Literature DB >> 16411192

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

Antony E Shrimpton, Kimberly A Jensen, Joe J Hoo.   

Abstract

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Year:  2006        PMID： 16411192     DOI： 10.1002/ajmg.a.31066

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  4 in total

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

Authors:  Shijie Zhou; Samantha Colaiacovo; Andrea Djolovic; Maha Saleh
Journal:  Paediatr Child Health       Date:  2020-07-28       Impact factor: 2.253

2.  Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children.

Authors:  Cristina Cuoco; Patrizia Ronchetto; Stefania Gimelli; Frédérique Béna; Maria Teresa Divizia; Margherita Lerone; Marisol Mirabelli-Badenier; Monica Mascaretti; Giorgio Gimelli
Journal:  Orphanet J Rare Dis       Date:  2011-04-01       Impact factor: 4.123

3.  Neuronal migration genes and a familial translocation t (3;17): candidate genes implicated in the phenotype.

Authors:  Meriam Hadj Amor; Sarra Dimassi; Amel Taj; Wafa Slimani; Hanene Hannachi; Adnene Mlika; Khaled Ben Helel; Ali Saad; Soumaya Mougou-Zerelli
Journal:  BMC Med Genet       Date:  2020-02-06       Impact factor: 2.103

4.  A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations.

Authors:  Thomas Iype; Vafa Alakbarzade; Mary Iype; Royana Singh; Ajith Sreekantan-Nair; Barry A Chioza; Tribhuvan M Mohapatra; Emma L Baple; Michael A Patton; Thomas T Warner; Christos Proukakis; Abhi Kulkarni; Andrew H Crosby
Journal:  BMC Med Genet       Date:  2015-11-10       Impact factor: 2.103
  4 in total

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