Literature DB >> 6885052

Terminal or interstitial deletion in chromosome 8 long arm in Langer-Giedion syndrome (TRP II syndrome)?

E M Bühler, U K Bühler, R Christen.   

Abstract

Reexamination with high resolution banding of the first ever published case of Langer-Giedion syndrome with 8q deletion as well as chromosome examination of a second case of this syndrome with different high resolution methods, confirmed our previous assumption of a terminal 8q involvement in the causation of TRP II syndrome.

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Year:  1983        PMID： 6885052     DOI： 10.1007/bf00327117

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  17 in total

1.  Langer-Giedion syndrome: type II tricho-rhino-phalangeal dysplasia.

Authors:  E Stoltzfus; R L Ladda; J Lloyd-Still
Journal:  J Pediatr       Date:  1977-08       Impact factor: 4.406

2.  Langer-Giedion syndrome.

Authors:  B D Hall; L O Langer; A Giedion; D W Smith; M M Cohen; R K Beals; M Brandner
Journal:  Birth Defects Orig Artic Ser       Date:  1974

3.  Langer-Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8 46, XY, del 8 (q 13-22).

Authors:  R A Pfeiffer
Journal:  Clin Genet       Date:  1980-08       Impact factor: 4.438

4.  Langer-Giedion syndrome and deletion of the long arm of chromosome 8.

Authors:  J P Fryns; N Logghe; M van Eygen; H Van den Berghe
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

5.  No chromosome deletion found on prometaphase banding in two cases of Langer-Giedion syndrome.

Authors:  R J Gorlin; J Cervenka; B A Bloom; L O Langer
Journal:  Am J Med Genet       Date:  1982-11

6.  "Microcytogenetics" and Langer-Giedion syndrome.

Authors:  M Frontali; M Ramenghi; S Trabace; B Dallapiccola
Journal:  J Med Genet       Date:  1982-10       Impact factor: 6.318

7.  The Langer-Giedion-syndrome (tricho-rhino-phalangeal syndrome, type II).

Authors:  J W Oorthuys; F A Beemer
Journal:  Eur J Pediatr       Date:  1979-09       Impact factor: 3.183

8.  The Langer-Giedion syndrome: report of a 22-year old woman.

Authors:  W G Wilson; R T Herrington; A S Aylsworth
Journal:  Pediatrics       Date:  1979-10       Impact factor: 7.124

9.  Familial tricho-rhino-phalangeal syndrome Type II.

Authors:  S Murachi; H Nogami; T Oki; T Ogino
Journal:  Clin Genet       Date:  1981-03       Impact factor: 4.438

10.  Langer-Giedion syndrome with interstitial 8q-deletion.

Authors:  B U Zabel; W A Baumann
Journal:  Am J Med Genet       Date:  1982-03
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  6 in total

Review 1.  Human chromosome 8.

Authors:  S Wood
Journal:  J Med Genet       Date:  1988-11       Impact factor: 6.318

Review 2.  Microcytogenetics 1984.

Authors:  J de Grouchy; C Turleau
Journal:  Experientia       Date:  1986-10-15

3.  Trichorhinophalangeal syndrome type I and systemic lupus erythematosus with complement C4A homozygous null alleles in the same family.

Authors:  S R Dahlqvist; B Lundström; G Holmgren
Journal:  Ann Rheum Dis       Date:  1989-09       Impact factor: 19.103

4.  Trichorhinophalangeal syndrome type I: symptoms and signs, radiology and genetics.

Authors:  S Noltorp; U L Kristoffersson; N Mandahl; L Stigsson; B Svensson; C O Werner
Journal:  Ann Rheum Dis       Date:  1986-01       Impact factor: 19.103

5.  Integrity of the thyroglobulin locus in tricho-rhino-phalangeal syndrome II.

Authors:  H Brocas; E M Bühler; P Simon; N J Malik; G Vassart
Journal:  Hum Genet       Date:  1986-10       Impact factor: 4.132

Review 6.  Partial deletion 8q without Langer-Giedion syndrome: a recognisable syndrome.

Authors:  S J Fennell; J W Benson; A D Kindley; M J Schwarz; B Czepulkowski
Journal:  J Med Genet       Date:  1989-03       Impact factor: 6.318
  6 in total

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