The Wells Lab
LGS/TRPS II Reference Page.

Published manuscripts on Langer Giedion Syndrome with links to the NCBI PubMed Database. Last updated 9/03.

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

• Wuyts et al. (2002) Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion. Am J Med Genet. 113:326-32.

• Feely et al. (2002) Cytogenetic and molecular cytogenetic evidence of recurrent 8q24.1 loss in osteochondroma.. Cancer Genet Cytogenet. 137:102-7.

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

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

• Batania et al. (2001) Familial deletion of (8)(q24.13q24.22) associated with a normal phenotype. Clin Genet. 60:371-3

• Wakui and Fukushima (2001) Tricho-rhino-phalangeal syndrome, type II Ryoikibetsu Shokogun Shirizu. 34 (Pt 2):755-6. [Article in Japanese]

• Hilton et al. (2001) An integrated physical map of 8q22-q24: use in positional cloning and deletion analysis of Langer-Giedion syndrome. Genomics. 71:192-9

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

• Lambie et al. (2000) Trichorhinophalangeal syndrome type II: case report. East Afr Med J 2000. 77(1):57-9.

• Kishino and Niikawa (2000) Contiguous gene syndromes Ryoikibetsu Shokogun Shirizu. 30 (Pt 5):118-22. [Article in Japanese]

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

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

• 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.

• Fukushima (2000) Langer-Giedion syndrome(tricho-rhino-phalangeal syndrome, type II; TRPS II)]. Ryoikibetsu Shokogun Shirizu. (30 Pt 5):203-4. [Article in Japanese]

• Ludecke et al. (1999) Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8. Hum Genet 1999. 105(6):619-28.

• Sinzig et al. (1999) Langer-Giedion syndrome associated with scimitar syndrome. Pediatr Radiol. 29(3):218-20.

• Stevens and Moore (1999) Tibial hemimelia in Langer-Giedion syndrome-possible gene location for tibial hemimelia at 8q. Am J Med Genet. 85(4):409-412.

• Tiberio et al. (1999) Langer-Giedion syndrome. A patient without mental retardation and a large 8q23.2-q24.22 deletion. Minerva Pediatr. 51(9-10):313-8.

• Morioka et al. (1999) Langer-Giedion syndrome associated with submucous cleft palate. Plast Reconstr Surg. 103(5):1458-63.

• 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.

• Fryns (1997) Trichorhinophalangeal syndrome type 2: another syndromic form of hydrometrocolpos. Am J Med Genet 73(2):233.

• Hill et al. (1997) Assignment of fragile site 8E (FRA8E) to human chromosome band 8q24.11 adjacent to the hereditary multiple exostoses 1 gene and two overlapping Langer-Giedion syndrome deletion endpoints.Cytogenet Cell Genet 78(1):56-57.

• Schuind et al. (1997) Lunatomalacia associated with congenital shortening of the ulna in Langer-Giedion syndrome: a case report. J Hand Surg [Am]. 22(3): 404-407.

• Vantrappen et al. (1997) Conductive hearing loss in the tricho-rhino-phalangeal syndrome (TRP II) or in the Langer-Giedion syndrome. Am J Med Genet72(3):372-373.

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

• Lu et al. (1997)Tricho-rhino-phalangeal syndrome type II associated with epiglottic aplasia and congenital nephrotic syndrome. J Formos Med Assoc 96: 217-221.

• 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.

• 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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