Literature DB >> 466854

Partial trisomy 1q due to tandem duplication.

S Flatz, C Fonatsch.   

Abstract

Mesh：

Year:  1979        PMID： 466854     DOI： 10.1111/j.1399-0004.1979.tb00839.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  11 in total

1.  Detection of a de novo duplication of 1q32-qter by fluorescence in situ hybridisation in a boy with multiple malformations: further delineation of the trisomy 1q syndrome.

Authors:  H C Duba; M Erdel; J Löffler; L Bereuther; H Fischer; B Utermann; G Utermann
Journal:  J Med Genet       Date:  1997-04       Impact factor: 6.318

2.  Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1.

Authors:  Mohammed Naveed; Swapan K Nath; Mathew Gaines; Mahmoud T Al-Ali; Najib Al-Khaja; David Hutchings; Jeffrey Golla; Samuel Deutsch; Armand Bottani; Stylianos E Antonarakis; Uppala Ratnamala; Uppala Radhakrishna
Journal:  Am J Hum Genet       Date:  2006-11-29       Impact factor: 11.025

3.  Duplication-deletion with partial trisomy lq and partial monosomy 3p resulting from a maternal reciprocal translocation rcp (1;3) (q32;p25).

Authors:  A Schinzel
Journal:  J Med Genet       Date:  1981-02       Impact factor: 6.318

4.  Terminal deletion with stable acentric fragment of 1q in a child with congenital malformations.

Authors:  M Kucerová; Z Polívková; S Dluholucký; M Kvasnicová
Journal:  Am J Hum Genet       Date:  1983-01       Impact factor: 11.025

5.  Proteinuric glomerulopathy in an adolescent with a distal partial trisomy chromosome 1.

Authors:  Takaya Sasaki; Masahiro Okabe; Takeshi Tosaki; Yu Honda; Masahiro Ishikawa; Nobuo Tsuboi; Takashi Yokoo
Journal:  CEN Case Rep       Date:  2018-05-16

6.  Confirmation of a de novo duplication, dup(10)(q24 leads to q26), by GOT1 gene dosage studies.

Authors:  D J Tomkins; B J Gitelman; M H Roberts
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

7.  Partial 1q Duplications and Associated Phenotype.

Authors:  Marcos L M Morris; José E Baroneza; Patricia Teixeira; Cristina T N Medina; Mara S Cordoba; Beatriz R Versiani; Liege L Roese; Erika L Freitas; Ana C S Fonseca; Maria C G Dos Santos; Aline Pic-Taylor; Carla Rosenberg; Silviene F Oliveira; Iris Ferrari; Juliana F Mazzeu
Journal:  Mol Syndromol       Date:  2016-02-04

8.  De novo duplication 1q32-q42: variability of phenotypic features in partial lq trisomics.

Authors:  M S Lungarotti; A Falorni; A Calabro; F Passalacqua; B Dallapiccola
Journal:  J Med Genet       Date:  1980-10       Impact factor: 6.318

9.  Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-up.

Authors:  Vera Ayres Meloni; Sylvia Satomi Takeno; Ana Luiza Pilla; Claudia Berlim de Mello; Maria Isabel Melaragno; Leslie Domenici Kulikowski
Journal:  Mol Cytogenet       Date:  2014-08-22       Impact factor: 2.009

10.  Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings.

Authors:  Aixiang Luo; Dehua Cheng; Shimin Yuan; Haiyu Li; Juan Du; Yang Zhang; Chuanchun Yang; Ge Lin; Wenyong Zhang; Yue-Qiu Tan
Journal:  Mol Cytogenet       Date:  2018-04-04       Impact factor: 2.009
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