF; Gahl WA; de Vries BB; van Haelst MM; Zenker M; Markello TC
Am J Hum Genet; 2015 Jul; 97(1):99-110. PubMed ID: 26119818
[TBL] [Abstract][Full Text] [Related]
12. Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder.
Haensel J; Kohlschmidt N; Pitz S; Keilmann A; Zenker M; Ullmann R; Haaf T; Bartsch O
Am J Med Genet A; 2009 Oct; 149A(10):2236-40. PubMed ID: 19760652
[TBL] [Abstract][Full Text] [Related]
13. Ablepharon Macrostomia Syndrome: Rib Cartilage and Fat Grafting for Lower Lid Reconstruction.
Kurnik NM; Leach GA; Singh DJ; Mansueto LA
J Craniofac Surg; 2021 May; 32(3):e285-e286. PubMed ID: 33055564
[TBL] [Abstract][Full Text] [Related]
14. Familial occurrence of ablepharon macrostomia syndrome: eyelid structure and surgical considerations.
Cruz AA; Souza CA; Ferraz VE; Monteiro CA; Martins FA
Arch Ophthalmol; 2000 Mar; 118(3):428-30. PubMed ID: 10721975
[No Abstract] [Full Text] [Related]
15. Fraser and Ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1.
Cavalcanti DP; Matejas V; Luquetti D; Mello MF; Zenker M
Am J Med Genet A; 2007 Feb; 143A(3):241-7. PubMed ID: 17163535
[TBL] [Abstract][Full Text] [Related]
16. Ablepharon macrostomia syndrome with associated cutis laxa: possible localization to 18q.
Pellegrino JE; Schnur RE; Boghosian-Sell L; Strathdee G; Overhauser J; Spinner NB; Stump T; Grace K; Zackai EH
Hum Genet; 1996 Apr; 97(4):532-6. PubMed ID: 8834257
[TBL] [Abstract][Full Text] [Related]
17. Long-Term Results of the Surgical Management of the Upper Eyelids in "Ablepharon"-Macrostomia Syndrome.
Cruz AAV; Quiroz D; Boza T; Wambier SPF; Akaishi PS
Ophthalmic Plast Reconstr Surg; 2020; 36(1):21-25. PubMed ID: 31373987
[TBL] [Abstract][Full Text] [Related]
18. Laryngo-tracheal stenosis in a woman with ablepharon macrostomia syndrome.
Ciriaco P; Carretta A; Negri G
BMC Pulm Med; 2019 Aug; 19(1):163. PubMed ID: 31462237
[TBL] [Abstract][Full Text] [Related]
19. Ablepharon macrostomia syndrome.
Price NJ; Pugh RE; Farndon PA; Willshaw HE
Br J Ophthalmol; 1991 May; 75(5):317-9. PubMed ID: 2036354
[TBL] [Abstract][Full Text] [Related]
20. Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution.
Takenouchi T; Sakamoto Y; Sato H; Suzuki H; Uehara T; Ohsone Y; Kosaki K
Am J Med Genet A; 2018 Dec; 176(12):2777-2780. PubMed ID: 30450715
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]