Literature DB >> 6842549

De novo tandem duplication 17p11 leads to cen.

Z Docherty, M A Hultén, M M Honeyman.   

Abstract

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Year:  1983        PMID： 6842549      PMCID： PMC1049020          DOI： 10.1136/jmg.20.2.138

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  6 in total

1.  An extra small metacentric chromosome identified as a deleted chromosome no. 17.

Authors:  W Palutke; H Chen; P Woolley; C Espiritu; H L Vogel; N Gohle; M Tyrkus
Journal:  Clin Genet       Date:  1976-05       Impact factor: 4.438

2.  Partial duplication of 17p. A new chromosomal syndrome.

Authors:  M Bartsch-Sandhoff; G Hieronimi
Journal:  Hum Genet       Date:  1979-06-19       Impact factor: 4.132

3.  Trisomy of the short arm of chromosome 17.

Authors:  E Latta; J J Hoo
Journal:  Humangenetik       Date:  1974

4.  A case of partial trisomy 17 resulting from X-autosomal translocation.

Authors:  Y Yamamoto; Y Endo; Y Kuroki
Journal:  J Med Genet       Date:  1979-10       Impact factor: 6.318

5.  Pure trisomy 17p in 60% cells.

Authors:  F Shabtai; A Shalev; J Chemke; I Halbrecht; E Elian
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

6.  The production of micronuclei from chromosome aberrations in irradiated cultures of human lymphocytes.

Authors:  P I Countryman; J A Heddle
Journal:  Mutat Res       Date:  1976-12       Impact factor: 2.433
  6 in total
  4 in total

1.  Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.

Authors:  Lorraine Potocki; Weimin Bi; Diane Treadwell-Deering; Claudia M B Carvalho; Anna Eifert; Ellen M Friedman; Daniel Glaze; Kevin Krull; Jennifer A Lee; Richard Alan Lewis; Roberto Mendoza-Londono; Patricia Robbins-Furman; Chad Shaw; Xin Shi; George Weissenberger; Marjorie Withers; Svetlana A Yatsenko; Elaine H Zackai; Pawel Stankiewicz; James R Lupski
Journal:  Am J Hum Genet       Date:  2007-02-26       Impact factor: 11.025

2.  A molecular, cytogenetic, and clinical evaluation of mosaic tandem duplication 17p and Charcot-Marie-Tooth type 1A neuropathy.

Authors:  K S Reddy; M B Larsen
Journal:  J Med Genet       Date:  1998-02       Impact factor: 6.318

3.  Small marker chromosomes in two patients with segmental aneusomy for proximal 17p.

Authors:  Christine J Shaw; Pawel Stankiewicz; Gabriel Bien-Willner; Scott C Bello; Chad A Shaw; Marta Carrera; Luis Perez Jurado; Xavier Estivill; James R Lupski
Journal:  Hum Genet       Date:  2004-04-20       Impact factor: 4.132

4.  Charcot-Marie-tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2-->12.

Authors:  M Upadhyaya; S H Roberts; J Farnham; J C MacMillan; A Clarke; J P Heath; I C Hodges; P S Harper
Journal:  Hum Genet       Date:  1993-05       Impact factor: 4.132
  4 in total

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