156 related articles for article (PubMed ID: 35445792)
1. 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]
2. 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]
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. Pai syndrome: a review.
Olivero F; Foiadelli T; Luzzi S; Marseglia GL; Savasta S
Childs Nerv Syst; 2020 Nov; 36(11):2635-2640. PubMed ID: 32651596
[TBL] [Abstract][Full Text] [Related]
5. Diagnostic criteria in Pai syndrome: results of a case series and a literature review.
Morice A; Galliani E; Amiel J; Rachwalski M; Neiva C; Thauvin-Robinet C; Vazquez MP; Picard A; Kadlub N
Int J Oral Maxillofac Surg; 2019 Mar; 48(3):283-290. PubMed ID: 30195458
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
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. Pai syndrome: challenging prenatal diagnosis and management.
Blouet M; Belloy F; Jeanne-Pasquier C; Leporrier N; Benoist G
Pediatr Radiol; 2014 Sep; 44(9):1184-7. PubMed ID: 24748063
[TBL] [Abstract][Full Text] [Related]
10. Case report: Pai syndrome with multiple ventricular septal defect and without cleft palate.
Kocaaga A; Bildirici Y; Yimenicioglu S; Karademir-Arslan NC; Vural C; Yildirim E
Clin Neurol Neurosurg; 2024 Jan; 236():108045. PubMed ID: 38091702
[TBL] [Abstract][Full Text] [Related]
11. [Pai syndrome: Two new cases with unusual manifestations].
Huckstadt V; Heis Mendoza ME; Moresco A; Obregon MG
Arch Argent Pediatr; 2018 Apr; 116(2):e336-e340. PubMed ID: 29557629
[TBL] [Abstract][Full Text] [Related]
12. 'Pai Syndrome' with anterior alveolar polyp: A variant of a rare clinical entity.
Debnath KK; Kanapaty Y; Yong DJ; Chandran S; Bakri A
Med J Malaysia; 2019 Jun; 74(3):229-230. PubMed ID: 31256179
[TBL] [Abstract][Full Text] [Related]
13. Prenatal detection of Pai syndrome without cleft lip and palate: a case report.
Ocak Z; Yazicioglu HF; Aygun M; Ilter MK; Ozlu T
Genet Couns; 2013; 24(1):1-5. PubMed ID: 23610859
[TBL] [Abstract][Full Text] [Related]
14. Ocular dermoid in Pai Syndrome: A review.
Tormey P; Bilic Cace I; Boyle MA
Eur J Med Genet; 2017 Apr; 60(4):217-219. PubMed ID: 28126651
[TBL] [Abstract][Full Text] [Related]
15. Atypical findings in three patients with Pai syndrome and literature review.
Lederer D; Wilson B; Lefesvre P; Poorten VV; Kirkham N; Mitra D; Verellen-Dumoulin C; Devriendt K
Am J Med Genet A; 2012 Nov; 158A(11):2899-904. PubMed ID: 22987662
[TBL] [Abstract][Full Text] [Related]
16. Next generation sequencing aids diagnosis and management in a case of encephalocraniocutaneous lipomatosis.
Barry KK; Liang MG; Balkin DM; Srivastava S; Church AJ; Eng W
Pediatr Dermatol; 2024; 41(1):76-79. PubMed ID: 37486073
[TBL] [Abstract][Full Text] [Related]
17. [Unilateral nasal obstruction in children: Pai syndrome].
Zanetta A; Cuestas G; Oviedo M; Tiscorni C
Arch Argent Pediatr; 2011 Oct; 109(5):e100-3. PubMed ID: 22042063
[TBL] [Abstract][Full Text] [Related]
18. Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis.
Boppudi S; Bögershausen N; Hove HB; Percin EF; Aslan D; Dvorsky R; Kayhan G; Li Y; Cursiefen C; Tantcheva-Poor I; Toft PB; Bartsch O; Lissewski C; Wieland I; Jakubiczka S; Wollnik B; Ahmadian MR; Heindl LM; Zenker M
Clin Genet; 2016 Oct; 90(4):334-42. PubMed ID: 26970110
[TBL] [Abstract][Full Text] [Related]
19. Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.
Bennett JT; Tan TY; Alcantara D; Tétrault M; Timms AE; Jensen D; Collins S; Nowaczyk MJM; Lindhurst MJ; Christensen KM; Braddock SR; Brandling-Bennett H; Hennekam RCM; Chung B; Lehman A; Su J; Ng S; Amor DJ; ; ; Majewski J; Biesecker LG; Boycott KM; Dobyns WB; O'Driscoll M; Moog U; McDonell LM
Am J Hum Genet; 2016 Mar; 98(3):579-587. PubMed ID: 26942290
[TBL] [Abstract][Full Text] [Related]
20. Nasal septal lipoma in a child: Pai syndrome or not?
AbdollahiFakhim S; Bayazian G; Notash R
Int J Pediatr Otorhinolaryngol; 2014 Apr; 78(4):697-700. PubMed ID: 24560239
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
