145 related articles for article (PubMed ID: 8834257)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. Cutis laxa in a patient with 1p36 deletion syndrome.
Zhang Z; Wang J; Li N; Yao R; Chen J
J Dermatol; 2018 Jul; 45(7):871-873. PubMed ID: 29611295
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. Barber-Say Syndrome: report of a new case.
Mazzanti L; Bergamaschi R; Neri I; Perri A; Patrizi A; Cacciari E; Forabosco A
Am J Med Genet; 1998 Jun; 78(2):188-91. PubMed ID: 9674915
[TBL] [Abstract][Full Text] [Related]
14. Ablepheron macrostomia syndrome.
McCarthy GT; West CM
Dev Med Child Neurol; 1977 Oct; 19(5):659-63. PubMed ID: 913905
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Molecular characterization of patients with 18q23 deletions.
Strathdee G; Sutherland R; Jonsson JJ; Sataloff R; Kohonen-Corish M; Grady D; Overhauser J
Am J Hum Genet; 1997 Apr; 60(4):860-8. PubMed ID: 9106532
[TBL] [Abstract][Full Text] [Related]
18. A Case Report of Ablepharon-Macrostomia Syndrome with Amniotic Membrane Grafting.
Feinstein E; Traish AS; Aakalu V; Kassem IS
Case Rep Ophthalmol; 2015; 6(3):366-72. PubMed ID: 26600791
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. A case of Barber-Say syndrome in a male Japanese newborn.
Suga K; Shono M; Goji A; Matsuura S; Inoue M; Kawahito M; Kinoshita M; Takeda M; Mori K
Clin Case Rep; 2014 Oct; 2(5):224-7. PubMed ID: 25614816
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
