147 related articles for article (PubMed ID: 30548201)
1. The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance.
Lehalle D; Altunoglu U; Bruel AL; Assoum M; Duffourd Y; Masurel A; Baujat G; Bessieres B; Captier G; Edery P; Elçioğlu NH; Geneviève D; Goldenberg A; Héron D; Grotto S; Marlin S; Putoux A; Rossi M; Saugier-Veber P; Triau S; Cabrol C; Vézain M; Vincent-Delorme C; Thauvin-Robinet C; Thevenon J; Vabres P; Callier P; Kayserili H; Faivre L
Am J Med Genet A; 2018 Dec; 176(12):2740-2750. PubMed ID: 30548201
[TBL] [Abstract][Full Text] [Related]
2. Oculoauriculofrontonasal syndrome: Refining the phenotype through a new case series and literature review.
Serigatto HR; Kokitsu-Nakata NM; Vendramini-Pittoli S; Tonello C; Moura PP; Peixoto AP; Gomes LP; Zechi-Ceide RM
Am J Med Genet A; 2023 Oct; 191(10):2493-2507. PubMed ID: 37282829
[TBL] [Abstract][Full Text] [Related]
3. Oculoauriculofrontonasal syndrome: case series revealing new bony nasal anomalies in an old syndrome.
Evans KN; Gruss JS; Khanna PC; Cunningham ML; Cox TC; Hing AV
Am J Med Genet A; 2013 Jun; 161A(6):1345-53. PubMed ID: 23637006
[TBL] [Abstract][Full Text] [Related]
4. Oculoauriculofrontonasal Dysplasia Syndrome With Additional Clinical Features.
Tunc T; Polat A; Altan B; Yapici AK; Saldir M; Sari S; Sari E; Bayram Y; Eski M
Cleft Palate Craniofac J; 2017 Nov; 54(6):749-753. PubMed ID: 27723380
[TBL] [Abstract][Full Text] [Related]
5. New SMARCE1 variant in a patient with features overlapping with oculoauriculofrontonasal syndrome.
Yano S; Fujimoto A; Morin-Leisk J; Matumoto N; Miyake N; Gillespie M; Gao H
Clin Genet; 2018 Nov; 94(5):487-488. PubMed ID: 30209809
[No Abstract] [Full Text] [Related]
6. Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.
Lehalle D; Bruel AL; Vitobello A; Denommé-Pichon AS; Duffourd Y; Assoum M; Amiel J; Baujat G; Bessieres B; Bigoni S; Burglen L; Captier G; Dard R; Edery P; Fortunato F; Geneviève D; Goldenberg A; Guibaud L; Héron D; Holder-Espinasse M; Lederer D; Lopez Grondona F; Grotto S; Marlin S; Nadeau G; Picard A; Rossi M; Roume J; Sanlaville D; Saugier-Veber P; Triau S; Valenzuela Palafoll MI; Vanlerberghe C; Van Maldergem L; Vezain M; Vincent-Delorme C; Zivi E; Thevenon J; Vabres P; Thauvin-Robinet C; Callier P; Faivre L
Am J Med Genet A; 2022 Jul; 188(7):2036-2047. PubMed ID: 35445792
[TBL] [Abstract][Full Text] [Related]
7. Characterizing the oculoauriculofrontonasal syndrome.
Gabbett MT; Robertson SP; Broadbent R; Aftimos S; Sachdev R; Nezarati MM
Clin Dysmorphol; 2008 Apr; 17(2):79-85. PubMed ID: 18388775
[TBL] [Abstract][Full Text] [Related]
8. Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients.
Lehalle D; Altunoglu U; Bruel AL; Arnaud E; Blanchet P; Choi JW; Désir J; Kiliç E; Lederer D; Pinson L; Thauvin-Robinet C; Singer A; Thevenon J; Callier P; Kayserili H; Faivre L
Am J Med Genet A; 2017 Dec; 173(12):3136-3142. PubMed ID: 29136349
[TBL] [Abstract][Full Text] [Related]
9. The oculo-auriculo-fronto-nasal syndrome (OAFNS) - description of a rare and complex craniofacial deformity and its interdisciplinary management before school age.
Adolphs N; Arnaud E; Haberl EJ; Graul-Neumann L; Schmidt G; Menneking H; Hoffmeister B
J Craniomaxillofac Surg; 2012 Dec; 40(8):668-74. PubMed ID: 22245432
[TBL] [Abstract][Full Text] [Related]
10. Oculo-Auriculo-Fronto-Nasal Syndrome With Duane Retraction Syndrome and Dysplastic Bony Structure in the Midline of Nose.
Ito R; Osawa M; Yamamoto Y; Murao N; Hayashi T; Maeda T; Ishikawa K; Oyama A; Funayama E
J Craniofac Surg; 2019 Sep; 30(6):e576-e578. PubMed ID: 31756883
[TBL] [Abstract][Full Text] [Related]
11. Airway anomalies in the oculoauriculofrontonasal syndrome.
Román Corona-Rivera J; López-Marure E; Gómez-Ruíz L; Carmen Abreu-Fernández MD; Quezada-López C; Pérez-Molina J; Santibañez-Escobar LP
Clin Dysmorphol; 2007 Jan; 16(1):43-45. PubMed ID: 17159514
[TBL] [Abstract][Full Text] [Related]
12. Complex craniofacial cleft and accessory maxilla in oculoauriculofrontonasal syndrome.
Serigatto HR; Kokitsu-Nakata NM; Moura PP; Vendramini-Pittoli S; Virmond LA; Peixoto AP; Tonello C; Brito LA; Passos-Bueno MR; Zechi-Ceide RM
Clin Dysmorphol; 2023 Jan; 32(1):21-24. PubMed ID: 36503920
[No Abstract] [Full Text] [Related]
13. Exclusion of mutations in TGIF, ALX3, and ALX4 genes in patients with the syndrome of frontonasal dysgenesis, callosal agenesis, basal encephalocele, and eye anomalies.
Ribeiro-Bicudo LA; Quiezi RG; Guion-Almeida ML; Legnaro C; Richieri-Costa A
Am J Med Genet A; 2012 May; 158A(5):1233-5. PubMed ID: 22496059
[No Abstract] [Full Text] [Related]
14. Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype.
Ferrarini A; Gaillard M; Guerry F; Ramelli G; Heidi F; Keddache CV; Wieland I; Beckmann JS; Jaquemont S; Martinet D
Am J Med Genet A; 2014 Feb; 164A(2):346-52. PubMed ID: 24376213
[TBL] [Abstract][Full Text] [Related]
15. Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.
Beleza-Meireles A; Hart R; Clayton-Smith J; Oliveira R; Reis CF; Venâncio M; Ramos F; Sá J; Ramos L; Cunha E; Pires LM; Carreira IM; Scholey R; Wright R; Urquhart JE; Briggs TA; Kerr B; Kingston H; Metcalfe K; Donnai D; Newman WG; Saraiva JM; Tassabehji M
Eur J Med Genet; 2015 Sep; 58(9):455-65. PubMed ID: 26206081
[TBL] [Abstract][Full Text] [Related]
16. Oculoauriculofrontonasal syndrome (OAFNS) in a nine-month-old male.
Ishmael HA; Begleiter ML; Regier EJ; Butler MG
Am J Med Genet; 2002 Jan; 107(2):169-73. PubMed ID: 11807893
[TBL] [Abstract][Full Text] [Related]
17. Frontonasal malformation and the oculoauriculovertebral spectrum: the oculoauriculofrontonasal syndrome.
Casey HD; Braddock SR; Haskins RC; Carey JC; Morales L
Cleft Palate Craniofac J; 1996 Nov; 33(6):519-23. PubMed ID: 8939380
[TBL] [Abstract][Full Text] [Related]
18. Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen Brazilian cases and review of the literature.
Vendramini S; Richieri-Costa A; Guion-Almeida ML
Eur J Hum Genet; 2007 Apr; 15(4):411-21. PubMed ID: 17290277
[TBL] [Abstract][Full Text] [Related]
19. Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3.
Trimouille A; Tingaud-Sequeira A; Lacombe D; Duelund Hjortshøj T; Kreiborg S; Buciek Hove H; Rooryck C
Clin Genet; 2020 Oct; 98(4):384-389. PubMed ID: 32639022
[TBL] [Abstract][Full Text] [Related]
20. Vertical transmission of a frontonasal phenotype caused by a novel ALX4 mutation.
Bertola DR; Rodrigues MG; Quaio CR; Kim CA; Passos-Bueno MR
Am J Med Genet A; 2013 Mar; 161A(3):600-4. PubMed ID: 23401352
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
