Wells Lab
TRPS I Reference Page.

Published manuscripts on Tricho-rhino-phalangeal Syndrome Type I with links to the NCBI Entrez Database. Last updated 6/04.

• Kaiser et al. (2004) Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal. Eur J Hum Genet. 12(2):121-6.

• Kamoda and Matsui. (2003) Tricho-rhino-phalangeal syndrome type I in a Japanese boy. Eur J Pediatr. 162(11):810-1. No abstract available.

• McCarty et al. (2003) Selective dimerization of a C2H2 zinc finger subfamily. Mol Cell 11: 459-70.

• Kaiser et al. (2003) Nuclear interaction of the dynein light chain LC8a with the TRPS1 transcription factor suppresses the transcriptional repression activity of TRPS1. Hum Mol Genet. 12: 1349-58.

• Gentile et al. (2003) A novel mutation in exon 7 in a family with mild tricho-rhino-phalangeal syndrome type I. Clin Genet. 63: 166-7.

• Rallis et al. (2002) Orthognathic surgery for trichorhinophalangeal syndrome type I. Plast Reconstr Surg. 109(7):2599-600. No abstract available.

• Kunath et al. (2002) Expression of Trps1 during mouse embryonic development. Mech Dev. 119 Suppl 1:S117-20.

• Kunath et al. (2002) Expression of Trps1 during mouse embryonic development. Gene Expr Patterns. 2: 119-22.

• Malik et al. (2002) Deletion of the GATA domain of TRPS1 causes an absence of facial hair and provides new insights into the bone disorder in inherited tricho-rhino-phalangeal syndromes. Mol Cell Biol 22: 8592-600.

• Hilton et al. (2002) Analysis of novel and recurrent mutations responsible for the tricho-rhino-phalangeal syndromes. J Hum Genet. 47: 103-6.

• Kobayashi et al. (2002) Missense mutation of TRPS1 in a family of tricho-rhino-phalangeal syndrome type III. Am J Med Genet 107: 26-9.

• Shin and Chang. (2001) Trichorhinophalangeal syndrome, type II (Langer-Giedion syndrome). Dermatol Online J. 7(2):8.

• Seitz et al. (2001) Trichorhinophalangeal syndrome type I: clinical and molecular characterization of 3 members of a family and 1 sporadic case. Arch Dermatol 137: 1437-42

• Ning et al. (2001) Clinical characteristics of tricho-rhino-phalangeal syndrome type I in Taiwanese. J Formos Med Assoc. 100: 635-8.

• Ludecke et al. (2001) Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. Am J Hum Genet. 68: 81-91.

• Gassel et al. (2001) [Orthopedic considerations of trichorhinophalangeal syndrome type II] Klin Padiatr. 213(6):334-7. [Article in German]

• Ishii (2001) [Tricho-rhino-phalangeal syndrome, type I] Ryoikibetsu Shokogun Shirizu. 34 Pt 2: 752-4. [Article in Japanese]

• Hatamura (2001) A nonsense mutation in TRPS1 in a Japanese family with tricho-rhino-phalangeal syndrome type I. Clin Genet. 59: 366-7.

• Makita (2001) [Tricho-rhino-phalangeal syndrome, type III] Ryoikibetsu Shokogun Shirizu. (34 Pt 2):757-8. Review. No abstract available. [Article in Japanese]

• Wakui and Fukushima (2001) [Tricho-rhino-phalangeal syndrome, type II] Ryoikibetsu Shokogun Shirizu. (34 Pt 2):755-6. Review. No abstract available. [Article in Japanese]

• Malik (2001) Transcriptional repression and developmental functions of the atypical vertebrate GATA protein TRPS1.. EMBO J. 20: 1715-25.

• Poyanmehr et al. (2001) Guess what! Tricho-rhino-phalangeal syndrome type 1. Eur J Dermatol. 11: 385-7.

• Schacht et al. (2001) Trichorhinophalangeal syndrome. Case report and biophysical study of hair shaft parameters Hautarzt. 52: 51-5. [Article in German]

• McGuire (2000) Trichorhinophalangeal syndrome: evolution of Perthes-like changes in the hips. Orthopedics 23: 855-6.

• Vaccaro (2000) Guess what? Trichlorhinophalangeal syndrome type I B. Eur J Dermatol. 10: 233-4.

• Johnson et al. (2000) Unusual and memorable. TRPS type I. Trichorhinophalangeal syndrome. Ann Rheum Dis. 58: 594.

• Morioka and Hosaka (2000) Aesthetic and plastic surgery for trichorhinophalangeal syndrome. Aesthetic Plast Surg. 24: 39-45.

• Momeni et al. (2000) Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I. Nat Genet 1999. 24(1):71-4.

• Paterson et al. (2000) Abnormal modelling of the humeral head in the tricho-rhino-phalangeal syndrome: a new radiological observation. Australas Radiol 2000. 44(3):325-7.

• Schmidt et al. (1999) The EIF3S3 gene encoding the p40 subunit of the translation initiation factor eIF3 has eight exons and maps to the Langer-Giedion syndrome chromosome region on 8q24, but is not the TRPS1 gene. Hum Genet 1999. 105(6):662-4.

• Naselli et al. (1998) Trichorhinophalangeal syndrome type I in monozygotic twins discordant for hip pathology. Report on the morphological evolution of cone-shaped epiphyses and the unusual pattern of skeletal maturation. Pediatr Radiol. Dis. 28: 851-5.

• George et al. (1998) Trichorhinophalangeal syndrome type I. J Eur Acad Dermatol Venereol. 11(1):66-8.

• Herman et al. (1997) Erratum: metachondromatosis: report of a family with facial features mildly resembling trichorhinophalangeal syndrome (Pediatr radiol (1997) 27: 436-441). Pediatr Radiol. 27(11): 864.

• Brandt et al. (1997) A de nevo complex t(7;13;8) translocation with a deletion in the TRPS gene region. Hum Genet 100(3-4):334-338.

• Machuca et al. (1997) Craniofacial and oral manifestations of trichorhinophalangeal syndrome type I (Giedion's syndrome): a case report. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 84(1): 35-39.

• Sasaki et al. (1997)A 4 Mb cryptic deletion associated with inv(8)(q13.1q24.11) in a patient with trichorhinophalangeal syndrome type I Journal of Medical Genetics 34: 335-339.

• Nardmann et al. (1997)The tricho-rhino-phalangeal syndromes: frequency and parental origin of 8q deletions. Human Genetics 99: 638-643.

• Nemtsova et al. (1996) Molecular-genetic characteristics of the deleted region of chromosome 8q24.1 in Langer-Giedion and tricho-rhino-phalangeal type I syndromes. Genetika. 32(7): 978-984.

• Gu et al. (1996) Detection of a megabase deletion in a patient with branchio-oto-renal syndrome (BOR) and tricho-rhino-phalangeal syndrome (TRPS): implications for mapping and cloning the BOR geneGenomics 31: 201-6.

• Eroglu et al. (1996)Tricho-rhino-phalangeal syndrome type I. Turk J Pediatr 38(4):537-542 .

• Dunbar et al. (1995) Hip pathology in the trichorhinophalangeal syndrome. J Pediatr Orthop. 15(3): 381-385.

• Boni et al. (1995) Trichorhinophalangeal syndrome. Dermatology. 190(2): 152-155.

• Hou et al. (1995) A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1). Genomics 29: 87-97.

• Ludecke et al. (1995) Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome. Hum Mol Genet. 4: 31-36.

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