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Published manuscripts on Langer Giedion Syndrome before 1995 with links to the NCBI PubMed Database. Last updated 10/00.

• Takemura T, et al. (1994) A case of Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II) associated with epilepsy. No To Hattatsu. 26(5): 434-438.

• Loria et al., (1994) The Langer-Giedion syndrome (TRP 2). A case report.Radiol Med87(4):537-539.

• Yoshiura et al. (1993) Mapping of the bone morphogenetic protein 1 gene (BMP1) to 8p21: removal of BMP1 from candidacy for the bone disorder in Langer-Giedion syndrome. Cytogenet Cell Genet 64: 208-9.

• Le Merrer M, et al. (1992) The gene for hereditary multiple exostoses does not map to the Langer-Giedion region (8q23-q24). J Med Genet. 29(10): 713-715.

• Hirota T, et al. (1992) Microdissection of human chromosomal regions 8q23.3-q24.11 and 2q33-qter: construction of DNA libraries and isolation of their clones. Genomics. 13(2): 349-354.

• Mehta L, et al. (1992) The tricho-rhino-phalangeal syndromes I and II. Indian J Pediatr. 59(3): 373-377.

• Bauermeister S, et al. (1992) The orthopaedic manifestations of the Langer-Giedion syndrome. Orthop Rev. 21(1): 31-35.

• Ramos et al. (1992) Tricho-rhino-phalangeal syndrome type II (Langer-Giedion) with persistent cloacaand prune belly sequence in a girl with 8q interstitial deletion. Am J Med Genet 44: 790-4.

• Partington MW, et al. (1991) Haematometra in the Langer-Giedion syndrome. J Med Genet. 28(9): 644-645.

• Parrish et al. (1991) Molecular analysis of overlapping chromosomal deletions in patients with Langer-Giedion syndrome. Genomics 11: 54-61.

• Ludecke et al. (1991) Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome. Am J Hum Genet 49: 1197-206.

• Ogle et al. (1991) Multiple exostoses in a patient with t(8;11)(q24.11;p15.5). J Med Genet 28: 881-3.

• Grover SC, et al. (1989) Intellectual competence in a girl with Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II). Am J Med Genet. 34(3): 456-457.

• Ludecke HJ, et al. (1989) Maternal origin of a de novo chromosome 8 deletion in a patient with Langer-Giedion syndrome. Hum Genet. 82(4): 327-329.

• Yamamoto Y, et al. (1989) Prometaphase chromosomes in the tricho-rhino-phalangeal syndrome type I. Am J Med Genet. 32(4): 524-527.

• Yamamoto Y, et al. (1989) Tricho-rhino-phalangeal syndrome type I with severe mental retardation due to interstitial deletion of 8q23.3-24.13. Am J Med Genet. 32(1): 133-135.

• Sato et al. (1989) Familial mental retardation associated with balanced chromosome rearrangement rcp t(8;11)(q24.3;p15.1). J Med Genet 26: 642-4.

• Ludecke et al. (1989) Maternal origin of a de novo chromosome 8 deletion in a patient with Langer-Giedionsyndrome. Hum Genet 82: 327-9.

• Fennell et al. (1989)Partial deletion 8q without Langer-Giedion syndrome: a recognisable syndrome. J Med Genet 26: 167-71.

• Stabile M, et al. (1988) Report of three cases with tricho-rhino-phalangeal syndrome type I (two cases) and type II (one case). Australas Radiol. 32(3): 338-342.

• Vaidya VU, et al. (1988) Langer Giedion syndrome. Indian Pediatr. 25(1): 99-101.

• Wordsworth et al. (1988) Structural and segregation analysis of the type II collagen gene (COL2A1) in some heritable chondrodysplasias. J Med Genet 25: 521-7.

• Okuno T, et al. (1987) Langer Giedion syndrome with del 8 (q24.13-q24.22). Clin Genet. 32(1): 40-45.

• Naselli A, et al. (1987) The trichorhinophalangeal syndrome with exostoses. Description of a case. Minerva Pediatr. 39(1-2): 25-31.

• Zaletaev et al. (1987) Langer-Giedion syndrome and deletion in the long arm of chromosome 8. Genetika 23: 907-12.

• Buhler et al. (1987) A final word on the tricho-rhino-phalangeal syndromes. Clin Genet 31: 273-5.

• Kazukawa S, et al. (1986) Interstitial deletion of the long arm of chromosome 8 without Langer-Giedion syndrome. Jpn J Psychiatry Neurol. 40(2): 221-226.

• Brocas et al. (1986) Integrity of the thyroglobulin locus in tricho-rhino-phalangeal syndrome II. Hum Genet 74: 178-80.

• Shabtai F, et al. (1985) Familial syndrome with some features of the Langer-Giedion syndrome, and paracentric inversion of chromosome 8, inv 8 (q11.23----q21.1). Clin Genet. 27(6): 600-605.

• Bowen et al. (1985) The critical segment for the Langer-Giedion syndrome: 8q24.11----q24.12. Ann Genet 28: 224-7.

• Schwartz et al. (1985) A complex rearrangement, including a deleted 8q, in a case of Langer-Giedion syndrome. Clin Genet 27: 175-82.

• Langer et al. (1985) The tricho-rhino-phalangeal syndrome with exostoses (or Langer-Giedion syndrome):four additional patients without mental retardation and review of the literature. Am J Med Genet 19: 81-112.

• Buhler EM, et al. (1984) The tricho-rhino-phalangeal syndrome(s): chromosome 8 long arm deletion: is there a shortest region of overlap between reported cases? TRP I and TRP II syndromes: are they separate entities? Am J Med Genet. 19(1): 113-119.

• Rivera H, et al. (1983) Del (8) (q212q2200) de novo in a boy without Langer-Giedion syndrome. J Genet Hum. 31 Suppl 5: 413-418.

• Bohles H, et al. (1983) Pseudohypohyperparathyroidism with the phenotype of the tricho-rhino-phalangeal syndrome. Klin Padiatr. 195(2): 117-120.

• Fryns et al. (1983) Langer-Giedion syndrome and deletion of the long arm of chromosome 8. Confirmationof the critical segment to 8q23. Hum Genet 64: 194-5.

• Buhler et al. (1983) Terminal or interstitial deletion in chromosome 8 long arm in Langer-Giedionsyndrome (TRP II syndrome)? Hum Genet 64: 163-6.

• Fukushima et al. (1983) Two cases of the Langer-Giedion syndrome with the same interstitial deletion of the long arm of chromosome 8: 46, XY or XX, del (8) (q23.3q24.13). Hum Genet 64: 90-3.

• Wilson et al. (1983) Interstitial deletion of 8q. Occurrence in a patient with multiple exostoses and unusual facies. Am J Dis Child 137: 444-8.

• Zaletajev et al. (1983) Langer-Giedion syndrome, in a child with complex structural aberration of chromosome 8. Hum Genet 63: 178-82.

• Gorlin RJ, et al. (1982) No chromosome deletion found on prometaphase banding in two cases of Langer-Giedion syndrome. Am J Med Genet. 13(3): 345-347.

• Frontali M, et al. (1982) "Microcytogenetics" and Langer-Giedion syndrome. J Med Genet. 19(5): 390-391.

• Padmini Urs RA, et al. (1982) Langer - Giedion Syndrome. J Assoc Physicians India. 30(3): 173-174.

• Turleau C, et al. (1982) Langer-Giedion syndrome with and without del 8q. assignment of critical segment to 8q23. Hum Genet. 62(3): 183-187.

• Zabel et al. (1982) Langer-Giedion syndrome with interstitial 8q-deletion. Am J Med Genet 11: 353-8.

• Murachi S, et al. (1981) Familial tricho-rhino-phalangeal syndrome Type II. Clin Genet. 19(3): 149-155.

• Fryns JP, et al. (1981) Langer-Giedion syndrome and deletion of the long arm of chromosome 8. Hum Genet. 58(2): 231-232.

• Gericke GS, et al. (1980) The Langer-Giedion phenotype associated with a unique skeletal finding in a mentally retarded adolescent male. A case report. S Afr Med J. 57(14): 548-550.

• Fryns JP, et al. (1980) Tricho-rhino-phalangeal syndrome type II: Langer-Giedion syndrome in a 2.5 years-old boy. J Genet Hum. 28(1): 53-56.

• Pfeiffer (1980) Langer-Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8 46, XY, del 8 (q 13-22). Clin Genet 18: 142-6.

• Buhler et al. (1980) Chromosome deletion and multiple cartilaginous exostoses. Eur J Pediatr 133: 163-6.

• Wilson WG, et al. (1979) The Langer-Giedion syndrome: report of a 22-year old woman. Pediatrics. 64(4): 542-545.

• Oorthuys JW, et al. (1979) The Langer-Giedion-syndrome (tricho-rhino-phalangeal syndrome, type II). Eur J Pediatr. 132(1): 55-59.

• Murachi S, et al. (1979) Tricho-rhino-phalangeal syndrome type II. The Langer-Giedion syndrome. Jinrui Idengaku Zasshi. 24(1): 27-36.

• Stoltzfus E, et al. (1977) Langer-Giedion syndrome: type II tricho-rhino-phalangeal dysplasia. J Pediatr. 91(2): 277-280.

• Verona R, et al. (1974) Giedion's syndrome. Description of a case with review of literature. Minerva Pediatr. 26(6): 313-322.

• Hall BD, et al. (1974) Langer-Giedion syndrome. Birth Defects Orig Artic Ser. 10(12): 147-164.

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