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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1986 1
1988 2
1989 1
1990 3
1992 1
1995 1
1996 2
1998 1
1999 1
2000 1
2001 1
2002 1
2003 1
2008 2
2011 1
2012 1
2013 1
2014 2
2015 1
2016 1
2017 1
2018 1
2019 2
2020 1
2022 2
2023 1

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32 results

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Page 1
Pai syndrome: a review.
Olivero F, Foiadelli T, Luzzi S, Marseglia GL, Savasta S. Olivero F, et al. Childs Nerv Syst. 2020 Nov;36(11):2635-2640. doi: 10.1007/s00381-020-04788-z. Epub 2020 Jul 10. Childs Nerv Syst. 2020. PMID: 32651596 Free PMC article. Review.
METHODS: We analyzed the PubMed database using the words "Pai syndrome", "frontonasal dysplasia", "cleft lip", "nasal polyp", "facial polyp", and "corpus callosum lipoma", including reviews, case reports and case series. ...
METHODS: We analyzed the PubMed database using the words "Pai syndrome", "frontonasal dysplasia", "cleft lip", "nasal polyp", …
Addressing hypertelorism: Indications and techniques.
Laure B, Batut C, Benouhagrem A, Joly A, Travers N, Listrat A, Pare A. Laure B, et al. Neurochirurgie. 2019 Nov;65(5):286-294. doi: 10.1016/j.neuchi.2019.09.007. Epub 2019 Sep 23. Neurochirurgie. 2019. PMID: 31557491 Review.
Marfan syndrome: from gene to therapy.
Bolar N, Van Laer L, Loeys BL. Bolar N, et al. Curr Opin Pediatr. 2012 Aug;24(4):498-504. doi: 10.1097/MOP.0b013e3283557d4c. Curr Opin Pediatr. 2012. PMID: 22705998 Review.
Facial clefts and facial dysplasia: revisiting the classification.
Mazzola RF, Mazzola IC. Mazzola RF, et al. J Craniofac Surg. 2014 Jan;25(1):26-34. doi: 10.1097/SCS.0b013e3182a2ea94. J Craniofac Surg. 2014. PMID: 24406554 Review.
The overused term cleft should be reserved to true clefts only, developed from disturbances in the union of the embryonic facial processes, between the lateronasal and maxillary process (or oro-naso-ocular cleft); between the medionasal and maxillary process (or cleft of the lip) …
The overused term cleft should be reserved to true clefts only, developed from disturbances in the union of the embryonic facial processes, …
Syndromes, disorders and maternal risk factors associated with neural tube defects (V).
Chen CP. Chen CP. Taiwan J Obstet Gynecol. 2008 Sep;47(3):259-66. doi: 10.1016/S1028-4559(08)60122-9. Taiwan J Obstet Gynecol. 2008. PMID: 18935987 Free article. Review.
This article provides a comprehensive review of the syndromes and disorders associated with NTDs, including Pallister-Hall syndrome, Walker-Warburg syndrome and Fukuyama congenital muscular dystrophy, MURCS association, Roberts syndrome, cerebro-costo-mandibular syndrome, lateral …
This article provides a comprehensive review of the syndromes and disorders associated with NTDs, including Pallister-Hall syndrome, Walker- …
Frontonasal dysplasia: analysis of 21 cases and literature review.
Guion-Almeida ML, Richieri-Costa A, Saavedra D, Cohen MM Jr. Guion-Almeida ML, et al. Int J Oral Maxillofac Surg. 1996 Apr;25(2):91-7. doi: 10.1016/s0901-5027(96)80048-8. Int J Oral Maxillofac Surg. 1996. PMID: 8727576 Review.
Twenty-one patients with frontonasal dysplasia were studied. A 2:1 male-to-female sex ratio and increased paternal and maternal ages at the time of conception were found. ...Causal genesis includes a dominantly inherited form, dup(2q), and autosomal recessive Shansk …
Twenty-one patients with frontonasal dysplasia were studied. A 2:1 male-to-female sex ratio and increased paternal and materna …
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. Lehalle D, et al. Am J Med Genet A. 2022 Jul;188(7):2036-2047. doi: 10.1002/ajmg.a.62739. Epub 2022 Apr 21. Am J Med Genet A. 2022. PMID: 35445792 Review.
We set up a research project aiming to identify the molecular bases of PS. We reviewed 27 individuals presenting with a syndromic frontonasal polyp and initially referred for PS. Based on strict clinical classification criteria, we could confirm only nine (33%) typical and …
We set up a research project aiming to identify the molecular bases of PS. We reviewed 27 individuals presenting with a syndromic fronton …
Acromelic frontonasal dysostosis.
Slaney SF, Goodman FR, Eilers-Walsman BL, Hall BD, Williams DK, Young ID, Hayward RD, Jones BM, Christianson AL, Winter RM. Slaney SF, et al. Am J Med Genet. 1999 Mar 12;83(2):109-16. Am J Med Genet. 1999. PMID: 10190481 Review.
We report on 3 male and 2 female infants with acromelic frontonasal dysostosis. All 5 had a frontonasal malformation of the face and nasal clefting associated with striking symmetrical preaxial polysyndactyly of the feet and variable tibial hypoplasia. In contrast, …
We report on 3 male and 2 female infants with acromelic frontonasal dysostosis. All 5 had a frontonasal malformation of the fa …
Teratogens and craniofacial malformations: relationships to cell death.
Sulik KK, Cook CS, Webster WS. Sulik KK, et al. Development. 1988;103 Suppl:213-31. doi: 10.1242/dev.103.Supplement.213. Development. 1988. PMID: 3074910 Review.
The relationship of hypoxia-induced cell death to energy requirements is being explored. Acute treatment with methotrexate results in frontonasal dysplasia (median facial clefts). Combined effects of fluid imbalance, lack of proliferation or death of frontonasal …
The relationship of hypoxia-induced cell death to energy requirements is being explored. Acute treatment with methotrexate results in fro …
32 results