Literature DB >> 11303510

Pure partial 7p trisomy including the TWIST, HOXA, and GLI3 genes.

A Mégarbané, M Le Lorc'H, H Elghezal, G Joly, N Souraty, L Samaras, M Prieur, M Vekemans, C Turleau, S P Romana.   

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Year:  2001        PMID： 11303510      PMCID： PMC1734838          DOI： 10.1136/jmg.38.3.178

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


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  8 in total

Review 1.  Cardiac malformation of partial trisomy 7p/monosomy 18p and partial trisomy 18p/monosomy 7p in siblings as a result of reciprocal unbalanced malsegregation--and review of the literature.

Authors:  Beate Schmidt; Floris Udink ten Cate; Michael Weiss; Udo Koehler
Journal:  Eur J Pediatr       Date:  2012-07       Impact factor: 3.183

2.  Greater trochanteric stippling in trisomy 7p.

Authors:  Justin R Wilde; Rita L Teele; Salim Aftimos
Journal:  Pediatr Radiol       Date:  2006-06-07

3.  Partial trisomy and partial monosomy resulting from a reciprocal segregating in a large family.

Authors:  Gopalrao V N Velagaleti; Judy C Hawkins; Neli I Panova; Lillian H Lockhart
Journal:  Indian J Pediatr       Date:  2008-09       Impact factor: 1.967

4.  De Novo Duplication of 7p21.1p22.2 in a Child with Autism Spectrum Disorder and Craniofacial Dysmorphism.

Authors:  Achandira M Udayakumar; Watfa Al-Mamari; Abeer Al-Sayegh; Adila Al-Kindy
Journal:  Sultan Qaboos Univ Med J       Date:  2015-08-24

5.  Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion.

Authors:  Morten Dunø; Hanne Hove; Maria Kirchhoff; Koenraad Devriendt; Marianne Schwartz
Journal:  Hum Genet       Date:  2004-09-18       Impact factor: 4.132

6.  De novo 7p partial trisomy characterized by subtelomeric FISH and whole-genome array in a girl with mental retardation.

Authors:  Aswini S; Venkata O Padmalatha; Saranya G; Durgadatta T; Raseswari T; Kanakavalli M Kulashekaran; Meena J; Chandra N; Lalji S; Lakshmi R Kandukuri
Journal:  Mol Cytogenet       Date:  2011-10-03       Impact factor: 2.009

7.  Case of 7p22.1 Microduplication Detected by Whole Genome Microarray (REVEAL) in Workup of Child Diagnosed with Autism.

Authors:  Veronica Goitia; Marcial Oquendo; Robert Stratton
Journal:  Case Rep Genet       Date:  2015-03-29

8.  New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements.

Authors:  Vanessa Luiza Romanelli Tavares; Sofia Ligia Guimarães-Ramos; Yan Zhou; Cibele Masotti; Suzana Ezquina; Danielle de Paula Moreira; Henk Buermans; Renato S Freitas; Johan T Den Dunnen; Stephen R F Twigg; Maria Rita Passos-Bueno
Journal:  J Med Genet       Date:  2021-11-08       Impact factor: 5.941
  8 in total

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