Literature DB >> 33936330

Lessons learned from a child with a chromosomal abnormality but no major congenital anomalies.

Shijie Zhou1, Samantha Colaiacovo2, Andrea Djolovic3, Maha Saleh2,3.   

Abstract

Entities:  

Year:  2020        PMID： 33936330      PMCID： PMC8077198          DOI： 10.1093/pch/pxaa080

Source DB:  PubMed          Journal:  Paediatr Child Health        ISSN： 1205-7088            Impact factor:   2.253


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  6 in total

1.  Karyotype-phenotype analysis and molecular delineation of a 3p26 deletion/8q24.3 duplication case with a virtually normal phenotype and mild cognitive deficit.

Authors:  Antony E Shrimpton; Kimberly A Jensen; Joe J Hoo
Journal:  Am J Med Genet A       Date:  2006-02-15       Impact factor: 2.802

2.  A terminal 3p26.3 deletion is not associated with dysmorphic features and intellectual disability in a four-generation family.

Authors:  Setareh Moghadasi; Arie van Haeringen; Lieke Langendonck; Antoinet C J Gijsbers; Claudia A L Ruivenkamp
Journal:  Am J Med Genet A       Date:  2014-08-13       Impact factor: 2.802

3.  Array-CGH study of partial trisomy 9p without mental retardation.

Authors:  Inesse Ben Abdallah Bouhjar; Hanane Hannachi; Soumaya Mougou Zerelli; Audrey Labalme; Abir Gmidène; Najla Soyah; Sonia Missaoui; Damien Sanlaville; Hatem Elghezal; Ali Saad
Journal:  Am J Med Genet A       Date:  2011-05-27       Impact factor: 2.802

4.  Developing standards for chromosomal microarray testing counselling in paediatrics.

Authors:  Emma Godfrey; Phillipa Clark
Journal:  Acta Paediatr       Date:  2014-03-17       Impact factor: 2.299

5.  Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey.

Authors:  M Lefebvre; D Sanlaville; N Marle; C Thauvin-Robinet; E Gautier; S E Chehadeh; A-L Mosca-Boidron; J Thevenon; P Edery; M-P Alex-Cordier; M Till; S Lyonnet; V Cormier-Daire; J Amiel; A Philippe; S Romana; V Malan; A Afenjar; S Marlin; S Chantot-Bastaraud; P Bitoun; B Heron; E Piparas; F Morice-Picard; S Moutton; N Chassaing; A Vigouroux-Castera; J Lespinasse; S Manouvrier-Hanu; O Boute-Benejean; C Vincent-Delorme; F Petit; N L Meur; M Marti-Dramard; A-M Guerrot; A Goldenberg; S Redon; C Ferrec; S Odent; C L Caignec; S Mercier; B Gilbert-Dussardier; A Toutain; S Arpin; S Blesson; I Mortemousque; E Schaefer; D Martin; N Philip; S Sigaudy; T Busa; C Missirian; F Giuliano; H K Benailly; P K V Kien; B Leheup; C Benneteau; L Lambert; R Caumes; P Kuentz; I François; D Heron; B Keren; E Cretin; P Callier; S Julia; L Faivre
Journal:  Clin Genet       Date:  2016-01-04       Impact factor: 4.438

6.  Duplication 9p and their implication to phenotype.

Authors:  Roberta Santos Guilherme; Vera Ayres Meloni; Ana Beatriz Alvarez Perez; Ana Luiza Pilla; Marco Antonio Paula de Ramos; Anelisa Gollo Dantas; Sylvia Satomi Takeno; Leslie Domenici Kulikowski; Maria Isabel Melaragno
Journal:  BMC Med Genet       Date:  2014-12-20       Impact factor: 2.103
  6 in total

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