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1968 10
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1986 16
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1988 20
1989 15
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1992 20
1993 13
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2008 80
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2011 128
2012 123
2013 130
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3,287 results

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Page 1
Thauvin-Robinet-Faivre Syndrome: A FIBP Variant in an Adolescent with Segmental Overgrowth and Thyroid Carcinoma.
Siraz UG, Koçak Göl D, Rohlfs M, Klein C, Unal E. Siraz UG, et al. J Clin Res Pediatr Endocrinol. 2025 Mar 18. doi: 10.4274/jcrpe.galenos.2025.2024-10-12. Online ahead of print. J Clin Res Pediatr Endocrinol. 2025. PMID: 40099975 Free article.
In this article, we present a case of Thauvin-Robinet-Faivre Syndrome (TROFAS) in a 16-year-old girl, diagnosed with homozygous NM_004214.5 c.412-3_415dup (p.Asp139AIafsTer3) variant in the FIBP gene. ...
In this article, we present a case of Thauvin-Robinet-Faivre Syndrome (TROFAS) in a 16-year-old girl, diagnosed with homozygous NM_00 …
New cases of recently described Thauvin-Robinet-Faivre syndrome with a novel homozygous FIBP gene variant.
Kılıç E, Koşukcu C. Kılıç E, et al. Am J Med Genet A. 2024 Mar;194(3):e63449. doi: 10.1002/ajmg.a.63449. Epub 2023 Oct 24. Am J Med Genet A. 2024. PMID: 37876348
Thauvin-Robinet-Faivre syndrome (#617107) is a rare autosomal recessive overgrowth syndrome characterized by intellectual disability, facial dysmorphism, macrocephaly, and variable congenital malformations. ...Embryonic tumors are especially common in these syndromes. Thau …
Thauvin-Robinet-Faivre syndrome (#617107) is a rare autosomal recessive overgrowth syndrome characterized by intellectual disability, …
Expanding the phenotype and genotype in Thauvin-Robinet-Faivre syndrome: A new patient with a novel variant and additional clinical findings.
Duzenli T, Sezer A, Kayhan G, Arslan AT, Percin FE. Duzenli T, et al. Am J Med Genet A. 2023 Aug;191(8):2232-2239. doi: 10.1002/ajmg.a.63300. Epub 2023 May 23. Am J Med Genet A. 2023. PMID: 37218527
Thauvin-Robinet-Faivre syndrome (TROFAS; OMIM #617107) is a rare autosomal recessive overgrowth syndrome characterized by generalized overgrowth, dysmorphic facial features, and delayed psychomotor development caused by biallelic pathogenic variants in the FGF-1 intracellu …
Thauvin-Robinet-Faivre syndrome (TROFAS; OMIM #617107) is a rare autosomal recessive overgrowth syndrome characterized by generalized …
Expanding the knowledge about Thauvin-Robinet-Faivre syndrome: a case report with novel clinical findings and review of the literature.
Cosentino A, D'Orazio F, Magnato R, Berger W. Cosentino A, et al. J Appl Genet. 2025 Jun 19. doi: 10.1007/s13353-025-00984-2. Online ahead of print. J Appl Genet. 2025. PMID: 40536757
This case report expands the phenotypic spectrum of Thauvin-Robinet-Faivre syndrome (TROFAS, OMIM #617107), a rare autosomal recessive disorder caused by biallelic loss-of-function mutations in the FIBP gene. ...
This case report expands the phenotypic spectrum of Thauvin-Robinet-Faivre syndrome (TROFAS, OMIM #617107), a rare autosomal recessiv …
Letter to the Editor regarding "New cases of recently described Thauvin-Robinet-Faivre syndrome with a novel homozygous FIBP gene variant" by Kilic and Kosukcu, "An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant" by Yuksel Ulker et al. and "Expanding the phenotype and genotype in Thauvin-Robinet-Faivre syndrome: A new patient with a novel variant and additional clinical findings" by Duzenli et al.
Duzenli T, Sezer A, Percin FE. Duzenli T, et al. Am J Med Genet A. 2024 Apr;194(4):e63507. doi: 10.1002/ajmg.a.63507. Epub 2023 Dec 15. Am J Med Genet A. 2024. PMID: 38102793 No abstract available.
[Impact of diet on chronic kidney disease evolution].
Faivre A, Dalga D, Consoli I, Kosinksi C, De Seigneux S, Collet TH, Saudan P. Faivre A, et al. Rev Med Suisse. 2025 Feb 26;21(907):388-392. doi: 10.53738/REVMED.2025.21.907.388. Rev Med Suisse. 2025. PMID: 40012426 Review. French.
Hepatic Artery Aneurysm Causing Biliary Compression.
El Ouardi W, El Mansoury FZ, Claude G, Briot C, Faivre M. El Ouardi W, et al. ACG Case Rep J. 2024 Mar 22;11(3):e01300. doi: 10.14309/crj.0000000000001300. eCollection 2024 Mar. ACG Case Rep J. 2024. PMID: 38524257 Free PMC article.
3,287 results