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1,302 results

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Page 1
Naegeli-Franceschetti-Jadassohn syndrome: a systematic review of case studies.
Shah HH, Hussain T, Subash A, Qadir RA, Meshram YR, Shahzad M, Sultan W, Hadi Z, Ashfaque F, Anas Z, Rauf SA, Waseem R, Hussain MS, Zuberi MAW. Shah HH, et al. Front Med (Lausanne). 2025 Feb 28;12:1453172. doi: 10.3389/fmed.2025.1453172. eCollection 2025. Front Med (Lausanne). 2025. PMID: 40093016 Free PMC article.
INTRODUCTION: Naegeli-Franceschetti-Jadassohn syndrome (NFJS), also known as Naegeli Syndrome, is a rare autosomal dominant ectodermal dysplasia characterized by mutations in the KRT14 gene. ...
INTRODUCTION: Naegeli-Franceschetti-Jadassohn syndrome (NFJS), also known as Naegeli Syndrome, is a rare autosomal dominant ectoderma …
Naegeli-Franceschetti-Jadassohn syndrome in a Saudi Arabian family.
Tubaigy SM, Hassan HM. Tubaigy SM, et al. J Forensic Sci. 2014 Mar;59(2):555-8. doi: 10.1111/1556-4029.12316. Epub 2013 Nov 21. J Forensic Sci. 2014. PMID: 24261749 Review.
Subsequent medical investigations suggested that he and his two brothers displayed most of the features of the Naegeli-Franceschetti-Jadassohn (NFJ) syndrome. These features included skin changes with hypo- and hyperpigmentation, hypohidrosis, dystrophy of the nails, diffu …
Subsequent medical investigations suggested that he and his two brothers displayed most of the features of the Naegeli-Franceschetti- …
Franceschetti syndrome.
Kasat V. Kasat V. Contemp Clin Dent. 2011 Jul;2(3):245-8. doi: 10.4103/0976-237X.86480. Contemp Clin Dent. 2011. PMID: 22090774 Free PMC article.
Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. ...
Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. ...
Naegeli-Franceschetti-Jadassohn Syndrome: A Rare Reticulate Pigmentary Disorder.
Sanodia G, Hulmani M, Kumar VJ. Sanodia G, et al. Indian J Dermatol. 2019 May-Jun;64(3):235-238. doi: 10.4103/ijd.IJD_653_16. Indian J Dermatol. 2019. PMID: 31148864 Free PMC article.
Naegeli-Franceschetti-Jadassohn syndrome is a rare autosomal dominant form of ectodermal dysplasia affecting sweat glands, nails, teeth, and skin. ...
Naegeli-Franceschetti-Jadassohn syndrome is a rare autosomal dominant form of ectodermal dysplasia affecting sweat glands, nails, tee …
A. Franceschetti.
François J. François J. Am J Ophthalmol. 1968 Jul;66(1):134-5. doi: 10.1016/0002-9394(68)91813-8. Am J Ophthalmol. 1968. PMID: 4872988 No abstract available.
Sialidoses.
Franceschetti S, Canafoglia L. Franceschetti S, et al. Epileptic Disord. 2016 Sep 1;18(S2):89-93. doi: 10.1684/epd.2016.0845. Epileptic Disord. 2016. PMID: 27621198 Review.
Franceschetti hereditary recurrent corneal erosion.
Lisch W, Bron AJ, Munier FL, Schorderet DF, Tiab L, Lange C, Saikia P, Reinhard T, Weiss JS, Gundlach E, Pleyer U, Lisch C, Auw-Haedrich C. Lisch W, et al. Am J Ophthalmol. 2012 Jun;153(6):1073-81.e4. doi: 10.1016/j.ajo.2011.12.011. Epub 2012 Mar 7. Am J Ophthalmol. 2012. PMID: 22402249
PURPOSE: To describe new affected individuals of Franceschetti's original pedigree of hereditary recurrent erosion and to classify a unique entity called Franceschetti corneal dystrophy. ...CONCLUSION: We have extended the pedigree of Franceschetti cor …
PURPOSE: To describe new affected individuals of Franceschetti's original pedigree of hereditary recurrent erosion and to clas …
Unverricht-Lundborg disease.
Crespel A, Ferlazzo E, Franceschetti S, Genton P, Gouider R, Kälviäinen R, Korja M, Lehtinen MK, Mervaala E, Simonato M, Vaarmann A. Crespel A, et al. Epileptic Disord. 2016 Sep 1;18(S2):28-37. doi: 10.1684/epd.2016.0841. Epileptic Disord. 2016. PMID: 27582036 Review.
Mandibulofacial Dysostosis.
McElrath AD, Winters R. McElrath AD, et al. 2023 Jul 4. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–. 2023 Jul 4. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–. PMID: 32965901 Free Books & Documents.
The syndrome was described by Berry (1889), Treacher Collins (1900), and Franceschetti and Klein (1949) ergo the names Berry's syndrome and Franceschetti-Zwahlen-Klein syndrome are also used in older literature. Treacher Collins syndrome (TCS) is the more preferred …
The syndrome was described by Berry (1889), Treacher Collins (1900), and Franceschetti and Klein (1949) ergo the names Berry's syndro …
[Stargardt's disease and abiotrophy of Franceschetti (fundus flavimaculatus): pathogenetic, clinical, and molecular genetic characteristics].
Bondarenko MT, Zhorzholadze NV, Sheremet NL, Ronzina IA, Galoian NS, Loginova AN, Chukhrova AL, Poliakov AV. Bondarenko MT, et al. Vestn Oftalmol. 2014 Mar-Apr;130(2):72-6. Vestn Oftalmol. 2014. PMID: 24864504 Review. Russian.
The article presents a review of literature on Stargardt's disease and abiotrophy of Franceschetti. Etiopathogenetic, clinical and molecular genetic characteristics are covered. ...
The article presents a review of literature on Stargardt's disease and abiotrophy of Franceschetti. Etiopathogenetic, clinical and mo …
1,302 results